Mutagenetix > Incidental Mutation

Incidental Mutation 'R4816:Pcdhb17'

369860

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb17

Ensembl Gene

ENSMUSG00000046387

Gene Name

protocadherin beta 17

Synonyms

Pcdhb16, PcdhbQ

MMRRC Submission

042434-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4816 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37618040-37621345 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37620450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 747 (S747P)

Ref Sequence

ENSEMBL: ENSMUSP00000055072 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051442] [ENSMUST00000053856] [ENSMUST00000055949] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91VD8

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: ENSMUST00000053856
AA Change: S747P

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000055072
Gene: ENSMUSG00000046387
AA Change: S747P

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	31	112	5.8e-35	PFAM
CA	155	240	2.42e-18	SMART
CA	264	345	8.03e-24	SMART
CA	368	449	5.81e-21	SMART
CA	473	559	8.15e-25	SMART
CA	589	670	6.34e-13	SMART
Pfam:Cadherin_C_2	686	770	1.8e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055949

SMART Domains

Protein: ENSMUSP00000052113
Gene: ENSMUSG00000048347

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:Cadherin_2	30	112	3.1e-34	PFAM
CA	155	240	7.97e-19	SMART
CA	264	345	6.27e-26	SMART
CA	368	449	2.63e-19	SMART
CA	473	559	7.09e-25	SMART
CA	589	670	2.87e-11	SMART
Pfam:Cadherin_C_2	687	771	7.9e-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

Meta Mutation Damage Score

0.0885

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

97% (113/116)

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 107 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	A	7: 45,754,131 (GRCm39)	A1562S	probably benign	Het
Adam30	C	A	3: 98,070,061 (GRCm39)	D631E	possibly damaging	Het
Adgrv1	T	C	13: 81,676,793 (GRCm39)	T2013A	probably damaging	Het
Ark2n	A	T	18: 77,740,995 (GRCm39)		probably null	Het
Baiap3	T	A	17: 25,466,269 (GRCm39)		probably benign	Het
Bicra	T	C	7: 15,722,831 (GRCm39)	T229A	possibly damaging	Het
C1qbp	A	G	11: 70,873,190 (GRCm39)		probably benign	Het
C2cd3	C	A	7: 100,040,226 (GRCm39)	T265K	probably benign	Het
Cacna1s	T	A	1: 136,043,007 (GRCm39)	I1331K	possibly damaging	Het
Cdadc1	AGACGGA	AGA	14: 59,806,440 (GRCm39)		probably null	Het
Cdcp2	A	G	4: 106,963,969 (GRCm39)	Y273C	probably damaging	Het
Cdh23	A	C	10: 60,244,856 (GRCm39)	V1013G	possibly damaging	Het
Celf3	T	A	3: 94,386,529 (GRCm39)	I39N	probably damaging	Het
Cep152	A	C	2: 125,405,674 (GRCm39)	S1619R	probably damaging	Het
Cfap36	A	G	11: 29,195,108 (GRCm39)	I42T	probably damaging	Het
Cfap61	G	T	2: 145,985,020 (GRCm39)	V955L	probably damaging	Het
Cit	G	A	5: 116,046,750 (GRCm39)	D388N	probably damaging	Het
Clca3a2	T	C	3: 144,516,613 (GRCm39)	M328V	probably benign	Het
Cntn4	A	T	6: 106,527,458 (GRCm39)	I447L	probably benign	Het
Csmd3	T	C	15: 47,721,330 (GRCm39)	T1538A	possibly damaging	Het
Cstf1	A	G	2: 172,214,905 (GRCm39)	K9E	probably damaging	Het
Dip2c	T	A	13: 9,625,186 (GRCm39)	M560K	probably benign	Het
Dsg1a	A	T	18: 20,466,779 (GRCm39)	T550S	probably benign	Het
Dtnb	A	G	12: 3,799,505 (GRCm39)	E460G	probably damaging	Het
Dus1l	GAGGTAAG	GAG	11: 120,680,584 (GRCm39)		probably benign	Het
Efl1	T	A	7: 82,320,927 (GRCm39)	V120E	probably damaging	Het
Fbxl13	T	C	5: 21,689,001 (GRCm39)	Y769C	probably benign	Het
Fcho2	T	C	13: 98,942,874 (GRCm39)	Y22C	probably damaging	Het
Flacc1	G	A	1: 58,709,567 (GRCm39)	A196V	probably benign	Het
Gbp3	T	C	3: 142,273,335 (GRCm39)	V294A	probably damaging	Het
Gls	A	G	1: 52,239,104 (GRCm39)		probably benign	Het
Gm15130	A	T	2: 110,965,714 (GRCm39)		probably benign	Het
Gm6185	A	T	1: 161,040,728 (GRCm39)		noncoding transcript	Het
Gpr171	T	A	3: 59,005,517 (GRCm39)	H86L	probably damaging	Het
Gpr179	T	C	11: 97,230,074 (GRCm39)	T694A	probably damaging	Het
H2-Aa	A	T	17: 34,502,794 (GRCm39)	V124E	probably damaging	Het
H2bc13	A	G	13: 21,900,135 (GRCm39)	M60T	probably benign	Het
H2-M5	A	G	17: 37,300,309 (GRCm39)		probably benign	Het
Igf2r	A	T	17: 12,902,984 (GRCm39)	N2355K	probably damaging	Het
Il9r	A	C	11: 32,142,654 (GRCm39)	S295A	possibly damaging	Het
Ipo9	T	C	1: 135,334,288 (GRCm39)	T313A	probably benign	Het
Kalrn	C	T	16: 34,334,389 (GRCm39)		probably benign	Het
Lama3	G	A	18: 12,610,661 (GRCm39)	V1175M	possibly damaging	Het
Lhpp	T	A	7: 132,272,104 (GRCm39)	C242*	probably null	Het
Lipe	A	G	7: 25,079,568 (GRCm39)	S1013P	probably damaging	Het
Lrrc25	C	T	8: 71,070,726 (GRCm39)	T169I	probably benign	Het
Lrrc39	T	C	3: 116,362,515 (GRCm39)		probably null	Het
Lrrd1	T	A	5: 3,901,126 (GRCm39)	L477*	probably null	Het
Lrriq4	A	G	3: 30,714,196 (GRCm39)	I515V	possibly damaging	Het
Magel2	A	G	7: 62,030,840 (GRCm39)	Y1248C	unknown	Het
Maml1	G	T	11: 50,149,162 (GRCm39)	N859K	possibly damaging	Het
Mdm1	A	T	10: 117,982,782 (GRCm39)	H139L	possibly damaging	Het
Mef2d	C	T	3: 88,075,397 (GRCm39)	P420S	possibly damaging	Het
Mgat4b	A	G	11: 50,101,848 (GRCm39)	K38E	probably benign	Het
Mtmr4	T	C	11: 87,494,923 (GRCm39)	V405A	probably damaging	Het
Naip5	T	C	13: 100,356,204 (GRCm39)	Q1137R	probably benign	Het
Naip5	G	A	13: 100,356,189 (GRCm39)	S1142F	probably benign	Het
Naip5	G	A	13: 100,356,195 (GRCm39)	T1140M	probably benign	Het
Nfe2l3	T	C	6: 51,433,604 (GRCm39)	S239P	probably damaging	Het
Nlrp3	A	G	11: 59,439,127 (GRCm39)	I235V	probably benign	Het
Nyap2	T	A	1: 81,219,028 (GRCm39)	L318Q	probably damaging	Het
Nynrin	G	A	14: 56,109,458 (GRCm39)	V1522M	probably damaging	Het
Oog3	A	G	4: 143,885,731 (GRCm39)	L289P	probably damaging	Het
Or52n20	C	T	7: 104,319,942 (GRCm39)	P11L	probably benign	Het
Or5b107	A	G	19: 13,142,488 (GRCm39)	I37V	probably benign	Het
Or6c69b	T	C	10: 129,627,308 (GRCm39)	D50G	probably damaging	Het
Or8b12b	T	A	9: 37,684,726 (GRCm39)	M257K	possibly damaging	Het
Or9g20	A	T	2: 85,630,391 (GRCm39)	N74K	probably benign	Het
Pax6	T	C	2: 105,514,129 (GRCm39)		probably benign	Het
Pbrm1	G	A	14: 30,832,405 (GRCm39)	R1441K	probably benign	Het
Pcdha9	C	T	18: 37,132,511 (GRCm39)	R527W	probably damaging	Het
Pcnx3	A	C	19: 5,738,023 (GRCm39)		probably null	Het
Pds5a	A	T	5: 65,808,632 (GRCm39)	V413E	probably damaging	Het
Phpt1	G	T	2: 25,464,332 (GRCm39)		probably benign	Het
Phykpl	A	G	11: 51,483,780 (GRCm39)	E220G	probably benign	Het
Pias2	T	C	18: 77,193,587 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,269,639 (GRCm39)	I3302L	probably damaging	Het
Poli	A	G	18: 70,655,822 (GRCm39)	L241P	probably damaging	Het
Ppm1h	T	A	10: 122,515,284 (GRCm39)	I65N	possibly damaging	Het
Ptpn14	T	C	1: 189,588,997 (GRCm39)	L954P	probably damaging	Het
Pxk	T	G	14: 8,136,893 (GRCm38)	M138R	probably damaging	Het
Rasl11b	G	T	5: 74,359,058 (GRCm39)	D188Y	probably damaging	Het
Rtraf	A	G	14: 19,872,644 (GRCm39)	F59S	probably benign	Het
Sanbr	A	C	11: 23,565,243 (GRCm39)	I248S	possibly damaging	Het
Serpinb5	G	T	1: 106,800,069 (GRCm39)	L86F	probably damaging	Het
Setdb2	G	A	14: 59,651,095 (GRCm39)	T412I	probably benign	Het
Shank2	C	A	7: 143,606,043 (GRCm39)	N75K	probably damaging	Het
Shank3	T	A	15: 89,427,318 (GRCm39)	I791N	probably damaging	Het
Slc25a13	T	A	6: 6,114,274 (GRCm39)	M213L	possibly damaging	Het
Slc25a21	T	C	12: 56,760,623 (GRCm39)	Y298C	probably damaging	Het
Slc34a2	A	G	5: 53,226,362 (GRCm39)	N495S	probably damaging	Het
Smc2	A	G	4: 52,451,231 (GRCm39)	T292A	probably benign	Het
Spag9	T	C	11: 93,939,425 (GRCm39)		probably benign	Het
Tas2r113	C	T	6: 132,870,745 (GRCm39)	P258S	probably benign	Het
Tbkbp1	T	C	11: 97,029,567 (GRCm39)	S530G	probably benign	Het
Tenm2	A	G	11: 35,918,117 (GRCm39)	V1881A	probably damaging	Het
Tm9sf1	C	T	14: 55,878,606 (GRCm39)	R262Q	possibly damaging	Het
Tmcc3	G	T	10: 94,414,646 (GRCm39)	G147V	possibly damaging	Het
Trim38	A	T	13: 23,972,264 (GRCm39)	E195V	probably damaging	Het
Try5	T	C	6: 41,290,349 (GRCm39)	Y45C	probably benign	Het
Umad1	A	C	6: 8,457,462 (GRCm39)		probably benign	Het
Vmn2r105	T	C	17: 20,428,953 (GRCm39)	I708V	probably benign	Het
Zc3h12d	A	T	10: 7,743,711 (GRCm39)	S494C	probably damaging	Het
Zeb2	A	G	2: 44,887,780 (GRCm39)	S382P	probably damaging	Het
Zfc3h1	A	G	10: 115,251,599 (GRCm39)	S1304G	probably benign	Het
Zfp287	G	T	11: 62,605,074 (GRCm39)	T611K	probably damaging	Het
Zfp534	G	A	4: 147,758,743 (GRCm39)	T642I	possibly damaging	Het

Other mutations in Pcdhb17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Pcdhb17	APN	18	37,619,059 (GRCm39)	splice site	probably null
IGL01367:Pcdhb17	APN	18	37,620,548 (GRCm39)	missense	probably benign	0.01
IGL01923:Pcdhb17	APN	18	37,619,790 (GRCm39)	missense	probably benign	0.43
IGL02060:Pcdhb17	APN	18	37,619,469 (GRCm39)	missense	probably damaging	1.00
IGL02494:Pcdhb17	APN	18	37,618,347 (GRCm39)	missense	possibly damaging	0.73
IGL02654:Pcdhb17	APN	18	37,619,614 (GRCm39)	missense	probably benign	0.03
IGL03168:Pcdhb17	APN	18	37,618,825 (GRCm39)	missense	probably benign	0.15
doughnut	UTSW	18	37,619,989 (GRCm39)	missense	probably damaging	1.00
miniscule	UTSW	18	37,618,720 (GRCm39)	missense	probably damaging	1.00
PIT4434001:Pcdhb17	UTSW	18	37,618,704 (GRCm39)	missense	probably damaging	1.00
R0364:Pcdhb17	UTSW	18	37,618,888 (GRCm39)	missense	possibly damaging	0.95
R1013:Pcdhb17	UTSW	18	37,619,020 (GRCm39)	missense	probably damaging	1.00
R1052:Pcdhb17	UTSW	18	37,619,899 (GRCm39)	missense	probably damaging	1.00
R1226:Pcdhb17	UTSW	18	37,620,313 (GRCm39)	missense	probably damaging	1.00
R1258:Pcdhb17	UTSW	18	37,618,587 (GRCm39)	missense	probably damaging	0.98
R1335:Pcdhb17	UTSW	18	37,619,287 (GRCm39)	missense	probably damaging	1.00
R1443:Pcdhb17	UTSW	18	37,619,701 (GRCm39)	missense	probably benign	0.15
R1451:Pcdhb17	UTSW	18	37,619,989 (GRCm39)	missense	probably damaging	1.00
R1505:Pcdhb17	UTSW	18	37,619,875 (GRCm39)	missense	probably damaging	1.00
R1591:Pcdhb17	UTSW	18	37,618,878 (GRCm39)	missense	probably damaging	1.00
R1742:Pcdhb17	UTSW	18	37,619,629 (GRCm39)	missense	probably damaging	0.99
R1750:Pcdhb17	UTSW	18	37,620,070 (GRCm39)	missense	possibly damaging	0.81
R1750:Pcdhb17	UTSW	18	37,618,764 (GRCm39)	missense	probably damaging	1.00
R1764:Pcdhb17	UTSW	18	37,620,324 (GRCm39)	missense	probably damaging	1.00
R1863:Pcdhb17	UTSW	18	37,619,164 (GRCm39)	missense	probably benign	0.00
R1888:Pcdhb17	UTSW	18	37,620,438 (GRCm39)	splice site	probably null
R1888:Pcdhb17	UTSW	18	37,620,438 (GRCm39)	splice site	probably null
R2095:Pcdhb17	UTSW	18	37,619,375 (GRCm39)	missense	probably benign	0.14
R4565:Pcdhb17	UTSW	18	37,619,523 (GRCm39)	missense	probably benign	0.14
R4658:Pcdhb17	UTSW	18	37,619,652 (GRCm39)	missense	probably damaging	1.00
R4669:Pcdhb17	UTSW	18	37,619,259 (GRCm39)	missense	probably damaging	0.99
R4910:Pcdhb17	UTSW	18	37,618,212 (GRCm39)	start codon destroyed	possibly damaging	0.90
R5209:Pcdhb17	UTSW	18	37,620,514 (GRCm39)	missense	probably damaging	1.00
R5248:Pcdhb17	UTSW	18	37,618,939 (GRCm39)	missense	probably benign	0.00
R5254:Pcdhb17	UTSW	18	37,619,878 (GRCm39)	missense	probably damaging	1.00
R5494:Pcdhb17	UTSW	18	37,620,300 (GRCm39)	missense	probably damaging	1.00
R5544:Pcdhb17	UTSW	18	37,620,474 (GRCm39)	missense	possibly damaging	0.61
R5952:Pcdhb17	UTSW	18	37,620,133 (GRCm39)	missense	probably benign	0.04
R5977:Pcdhb17	UTSW	18	37,618,720 (GRCm39)	missense	probably damaging	1.00
R6262:Pcdhb17	UTSW	18	37,619,751 (GRCm39)	missense	probably damaging	1.00
R6311:Pcdhb17	UTSW	18	37,619,316 (GRCm39)	splice site	probably null
R6495:Pcdhb17	UTSW	18	37,618,720 (GRCm39)	missense	probably damaging	1.00
R6710:Pcdhb17	UTSW	18	37,618,452 (GRCm39)	missense	probably damaging	0.96
R7097:Pcdhb17	UTSW	18	37,619,566 (GRCm39)	missense	probably benign
R7122:Pcdhb17	UTSW	18	37,619,566 (GRCm39)	missense	probably benign
R7130:Pcdhb17	UTSW	18	37,618,498 (GRCm39)	missense	probably damaging	1.00
R7437:Pcdhb17	UTSW	18	37,619,145 (GRCm39)	missense	probably benign	0.01
R7642:Pcdhb17	UTSW	18	37,618,779 (GRCm39)	missense	probably damaging	1.00
R7703:Pcdhb17	UTSW	18	37,619,801 (GRCm39)	missense	probably benign	0.01
R7771:Pcdhb17	UTSW	18	37,619,962 (GRCm39)	missense	possibly damaging	0.95
R7898:Pcdhb17	UTSW	18	37,618,233 (GRCm39)	missense	probably benign	0.00
R8028:Pcdhb17	UTSW	18	37,620,502 (GRCm39)	missense	probably benign	0.03
R8299:Pcdhb17	UTSW	18	37,618,408 (GRCm39)	missense	probably damaging	0.98
R8560:Pcdhb17	UTSW	18	37,619,206 (GRCm39)	missense	possibly damaging	0.92
R8844:Pcdhb17	UTSW	18	37,618,801 (GRCm39)	missense	probably benign	0.12
R8925:Pcdhb17	UTSW	18	37,620,372 (GRCm39)	missense	probably benign	0.40
R8927:Pcdhb17	UTSW	18	37,620,372 (GRCm39)	missense	probably benign	0.40
R9050:Pcdhb17	UTSW	18	37,620,286 (GRCm39)	missense	probably damaging	1.00
R9162:Pcdhb17	UTSW	18	37,620,168 (GRCm39)	missense	probably damaging	0.97
R9243:Pcdhb17	UTSW	18	37,619,989 (GRCm39)	missense	probably damaging	1.00
R9286:Pcdhb17	UTSW	18	37,619,422 (GRCm39)	missense	probably benign	0.26
R9472:Pcdhb17	UTSW	18	37,618,919 (GRCm39)	missense	probably damaging	1.00
R9617:Pcdhb17	UTSW	18	37,618,218 (GRCm39)	missense	probably benign
R9625:Pcdhb17	UTSW	18	37,619,419 (GRCm39)	nonsense	probably null
R9646:Pcdhb17	UTSW	18	37,618,471 (GRCm39)	missense	possibly damaging	0.64
X0062:Pcdhb17	UTSW	18	37,619,542 (GRCm39)	missense	probably benign
X0064:Pcdhb17	UTSW	18	37,619,484 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCTGGTCATAGCCTTGGCATC -3'
(R):5'- TCACAGGTGAACAGACATTAGC -3'

Sequencing Primer
(F):5'- ATAGCCTTGGCATCTGTGTC -3'
(R):5'- CAGGTGAACAGACATTAGCTAATC -3'

Posted On

2016-02-04