Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01619:Pcdhb5'

92526

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb5

Ensembl Gene

ENSMUSG00000063687

Gene Name

protocadherin beta 5

Synonyms

PcdhbE, Pcdhb4A

Accession Numbers

Essential gene?

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

Stock #

IGL01619

Quality Score

Status

Chromosome

Chromosomal Location

37453434-37456966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37455992 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 791 (F791L)

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: F791L

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

SMART Domains

Protein: ENSMUSP00000077389
Gene: ENSMUSG00000063687
AA Change: F791L

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

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd46	T	C	15: 36,486,113 (GRCm39)	T47A	possibly damaging	Het
Asxl3	T	G	18: 22,656,385 (GRCm39)	V1465G	probably damaging	Het
Celsr3	A	T	9: 108,711,756 (GRCm39)	D1657V	probably damaging	Het
Celsr3	A	G	9: 108,714,603 (GRCm39)	H1995R	probably benign	Het
Cimip2b	G	A	4: 43,427,814 (GRCm39)	T170I	possibly damaging	Het
Cntn6	G	A	6: 104,705,335 (GRCm39)		probably benign	Het
Def6	C	T	17: 28,426,838 (GRCm39)	L8F	probably damaging	Het
Dnah9	T	A	11: 65,722,441 (GRCm39)	K1940*	probably null	Het
Dock10	A	G	1: 80,612,015 (GRCm39)		probably benign	Het
Fam72a	A	G	1: 131,461,650 (GRCm39)	I112V	probably benign	Het
Fgl1	A	T	8: 41,650,008 (GRCm39)	W258R	probably damaging	Het
Ints6l	G	T	X: 55,542,104 (GRCm39)		probably benign	Het
Lifr	A	T	15: 7,220,643 (GRCm39)	N1091I	probably damaging	Het
Mga	T	C	2: 119,762,309 (GRCm39)	I1100T	possibly damaging	Het
Mrpl40	T	A	16: 18,691,294 (GRCm39)	M139L	probably benign	Het
Myom1	T	C	17: 71,351,471 (GRCm39)		probably benign	Het
Or2m12	T	A	16: 19,104,909 (GRCm39)	T195S	probably damaging	Het
Prss29	T	C	17: 25,540,113 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,299,900 (GRCm39)		probably null	Het
Serpinb9e	A	G	13: 33,439,108 (GRCm39)	K178R	probably damaging	Het
Shtn1	A	G	19: 59,016,601 (GRCm39)	S233P	probably damaging	Het
Smpd1	G	A	7: 105,204,549 (GRCm39)	V143M	possibly damaging	Het
Terb1	G	A	8: 105,199,646 (GRCm39)	H433Y	probably benign	Het
Traf6	C	T	2: 101,520,443 (GRCm39)	Q164*	probably null	Het
Trip12	C	A	1: 84,792,631 (GRCm39)	R4L	probably damaging	Het
Ttn	G	A	2: 76,693,879 (GRCm39)	P208S	possibly damaging	Het
Ube2c	T	C	2: 164,613,232 (GRCm39)	I50T	probably damaging	Het
Uggt1	T	C	1: 36,200,775 (GRCm39)	D1174G	probably damaging	Het
Vmn2r121	T	G	X: 123,041,997 (GRCm39)	M387L	probably benign	Het
Vmn2r18	T	A	5: 151,510,229 (GRCm39)	N48I	probably benign	Het
Zc3h15	T	C	2: 83,490,517 (GRCm39)	L217P	probably damaging	Het
Zyg11a	T	A	4: 108,062,414 (GRCm39)	E129V	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
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
R5833:Pcdhb5	UTSW	18	37,454,155 (GRCm39)	missense	probably damaging	0.99
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

Posted On

2013-12-09