Mutagenetix > Incidental Mutation

Incidental Mutation 'R5833:Pcdhb5'

449431

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb5

Ensembl Gene

ENSMUSG00000063687

Gene Name

protocadherin beta 5

Synonyms

PcdhbE, Pcdhb4A

MMRRC Submission

043221-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R5833 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37453434-37456966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37454155 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 178 (H178Q)

Ref Sequence

ENSEMBL: ENSMUSP00000077389 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078271] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91XZ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000078271
AA Change: H178Q

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000077389
Gene: ENSMUSG00000063687
AA Change: H178Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
CA	46	130	1.55e0	SMART
CA	154	239	2.42e-18	SMART
CA	263	344	1.27e-26	SMART
CA	367	448	1.14e-23	SMART
CA	472	558	2.38e-26	SMART
CA	588	669	7.06e-11	SMART
Pfam:Cadherin_C_2	686	769	3.1e-26	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: 99.8%
3x: 99.2%
10x: 95.7%
20x: 84.6%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcb4	T	C	5: 9,008,314 (GRCm39)	Y1161H	probably damaging	Het
Adcy2	T	A	13: 68,886,722 (GRCm39)	M276L	probably benign	Het
Adi1	A	G	12: 28,731,041 (GRCm39)	D166G	probably benign	Het
Arhgap44	T	G	11: 64,929,503 (GRCm39)	E267A	probably damaging	Het
Arl11	T	A	14: 61,548,511 (GRCm39)	L107Q	probably damaging	Het
C1qtnf3	A	G	15: 10,975,716 (GRCm39)	D247G	probably benign	Het
C4b	T	C	17: 34,949,647 (GRCm39)	D1481G	probably damaging	Het
Cacna1a	T	C	8: 85,245,326 (GRCm39)	F242L	probably damaging	Het
Ccnl1	T	C	3: 65,855,922 (GRCm39)	K298E	probably benign	Het
Dcaf5	A	G	12: 80,395,203 (GRCm39)	V322A	probably damaging	Het
Ddr2	T	C	1: 169,832,265 (GRCm39)	N175S	probably benign	Het
Enox1	T	A	14: 77,744,379 (GRCm39)	M21K	probably benign	Het
Fhad1	T	C	4: 141,729,838 (GRCm39)	D55G	probably damaging	Het
Gm5157	A	G	7: 20,919,318 (GRCm39)	M75T	possibly damaging	Het
Gm6309	A	G	5: 146,105,128 (GRCm39)	S262P	probably damaging	Het
Gpnmb	T	C	6: 49,020,952 (GRCm39)	L82P	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Itpripl2	A	C	7: 118,089,194 (GRCm39)	V455G	probably benign	Het
Kif16b	A	G	2: 142,549,287 (GRCm39)	V1087A	probably benign	Het
Med12l	A	G	3: 59,172,647 (GRCm39)	D1801G	possibly damaging	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Mtmr4	T	A	11: 87,495,875 (GRCm39)	Y570*	probably null	Het
Osbpl1a	G	T	18: 12,921,419 (GRCm39)	N128K	probably damaging	Het
Pdlim1	A	T	19: 40,218,989 (GRCm39)	F214Y	probably damaging	Het
Qki	A	T	17: 10,435,316 (GRCm39)	L236H	probably damaging	Het
Rexo2	G	T	9: 48,380,171 (GRCm39)	D220E	probably benign	Het
Rras	A	G	7: 44,670,715 (GRCm39)	E195G	possibly damaging	Het
Serpinb11	T	C	1: 107,305,392 (GRCm39)		probably null	Het
Sp1	T	A	15: 102,339,352 (GRCm39)	M430K	possibly damaging	Het
Tardbp	A	C	4: 148,702,117 (GRCm39)	V86G	probably damaging	Het
Trim43c	A	G	9: 88,725,090 (GRCm39)	Q203R	possibly damaging	Het
Vmn1r232	A	G	17: 21,133,913 (GRCm39)	L229P	probably damaging	Het

Other mutations in Pcdhb5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00504:Pcdhb5	APN	18	37,455,162 (GRCm39)	missense	probably damaging	1.00
IGL00895:Pcdhb5	APN	18	37,454,036 (GRCm39)	missense	probably benign	0.42
IGL00896:Pcdhb5	APN	18	37,455,838 (GRCm39)	splice site	probably null
IGL01385:Pcdhb5	APN	18	37,455,267 (GRCm39)	missense	probably benign	0.00
IGL01619:Pcdhb5	APN	18	37,455,992 (GRCm39)	missense	probably damaging	1.00
IGL01712:Pcdhb5	APN	18	37,454,306 (GRCm39)	missense	probably damaging	1.00
IGL01716:Pcdhb5	APN	18	37,454,075 (GRCm39)	missense	probably benign
IGL01719:Pcdhb5	APN	18	37,454,075 (GRCm39)	missense	probably benign
IGL01720:Pcdhb5	APN	18	37,454,075 (GRCm39)	missense	probably benign
IGL01723:Pcdhb5	APN	18	37,454,075 (GRCm39)	missense	probably benign
IGL01724:Pcdhb5	APN	18	37,454,075 (GRCm39)	missense	probably benign
IGL01839:Pcdhb5	APN	18	37,454,502 (GRCm39)	missense	probably damaging	0.98
IGL01884:Pcdhb5	APN	18	37,454,387 (GRCm39)	missense	probably benign	0.00
IGL01962:Pcdhb5	APN	18	37,454,093 (GRCm39)	missense	probably damaging	1.00
IGL02088:Pcdhb5	APN	18	37,455,012 (GRCm39)	missense	probably benign	0.11
IGL02299:Pcdhb5	APN	18	37,453,943 (GRCm39)	missense	probably benign
IGL02444:Pcdhb5	APN	18	37,454,103 (GRCm39)	missense	probably benign	0.01
IGL03372:Pcdhb5	APN	18	37,453,713 (GRCm39)	missense	probably benign	0.22
R0034:Pcdhb5	UTSW	18	37,455,137 (GRCm39)	missense	probably damaging	1.00
R0047:Pcdhb5	UTSW	18	37,454,321 (GRCm39)	missense	possibly damaging	0.87
R0179:Pcdhb5	UTSW	18	37,455,612 (GRCm39)	missense	probably damaging	1.00
R0466:Pcdhb5	UTSW	18	37,455,596 (GRCm39)	missense	probably damaging	1.00
R0471:Pcdhb5	UTSW	18	37,454,359 (GRCm39)	nonsense	probably null
R0565:Pcdhb5	UTSW	18	37,453,820 (GRCm39)	missense	possibly damaging	0.91
R0646:Pcdhb5	UTSW	18	37,454,675 (GRCm39)	missense	probably benign
R1014:Pcdhb5	UTSW	18	37,455,303 (GRCm39)	missense	probably damaging	1.00
R1617:Pcdhb5	UTSW	18	37,454,455 (GRCm39)	nonsense	probably null
R1676:Pcdhb5	UTSW	18	37,453,805 (GRCm39)	missense	probably benign	0.01
R1774:Pcdhb5	UTSW	18	37,455,725 (GRCm39)	missense	probably damaging	0.99
R1826:Pcdhb5	UTSW	18	37,454,522 (GRCm39)	nonsense	probably null
R1854:Pcdhb5	UTSW	18	37,455,393 (GRCm39)	missense	possibly damaging	0.94
R2355:Pcdhb5	UTSW	18	37,455,169 (GRCm39)	missense	probably benign
R4290:Pcdhb5	UTSW	18	37,455,734 (GRCm39)	missense	possibly damaging	0.90
R4292:Pcdhb5	UTSW	18	37,455,734 (GRCm39)	missense	possibly damaging	0.90
R4293:Pcdhb5	UTSW	18	37,455,734 (GRCm39)	missense	possibly damaging	0.90
R4294:Pcdhb5	UTSW	18	37,455,734 (GRCm39)	missense	possibly damaging	0.90
R4295:Pcdhb5	UTSW	18	37,455,734 (GRCm39)	missense	possibly damaging	0.90
R4391:Pcdhb5	UTSW	18	37,455,789 (GRCm39)	missense	possibly damaging	0.88
R4411:Pcdhb5	UTSW	18	37,455,050 (GRCm39)	missense	possibly damaging	0.80
R4480:Pcdhb5	UTSW	18	37,453,805 (GRCm39)	missense	probably benign	0.43
R4852:Pcdhb5	UTSW	18	37,455,524 (GRCm39)	missense	probably benign	0.04
R5121:Pcdhb5	UTSW	18	37,454,170 (GRCm39)	missense	probably benign	0.11
R5133:Pcdhb5	UTSW	18	37,453,943 (GRCm39)	missense	probably benign
R5630:Pcdhb5	UTSW	18	37,454,208 (GRCm39)	missense	possibly damaging	0.88
R5896:Pcdhb5	UTSW	18	37,455,732 (GRCm39)	nonsense	probably null
R5942:Pcdhb5	UTSW	18	37,453,838 (GRCm39)	nonsense	probably null
R5945:Pcdhb5	UTSW	18	37,454,523 (GRCm39)	missense	probably benign	0.08
R5970:Pcdhb5	UTSW	18	37,454,826 (GRCm39)	missense	probably damaging	1.00
R6045:Pcdhb5	UTSW	18	37,454,628 (GRCm39)	missense	probably damaging	1.00
R6054:Pcdhb5	UTSW	18	37,454,133 (GRCm39)	missense	probably damaging	0.98
R6147:Pcdhb5	UTSW	18	37,453,779 (GRCm39)	missense	probably damaging	1.00
R6152:Pcdhb5	UTSW	18	37,455,886 (GRCm39)	nonsense	probably null
R6193:Pcdhb5	UTSW	18	37,455,080 (GRCm39)	missense	probably damaging	1.00
R6397:Pcdhb5	UTSW	18	37,454,558 (GRCm39)	missense	probably benign	0.08
R6505:Pcdhb5	UTSW	18	37,453,933 (GRCm39)	missense	probably benign	0.00
R6608:Pcdhb5	UTSW	18	37,454,876 (GRCm39)	missense	probably damaging	0.98
R6737:Pcdhb5	UTSW	18	37,455,723 (GRCm39)	missense	probably damaging	1.00
R7146:Pcdhb5	UTSW	18	37,454,409 (GRCm39)	missense	probably damaging	1.00
R7162:Pcdhb5	UTSW	18	37,454,739 (GRCm39)	missense	probably benign	0.16
R7584:Pcdhb5	UTSW	18	37,455,425 (GRCm39)	missense	possibly damaging	0.90
R8214:Pcdhb5	UTSW	18	37,454,636 (GRCm39)	missense	probably benign	0.37
R8327:Pcdhb5	UTSW	18	37,453,953 (GRCm39)	missense	probably benign	0.00
R8676:Pcdhb5	UTSW	18	37,454,129 (GRCm39)	missense	probably benign	0.01
R9234:Pcdhb5	UTSW	18	37,453,695 (GRCm39)	missense	probably benign
R9424:Pcdhb5	UTSW	18	37,454,120 (GRCm39)	missense	probably damaging	1.00
R9505:Pcdhb5	UTSW	18	37,454,664 (GRCm39)	missense	possibly damaging	0.87
R9635:Pcdhb5	UTSW	18	37,454,510 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TTCCTAGAAAAGCCAGTGCAG -3'
(R):5'- ACTCAGGAGCATTGTCATTGATG -3'

Sequencing Primer
(F):5'- TTTCAAGGAGAATTATTGATCCAGG -3'
(R):5'- GATGTCCATGATCAGGATTCGAACC -3'

Posted On

2016-12-20