Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01547:Pcdhb1'

90371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb1

Ensembl Gene

ENSMUSG00000051663

Gene Name

protocadherin beta 1

Synonyms

PcdhbA

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL01547

Quality Score

Status

Chromosome

Chromosomal Location

37264938-37267525 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37267342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 782 (H782R)

Ref Sequence

ENSEMBL: ENSMUSP00000057519 (fasta)

Gene Model

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

AlphaFold

Q91Y08

Predicted Effect

probably benign
Transcript: ENSMUST00000052366
AA Change: H782R

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000057519
Gene: ENSMUSG00000051663
AA Change: H782R

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

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. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	G	A	4: 137,455,262	G243R	possibly damaging	Het
Afg3l1	T	C	8: 123,501,351	V625A	probably benign	Het
Arhgap39	T	C	15: 76,737,815		probably benign	Het
Bag1	A	G	4: 40,936,661	C332R	probably damaging	Het
Bcas2	T	C	3: 103,171,999	Y49H	probably damaging	Het
Cacna1b	C	A	2: 24,632,035		probably benign	Het
Cdyl	A	G	13: 35,790,162	D53G	possibly damaging	Het
Csmd3	T	C	15: 47,883,617	I1322V	probably benign	Het
Evc2	C	A	5: 37,393,087	A815E	probably benign	Het
Gm6309	C	T	5: 146,168,411	D231N	probably benign	Het
Mtfr2	C	T	10: 20,357,599	P305S	probably damaging	Het
Olfr301	A	G	7: 86,412,871	N170D	possibly damaging	Het
Olfr639	A	T	7: 104,012,660	I14N	probably benign	Het
Olfr77	A	T	9: 19,920,901	I231F	probably benign	Het
Polr2a	A	G	11: 69,744,942	S480P	probably damaging	Het
Scaf11	T	C	15: 96,418,429	T1085A	probably benign	Het
Sema6c	C	T	3: 95,172,398	R668C	probably damaging	Het
Tas2r123	C	T	6: 132,847,458	T106I	probably damaging	Het
Tgm5	A	G	2: 121,049,202		probably benign	Het
Vmn2r23	T	A	6: 123,704,424	I97N	possibly damaging	Het
Vmn2r6	T	A	3: 64,538,104	K644N	probably damaging	Het
Zfp608	A	G	18: 54,894,449		probably null	Het

Other mutations in Pcdhb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7229:Pcdhb1	UTSW	18	37266687	missense	probably damaging	1.00
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

Posted On

2013-12-03