Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01816:Pcdhb13'

154392

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 #

IGL01816

Quality Score

Status

Chromosome

Chromosomal Location

37575570-37579262 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 37576028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 135 (R135S)

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 benign
Transcript: ENSMUST00000056915
AA Change: R135S

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

SMART Domains

Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: R135S

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,677,168 (GRCm39)	T1888S	probably benign	Het
Asxl3	T	C	18: 22,655,545 (GRCm39)	V1185A	probably benign	Het
Bmp8a	G	A	4: 123,210,190 (GRCm39)	R299C	probably damaging	Het
Cactin	T	C	10: 81,161,699 (GRCm39)	Y744H	possibly damaging	Het
Ccr2	A	T	9: 123,906,235 (GRCm39)	I172L	probably benign	Het
Cyp2j11	T	G	4: 96,183,161 (GRCm39)	Q469P	probably damaging	Het
Dync1i1	T	C	6: 5,767,146 (GRCm39)		probably null	Het
Epb41	A	G	4: 131,731,006 (GRCm39)	S192P	probably benign	Het
Gpd2	T	A	2: 57,254,078 (GRCm39)	Y601*	probably null	Het
Ift140	G	A	17: 25,305,999 (GRCm39)		probably null	Het
Obscn	A	G	11: 58,886,605 (GRCm39)		probably benign	Het
Or10j27	A	G	1: 172,957,840 (GRCm39)		probably benign	Het
Phtf2	A	T	5: 21,008,274 (GRCm39)	W136R	probably damaging	Het
Prpf40b	G	A	15: 99,213,099 (GRCm39)	A662T	probably damaging	Het
Retsat	A	G	6: 72,578,588 (GRCm39)	N100S	probably benign	Het
Saxo1	T	A	4: 86,363,851 (GRCm39)	M211L	probably benign	Het
Slc5a9	A	G	4: 111,755,811 (GRCm39)	L29P	probably damaging	Het
St14	A	G	9: 31,019,563 (GRCm39)	V86A	possibly damaging	Het
Tfap4	T	C	16: 4,369,956 (GRCm39)	N13S	probably 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
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
IGL03239:Pcdhb13	APN	18	37,575,888 (GRCm39)	missense	probably damaging	0.97
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

2014-02-04