Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00775:Pcdhb22'

12932

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb22

Ensembl Gene

ENSMUSG00000073591

Gene Name

protocadherin beta 22

Synonyms

Pcdhb15, PcdhbV

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00775

Quality Score

Status

Chromosome

Chromosomal Location

37651402-37657532 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37652795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 421 (V421A)

Ref Sequence

ENSEMBL: ENSMUSP00000141521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061405] [ENSMUST00000097609] [ENSMUST00000115661] [ENSMUST00000192409] [ENSMUST00000194544]

AlphaFold

Q91XZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000061405

SMART Domains

Protein: ENSMUSP00000056424
Gene: ENSMUSG00000044022

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
Pfam:Cadherin_2	30	110	4.2e-30	PFAM
CA	153	238	1.8e-17	SMART
CA	262	343	1.54e-25	SMART
CA	367	448	1.03e-21	SMART
CA	472	558	3.41e-27	SMART
CA	588	669	1.54e-11	SMART
Pfam:Cadherin_C_2	686	769	1.5e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097609
AA Change: V164A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000095214
Gene: ENSMUSG00000073591
AA Change: V164A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Cadherin_2	28	110	5.8e-32	PFAM
CA	153	238	3.99e-19	SMART
CA	262	343	2.18e-25	SMART
CA	366	447	1.53e-20	SMART
CA	471	557	3.6e-26	SMART
CA	587	668	5.35e-11	SMART
Pfam:Cadherin_C_2	685	768	4.5e-28	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: ENSMUST00000192409
AA Change: V421A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000141521
Gene: ENSMUSG00000073591
AA Change: V421A

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Cadherin_2	27	110	2.5e-32	PFAM
CA	153	238	3.99e-19	SMART
CA	262	343	2.18e-25	SMART
CA	366	447	1.53e-20	SMART
CA	471	557	3.6e-26	SMART
CA	587	668	5.35e-11	SMART
transmembrane domain	689	711	N/A	INTRINSIC

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	A	G	7: 119,257,524 (GRCm39)	N403S	possibly damaging	Het
Adam32	T	C	8: 25,411,370 (GRCm39)	Y92C	probably damaging	Het
Ankfy1	G	A	11: 72,619,598 (GRCm39)	G157D	probably benign	Het
Cfap299	T	C	5: 98,932,369 (GRCm39)	Y190H	probably benign	Het
Champ1	T	C	8: 13,929,509 (GRCm39)	S556P	probably damaging	Het
Dnah8	T	G	17: 30,986,880 (GRCm39)	Y3176*	probably null	Het
Gbp8	T	C	5: 105,165,711 (GRCm39)	N314S	probably damaging	Het
Kif1c	A	G	11: 70,614,960 (GRCm39)		probably null	Het
Plag1	A	G	4: 3,904,055 (GRCm39)	S379P	probably damaging	Het
Skint11	A	T	4: 114,051,889 (GRCm39)	D79V	probably damaging	Het
Tdp2	A	G	13: 25,024,521 (GRCm39)	T273A	probably damaging	Het
Utrn	A	G	10: 12,620,974 (GRCm39)		probably null	Het
Zscan21	C	A	5: 138,131,310 (GRCm39)	S99*	probably null	Het

Other mutations in Pcdhb22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:Pcdhb22	APN	18	37,653,185 (GRCm39)	missense	probably damaging	1.00
IGL01414:Pcdhb22	APN	18	37,652,549 (GRCm39)	missense	probably damaging	1.00
IGL01819:Pcdhb22	APN	18	37,652,974 (GRCm39)	missense	probably damaging	1.00
IGL02232:Pcdhb22	APN	18	37,653,602 (GRCm39)	missense	probably damaging	1.00
IGL03226:Pcdhb22	APN	18	37,652,009 (GRCm39)	missense	probably damaging	1.00
chipper	UTSW	18	37,652,155 (GRCm39)	missense	probably benign	0.39
timber	UTSW	18	37,652,200 (GRCm39)	missense	probably damaging	1.00
R0071:Pcdhb22	UTSW	18	37,653,131 (GRCm39)	missense	probably damaging	1.00
R0363:Pcdhb22	UTSW	18	37,652,213 (GRCm39)	missense	probably benign	0.01
R0454:Pcdhb22	UTSW	18	37,651,925 (GRCm39)	missense	probably damaging	0.99
R0624:Pcdhb22	UTSW	18	37,651,780 (GRCm39)	missense	probably benign	0.00
R0707:Pcdhb22	UTSW	18	37,651,904 (GRCm39)	missense	probably damaging	1.00
R0918:Pcdhb22	UTSW	18	37,653,067 (GRCm39)	missense	probably damaging	1.00
R1112:Pcdhb22	UTSW	18	37,652,821 (GRCm39)	missense	possibly damaging	0.61
R1299:Pcdhb22	UTSW	18	37,653,643 (GRCm39)	missense	probably damaging	0.99
R1351:Pcdhb22	UTSW	18	37,651,627 (GRCm39)	missense	probably benign	0.10
R1488:Pcdhb22	UTSW	18	37,652,941 (GRCm39)	missense	possibly damaging	0.79
R1595:Pcdhb22	UTSW	18	37,653,506 (GRCm39)	missense	probably damaging	1.00
R1709:Pcdhb22	UTSW	18	37,651,553 (GRCm39)	missense	probably benign	0.31
R1725:Pcdhb22	UTSW	18	37,653,241 (GRCm39)	missense	probably benign	0.04
R1869:Pcdhb22	UTSW	18	37,652,200 (GRCm39)	missense	probably damaging	1.00
R1871:Pcdhb22	UTSW	18	37,652,200 (GRCm39)	missense	probably damaging	1.00
R1891:Pcdhb22	UTSW	18	37,652,357 (GRCm39)	missense	probably damaging	0.97
R4523:Pcdhb22	UTSW	18	37,653,474 (GRCm39)	missense	probably benign	0.05
R4825:Pcdhb22	UTSW	18	37,653,713 (GRCm39)	missense	possibly damaging	0.80
R4831:Pcdhb22	UTSW	18	37,653,615 (GRCm39)	missense	probably damaging	1.00
R4851:Pcdhb22	UTSW	18	37,652,087 (GRCm39)	missense	possibly damaging	0.89
R4978:Pcdhb22	UTSW	18	37,651,654 (GRCm39)	missense	probably benign	0.16
R5047:Pcdhb22	UTSW	18	37,652,179 (GRCm39)	missense	probably damaging	1.00
R5061:Pcdhb22	UTSW	18	37,652,179 (GRCm39)	missense	probably damaging	1.00
R5063:Pcdhb22	UTSW	18	37,652,179 (GRCm39)	missense	probably damaging	1.00
R5467:Pcdhb22	UTSW	18	37,653,188 (GRCm39)	missense	probably benign	0.02
R6005:Pcdhb22	UTSW	18	37,652,789 (GRCm39)	missense	possibly damaging	0.75
R6375:Pcdhb22	UTSW	18	37,651,357 (GRCm39)	intron	probably benign
R6418:Pcdhb22	UTSW	18	37,652,959 (GRCm39)	missense	possibly damaging	0.88
R6447:Pcdhb22	UTSW	18	37,653,269 (GRCm39)	missense	possibly damaging	0.91
R6748:Pcdhb22	UTSW	18	37,651,799 (GRCm39)	missense	probably damaging	0.99
R7195:Pcdhb22	UTSW	18	37,652,341 (GRCm39)	missense	probably damaging	1.00
R7243:Pcdhb22	UTSW	18	37,653,685 (GRCm39)	missense	probably benign	0.00
R7354:Pcdhb22	UTSW	18	37,653,311 (GRCm39)	missense	probably damaging	1.00
R7503:Pcdhb22	UTSW	18	37,652,155 (GRCm39)	missense	probably benign	0.39
R7765:Pcdhb22	UTSW	18	37,652,158 (GRCm39)	missense	probably damaging	0.99
R8201:Pcdhb22	UTSW	18	37,651,518 (GRCm39)	intron	probably benign
R8976:Pcdhb22	UTSW	18	37,651,396 (GRCm39)	intron	probably benign
R9059:Pcdhb22	UTSW	18	37,652,722 (GRCm39)	missense	probably damaging	1.00
R9072:Pcdhb22	UTSW	18	37,651,813 (GRCm39)	missense	probably damaging	1.00
R9082:Pcdhb22	UTSW	18	37,653,047 (GRCm39)	missense	probably damaging	1.00
R9299:Pcdhb22	UTSW	18	37,651,885 (GRCm39)	nonsense	probably null
R9725:Pcdhb22	UTSW	18	37,652,794 (GRCm39)	missense	probably damaging	0.99
R9796:Pcdhb22	UTSW	18	37,652,404 (GRCm39)	missense	possibly damaging	0.79
X0027:Pcdhb22	UTSW	18	37,653,904 (GRCm39)	missense	probably benign
Z1088:Pcdhb22	UTSW	18	37,652,398 (GRCm39)	missense	probably benign	0.39

Posted On

2012-12-06