Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02299:Pcdhb5'

290235

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 #

IGL02299

Quality Score

Status

Chromosome

Chromosomal Location

37453434-37456966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37453943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 108 (F108L)

Ref Sequence

ENSEMBL: ENSMUSP00000077389 (fasta)

Gene Model

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

AlphaFold

Q91XZ5

Predicted Effect

probably benign
Transcript: ENSMUST00000078271
AA Change: F108L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000077389
Gene: ENSMUSG00000063687
AA Change: F108L

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot3	C	T	12: 84,105,585 (GRCm39)	Q351*	probably null	Het
Ano1	T	A	7: 144,143,812 (GRCm39)	H993L	possibly damaging	Het
Atp2c1	A	T	9: 105,338,286 (GRCm39)		probably benign	Het
Cd81	T	C	7: 142,619,015 (GRCm39)	I13T	probably damaging	Het
Clasp2	T	A	9: 113,709,057 (GRCm39)	D633E	probably damaging	Het
Ctif	T	C	18: 75,770,316 (GRCm39)	E23G	probably damaging	Het
Dnah3	G	T	7: 119,566,802 (GRCm39)	L2475I	probably benign	Het
Fscn2	A	G	11: 120,253,025 (GRCm39)	D164G	probably benign	Het
Igfn1	A	G	1: 135,881,755 (GRCm39)		probably benign	Het
Mast4	A	T	13: 102,874,482 (GRCm39)	S1629T	probably benign	Het
Mpp4	C	A	1: 59,197,738 (GRCm39)		probably benign	Het
Nmi	T	A	2: 51,848,976 (GRCm39)	N38I	probably damaging	Het
Nod2	T	A	8: 89,390,370 (GRCm39)	L226M	possibly damaging	Het
Notch4	T	C	17: 34,796,978 (GRCm39)	S909P	probably damaging	Het
Oas1a	A	T	5: 121,043,755 (GRCm39)	W126R	probably benign	Het
Plxna4	G	A	6: 32,142,091 (GRCm39)	P1589S	probably benign	Het
Qtrt1	A	G	9: 21,323,245 (GRCm39)	E32G	probably benign	Het
S100a3	A	G	3: 90,509,562 (GRCm39)	E69G	possibly damaging	Het
Slc1a6	C	A	10: 78,629,137 (GRCm39)	P185T	probably damaging	Het
Slc8a3	T	A	12: 81,361,998 (GRCm39)	I274F	probably damaging	Het
Smc6	A	G	12: 11,340,752 (GRCm39)	N468S	probably benign	Het
Tep1	A	G	14: 51,078,128 (GRCm39)	L1567P	probably damaging	Het
Ugt2b37	G	A	5: 87,390,174 (GRCm39)	S424L	probably benign	Het
Urgcp	A	G	11: 5,667,573 (GRCm39)	L255P	probably damaging	Het
Vmn2r44	T	A	7: 8,380,815 (GRCm39)	K359N	probably benign	Het
Xpo1	T	A	11: 23,243,915 (GRCm39)		probably benign	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
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

2015-04-16