Mutagenetix > Incidental Mutation

Incidental Mutation 'R7229:Pcdhb1'

562391

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb1

Ensembl Gene

ENSMUSG00000051663

Gene Name

protocadherin beta 1

Synonyms

PcdhbA

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R7229 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37264938-37267525 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37266687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 564 (Y564N)

Ref Sequence

ENSEMBL: ENSMUSP00000057519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052366] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y08

Predicted Effect

probably damaging
Transcript: ENSMUST00000052366
AA Change: Y564N

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

SMART Domains

Protein: ENSMUSP00000057519
Gene: ENSMUSG00000051663
AA Change: Y564N

Domain	Start	End	E-Value	Type
CA	45	131	1.04e-1	SMART
CA	155	240	1.23e-19	SMART
CA	264	345	8.4e-27	SMART
CA	369	450	5.31e-15	SMART
CA	474	560	6.27e-26	SMART
CA	590	671	6.05e-10	SMART
Pfam:Cadherin_C_2	687	772	4.7e-18	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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931414P19Rik	T	C	14: 54,595,352	E122G	probably benign	Het
Adamts2	T	C	11: 50,791,820	Y880H	probably damaging	Het
Atp13a4	A	G	16: 29,420,905	S830P	probably benign	Het
Atp1a3	T	A	7: 24,987,985	Q696L	probably benign	Het
Brox	G	A	1: 183,291,959	R85*	probably null	Het
C130073F10Rik	T	C	4: 101,890,242	I197V	probably benign	Het
Cand2	G	A	6: 115,791,192	V433M	probably damaging	Het
Cep83	A	G	10: 94,719,665	K74E	probably damaging	Het
Chrng	A	T	1: 87,209,444	T275S	probably benign	Het
Clca2	T	C	3: 145,084,108	D489G	probably damaging	Het
Cmtr1	A	G	17: 29,695,424		probably null	Het
Cnga1	T	C	5: 72,618,249	N43S	probably benign	Het
Cog8	A	T	8: 107,056,352	C102S	probably damaging	Het
Cpsf3	G	A	12: 21,296,737		probably null	Het
Cyp26b1	G	A	6: 84,577,150	Q162*	probably null	Het
Elmod3	A	G	6: 72,594,753	F14S	probably benign	Het
Eps8	A	G	6: 137,539,356	S9P	probably benign	Het
Fam105a	G	A	15: 27,658,187	T199M	probably benign	Het
Fam184b	T	C	5: 45,584,175	Q238R	probably damaging	Het
Fbxw7	T	C	3: 84,977,369	L654S	unknown	Het
Foxp1	A	T	6: 98,935,412	L580Q	unknown	Het
Galr1	A	G	18: 82,405,664	S163P	probably damaging	Het
Ganc	T	C	2: 120,427,775	F201L	possibly damaging	Het
Gin1	T	C	1: 97,785,151	F310L	probably benign	Het
Grik2	A	T	10: 49,101,416		probably null	Het
Haus1	A	T	18: 77,764,134	F94I	probably benign	Het
Hcn4	A	G	9: 58,853,399	Y409C	unknown	Het
Hspa1l	A	G	17: 34,977,255	K90R	probably benign	Het
Icam5	T	C	9: 21,037,001	S702P	possibly damaging	Het
Ifnar1	A	G	16: 91,499,556	H315R	probably benign	Het
Klra9	T	C	6: 130,191,261	H14R	probably damaging	Het
Krt78	A	G	15: 101,947,394	Y661H	probably benign	Het
Krtap11-1	T	C	16: 89,570,925	T69A	possibly damaging	Het
L3mbtl3	C	A	10: 26,292,662	S598I	unknown	Het
Lama1	A	T	17: 67,752,446	D608V		Het
Lrrc55	G	A	2: 85,196,440	T80I	probably damaging	Het
Lyst	A	T	13: 13,643,509	T1255S	probably benign	Het
Magi2	T	C	5: 20,465,588	V310A	probably damaging	Het
Med23	C	A	10: 24,902,004	A750D	probably benign	Het
Mmp2	G	A	8: 92,831,786	R161Q	probably damaging	Het
Myo15	A	T	11: 60,496,495	I733F	probably benign	Het
Ncan	A	T	8: 70,100,311	F1090L	possibly damaging	Het
Olfr701	T	G	7: 106,818,995	V304G	probably damaging	Het
Pafah1b1	A	G	11: 74,682,278	I320T	probably damaging	Het
Pear1	A	G	3: 87,750,289	S988P	probably benign	Het
Pgam2	A	C	11: 5,803,013	V194G	probably damaging	Het
Plvap	A	T	8: 71,511,577	I47N	probably damaging	Het
Prdx6	A	T	1: 161,247,297	L71H	probably damaging	Het
Psmb11	G	A	14: 54,625,951	V209M	probably damaging	Het
Ptprn2	G	A	12: 117,227,225		probably null	Het
Rcn2	T	A	9: 56,057,479	N240K	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Slc12a4	T	G	8: 105,946,737	Q734P	probably benign	Het
Smarcc2	T	A	10: 128,488,048	M1085K	unknown	Het
Smg1	A	T	7: 118,176,955	C1371S	probably benign	Het
Spg11	A	T	2: 122,108,104	F456L	probably damaging	Het
Srsf10	C	T	4: 135,856,217		probably benign	Het
Stxbp5	T	C	10: 9,798,187	Y4C	probably damaging	Het
Tdrd12	T	A	7: 35,480,280	D881V	unknown	Het
Tmem171	T	C	13: 98,692,625	T6A	probably benign	Het
Tmem220	T	C	11: 67,026,163	L55P	unknown	Het
Ttn	G	T	2: 76,846,781	P11037Q	unknown	Het
Tulp4	C	T	17: 6,231,780	H695Y	probably damaging	Het
Usp47	T	C	7: 112,092,877	S849P	probably benign	Het
Vcan	G	A	13: 89,705,270	P524S	possibly damaging	Het
Vmn1r18	A	G	6: 57,390,098	M157T	probably benign	Het
Vmn2r109	A	T	17: 20,540,963	C711S	possibly damaging	Het
Wasf3	C	T	5: 146,455,653	R178C	probably damaging	Het
Wdr76	G	A	2: 121,528,920	V231I	probably damaging	Het
Xirp2	A	T	2: 67,525,551	N3552I	probably damaging	Het
Zfp804a	A	G	2: 82,258,625	T933A	probably benign	Het
Zmynd8	A	G	2: 165,858,053		probably null	Het
Zranb3	A	T	1: 128,040,893	I95K	probably benign	Het

Other mutations in Pcdhb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01547:Pcdhb1	APN	18	37267342	missense	probably benign	0.06
IGL01622:Pcdhb1	APN	18	37266313	missense	possibly damaging	0.73
IGL01623:Pcdhb1	APN	18	37266313	missense	possibly damaging	0.73
IGL01663:Pcdhb1	APN	18	37267133	missense	possibly damaging	0.83
IGL01665:Pcdhb1	APN	18	37267397	missense	probably benign	0.01
IGL01780:Pcdhb1	APN	18	37266522	missense	probably damaging	1.00
IGL02121:Pcdhb1	APN	18	37265785	missense	probably benign	0.06
IGL02468:Pcdhb1	APN	18	37266178	missense	probably benign	0.21
IGL02602:Pcdhb1	APN	18	37266796	missense	probably damaging	1.00
K3955:Pcdhb1	UTSW	18	37265973	missense	probably damaging	1.00
R0242:Pcdhb1	UTSW	18	37266735	missense	probably benign	0.17
R0242:Pcdhb1	UTSW	18	37266735	missense	probably benign	0.17
R0329:Pcdhb1	UTSW	18	37267024	missense	possibly damaging	0.59
R0627:Pcdhb1	UTSW	18	37265721	missense	probably damaging	1.00
R0848:Pcdhb1	UTSW	18	37267422	missense	probably benign	0.00
R1187:Pcdhb1	UTSW	18	37265544	missense	probably damaging	1.00
R1290:Pcdhb1	UTSW	18	37265230	missense	possibly damaging	0.54
R1928:Pcdhb1	UTSW	18	37266180	nonsense	probably null
R1957:Pcdhb1	UTSW	18	37265707	missense	probably damaging	1.00
R2897:Pcdhb1	UTSW	18	37266463	missense	probably damaging	1.00
R2898:Pcdhb1	UTSW	18	37266463	missense	probably damaging	1.00
R3037:Pcdhb1	UTSW	18	37265113	missense	probably damaging	1.00
R4193:Pcdhb1	UTSW	18	37267146	missense	probably damaging	0.99
R4291:Pcdhb1	UTSW	18	37265417	missense	probably damaging	1.00
R4308:Pcdhb1	UTSW	18	37266661	missense	probably benign	0.00
R4332:Pcdhb1	UTSW	18	37265530	missense	probably damaging	1.00
R4606:Pcdhb1	UTSW	18	37265528	nonsense	probably null
R4637:Pcdhb1	UTSW	18	37265749	missense	possibly damaging	0.95
R5159:Pcdhb1	UTSW	18	37266363	missense	possibly damaging	0.89
R5207:Pcdhb1	UTSW	18	37266462	missense	probably damaging	1.00
R5211:Pcdhb1	UTSW	18	37266651	missense	probably benign	0.06
R5273:Pcdhb1	UTSW	18	37265713	missense	probably benign	0.23
R5335:Pcdhb1	UTSW	18	37267255	missense	probably benign	0.00
R5398:Pcdhb1	UTSW	18	37266154	missense	probably damaging	1.00
R5452:Pcdhb1	UTSW	18	37265758	missense	possibly damaging	0.94
R5837:Pcdhb1	UTSW	18	37265827	missense	possibly damaging	0.57
R5882:Pcdhb1	UTSW	18	37267177	missense	probably benign	0.05
R5947:Pcdhb1	UTSW	18	37266673	missense	possibly damaging	0.74
R6109:Pcdhb1	UTSW	18	37265253	missense	possibly damaging	0.69
R7052:Pcdhb1	UTSW	18	37266529	missense	probably damaging	1.00
R7082:Pcdhb1	UTSW	18	37266991	missense	probably damaging	0.99
R7137:Pcdhb1	UTSW	18	37267392	missense	possibly damaging	0.69
R7392:Pcdhb1	UTSW	18	37265118	missense	possibly damaging	0.95
R7993:Pcdhb1	UTSW	18	37266991	missense	probably damaging	1.00
R8704:Pcdhb1	UTSW	18	37266349	missense	possibly damaging	0.51
R9498:Pcdhb1	UTSW	18	37265463	missense	probably damaging	0.99
R9703:Pcdhb1	UTSW	18	37265966	missense	probably damaging	1.00
R9757:Pcdhb1	UTSW	18	37267249	missense	probably benign	0.24
T0970:Pcdhb1	UTSW	18	37265973	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTAACATACTCCCTGCTGCC -3'
(R):5'- CAGATATCTGCCTCAGTGTACG -3'

Sequencing Primer
(F):5'- CCAAAGAGTGGTGATCTGTCAGTC -3'
(R):5'- GATATCTGCCTCAGTGTACGTATTTC -3'

Posted On

2019-06-26