Mutagenetix > Incidental Mutation

Incidental Mutation 'R0554:Pcdhb15'

45418

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb15

Ensembl Gene

ENSMUSG00000047033

Gene Name

protocadherin beta 15

Synonyms

Pcdhb7, PcdhbO

MMRRC Submission

038746-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R0554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37606599-37609393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37607572 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 268 (D268G)

Ref Sequence

ENSEMBL: ENSMUSP00000059598 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050034] [ENSMUST00000051442] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y04

Predicted Effect

probably damaging
Transcript: ENSMUST00000050034
AA Change: D268G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000059598
Gene: ENSMUSG00000047033
AA Change: D268G

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	2.6e-33	PFAM
CA	155	240	7.79e-22	SMART
CA	264	345	4.37e-25	SMART
CA	368	449	4.4e-21	SMART
CA	473	559	7.38e-23	SMART
CA	589	670	4.48e-13	SMART
Pfam:Cadherin_C_2	686	770	5.3e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000051442

SMART Domains

Protein: ENSMUSP00000056347
Gene: ENSMUSG00000047910

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	46	132	7.7e-1	SMART
CA	156	241	1.93e-17	SMART
CA	265	346	4.2e-27	SMART
CA	369	450	1.08e-24	SMART
CA	474	560	3.31e-25	SMART
CA	590	671	2.87e-11	SMART
Pfam:Cadherin_C_2	687	770	4.1e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115661

SMART Domains

Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458

Domain	Start	End	E-Value	Type
CA	20	131	5.3e-2	SMART
CA	155	240	1.51e-19	SMART
CA	264	348	7.6e-25	SMART
CA	372	453	1.42e-24	SMART
CA	477	563	1.42e-24	SMART
CA	594	674	4.12e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	796	930	3.9e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194544

SMART Domains

Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836

Domain	Start	End	E-Value	Type
Blast:CA	18	66	5e-20	BLAST

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

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 protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 144,982,181 (GRCm39)	Y255*	probably null	Het
1810024B03Rik	A	G	2: 127,029,196 (GRCm39)	M1T	probably null	Het
4930503L19Rik	T	C	18: 70,600,451 (GRCm39)	D386G	probably damaging	Het
Ace2	T	A	X: 162,958,947 (GRCm39)	N601K	probably benign	Het
Adam4	A	C	12: 81,468,198 (GRCm39)	I141R	probably damaging	Het
Adcy10	G	A	1: 165,340,699 (GRCm39)	G235S	probably benign	Het
Adcy5	G	A	16: 35,114,387 (GRCm39)	V997I	probably benign	Het
Aff2	T	G	X: 68,907,680 (GRCm39)	W1221G	possibly damaging	Het
Ankrd44	T	C	1: 54,802,917 (GRCm39)	N194D	probably benign	Het
Apba2	T	G	7: 64,395,528 (GRCm39)	L668R	probably damaging	Het
Asph	T	C	4: 9,604,581 (GRCm39)	D152G	probably damaging	Het
Bcl3	C	G	7: 19,553,991 (GRCm39)	V126L	probably benign	Het
Cd163	A	G	6: 124,289,619 (GRCm39)	T446A	probably benign	Het
Cd209g	C	T	8: 4,184,995 (GRCm39)		probably benign	Het
Cdadc1	A	T	14: 59,823,901 (GRCm39)	V197E	probably damaging	Het
CN725425	T	C	15: 91,144,966 (GRCm39)	C610R	possibly damaging	Het
Col6a2	A	G	10: 76,446,995 (GRCm39)		probably null	Het
Coro7	A	G	16: 4,450,121 (GRCm39)	L576P	possibly damaging	Het
Dgkb	T	A	12: 38,266,030 (GRCm39)	V503E	probably benign	Het
Dhx57	A	T	17: 80,567,665 (GRCm39)	L806*	probably null	Het
Dlec1	T	C	9: 118,944,070 (GRCm39)	V373A	probably benign	Het
Dnah11	G	T	12: 117,894,913 (GRCm39)	R3645S	probably benign	Het
Dnhd1	T	C	7: 105,343,602 (GRCm39)	S1649P	probably benign	Het
Draxin	T	G	4: 148,192,420 (GRCm39)	K297N	probably damaging	Het
Epha7	T	C	4: 28,951,401 (GRCm39)	S841P	probably damaging	Het
Esp8	T	G	17: 40,841,166 (GRCm39)	D142E	unknown	Het
F5	T	G	1: 164,007,018 (GRCm39)	V274G	probably damaging	Het
Fancc	T	C	13: 63,465,283 (GRCm39)	S475G	probably benign	Het
Fmo3	T	C	1: 162,781,901 (GRCm39)	N484S	probably benign	Het
Focad	T	C	4: 88,267,126 (GRCm39)	Y1046H	unknown	Het
Furin	C	T	7: 80,041,032 (GRCm39)	G602D	probably damaging	Het
Fut8	A	T	12: 77,411,744 (GRCm39)	I69L	probably benign	Het
Gnai3	A	G	3: 108,030,928 (GRCm39)	I78T	probably benign	Het
Gpr182	T	C	10: 127,586,940 (GRCm39)	I4V	probably benign	Het
Gpr63	T	C	4: 25,007,447 (GRCm39)	M57T	probably benign	Het
Grm1	T	A	10: 10,595,667 (GRCm39)	T654S	probably benign	Het
Gtf2h4	T	C	17: 35,979,531 (GRCm39)	T371A	probably benign	Het
Helq	T	C	5: 100,938,066 (GRCm39)	N460S	probably benign	Het
Hmcn1	T	C	1: 150,594,868 (GRCm39)	N1867S	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Iigp1c	G	A	18: 60,378,489 (GRCm39)	R8H	probably benign	Het
Inpp5j	A	G	11: 3,449,644 (GRCm39)	Y713H	probably damaging	Het
Ints6	A	T	14: 62,942,200 (GRCm39)	V511D	possibly damaging	Het
Irag2	G	A	6: 145,111,013 (GRCm39)	A237T	probably benign	Het
Itga4	A	G	2: 79,109,461 (GRCm39)	Y220C	probably damaging	Het
Itgav	T	G	2: 83,624,614 (GRCm39)	S735A	possibly damaging	Het
Kctd16	A	G	18: 40,391,492 (GRCm39)	I27V	probably benign	Het
Klhl6	T	C	16: 19,772,343 (GRCm39)	E334G	probably damaging	Het
Ltbp1	T	A	17: 75,532,274 (GRCm39)	L116H	probably damaging	Het
Magohb	T	A	6: 131,262,660 (GRCm39)	H98L	probably benign	Het
Mgat2	A	G	12: 69,232,166 (GRCm39)	T247A	probably benign	Het
Mtif2	G	A	11: 29,483,398 (GRCm39)		probably null	Het
Myrfl	T	C	10: 116,664,878 (GRCm39)	E384G	probably damaging	Het
Nfam1	G	T	15: 82,917,410 (GRCm39)	R8S	probably benign	Het
Numa1	T	C	7: 101,644,731 (GRCm39)	S236P	possibly damaging	Het
Or14c46	A	T	7: 85,918,865 (GRCm39)	I44N	probably damaging	Het
Or2w3b	T	C	11: 58,623,865 (GRCm39)	N42S	probably damaging	Het
Or5m10b	T	C	2: 85,699,863 (GRCm39)	F309S	probably benign	Het
Or6c207	T	C	10: 129,104,368 (GRCm39)	T275A	probably benign	Het
Orc4	C	T	2: 48,795,433 (GRCm39)	S431N	probably benign	Het
Pax2	T	C	19: 44,750,300 (GRCm39)	V129A	probably damaging	Het
Pdcd1	G	A	1: 93,967,107 (GRCm39)	R264C	probably damaging	Het
Pi15	T	A	1: 17,691,872 (GRCm39)	M187K	probably benign	Het
Plag1	C	T	4: 3,904,546 (GRCm39)	C215Y	probably damaging	Het
Plagl1	A	G	10: 13,002,926 (GRCm39)	T65A	probably benign	Het
Pramel51	T	C	12: 88,144,328 (GRCm39)	T162A	probably benign	Het
Prss48	T	A	3: 85,908,228 (GRCm39)	Q18L	probably benign	Het
Prune2	T	A	19: 17,102,582 (GRCm39)	C2580*	probably null	Het
Rab40b	T	A	11: 121,250,432 (GRCm39)	Q74L	probably damaging	Het
Raf1	A	G	6: 115,600,491 (GRCm39)	I376T	probably benign	Het
Rbm46	A	T	3: 82,772,575 (GRCm39)	F186I	probably damaging	Het
Reps1	C	T	10: 17,998,867 (GRCm39)	T720M	possibly damaging	Het
Rgs22	A	G	15: 36,054,855 (GRCm39)	M649T	probably benign	Het
Rhot1	C	T	11: 80,134,264 (GRCm39)	R47*	probably null	Het
Rhox2f	A	G	X: 36,753,124 (GRCm39)	Y8C	possibly damaging	Het
Rnf17	A	G	14: 56,760,007 (GRCm39)	Y1604C	probably damaging	Het
Rnf40	T	C	7: 127,201,756 (GRCm39)	C943R	probably damaging	Het
Ropn1l	A	T	15: 31,451,295 (GRCm39)	M63K	probably benign	Het
Sbf2	C	A	7: 110,027,494 (GRCm39)	V501F	probably damaging	Het
Sh3bp1	T	A	15: 78,791,467 (GRCm39)	M354K	probably damaging	Het
Sipa1l3	T	C	7: 29,087,455 (GRCm39)	H590R	possibly damaging	Het
Slco6d1	T	A	1: 98,394,422 (GRCm39)	C369S	probably benign	Het
Sulf1	T	C	1: 12,875,418 (GRCm39)	Y143H	probably damaging	Het
Tiam2	A	T	17: 3,488,956 (GRCm39)	R755*	probably null	Het
Trim12c	C	A	7: 103,994,169 (GRCm39)	L228F	probably damaging	Het
Ttc23l	G	T	15: 10,530,743 (GRCm39)	Q290K	probably benign	Het
Uba3	T	C	6: 97,168,221 (GRCm39)		probably null	Het
Ugt1a10	A	G	1: 87,983,817 (GRCm39)	E205G	probably damaging	Het
Ugt3a1	T	A	15: 9,351,206 (GRCm39)	S72T	probably benign	Het
Upk3bl	C	T	5: 136,088,648 (GRCm39)	T113I	probably damaging	Het
Uspl1	T	A	5: 149,124,644 (GRCm39)	D20E	probably damaging	Het
Vmn2r19	G	A	6: 123,313,102 (GRCm39)	G724E	probably damaging	Het
Vmn2r63	T	A	7: 42,583,129 (GRCm39)	K29*	probably null	Het
Vwf	C	T	6: 125,619,744 (GRCm39)	A1474V	probably benign	Het
Xpc	C	T	6: 91,468,208 (GRCm39)	A860T	probably benign	Het
Zfp462	A	G	4: 55,013,689 (GRCm39)	H737R	probably damaging	Het
Zfp536	T	C	7: 37,180,244 (GRCm39)	D787G	probably damaging	Het
Zfp692	A	G	11: 58,205,053 (GRCm39)	H434R	probably damaging	Het
Zp1	C	A	19: 10,897,926 (GRCm39)	C5F	probably benign	Het

Other mutations in Pcdhb15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Pcdhb15	APN	18	37,608,207 (GRCm39)	missense	probably damaging	1.00
IGL01536:Pcdhb15	APN	18	37,608,046 (GRCm39)	missense	probably benign	0.01
IGL01664:Pcdhb15	APN	18	37,607,314 (GRCm39)	missense	probably benign	0.35
IGL02001:Pcdhb15	APN	18	37,607,091 (GRCm39)	missense	probably benign	0.01
IGL02161:Pcdhb15	APN	18	37,608,555 (GRCm39)	missense	possibly damaging	0.78
IGL02205:Pcdhb15	APN	18	37,607,010 (GRCm39)	missense	probably damaging	0.99
IGL02748:Pcdhb15	APN	18	37,608,273 (GRCm39)	missense	probably damaging	0.98
IGL02828:Pcdhb15	APN	18	37,606,903 (GRCm39)	missense	probably damaging	0.97
IGL02974:Pcdhb15	APN	18	37,608,067 (GRCm39)	missense	probably damaging	1.00
IGL03119:Pcdhb15	APN	18	37,608,067 (GRCm39)	missense	probably damaging	1.00
IGL03136:Pcdhb15	APN	18	37,608,067 (GRCm39)	missense	probably damaging	1.00
IGL03150:Pcdhb15	APN	18	37,608,067 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Pcdhb15	UTSW	18	37,608,724 (GRCm39)	missense	probably benign	0.15
R0266:Pcdhb15	UTSW	18	37,608,329 (GRCm39)	missense	probably damaging	1.00
R0288:Pcdhb15	UTSW	18	37,608,451 (GRCm39)	missense	probably damaging	1.00
R0399:Pcdhb15	UTSW	18	37,607,221 (GRCm39)	missense	possibly damaging	0.56
R0400:Pcdhb15	UTSW	18	37,608,948 (GRCm39)	missense	probably benign
R0637:Pcdhb15	UTSW	18	37,608,619 (GRCm39)	missense	probably damaging	1.00
R0714:Pcdhb15	UTSW	18	37,607,674 (GRCm39)	missense	probably damaging	0.98
R1118:Pcdhb15	UTSW	18	37,606,815 (GRCm39)	missense	probably benign	0.01
R1423:Pcdhb15	UTSW	18	37,606,975 (GRCm39)	missense	probably damaging	0.97
R1672:Pcdhb15	UTSW	18	37,607,713 (GRCm39)	missense	probably damaging	1.00
R1681:Pcdhb15	UTSW	18	37,606,866 (GRCm39)	missense	probably damaging	1.00
R1779:Pcdhb15	UTSW	18	37,609,084 (GRCm39)	missense	possibly damaging	0.95
R2206:Pcdhb15	UTSW	18	37,608,075 (GRCm39)	missense	probably benign	0.05
R2207:Pcdhb15	UTSW	18	37,608,075 (GRCm39)	missense	probably benign	0.05
R2274:Pcdhb15	UTSW	18	37,608,496 (GRCm39)	missense	probably damaging	1.00
R3406:Pcdhb15	UTSW	18	37,608,442 (GRCm39)	missense	probably benign	0.41
R3407:Pcdhb15	UTSW	18	37,607,442 (GRCm39)	missense	possibly damaging	0.80
R3417:Pcdhb15	UTSW	18	37,608,216 (GRCm39)	missense	probably damaging	1.00
R3752:Pcdhb15	UTSW	18	37,606,810 (GRCm39)	missense	probably damaging	1.00
R3773:Pcdhb15	UTSW	18	37,608,943 (GRCm39)	missense	probably benign	0.00
R4432:Pcdhb15	UTSW	18	37,608,565 (GRCm39)	missense	probably damaging	1.00
R4433:Pcdhb15	UTSW	18	37,608,565 (GRCm39)	missense	probably damaging	1.00
R4583:Pcdhb15	UTSW	18	37,608,628 (GRCm39)	missense	possibly damaging	0.91
R4612:Pcdhb15	UTSW	18	37,608,648 (GRCm39)	missense	probably damaging	0.96
R4988:Pcdhb15	UTSW	18	37,608,855 (GRCm39)	missense	probably damaging	0.98
R5635:Pcdhb15	UTSW	18	37,606,823 (GRCm39)	nonsense	probably null
R5692:Pcdhb15	UTSW	18	37,607,502 (GRCm39)	missense	probably benign	0.01
R5742:Pcdhb15	UTSW	18	37,607,820 (GRCm39)	missense	probably damaging	0.99
R5913:Pcdhb15	UTSW	18	37,607,707 (GRCm39)	missense	probably benign	0.07
R6350:Pcdhb15	UTSW	18	37,608,414 (GRCm39)	missense	probably damaging	1.00
R6522:Pcdhb15	UTSW	18	37,607,314 (GRCm39)	missense	probably benign	0.35
R6676:Pcdhb15	UTSW	18	37,607,860 (GRCm39)	missense	possibly damaging	0.60
R6693:Pcdhb15	UTSW	18	37,607,394 (GRCm39)	missense	probably benign	0.01
R6905:Pcdhb15	UTSW	18	37,607,748 (GRCm39)	missense	possibly damaging	0.95
R7029:Pcdhb15	UTSW	18	37,608,621 (GRCm39)	missense	possibly damaging	0.85
R7335:Pcdhb15	UTSW	18	37,607,389 (GRCm39)	missense	probably damaging	1.00
R7529:Pcdhb15	UTSW	18	37,607,526 (GRCm39)	nonsense	probably null
R7718:Pcdhb15	UTSW	18	37,608,216 (GRCm39)	missense	probably damaging	1.00
R7782:Pcdhb15	UTSW	18	37,607,788 (GRCm39)	missense	possibly damaging	0.88
R7967:Pcdhb15	UTSW	18	37,607,902 (GRCm39)	missense	probably damaging	1.00
R8170:Pcdhb15	UTSW	18	37,608,637 (GRCm39)	missense	probably damaging	1.00
R8323:Pcdhb15	UTSW	18	37,608,715 (GRCm39)	missense	probably benign	0.18
R8725:Pcdhb15	UTSW	18	37,608,734 (GRCm39)	missense	probably damaging	0.99
R8820:Pcdhb15	UTSW	18	37,606,971 (GRCm39)	missense	probably benign	0.03
R9117:Pcdhb15	UTSW	18	37,608,090 (GRCm39)	missense	probably damaging	1.00
R9280:Pcdhb15	UTSW	18	37,607,794 (GRCm39)	missense	probably damaging	1.00
R9367:Pcdhb15	UTSW	18	37,607,971 (GRCm39)	missense	possibly damaging	0.95
R9424:Pcdhb15	UTSW	18	37,607,263 (GRCm39)	missense
R9432:Pcdhb15	UTSW	18	37,608,683 (GRCm39)	missense	probably benign	0.04
R9498:Pcdhb15	UTSW	18	37,606,890 (GRCm39)	nonsense	probably null
R9544:Pcdhb15	UTSW	18	37,608,948 (GRCm39)	missense	probably benign
X0062:Pcdhb15	UTSW	18	37,609,068 (GRCm39)	nonsense	probably null
X0063:Pcdhb15	UTSW	18	37,608,137 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCACAGCCTTAGATGGTGGCTCTC -3'
(R):5'- TTTCCACAGATGGCTTCAGGACG -3'

Sequencing Primer
(F):5'- TAGATGGTGGCTCTCCACCC -3'
(R):5'- ACAGCAACAACTGTCTCTTGTG -3'

Posted On

2013-06-11