Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03239:Pcdhb13'

414202

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb13

Ensembl Gene

ENSMUSG00000047307

Gene Name

protocadherin beta 13

Synonyms

PcdhbM, Pcdbh6

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

IGL03239

Quality Score

Status

Chromosome

Chromosomal Location

37575570-37579262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 37575888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 89 (L89M)

Ref Sequence

ENSEMBL: ENSMUSP00000061087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052387] [ENSMUST00000055495] [ENSMUST00000056915] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91Y06

Predicted Effect

probably benign
Transcript: ENSMUST00000052387

SMART Domains

Protein: ENSMUSP00000054111
Gene: ENSMUSG00000044043

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	1.4e-35	PFAM
CA	155	240	1.53e-20	SMART
CA	264	345	3.52e-29	SMART
CA	368	449	2.24e-22	SMART
CA	473	559	2.38e-26	SMART
CA	589	670	4.12e-12	SMART
Pfam:Cadherin_C_2	685	768	4.9e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000055495

SMART Domains

Protein: ENSMUSP00000050357
Gene: ENSMUSG00000043458

Domain	Start	End	E-Value	Type
CA	53	130	1.67e-1	SMART
CA	154	239	3.69e-23	SMART
CA	263	343	6.56e-29	SMART
CA	366	447	5.9e-22	SMART
CA	471	557	4.24e-23	SMART
CA	587	668	1.01e-11	SMART
Pfam:Cadherin_C_2	685	768	4.8e-26	PFAM
low complexity region	778	790	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000056915
AA Change: L89M

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: L89M

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
CA	58	130	5.5e-1	SMART
CA	154	239	8.55e-19	SMART
CA	263	343	3.36e-26	SMART
CA	366	447	2.24e-22	SMART
CA	471	557	1.08e-24	SMART
CA	587	668	1.25e-11	SMART
Pfam:Cadherin_C_2	685	768	2.4e-23	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. Unlike the alpha and gamma clusters, the transcripts from these genes do not share common 3' exons. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell neural connections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	T	C	5: 99,381,835 (GRCm39)	Y309C	probably damaging	Het
Arvcf	G	T	16: 18,214,932 (GRCm39)	V44L	probably damaging	Het
Catsperg2	T	G	7: 29,397,141 (GRCm39)	S1121R	probably benign	Het
Ccdc190	G	T	1: 169,761,549 (GRCm39)	R217L	probably benign	Het
Chd8	G	A	14: 52,465,005 (GRCm39)	P619S	possibly damaging	Het
Cyp17a1	A	T	19: 46,655,796 (GRCm39)	W498R	probably damaging	Het
Dgka	A	G	10: 128,557,254 (GRCm39)		probably benign	Het
Ep300	A	G	15: 81,525,589 (GRCm39)	D1471G	unknown	Het
Htr2b	A	G	1: 86,027,414 (GRCm39)	F364S	probably damaging	Het
Kcnv1	A	G	15: 44,972,886 (GRCm39)		probably benign	Het
Lrrc37a	T	C	11: 103,390,233 (GRCm39)	T1731A	probably benign	Het
Mylip	A	G	13: 45,560,101 (GRCm39)	E179G	possibly damaging	Het
Olfm3	A	G	3: 114,916,243 (GRCm39)	R392G	probably damaging	Het
Pbk	T	A	14: 66,054,667 (GRCm39)	D266E	probably benign	Het
Pgap4	T	C	4: 49,586,034 (GRCm39)	Y378C	probably damaging	Het
Prdm5	T	G	6: 65,863,062 (GRCm39)		probably benign	Het
Rab3gap2	A	G	1: 184,982,091 (GRCm39)	D381G	probably damaging	Het
Sec24d	A	G	3: 123,130,138 (GRCm39)	N434D	probably benign	Het
Usp17la	C	T	7: 104,509,827 (GRCm39)	T144I	possibly damaging	Het
Usp35	T	C	7: 96,970,799 (GRCm39)	T336A	possibly damaging	Het

Other mutations in Pcdhb13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Pcdhb13	APN	18	37,576,774 (GRCm39)	missense	possibly damaging	0.56
IGL00718:Pcdhb13	APN	18	37,577,874 (GRCm39)	missense	possibly damaging	0.91
IGL01143:Pcdhb13	APN	18	37,575,690 (GRCm39)	missense	probably benign	0.01
IGL01816:Pcdhb13	APN	18	37,576,028 (GRCm39)	missense	probably benign	0.00
IGL01916:Pcdhb13	APN	18	37,576,914 (GRCm39)	missense	possibly damaging	0.64
IGL02063:Pcdhb13	APN	18	37,577,282 (GRCm39)	missense	probably damaging	1.00
IGL02153:Pcdhb13	APN	18	37,576,738 (GRCm39)	missense	probably damaging	1.00
IGL02332:Pcdhb13	APN	18	37,576,635 (GRCm39)	missense	probably benign	0.32
IGL02407:Pcdhb13	APN	18	37,576,128 (GRCm39)	missense	probably damaging	1.00
IGL02423:Pcdhb13	APN	18	37,577,392 (GRCm39)	missense	possibly damaging	0.95
IGL02514:Pcdhb13	APN	18	37,576,044 (GRCm39)	missense	possibly damaging	0.80
IGL03025:Pcdhb13	APN	18	37,575,817 (GRCm39)	missense	probably damaging	1.00
IGL03227:Pcdhb13	APN	18	37,576,711 (GRCm39)	missense	probably damaging	0.98
IGL03233:Pcdhb13	APN	18	37,577,318 (GRCm39)	missense	probably damaging	0.96
R0046:Pcdhb13	UTSW	18	37,577,310 (GRCm39)	missense	probably benign
R0172:Pcdhb13	UTSW	18	37,575,990 (GRCm39)	missense	probably benign	0.00
R0201:Pcdhb13	UTSW	18	37,575,634 (GRCm39)	missense	probably benign
R0594:Pcdhb13	UTSW	18	37,576,984 (GRCm39)	missense	probably damaging	1.00
R1235:Pcdhb13	UTSW	18	37,578,012 (GRCm39)	makesense	probably null
R1292:Pcdhb13	UTSW	18	37,576,885 (GRCm39)	missense	probably benign	0.43
R1481:Pcdhb13	UTSW	18	37,575,889 (GRCm39)	missense	probably damaging	1.00
R1991:Pcdhb13	UTSW	18	37,576,912 (GRCm39)	missense	possibly damaging	0.80
R2058:Pcdhb13	UTSW	18	37,577,620 (GRCm39)	missense	possibly damaging	0.95
R3508:Pcdhb13	UTSW	18	37,576,204 (GRCm39)	missense	probably damaging	0.99
R3713:Pcdhb13	UTSW	18	37,576,786 (GRCm39)	missense	probably damaging	1.00
R4125:Pcdhb13	UTSW	18	37,576,873 (GRCm39)	missense	probably damaging	1.00
R4741:Pcdhb13	UTSW	18	37,576,571 (GRCm39)	missense	probably benign	0.01
R4747:Pcdhb13	UTSW	18	37,577,868 (GRCm39)	missense	probably damaging	0.99
R4957:Pcdhb13	UTSW	18	37,577,837 (GRCm39)	missense	possibly damaging	0.95
R4973:Pcdhb13	UTSW	18	37,576,237 (GRCm39)	missense	probably benign	0.20
R5354:Pcdhb13	UTSW	18	37,577,844 (GRCm39)	missense	probably damaging	1.00
R5364:Pcdhb13	UTSW	18	37,576,561 (GRCm39)	missense	probably damaging	1.00
R5544:Pcdhb13	UTSW	18	37,576,573 (GRCm39)	missense	possibly damaging	0.92
R5897:Pcdhb13	UTSW	18	37,576,264 (GRCm39)	missense	probably benign	0.42
R6174:Pcdhb13	UTSW	18	37,576,474 (GRCm39)	missense	possibly damaging	0.84
R6702:Pcdhb13	UTSW	18	37,577,828 (GRCm39)	missense	probably benign	0.42
R6765:Pcdhb13	UTSW	18	37,576,663 (GRCm39)	missense	probably damaging	1.00
R6960:Pcdhb13	UTSW	18	37,576,509 (GRCm39)	missense	probably benign	0.45
R7144:Pcdhb13	UTSW	18	37,576,309 (GRCm39)	missense	probably damaging	1.00
R7225:Pcdhb13	UTSW	18	37,577,490 (GRCm39)	missense	possibly damaging	0.91
R7239:Pcdhb13	UTSW	18	37,577,697 (GRCm39)	missense	probably damaging	0.99
R7437:Pcdhb13	UTSW	18	37,577,728 (GRCm39)	missense	probably damaging	1.00
R7812:Pcdhb13	UTSW	18	37,575,645 (GRCm39)	missense	probably benign	0.00
R7964:Pcdhb13	UTSW	18	37,577,871 (GRCm39)	missense	possibly damaging	0.62
R8334:Pcdhb13	UTSW	18	37,577,853 (GRCm39)	missense	probably damaging	1.00
R8463:Pcdhb13	UTSW	18	37,576,287 (GRCm39)	missense	possibly damaging	0.94
R8476:Pcdhb13	UTSW	18	37,577,137 (GRCm39)	missense	probably damaging	1.00
R8501:Pcdhb13	UTSW	18	37,577,493 (GRCm39)	missense	probably damaging	1.00
R9248:Pcdhb13	UTSW	18	37,577,608 (GRCm39)	missense	probably damaging	1.00
R9569:Pcdhb13	UTSW	18	37,576,153 (GRCm39)	missense	probably damaging	1.00
X0023:Pcdhb13	UTSW	18	37,576,066 (GRCm39)	missense	probably damaging	1.00
X0028:Pcdhb13	UTSW	18	37,577,695 (GRCm39)	missense	possibly damaging	0.91
Z1176:Pcdhb13	UTSW	18	37,576,288 (GRCm39)	nonsense	probably null
Z1177:Pcdhb13	UTSW	18	37,575,633 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02