Mutagenetix > Incidental Mutation

Incidental Mutation 'R9177:Pcdh15'

696767

Institutional Source

Beutler Lab

Gene Symbol

Pcdh15

Ensembl Gene

ENSMUSG00000052613

Gene Name

protocadherin 15

Synonyms

Gm9815, nmf19, roda, Ush1f

MMRRC Submission

068949-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72935174-74485569 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 74479455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 522 (E522V)

Ref Sequence

ENSEMBL: ENSMUSP00000115399 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000124046] [ENSMUST00000125517] [ENSMUST00000131724] [ENSMUST00000144302] [ENSMUST00000146682] [ENSMUST00000149977] [ENSMUST00000151116] [ENSMUST00000152655] [ENSMUST00000152819] [ENSMUST00000155701] [ENSMUST00000177107] [ENSMUST00000191709] [ENSMUST00000191854] [ENSMUST00000193174] [ENSMUST00000193739] [ENSMUST00000195531]

AlphaFold

Q99PJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000124046

SMART Domains

Protein: ENSMUSP00000121130
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
CA	30	118	7.87e-9	SMART
CA	142	224	4.88e-14	SMART
CA	249	326	4.65e-20	SMART
CA	350	428	1.93e-26	SMART
CA	452	535	5.69e-15	SMART
CA	559	645	6.85e-9	SMART
CA	666	753	3.09e-16	SMART
CA	777	861	4.49e-4	SMART
transmembrane domain	986	1008	N/A	INTRINSIC
low complexity region	1029	1056	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125517
AA Change: E522V

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000115399
Gene: ENSMUSG00000052613
AA Change: E522V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
CA	304	393	1.94e-8	SMART
low complexity region	430	468	N/A	INTRINSIC
low complexity region	521	584	N/A	INTRINSIC
low complexity region	610	641	N/A	INTRINSIC
low complexity region	657	685	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131724

SMART Domains

Protein: ENSMUSP00000122466
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
CA	304	393	1.94e-8	SMART
CA	426	507	2.29e-10	SMART
CA	531	613	4.88e-14	SMART
CA	638	715	4.65e-20	SMART
CA	739	817	1.93e-26	SMART
CA	841	924	5.69e-15	SMART
CA	948	1034	6.85e-9	SMART
CA	1055	1142	3.09e-16	SMART
CA	1166	1250	4.49e-4	SMART
transmembrane domain	1375	1397	N/A	INTRINSIC
low complexity region	1418	1445	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144302

SMART Domains

Protein: ENSMUSP00000122606
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
low complexity region	313	326	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146682

SMART Domains

Protein: ENSMUSP00000134863
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
transmembrane domain	128	150	N/A	INTRINSIC
low complexity region	215	232	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149977

SMART Domains

Protein: ENSMUSP00000118833
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
CA	304	393	1.94e-8	SMART
CA	426	507	2.29e-10	SMART
CA	531	613	4.88e-14	SMART
CA	638	715	4.65e-20	SMART
CA	739	817	1.93e-26	SMART
CA	841	924	5.69e-15	SMART
CA	948	1034	6.85e-9	SMART
CA	1055	1142	3.09e-16	SMART
CA	1166	1250	4.49e-4	SMART
transmembrane domain	1375	1397	N/A	INTRINSIC
low complexity region	1418	1445	N/A	INTRINSIC
low complexity region	1477	1494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151116
AA Change: E1593V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000119662
Gene: ENSMUSG00000052613
AA Change: E1593V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	69	150	1.22e-1	SMART
CA	179	268	5.48e-8	SMART
CA	309	398	1.94e-8	SMART
CA	431	519	7.87e-9	SMART
CA	543	625	4.88e-14	SMART
CA	650	727	4.65e-20	SMART
CA	751	829	1.93e-26	SMART
CA	853	936	5.69e-15	SMART
CA	960	1046	6.85e-9	SMART
CA	1067	1154	3.09e-16	SMART
CA	1178	1262	4.49e-4	SMART
transmembrane domain	1387	1409	N/A	INTRINSIC
low complexity region	1430	1457	N/A	INTRINSIC
low complexity region	1489	1519	N/A	INTRINSIC
low complexity region	1521	1539	N/A	INTRINSIC
low complexity region	1592	1655	N/A	INTRINSIC
low complexity region	1681	1712	N/A	INTRINSIC
low complexity region	1728	1756	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152655
AA Change: E784V

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118201
Gene: ENSMUSG00000052613
AA Change: E784V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	6e-4	SMART
CA	174	263	2.8e-10	SMART
CA	304	393	9.4e-11	SMART
CA	426	507	1.2e-12	SMART
CA	531	613	2.3e-16	SMART
CA	638	726	3.4e-6	SMART
low complexity region	783	846	N/A	INTRINSIC
low complexity region	872	903	N/A	INTRINSIC
low complexity region	919	947	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152819
AA Change: E453V

PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000123647
Gene: ENSMUSG00000052613
AA Change: E453V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
Blast:CA	304	363	1e-33	BLAST
low complexity region	364	399	N/A	INTRINSIC
low complexity region	452	515	N/A	INTRINSIC
low complexity region	541	572	N/A	INTRINSIC
low complexity region	588	616	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155701

SMART Domains

Protein: ENSMUSP00000135495
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
Blast:CA	304	330	2e-8	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000177107

SMART Domains

Protein: ENSMUSP00000135501
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	69	150	1.22e-1	SMART
CA	179	268	5.48e-8	SMART
CA	309	398	1.94e-8	SMART
CA	431	512	2.29e-10	SMART
CA	536	618	4.88e-14	SMART
CA	643	720	4.65e-20	SMART
CA	744	822	1.93e-26	SMART
CA	846	929	5.69e-15	SMART
CA	953	1039	6.85e-9	SMART
CA	1060	1147	3.09e-16	SMART
CA	1171	1255	4.49e-4	SMART
transmembrane domain	1380	1402	N/A	INTRINSIC
low complexity region	1423	1450	N/A	INTRINSIC
low complexity region	1482	1499	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000191709
AA Change: E1584V

SMART Domains

Protein: ENSMUSP00000142313
Gene: ENSMUSG00000052613
AA Change: E1584V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	69	150	1.22e-1	SMART
CA	179	268	5.48e-8	SMART
CA	309	398	1.94e-8	SMART
CA	431	512	2.29e-10	SMART
CA	536	618	4.88e-14	SMART
CA	643	720	4.65e-20	SMART
CA	744	822	1.93e-26	SMART
CA	846	929	5.69e-15	SMART
CA	953	1039	6.85e-9	SMART
CA	1060	1147	3.09e-16	SMART
CA	1171	1255	4.49e-4	SMART
transmembrane domain	1380	1402	N/A	INTRINSIC
low complexity region	1423	1450	N/A	INTRINSIC
low complexity region	1480	1510	N/A	INTRINSIC
low complexity region	1512	1530	N/A	INTRINSIC
low complexity region	1583	1646	N/A	INTRINSIC
low complexity region	1672	1703	N/A	INTRINSIC
low complexity region	1719	1747	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000191854

SMART Domains

Protein: ENSMUSP00000141973
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	1.22e-1	SMART
CA	174	263	5.48e-8	SMART
CA	304	393	1.94e-8	SMART
CA	426	507	2.29e-10	SMART
CA	531	613	4.88e-14	SMART
CA	638	715	4.65e-20	SMART
CA	739	817	1.93e-26	SMART
CA	841	924	5.69e-15	SMART
CA	948	1034	6.85e-9	SMART
CA	1055	1142	3.09e-16	SMART
CA	1166	1250	4.49e-4	SMART
transmembrane domain	1375	1397	N/A	INTRINSIC
low complexity region	1418	1445	N/A	INTRINSIC
low complexity region	1477	1494	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000193174
AA Change: E1586V

SMART Domains

Protein: ENSMUSP00000142238
Gene: ENSMUSG00000052613
AA Change: E1586V

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	6e-4	SMART
CA	174	263	2.8e-10	SMART
CA	304	393	9.4e-11	SMART
CA	426	514	3.8e-11	SMART
CA	538	620	2.3e-16	SMART
CA	645	722	2.3e-22	SMART
CA	746	824	9.3e-29	SMART
CA	848	931	2.8e-17	SMART
CA	955	1041	3.3e-11	SMART
CA	1062	1149	1.5e-18	SMART
CA	1173	1257	2.3e-6	SMART
transmembrane domain	1382	1404	N/A	INTRINSIC
low complexity region	1425	1452	N/A	INTRINSIC
low complexity region	1482	1512	N/A	INTRINSIC
low complexity region	1514	1532	N/A	INTRINSIC
low complexity region	1585	1648	N/A	INTRINSIC
low complexity region	1674	1705	N/A	INTRINSIC
low complexity region	1721	1749	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193739

SMART Domains

Protein: ENSMUSP00000142173
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	69	150	1.22e-1	SMART
CA	179	268	5.48e-8	SMART
CA	309	398	1.94e-8	SMART
CA	431	512	2.29e-10	SMART
CA	536	618	4.88e-14	SMART
CA	643	720	4.65e-20	SMART
CA	744	822	1.93e-26	SMART
CA	846	929	5.69e-15	SMART
CA	953	1039	6.85e-9	SMART
CA	1060	1147	3.09e-16	SMART
CA	1171	1255	4.49e-4	SMART
transmembrane domain	1382	1404	N/A	INTRINSIC
low complexity region	1420	1447	N/A	INTRINSIC
low complexity region	1477	1494	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195531

SMART Domains

Protein: ENSMUSP00000141920
Gene: ENSMUSG00000052613

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
CA	64	145	6e-4	SMART
CA	174	263	2.8e-10	SMART
CA	304	393	9.4e-11	SMART
CA	426	507	1.2e-12	SMART
CA	531	613	2.3e-16	SMART
CA	638	715	2.3e-22	SMART
CA	739	817	9.3e-29	SMART
CA	841	924	2.8e-17	SMART
CA	948	1034	3.3e-11	SMART
CA	1055	1142	1.5e-18	SMART
CA	1166	1250	2.3e-6	SMART
transmembrane domain	1377	1399	N/A	INTRINSIC
low complexity region	1415	1442	N/A	INTRINSIC
low complexity region	1514	1531	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]
PHENOTYPE: Homozygotes for severe mutations exhibit circling, head-tossing, hyperactivity, impaired swimming and profound deafness. Mice have defects in cochlea and degeneration of hair cells, spiral ganglion cells and saccular macula. Females are poor mothers. [provided by MGI curators]

Allele List at MGI

All alleles(11) : Gene trapped(2) Transgenic(1) Spontaneous(6) Chemically induced(2)

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	A	3: 137,775,677 (GRCm39)	V1622D	probably damaging	Het
Acadsb	C	T	7: 131,033,763 (GRCm39)	T260I	probably damaging	Het
Acap2	A	T	16: 30,955,392 (GRCm39)	V161E	probably damaging	Het
Alk	T	C	17: 72,181,190 (GRCm39)	T1367A	probably damaging	Het
Atg2a	A	C	19: 6,291,905 (GRCm39)	H27P	probably damaging	Het
Atp2c1	C	T	9: 105,336,858 (GRCm39)		probably null	Het
C1s1	T	G	6: 124,508,362 (GRCm39)	K542N	probably damaging	Het
Camk1d	A	G	2: 5,303,901 (GRCm39)	S351P	probably benign	Het
Carf	C	A	1: 60,148,558 (GRCm39)	Q85K	possibly damaging	Het
Caskin2	T	C	11: 115,698,683 (GRCm39)	N43S	probably damaging	Het
Cd40	T	C	2: 164,905,465 (GRCm39)	C161R	probably damaging	Het
Cdh19	A	G	1: 110,877,111 (GRCm39)	F76S	probably damaging	Het
Cdkl1	T	C	12: 69,794,100 (GRCm39)	N346D	probably benign	Het
Cdon	A	G	9: 35,381,230 (GRCm39)	D540G	probably benign	Het
Cep164	T	A	9: 45,691,060 (GRCm39)	E379V	probably damaging	Het
Clock	T	C	5: 76,377,256 (GRCm39)	N681S	probably benign	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Col6a5	T	G	9: 105,808,152 (GRCm39)	K965N	unknown	Het
Dctn4	T	A	18: 60,659,304 (GRCm39)	M1K	probably null	Het
Dhx30	T	C	9: 109,915,750 (GRCm39)	D741G	probably damaging	Het
Dhx37	A	G	5: 125,507,958 (GRCm39)	V104A	probably benign	Het
Dnah12	A	G	14: 26,571,255 (GRCm39)	K2788R	possibly damaging	Het
Egfr	T	A	11: 16,855,410 (GRCm39)	D898E	probably damaging	Het
Eif2ak4	G	C	2: 118,271,701 (GRCm39)		probably null	Het
Eif6	A	G	2: 155,665,852 (GRCm39)	L101P	probably damaging	Het
Etaa1	A	T	11: 17,896,419 (GRCm39)	V566E	probably damaging	Het
Far2	C	T	6: 148,060,418 (GRCm39)	T257I	probably benign	Het
Fuca2	G	A	10: 13,390,563 (GRCm39)	W453*	probably null	Het
Galntl6	A	T	8: 58,310,590 (GRCm39)	Y370*	probably null	Het
Gcn1	T	C	5: 115,719,867 (GRCm39)	V374A	probably benign	Het
Hjv	T	C	3: 96,435,881 (GRCm39)	F380L	probably benign	Het
Hycc2	T	C	1: 58,591,361 (GRCm39)	D94G	probably damaging	Het
Ifi202b	A	T	1: 173,804,949 (GRCm39)	M1K	probably null	Het
Lama4	A	G	10: 38,950,688 (GRCm39)	Y997C	probably damaging	Het
Lepr	T	A	4: 101,602,798 (GRCm39)	C195*	probably null	Het
Lrrc37	T	A	11: 103,508,263 (GRCm39)	H1235L	unknown	Het
Lrrc73	T	C	17: 46,565,535 (GRCm39)	S89P	probably benign	Het
Macf1	T	C	4: 123,367,582 (GRCm39)	E2393G	probably damaging	Het
Mdga2	T	A	12: 66,517,481 (GRCm39)	T118S	possibly damaging	Het
Msantd5f3	T	C	4: 73,575,373 (GRCm39)	S351P	probably damaging	Het
Mtf2	A	G	5: 108,234,949 (GRCm39)	K124R	probably benign	Het
Muc5b	T	C	7: 141,399,075 (GRCm39)	Y339H	unknown	Het
Nes	G	A	3: 87,887,012 (GRCm39)	G1757E	probably damaging	Het
Nfatc4	A	T	14: 56,064,685 (GRCm39)	I391F	probably damaging	Het
Nup93	A	T	8: 94,954,371 (GRCm39)	I23F	probably benign	Het
Or4a27	A	C	2: 88,559,174 (GRCm39)	Y256*	probably null	Het
Or5h17	T	G	16: 58,820,083 (GRCm39)	F12V	probably damaging	Het
Or6y1	A	C	1: 174,276,923 (GRCm39)	T245P	probably damaging	Het
Or7g16	G	T	9: 18,726,742 (GRCm39)	Q283K	probably damaging	Het
Or9i14	A	T	19: 13,792,388 (GRCm39)	C189S	probably damaging	Het
Pak5	A	C	2: 135,943,126 (GRCm39)	M338R	probably benign	Het
Papola	A	G	12: 105,766,032 (GRCm39)	E44G	probably benign	Het
Peli2	A	G	14: 48,518,927 (GRCm39)	E225G	probably benign	Het
Pla2g1b	T	G	5: 115,612,595 (GRCm39)	I117S	probably damaging	Het
Plxnd1	G	T	6: 115,943,469 (GRCm39)	Q1246K	probably benign	Het
Pole	A	G	5: 110,480,288 (GRCm39)	E1953G	probably benign	Het
Pus7l	T	C	15: 94,431,445 (GRCm39)	I395V	probably benign	Het
Shisa7	T	G	7: 4,837,333 (GRCm39)	D244A	probably damaging	Het
Slco3a1	T	C	7: 73,952,946 (GRCm39)	T538A	probably benign	Het
Syk	T	A	13: 52,766,480 (GRCm39)	N188K	probably benign	Het
Tcf20	A	G	15: 82,740,705 (GRCm39)	S249P	probably benign	Het
Tmem25	T	C	9: 44,709,529 (GRCm39)	T91A	possibly damaging	Het
Trank1	T	C	9: 111,221,579 (GRCm39)	V2772A	probably benign	Het
Ttn	A	T	2: 76,596,447 (GRCm39)	Y20155*	probably null	Het
Uchl4	C	T	9: 64,142,986 (GRCm39)	H156Y	probably benign	Het
Ulbp1	A	T	10: 7,396,392 (GRCm39)	L295Q	unknown	Het
Vwf	G	A	6: 125,581,254 (GRCm39)	A631T		Het
Zfp810	C	T	9: 22,189,936 (GRCm39)	C324Y	probably damaging	Het
Zswim8	T	C	14: 20,761,908 (GRCm39)	L227P	probably damaging	Het

Other mutations in Pcdh15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Pcdh15	APN	10	74,021,177 (GRCm39)	nonsense	probably null
IGL00432:Pcdh15	APN	10	74,126,914 (GRCm39)	splice site	probably benign
IGL00533:Pcdh15	APN	10	74,338,552 (GRCm39)	missense	probably damaging	1.00
IGL00596:Pcdh15	APN	10	74,466,576 (GRCm39)	missense	probably benign	0.00
IGL00930:Pcdh15	APN	10	74,466,530 (GRCm39)	missense	probably benign	0.08
IGL00970:Pcdh15	APN	10	74,215,172 (GRCm39)	missense	probably damaging	1.00
IGL01087:Pcdh15	APN	10	74,178,464 (GRCm39)	missense	possibly damaging	0.90
IGL01763:Pcdh15	APN	10	74,046,293 (GRCm39)	missense	probably benign	0.09
IGL01787:Pcdh15	APN	10	74,286,115 (GRCm39)	missense	probably benign	0.25
IGL02070:Pcdh15	APN	10	74,466,700 (GRCm39)	missense	probably benign	0.00
IGL02234:Pcdh15	APN	10	74,467,694 (GRCm39)	missense	probably benign	0.02
IGL02268:Pcdh15	APN	10	74,178,504 (GRCm39)	missense	probably damaging	1.00
IGL02280:Pcdh15	APN	10	74,058,295 (GRCm39)	missense	probably damaging	1.00
IGL02363:Pcdh15	APN	10	74,152,918 (GRCm39)	missense	probably damaging	0.98
IGL02420:Pcdh15	APN	10	74,138,938 (GRCm39)	missense	probably damaging	0.98
IGL02749:Pcdh15	APN	10	74,466,900 (GRCm39)	missense	probably benign	0.00
IGL02939:Pcdh15	APN	10	74,340,648 (GRCm39)	splice site	probably benign
IGL02970:Pcdh15	APN	10	74,126,794 (GRCm39)	splice site	probably benign
IGL03010:Pcdh15	APN	10	74,221,777 (GRCm39)	missense	probably damaging	1.00
IGL03061:Pcdh15	APN	10	74,152,843 (GRCm39)	missense	probably damaging	0.97
IGL03095:Pcdh15	APN	10	74,191,706 (GRCm39)	missense	probably damaging	1.00
IGL03149:Pcdh15	APN	10	74,466,527 (GRCm39)	missense	probably damaging	1.00
IGL03187:Pcdh15	APN	10	74,191,706 (GRCm39)	missense	probably damaging	1.00
IGL03279:Pcdh15	APN	10	74,152,904 (GRCm39)	missense	probably damaging	1.00
IGL03392:Pcdh15	APN	10	74,460,104 (GRCm39)	missense	probably damaging	1.00
loop	UTSW	10	74,021,210 (GRCm39)	missense	probably damaging	1.00
mcduck	UTSW	10	74,462,676 (GRCm39)	critical splice donor site	probably null
spaz	UTSW	10	74,046,257 (GRCm39)	missense	probably damaging	1.00
sphere	UTSW	10	74,460,116 (GRCm39)	missense	probably damaging	1.00
squirm	UTSW	10	0 ()	large deletion
Tortilla	UTSW	10	74,215,249 (GRCm39)	splice site	probably null
1mM(1):Pcdh15	UTSW	10	74,461,969 (GRCm39)	intron	probably benign
BB009:Pcdh15	UTSW	10	74,481,359 (GRCm39)	missense	probably benign	0.18
BB019:Pcdh15	UTSW	10	74,481,359 (GRCm39)	missense	probably benign	0.18
R0038:Pcdh15	UTSW	10	74,479,272 (GRCm39)	missense	possibly damaging	0.95
R0103:Pcdh15	UTSW	10	74,046,257 (GRCm39)	missense	probably damaging	1.00
R0110:Pcdh15	UTSW	10	74,126,808 (GRCm39)	missense	probably damaging	1.00
R0111:Pcdh15	UTSW	10	74,462,651 (GRCm39)	nonsense	probably null
R0119:Pcdh15	UTSW	10	74,006,407 (GRCm39)	missense	probably damaging	1.00
R0131:Pcdh15	UTSW	10	74,006,440 (GRCm39)	missense	probably null	1.00
R0445:Pcdh15	UTSW	10	74,178,381 (GRCm39)	missense	probably damaging	1.00
R0464:Pcdh15	UTSW	10	74,462,676 (GRCm39)	critical splice donor site	probably null
R0503:Pcdh15	UTSW	10	74,046,217 (GRCm39)	missense	probably damaging	1.00
R0507:Pcdh15	UTSW	10	74,457,129 (GRCm39)	missense	probably damaging	1.00
R0510:Pcdh15	UTSW	10	74,126,808 (GRCm39)	missense	probably damaging	1.00
R0742:Pcdh15	UTSW	10	74,457,129 (GRCm39)	missense	probably damaging	1.00
R0790:Pcdh15	UTSW	10	74,466,885 (GRCm39)	missense	probably benign	0.01
R0829:Pcdh15	UTSW	10	74,338,598 (GRCm39)	missense	probably damaging	1.00
R0839:Pcdh15	UTSW	10	74,462,614 (GRCm39)	missense	probably null	1.00
R0882:Pcdh15	UTSW	10	74,178,488 (GRCm39)	missense	probably damaging	1.00
R0894:Pcdh15	UTSW	10	74,460,087 (GRCm39)	missense	probably damaging	1.00
R0944:Pcdh15	UTSW	10	74,046,302 (GRCm39)	missense	probably damaging	0.99
R1081:Pcdh15	UTSW	10	74,286,145 (GRCm39)	missense	probably damaging	1.00
R1148:Pcdh15	UTSW	10	74,006,392 (GRCm39)	missense	probably damaging	1.00
R1148:Pcdh15	UTSW	10	74,006,392 (GRCm39)	missense	probably damaging	1.00
R1484:Pcdh15	UTSW	10	74,126,833 (GRCm39)	missense	probably damaging	1.00
R1521:Pcdh15	UTSW	10	74,430,023 (GRCm39)	missense	probably damaging	1.00
R1694:Pcdh15	UTSW	10	74,429,995 (GRCm39)	missense	probably damaging	1.00
R1795:Pcdh15	UTSW	10	74,460,087 (GRCm39)	missense	probably damaging	1.00
R2021:Pcdh15	UTSW	10	74,467,025 (GRCm39)	missense	possibly damaging	0.93
R2022:Pcdh15	UTSW	10	74,467,025 (GRCm39)	missense	possibly damaging	0.93
R2023:Pcdh15	UTSW	10	74,467,025 (GRCm39)	missense	possibly damaging	0.93
R2076:Pcdh15	UTSW	10	74,178,479 (GRCm39)	missense	probably damaging	1.00
R2199:Pcdh15	UTSW	10	74,006,341 (GRCm39)	missense	probably damaging	1.00
R2510:Pcdh15	UTSW	10	74,467,331 (GRCm39)	missense	probably benign	0.39
R2511:Pcdh15	UTSW	10	74,481,828 (GRCm39)	missense	possibly damaging	0.94
R3418:Pcdh15	UTSW	10	74,420,054 (GRCm39)	missense	probably benign	0.12
R3419:Pcdh15	UTSW	10	74,420,054 (GRCm39)	missense	probably benign	0.12
R3433:Pcdh15	UTSW	10	74,467,331 (GRCm39)	missense	probably benign	0.39
R3619:Pcdh15	UTSW	10	74,479,227 (GRCm39)	missense	probably benign	0.19
R3723:Pcdh15	UTSW	10	74,481,680 (GRCm39)	missense	probably benign	0.05
R3724:Pcdh15	UTSW	10	74,481,680 (GRCm39)	missense	probably benign	0.05
R3778:Pcdh15	UTSW	10	73,782,983 (GRCm39)	splice site	probably null
R3851:Pcdh15	UTSW	10	74,467,518 (GRCm39)	missense	probably damaging	0.97
R4175:Pcdh15	UTSW	10	74,467,829 (GRCm39)	intron	probably benign
R4261:Pcdh15	UTSW	10	74,481,512 (GRCm39)	missense	probably damaging	1.00
R4385:Pcdh15	UTSW	10	74,386,322 (GRCm39)	missense	probably damaging	1.00
R4585:Pcdh15	UTSW	10	74,460,116 (GRCm39)	missense	probably damaging	1.00
R4602:Pcdh15	UTSW	10	74,430,046 (GRCm39)	missense	probably damaging	1.00
R4639:Pcdh15	UTSW	10	74,479,439 (GRCm39)	missense	probably benign	0.00
R4703:Pcdh15	UTSW	10	74,285,995 (GRCm39)	missense	probably damaging	1.00
R4819:Pcdh15	UTSW	10	74,160,221 (GRCm39)	missense	probably damaging	1.00
R4906:Pcdh15	UTSW	10	74,340,625 (GRCm39)	nonsense	probably null
R4961:Pcdh15	UTSW	10	74,215,249 (GRCm39)	splice site	probably null
R5018:Pcdh15	UTSW	10	74,479,607 (GRCm39)	missense	possibly damaging	0.68
R5125:Pcdh15	UTSW	10	74,419,912 (GRCm39)	missense	probably damaging	0.98
R5225:Pcdh15	UTSW	10	74,138,986 (GRCm39)	missense	probably damaging	1.00
R5259:Pcdh15	UTSW	10	74,232,204 (GRCm39)	missense	possibly damaging	0.67
R5279:Pcdh15	UTSW	10	74,430,015 (GRCm39)	missense	probably damaging	1.00
R5395:Pcdh15	UTSW	10	74,021,119 (GRCm39)	missense	probably damaging	1.00
R5458:Pcdh15	UTSW	10	74,340,611 (GRCm39)	missense	probably damaging	1.00
R5617:Pcdh15	UTSW	10	74,471,504 (GRCm39)	intron	probably benign
R5665:Pcdh15	UTSW	10	74,462,620 (GRCm39)	missense	probably damaging	1.00
R5770:Pcdh15	UTSW	10	74,021,177 (GRCm39)	nonsense	probably null
R5805:Pcdh15	UTSW	10	74,066,091 (GRCm39)	missense	probably damaging	1.00
R5914:Pcdh15	UTSW	10	74,466,768 (GRCm39)	missense	probably benign	0.42
R5988:Pcdh15	UTSW	10	74,215,189 (GRCm39)	missense	probably benign	0.05
R6133:Pcdh15	UTSW	10	74,481,805 (GRCm39)	splice site	probably null
R6189:Pcdh15	UTSW	10	74,178,483 (GRCm39)	missense	probably null	1.00
R6414:Pcdh15	UTSW	10	74,021,258 (GRCm39)	missense	probably damaging	1.00
R6536:Pcdh15	UTSW	10	74,467,221 (GRCm39)	missense	probably damaging	1.00
R6612:Pcdh15	UTSW	10	74,021,210 (GRCm39)	missense	probably damaging	1.00
R6711:Pcdh15	UTSW	10	74,478,219 (GRCm39)	missense	possibly damaging	0.83
R6793:Pcdh15	UTSW	10	74,466,971 (GRCm39)	missense	probably damaging	1.00
R6841:Pcdh15	UTSW	10	74,286,052 (GRCm39)	missense	probably damaging	1.00
R6845:Pcdh15	UTSW	10	74,466,465 (GRCm39)	missense	probably benign
R6915:Pcdh15	UTSW	10	74,479,641 (GRCm39)	missense	probably benign	0.16
R6954:Pcdh15	UTSW	10	74,481,821 (GRCm39)	missense	possibly damaging	0.92
R6970:Pcdh15	UTSW	10	74,338,519 (GRCm39)	missense	probably damaging	0.98
R7018:Pcdh15	UTSW	10	74,302,186 (GRCm39)	missense	probably damaging	1.00
R7064:Pcdh15	UTSW	10	74,466,446 (GRCm39)	missense	possibly damaging	0.67
R7079:Pcdh15	UTSW	10	74,152,957 (GRCm39)	missense	probably benign	0.21
R7172:Pcdh15	UTSW	10	74,338,597 (GRCm39)	missense	probably damaging	1.00
R7220:Pcdh15	UTSW	10	74,178,441 (GRCm39)	missense	possibly damaging	0.64
R7237:Pcdh15	UTSW	10	74,420,023 (GRCm39)	missense	possibly damaging	0.88
R7266:Pcdh15	UTSW	10	74,215,222 (GRCm39)	nonsense	probably null
R7276:Pcdh15	UTSW	10	74,160,224 (GRCm39)	missense	probably benign	0.25
R7359:Pcdh15	UTSW	10	74,420,048 (GRCm39)	missense	probably damaging	0.99
R7396:Pcdh15	UTSW	10	74,466,522 (GRCm39)	missense	probably benign	0.17
R7421:Pcdh15	UTSW	10	74,289,897 (GRCm39)	missense	possibly damaging	0.90
R7424:Pcdh15	UTSW	10	74,342,317 (GRCm39)	missense	probably benign	0.09
R7463:Pcdh15	UTSW	10	74,467,602 (GRCm39)	missense	possibly damaging	0.66
R7469:Pcdh15	UTSW	10	74,481,812 (GRCm39)	missense	probably benign
R7512:Pcdh15	UTSW	10	74,477,214 (GRCm39)	missense	possibly damaging	0.81
R7767:Pcdh15	UTSW	10	74,322,088 (GRCm39)	missense	probably benign	0.07
R7830:Pcdh15	UTSW	10	74,221,733 (GRCm39)	missense	probably damaging	1.00
R7890:Pcdh15	UTSW	10	74,478,146 (GRCm39)	missense	probably damaging	1.00
R7897:Pcdh15	UTSW	10	74,289,827 (GRCm39)	missense	probably damaging	1.00
R7908:Pcdh15	UTSW	10	74,479,414 (GRCm39)	missense	probably benign	0.04
R7932:Pcdh15	UTSW	10	74,481,359 (GRCm39)	missense	probably benign	0.18
R7940:Pcdh15	UTSW	10	74,430,022 (GRCm39)	missense	probably damaging	1.00
R8230:Pcdh15	UTSW	10	74,191,707 (GRCm39)	missense	probably damaging	1.00
R8307:Pcdh15	UTSW	10	74,342,307 (GRCm39)	nonsense	probably null
R8382:Pcdh15	UTSW	10	74,479,227 (GRCm39)	missense	probably benign	0.19
R8397:Pcdh15	UTSW	10	74,126,865 (GRCm39)	missense	probably damaging	1.00
R8498:Pcdh15	UTSW	10	74,317,974 (GRCm39)	missense	probably damaging	1.00
R8692:Pcdh15	UTSW	10	74,289,805 (GRCm39)	missense	possibly damaging	0.63
R8797:Pcdh15	UTSW	10	74,419,978 (GRCm39)	missense	probably damaging	1.00
R9020:Pcdh15	UTSW	10	74,481,443 (GRCm39)	missense	probably benign	0.01
R9033:Pcdh15	UTSW	10	74,302,138 (GRCm39)	missense	probably damaging	1.00
R9056:Pcdh15	UTSW	10	74,221,731 (GRCm39)	missense	probably damaging	1.00
R9191:Pcdh15	UTSW	10	74,161,981 (GRCm39)	missense	probably benign	0.38
R9268:Pcdh15	UTSW	10	74,479,455 (GRCm39)	missense	probably benign	0.13
R9279:Pcdh15	UTSW	10	74,461,756 (GRCm39)	intron	probably benign
R9294:Pcdh15	UTSW	10	74,479,560 (GRCm39)	missense	unknown
R9387:Pcdh15	UTSW	10	74,066,192 (GRCm39)	missense	probably damaging	0.98
R9409:Pcdh15	UTSW	10	74,160,190 (GRCm39)	missense	probably damaging	0.98
R9410:Pcdh15	UTSW	10	74,481,663 (GRCm39)	frame shift	probably null
R9412:Pcdh15	UTSW	10	74,481,663 (GRCm39)	frame shift	probably null
R9432:Pcdh15	UTSW	10	74,460,170 (GRCm39)	missense	probably damaging	1.00
R9444:Pcdh15	UTSW	10	74,478,176 (GRCm39)	missense	probably damaging	1.00
R9579:Pcdh15	UTSW	10	74,457,117 (GRCm39)	missense	possibly damaging	0.89
R9643:Pcdh15	UTSW	10	74,479,335 (GRCm39)	missense	probably benign	0.18
R9784:Pcdh15	UTSW	10	74,467,212 (GRCm39)	missense	probably benign	0.00
RF020:Pcdh15	UTSW	10	74,021,242 (GRCm39)	missense	probably damaging	1.00
Z1176:Pcdh15	UTSW	10	74,466,533 (GRCm39)	missense	probably benign	0.00
Z1177:Pcdh15	UTSW	10	74,340,632 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCAAAGTTGAAATTAGAGAGCC -3'
(R):5'- TGGACTCAGACTCCTCTGAC -3'

Sequencing Primer
(F):5'- GTAGTCACCGTTGAGAAGCCAC -3'
(R):5'- TCCTCTGACTCCGGGGTAGAG -3'

Posted On

2022-02-07