Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01770:Pcdhb2'

278883

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb2

Ensembl Gene

ENSMUSG00000051599

Gene Name

protocadherin beta 2

Synonyms

PcdhbB

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL01770

Quality Score

Status

Chromosome

Chromosomal Location

37427893-37430667 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37429356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 86 (V86G)

Ref Sequence

ENSEMBL: ENSMUSP00000141439 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051754] [ENSMUST00000056522] [ENSMUST00000115661] [ENSMUST00000193137] [ENSMUST00000194544]

AlphaFold

Q91Y00

Predicted Effect

probably benign
Transcript: ENSMUST00000051754

SMART Domains

Protein: ENSMUSP00000059180
Gene: ENSMUSG00000045498

Domain	Start	End	E-Value	Type
low complexity region	14	28	N/A	INTRINSIC
CA	44	131	6.29e-1	SMART
CA	155	240	7.16e-21	SMART
CA	264	345	1.22e-23	SMART
CA	368	449	2.86e-20	SMART
CA	473	559	2.55e-26	SMART
CA	589	670	1.11e-8	SMART
Pfam:Cadherin_C_2	687	770	9.9e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000056522
AA Change: V443G

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

SMART Domains

Protein: ENSMUSP00000057921
Gene: ENSMUSG00000051599
AA Change: V443G

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	32	114	5.2e-33	PFAM
CA	157	242	1.74e-19	SMART
CA	266	347	5.99e-23	SMART
CA	370	451	1.16e-20	SMART
CA	475	561	5.94e-27	SMART
CA	591	672	2.03e-11	SMART
Pfam:Cadherin_C_2	688	771	3.5e-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 damaging
Transcript: ENSMUST00000193137
AA Change: V86G

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

SMART Domains

Protein: ENSMUSP00000141439
Gene: ENSMUSG00000051599
AA Change: V86G

Domain	Start	End	E-Value	Type
CA	13	94	1.8e-22	SMART

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	T	C	1: 177,604,075 (GRCm39)	S177G	possibly damaging	Het
Fbxw2	G	A	2: 34,701,038 (GRCm39)	T194I	possibly damaging	Het
Il16	A	T	7: 83,322,234 (GRCm39)		probably benign	Het
Klra5	A	T	6: 129,883,627 (GRCm39)	C77S	probably damaging	Het
Mterf4	G	A	1: 93,232,716 (GRCm39)	T45I	probably damaging	Het
Or1j17	G	A	2: 36,578,117 (GRCm39)	M34I	probably benign	Het
Pkd1l3	A	G	8: 110,375,134 (GRCm39)		probably null	Het
Prrc2c	A	T	1: 162,532,068 (GRCm39)	S1516T	probably benign	Het
Shisa3	G	A	5: 67,768,408 (GRCm39)	G103S	probably damaging	Het
St3gal4	A	C	9: 34,963,601 (GRCm39)	F236V	possibly damaging	Het
Vmn1r57	A	G	7: 5,223,667 (GRCm39)	D64G	possibly damaging	Het
Vmn2r98	A	G	17: 19,286,702 (GRCm39)	Y400C	probably damaging	Het

Other mutations in Pcdhb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00430:Pcdhb2	APN	18	37,429,516 (GRCm39)	splice site	probably null
IGL01538:Pcdhb2	APN	18	37,428,375 (GRCm39)	nonsense	probably null
IGL01716:Pcdhb2	APN	18	37,429,791 (GRCm39)	missense	probably damaging	0.99
IGL01747:Pcdhb2	APN	18	37,429,356 (GRCm39)	missense	probably damaging	1.00
IGL01999:Pcdhb2	APN	18	37,429,890 (GRCm39)	missense	probably damaging	1.00
IGL02174:Pcdhb2	APN	18	37,429,551 (GRCm39)	missense	probably damaging	1.00
IGL02325:Pcdhb2	APN	18	37,429,733 (GRCm39)	missense	possibly damaging	0.91
IGL03148:Pcdhb2	APN	18	37,429,831 (GRCm39)	missense	probably damaging	1.00
IGL03263:Pcdhb2	APN	18	37,429,059 (GRCm39)	missense	probably damaging	1.00
R0158:Pcdhb2	UTSW	18	37,430,283 (GRCm39)	missense	probably damaging	1.00
R0512:Pcdhb2	UTSW	18	37,429,032 (GRCm39)	missense	probably damaging	1.00
R0656:Pcdhb2	UTSW	18	37,428,543 (GRCm39)	missense	probably damaging	1.00
R0670:Pcdhb2	UTSW	18	37,429,701 (GRCm39)	missense	probably damaging	1.00
R0698:Pcdhb2	UTSW	18	37,430,419 (GRCm39)	missense	probably benign	0.00
R0825:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0827:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0862:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R0863:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R1344:Pcdhb2	UTSW	18	37,428,710 (GRCm39)	missense	possibly damaging	0.61
R1440:Pcdhb2	UTSW	18	37,429,343 (GRCm39)	missense	probably benign	0.22
R1826:Pcdhb2	UTSW	18	37,429,038 (GRCm39)	missense	probably damaging	0.99
R1828:Pcdhb2	UTSW	18	37,429,038 (GRCm39)	missense	probably damaging	0.99
R1869:Pcdhb2	UTSW	18	37,430,408 (GRCm39)	splice site	probably null
R1871:Pcdhb2	UTSW	18	37,430,408 (GRCm39)	splice site	probably null
R2292:Pcdhb2	UTSW	18	37,430,297 (GRCm39)	splice site	probably null
R3743:Pcdhb2	UTSW	18	37,429,470 (GRCm39)	missense	probably damaging	1.00
R4067:Pcdhb2	UTSW	18	37,430,367 (GRCm39)	splice site	probably null
R4127:Pcdhb2	UTSW	18	37,428,594 (GRCm39)	missense	probably damaging	0.97
R4402:Pcdhb2	UTSW	18	37,428,455 (GRCm39)	missense	probably benign	0.05
R4579:Pcdhb2	UTSW	18	37,429,168 (GRCm39)	missense	probably damaging	1.00
R4621:Pcdhb2	UTSW	18	37,428,980 (GRCm39)	missense	probably benign	0.44
R4678:Pcdhb2	UTSW	18	37,429,260 (GRCm39)	missense	probably damaging	1.00
R5143:Pcdhb2	UTSW	18	37,429,785 (GRCm39)	missense	probably damaging	1.00
R5152:Pcdhb2	UTSW	18	37,429,179 (GRCm39)	missense	probably damaging	0.97
R6552:Pcdhb2	UTSW	18	37,429,046 (GRCm39)	missense	probably benign
R6908:Pcdhb2	UTSW	18	37,429,577 (GRCm39)	missense	probably damaging	1.00
R6973:Pcdhb2	UTSW	18	37,429,416 (GRCm39)	missense	probably benign	0.03
R7143:Pcdhb2	UTSW	18	37,428,934 (GRCm39)	missense	probably benign	0.05
R7248:Pcdhb2	UTSW	18	37,429,547 (GRCm39)	missense	probably damaging	1.00
R7586:Pcdhb2	UTSW	18	37,428,857 (GRCm39)	nonsense	probably null
R7634:Pcdhb2	UTSW	18	37,428,000 (GRCm39)	intron	probably benign
R7796:Pcdhb2	UTSW	18	37,428,446 (GRCm39)	missense	possibly damaging	0.63
R7862:Pcdhb2	UTSW	18	37,429,113 (GRCm39)	missense	probably benign	0.25
R8415:Pcdhb2	UTSW	18	37,429,110 (GRCm39)	missense	probably damaging	0.97
R8950:Pcdhb2	UTSW	18	37,429,715 (GRCm39)	missense	probably damaging	1.00
R9351:Pcdhb2	UTSW	18	37,429,369 (GRCm39)	missense	probably damaging	1.00
R9360:Pcdhb2	UTSW	18	37,429,551 (GRCm39)	missense	probably damaging	1.00
R9592:Pcdhb2	UTSW	18	37,429,266 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16