Mutagenetix > Incidental Mutation

Incidental Mutation 'R8814:Pcdh8'

672628

Institutional Source

Beutler Lab

Gene Symbol

Pcdh8

Ensembl Gene

ENSMUSG00000036422

Gene Name

protocadherin 8

Synonyms

1700080P15Rik, Papc

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8814 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79766775-79771312 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79768897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 742 (L742P)

Ref Sequence

ENSEMBL: ENSMUSP00000045333 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039568] [ENSMUST00000195355]

AlphaFold

Q7TSK3

Predicted Effect

probably benign
Transcript: ENSMUST00000039568
AA Change: L742P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000045333
Gene: ENSMUSG00000036422
AA Change: L742P

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
CA	45	133	8.69e-2	SMART
CA	157	243	1.22e-14	SMART
CA	268	352	6.08e-24	SMART
low complexity region	360	392	N/A	INTRINSIC
CA	414	495	5.34e-20	SMART
CA	519	607	1.57e-26	SMART
CA	636	718	1.12e-4	SMART
transmembrane domain	748	770	N/A	INTRINSIC
low complexity region	782	802	N/A	INTRINSIC
low complexity region	828	860	N/A	INTRINSIC
low complexity region	910	933	N/A	INTRINSIC
low complexity region	974	980	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000195355
AA Change: L742P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000141417
Gene: ENSMUSG00000036422
AA Change: L742P

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
CA	45	133	8.69e-2	SMART
CA	157	243	1.22e-14	SMART
CA	268	352	6.08e-24	SMART
low complexity region	360	392	N/A	INTRINSIC
CA	414	495	5.34e-20	SMART
CA	519	607	1.57e-26	SMART
CA	636	718	1.12e-4	SMART
transmembrane domain	748	770	N/A	INTRINSIC
low complexity region	813	836	N/A	INTRINSIC
low complexity region	877	883	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (51/51)

MGI Phenotype

FUNCTION: This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a type I transmembrane protein composed of an extracellular domain including 6 cadherin ectodomains, a single-pass transmembrane domain and a cytoplasmic tail. Unlike classical cadherins, which are generally encoded by 15-17 exons, this gene includes only 3 exons with the first large exon encoding the extracellular and transmembrane region. Although this gene product is capable of homophilic interaction, it appears to affect cell-cell adhesion indirectly by initiating signaling events that regulate classical cadherin-mediated adhesion. Based on studies on this protein and its orthologs, this protocadherin mainly functions in developing embryos and the central nervous system, but can also function as a tumor suppressor. Alternative splicing yielding isoforms with unique cytoplasmic tails has been reported. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice are viable and fertile, and do not exhibit any gross skeletal defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	T	C	6: 129,325,604		probably benign	Het
Brd7	A	G	8: 88,345,154	V361A	probably benign	Het
C6	A	T	15: 4,792,784	Q595L	probably benign	Het
Cacna2d3	T	A	14: 29,097,815	Y532F	probably damaging	Het
Cep85l	A	T	10: 53,348,969	Y175N	probably benign	Het
Clca3a2	G	T	3: 144,797,764	N808K	probably benign	Het
Cpsf4	T	G	5: 145,178,868	S201R	probably benign	Het
Crispld2	A	G	8: 120,015,345	H144R	possibly damaging	Het
Cyp1b1	T	C	17: 79,713,359	E318G	probably benign	Het
Fam109a	G	T	5: 121,853,045	V157L	probably benign	Het
Fer1l4	A	G	2: 156,052,243	F47L	probably benign	Het
Flnb	A	G	14: 7,927,409	D1873G	probably damaging	Het
Gm47995	A	G	1: 151,198,988	M181V	probably benign	Het
Hace1	A	G	10: 45,652,701	Y346C	probably damaging	Het
Hemgn	G	T	4: 46,400,717	Q48K	possibly damaging	Het
Hhip	T	C	8: 80,051,472	D143G	probably damaging	Het
Ift74	C	T	4: 94,662,636	Q342*	probably null	Het
Kng2	A	T	16: 23,004,011	I197N	probably benign	Het
Lcat	G	A	8: 105,941,970	P167S	probably damaging	Het
Lmntd2	G	A	7: 141,210,084	R672W	probably damaging	Het
Mroh2b	G	T	15: 4,941,625	L1037F	possibly damaging	Het
Msh4	A	G	3: 153,872,320	S640P	probably damaging	Het
Mterf1b	T	C	5: 4,197,456	S366P	probably damaging	Het
Nrxn1	A	T	17: 90,630,101	C643S	probably damaging	Het
Olfr1164	T	A	2: 88,092,971	I322F	probably benign	Het
Olfr1496	T	A	19: 13,781,533	I305N	possibly damaging	Het
Olfr485	T	A	7: 108,159,065	K269N	probably benign	Het
Olfr605	A	G	7: 103,442,913	V70A	probably benign	Het
Olfr709-ps1	T	A	7: 106,926,818	I214F	probably damaging	Het
Pask	C	A	1: 93,320,585	R998L	probably benign	Het
Psma3	A	G	12: 70,978,806	E32G	probably benign	Het
Samd11	T	C	4: 156,247,884	E500G	probably benign	Het
Scarb1	A	T	5: 125,294,092	D305E	probably benign	Het
Serpinb6b	A	G	13: 32,978,304	H362R	possibly damaging	Het
Siglec1	G	A	2: 131,072,744	T1484M	probably damaging	Het
Slfn8	A	G	11: 83,016,679	V346A	possibly damaging	Het
Slitrk6	G	C	14: 110,749,938	A779G	probably benign	Het
Soga1	C	T	2: 157,030,531	W965*	probably null	Het
Sub1	A	C	15: 11,984,231	V124G	probably damaging	Het
Tbc1d32	A	G	10: 56,196,592	I277T	possibly damaging	Het
Tln2	C	A	9: 67,221,411	E1465D	possibly damaging	Het
Trappc10	A	G	10: 78,202,919	Y780H	probably damaging	Het
Trim28	T	A	7: 13,028,527	N359K	probably damaging	Het
Tspan15	G	A	10: 62,188,056	T281M	probably benign	Het
Uaca	A	G	9: 60,866,398	N396D	possibly damaging	Het
Vmn1r84	A	G	7: 12,362,458	S103P	probably damaging	Het
Vmn2r22	C	G	6: 123,637,830	R267T	probably damaging	Het
Vmn2r7	A	G	3: 64,716,563	I112T	probably benign	Het
Vmn2r70	T	A	7: 85,565,961	I122F	probably benign	Het
Vmn2r79	C	G	7: 87,002,506	T371S	probably benign	Het
Vps8	T	C	16: 21,576,650	L1230P	probably damaging	Het
Zfp26	A	T	9: 20,438,434	V278D	probably benign	Het

Other mutations in Pcdh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02127:Pcdh8	APN	14	79769246	missense	probably damaging	0.99
IGL02611:Pcdh8	APN	14	79767667	missense	probably benign	0.00
R0094:Pcdh8	UTSW	14	79768148	missense	probably damaging	1.00
R0118:Pcdh8	UTSW	14	79767408	missense	probably damaging	1.00
R0558:Pcdh8	UTSW	14	79770076	missense	probably damaging	1.00
R0681:Pcdh8	UTSW	14	79769960	missense	probably benign
R0718:Pcdh8	UTSW	14	79770691	missense	possibly damaging	0.49
R1281:Pcdh8	UTSW	14	79767726	missense	probably damaging	1.00
R1487:Pcdh8	UTSW	14	79769547	missense	probably damaging	1.00
R1511:Pcdh8	UTSW	14	79769389	missense	possibly damaging	0.46
R1552:Pcdh8	UTSW	14	79770607	missense	probably benign	0.20
R1556:Pcdh8	UTSW	14	79770403	missense	probably damaging	1.00
R1659:Pcdh8	UTSW	14	79768134	missense	probably damaging	1.00
R2062:Pcdh8	UTSW	14	79768211	missense	probably damaging	1.00
R2063:Pcdh8	UTSW	14	79768211	missense	probably damaging	1.00
R2068:Pcdh8	UTSW	14	79768211	missense	probably damaging	1.00
R2920:Pcdh8	UTSW	14	79768714	missense	possibly damaging	0.88
R3970:Pcdh8	UTSW	14	79770266	missense	possibly damaging	0.78
R4113:Pcdh8	UTSW	14	79767513	missense	probably damaging	1.00
R4771:Pcdh8	UTSW	14	79768270	missense	possibly damaging	0.48
R4840:Pcdh8	UTSW	14	79770868	missense	possibly damaging	0.67
R5169:Pcdh8	UTSW	14	79767655	missense	probably benign	0.09
R5187:Pcdh8	UTSW	14	79770154	missense	probably damaging	0.99
R5415:Pcdh8	UTSW	14	79770248	nonsense	probably null
R5548:Pcdh8	UTSW	14	79767502	missense	probably damaging	1.00
R5749:Pcdh8	UTSW	14	79770085	missense	probably damaging	1.00
R5778:Pcdh8	UTSW	14	79770757	missense	probably damaging	1.00
R5795:Pcdh8	UTSW	14	79770980	missense	possibly damaging	0.95
R6313:Pcdh8	UTSW	14	79767651	missense	probably benign	0.02
R7472:Pcdh8	UTSW	14	79771251	splice site	probably null
R7540:Pcdh8	UTSW	14	79771103	missense	probably benign
R7653:Pcdh8	UTSW	14	79767646	missense	probably benign	0.01
R7751:Pcdh8	UTSW	14	79770703	missense	probably damaging	0.96
R7836:Pcdh8	UTSW	14	79768661	missense	possibly damaging	0.73
R8281:Pcdh8	UTSW	14	79769479	missense	probably damaging	0.98
R8365:Pcdh8	UTSW	14	79770986	missense	probably damaging	1.00
R8751:Pcdh8	UTSW	14	79768789	missense	probably benign	0.01
R8931:Pcdh8	UTSW	14	79769531	nonsense	probably null
R9158:Pcdh8	UTSW	14	79767742	missense	probably damaging	1.00
R9485:Pcdh8	UTSW	14	79768249	missense	probably damaging	1.00
R9532:Pcdh8	UTSW	14	79770766	missense	possibly damaging	0.95
R9558:Pcdh8	UTSW	14	79768940	missense	probably damaging	0.99
Z1176:Pcdh8	UTSW	14	79769077	missense	probably benign	0.01
Z1177:Pcdh8	UTSW	14	79769881	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GAGCACGTCGAACATGTTG -3'
(R):5'- TGCTTACTGGAGACCTCTCG -3'

Sequencing Primer
(F):5'- CGTCGAACATGTTGGGCCTG -3'
(R):5'- CCTGGCCGCGTGTTCAAG -3'

Posted On

2021-04-30