Mutagenetix > Incidental Mutation

Incidental Mutation 'R0201:Pcdhb13'

23686

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb13

Ensembl Gene

ENSMUSG00000047307

Gene Name

protocadherin beta 13

Synonyms

PcdhbM, Pcdbh6

MMRRC Submission

038458-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R0201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37442500-37446209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37442581 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 4 (A4V)

Ref Sequence

ENSEMBL: ENSMUSP00000061087 (fasta)

Gene Model

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

AlphaFold

Q91Y06

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: A4V

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

SMART Domains

Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: A4V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

97% (91/94)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	A	G	14: 68,581,957		probably null	Het
Adamts16	T	A	13: 70,779,644	Q492L	possibly damaging	Het
Aplnr	A	G	2: 85,137,177	D182G	probably damaging	Het
Arnt2	G	T	7: 84,361,659	S3*	probably null	Het
Asxl3	T	C	18: 22,523,154	V1407A	probably benign	Het
Atg13	A	T	2: 91,684,762		probably null	Het
Atm	A	T	9: 53,454,279		probably benign	Het
Birc6	T	G	17: 74,609,327	V1746G	possibly damaging	Het
Cbln1	G	T	8: 87,472,113	T43K	probably benign	Het
Cbx5	T	C	15: 103,199,700	T173A	probably damaging	Het
Cc2d2a	A	G	5: 43,737,512	Y1437C	probably damaging	Het
Ccdc78	C	A	17: 25,789,236		probably benign	Het
Cd2bp2	A	G	7: 127,193,828	Y341H	probably damaging	Het
Cdhr5	T	A	7: 141,276,378	D88V	probably damaging	Het
Ces1f	T	A	8: 93,267,329	T275S	probably null	Het
Clca4a	T	C	3: 144,960,717	N458S	probably benign	Het
Cog5	A	G	12: 31,839,841	K521R	probably damaging	Het
Csf2ra	T	A	19: 61,225,568	T305S	probably benign	Het
Csmd3	T	A	15: 47,619,729		probably benign	Het
Cts6	T	A	13: 61,201,499	R132*	probably null	Het
D5Ertd579e	G	T	5: 36,616,465	N195K	probably damaging	Het
Ddx1	A	G	12: 13,223,808	V606A	probably damaging	Het
Dip2b	G	A	15: 100,186,147	D884N	probably damaging	Het
Ehhadh	A	G	16: 21,773,493		probably null	Het
Enpp1	T	A	10: 24,653,917	T608S	probably benign	Het
Fancm	T	C	12: 65,101,632	Y674H	probably damaging	Het
Fat4	T	A	3: 38,891,596	V1546D	probably damaging	Het
Fsd1	G	A	17: 55,990,522	A158T	probably benign	Het
Fzd2	T	A	11: 102,606,122	M464K	probably damaging	Het
Gjc2	A	G	11: 59,177,590	F22S	possibly damaging	Het
Gm13101	T	C	4: 143,964,890	E421G	probably damaging	Het
Gria2	T	C	3: 80,707,838	Y445C	probably damaging	Het
Hsdl1	T	A	8: 119,566,256	I147F	possibly damaging	Het
Ifi44	T	C	3: 151,745,636	Y226C	probably damaging	Het
Il16	A	G	7: 83,722,308	C97R	probably damaging	Het
Impg1	A	T	9: 80,345,561	S369T	probably damaging	Het
Jmjd1c	A	G	10: 67,219,109	T390A	unknown	Het
Lgi1	A	G	19: 38,301,293	E269G	possibly damaging	Het
Lrp6	G	T	6: 134,450,897	Y1577*	probably null	Het
Lrrc74a	G	T	12: 86,761,773		probably benign	Het
Man1c1	A	T	4: 134,640,398		probably null	Het
Map1lc3b	A	C	8: 121,590,550	Q9P	possibly damaging	Het
Mboat1	G	A	13: 30,202,375	R124H	probably benign	Het
Mcu	A	G	10: 59,456,677	L60P	probably damaging	Het
Mrs2	G	T	13: 25,018,534	Q75K	probably benign	Het
Muc2	CGTG	CGTGTG	7: 141,699,185		probably null	Het
Neb	G	A	2: 52,206,878		probably benign	Het
Nlrp2	C	T	7: 5,328,329	G356D	probably benign	Het
Notch3	A	G	17: 32,156,148		probably benign	Het
Npr2	A	C	4: 43,641,617	S474R	probably damaging	Het
Nupl1	A	G	14: 60,244,616	F100L	probably benign	Het
Osbpl6	A	C	2: 76,546,042	D87A	possibly damaging	Het
Pabpc2	A	T	18: 39,775,307	M542L	probably benign	Het
Papln	A	G	12: 83,783,027		probably benign	Het
Parpbp	T	C	10: 88,092,896	I561V	possibly damaging	Het
Pelp1	T	C	11: 70,395,704	T533A	possibly damaging	Het
Poldip3	T	A	15: 83,135,296	M182L	probably benign	Het
Por	T	C	5: 135,731,178	S240P	possibly damaging	Het
Pramef20	A	T	4: 144,377,273		probably benign	Het
Prss22	A	T	17: 23,996,301	V167D	probably damaging	Het
Prss37	A	C	6: 40,516,349	L61R	probably damaging	Het
Psmd1	C	T	1: 86,118,616	T702M	probably benign	Het
Pxdn	G	T	12: 30,002,431	G869V	possibly damaging	Het
Rabgap1l	A	G	1: 160,453,745		probably benign	Het
Rapgef6	T	C	11: 54,619,941	V228A	probably damaging	Het
Rnf169	T	C	7: 99,926,003	R462G	possibly damaging	Het
Rnft2	A	G	5: 118,194,680		probably benign	Het
Sgo2b	T	C	8: 63,926,636	D1054G	probably benign	Het
Sh3bgr	T	C	16: 96,228,517		probably benign	Het
Slc12a4	A	G	8: 105,945,350	V910A	possibly damaging	Het
Slc6a12	A	T	6: 121,355,372	I222F	probably benign	Het
Spty2d1	G	A	7: 46,997,901	R427*	probably null	Het
Ssc5d	A	G	7: 4,944,663	T1339A	probably benign	Het
Sspo	A	C	6: 48,455,752	E854A	possibly damaging	Het
Stx7	A	G	10: 24,185,079		probably benign	Het
Styk1	A	T	6: 131,301,730		probably benign	Het
Tex33	T	A	15: 78,378,828	M209L	probably damaging	Het
Tmem163	T	G	1: 127,668,637		probably benign	Het
Tmppe	C	CT	9: 114,404,639		probably null	Het
Tmx2	A	G	2: 84,673,082	V229A	probably benign	Het
Top2b	T	C	14: 16,383,174	L54P	probably damaging	Het
Trim62	A	T	4: 128,902,550	Y280F	probably benign	Het
Tssk4	A	T	14: 55,651,559	K181*	probably null	Het
Tssk4	A	T	14: 55,651,560	K181M	probably damaging	Het
Ubn1	A	G	16: 5,064,614	D313G	probably damaging	Het
Ugt1a10	C	T	1: 88,215,123	P113L	probably damaging	Het
Ugt1a10	C	T	1: 88,218,249	P473L	probably damaging	Het

Other mutations in Pcdhb13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00654:Pcdhb13	APN	18	37443721	missense	possibly damaging	0.56
IGL00718:Pcdhb13	APN	18	37444821	missense	possibly damaging	0.91
IGL01143:Pcdhb13	APN	18	37442637	missense	probably benign	0.01
IGL01816:Pcdhb13	APN	18	37442975	missense	probably benign	0.00
IGL01916:Pcdhb13	APN	18	37443861	missense	possibly damaging	0.64
IGL02063:Pcdhb13	APN	18	37444229	missense	probably damaging	1.00
IGL02153:Pcdhb13	APN	18	37443685	missense	probably damaging	1.00
IGL02332:Pcdhb13	APN	18	37443582	missense	probably benign	0.32
IGL02407:Pcdhb13	APN	18	37443075	missense	probably damaging	1.00
IGL02423:Pcdhb13	APN	18	37444339	missense	possibly damaging	0.95
IGL02514:Pcdhb13	APN	18	37442991	missense	possibly damaging	0.80
IGL03025:Pcdhb13	APN	18	37442764	missense	probably damaging	1.00
IGL03227:Pcdhb13	APN	18	37443658	missense	probably damaging	0.98
IGL03233:Pcdhb13	APN	18	37444265	missense	probably damaging	0.96
IGL03239:Pcdhb13	APN	18	37442835	missense	probably damaging	0.97
R0046:Pcdhb13	UTSW	18	37444257	missense	probably benign
R0172:Pcdhb13	UTSW	18	37442937	missense	probably benign	0.00
R0594:Pcdhb13	UTSW	18	37443931	missense	probably damaging	1.00
R1235:Pcdhb13	UTSW	18	37444959	makesense	probably null
R1292:Pcdhb13	UTSW	18	37443832	missense	probably benign	0.43
R1481:Pcdhb13	UTSW	18	37442836	missense	probably damaging	1.00
R1991:Pcdhb13	UTSW	18	37443859	missense	possibly damaging	0.80
R2058:Pcdhb13	UTSW	18	37444567	missense	possibly damaging	0.95
R3508:Pcdhb13	UTSW	18	37443151	missense	probably damaging	0.99
R3713:Pcdhb13	UTSW	18	37443733	missense	probably damaging	1.00
R4125:Pcdhb13	UTSW	18	37443820	missense	probably damaging	1.00
R4741:Pcdhb13	UTSW	18	37443518	missense	probably benign	0.01
R4747:Pcdhb13	UTSW	18	37444815	missense	probably damaging	0.99
R4957:Pcdhb13	UTSW	18	37444784	missense	possibly damaging	0.95
R4973:Pcdhb13	UTSW	18	37443184	missense	probably benign	0.20
R5354:Pcdhb13	UTSW	18	37444791	missense	probably damaging	1.00
R5364:Pcdhb13	UTSW	18	37443508	missense	probably damaging	1.00
R5544:Pcdhb13	UTSW	18	37443520	missense	possibly damaging	0.92
R5897:Pcdhb13	UTSW	18	37443211	missense	probably benign	0.42
R6174:Pcdhb13	UTSW	18	37443421	missense	possibly damaging	0.84
R6702:Pcdhb13	UTSW	18	37444775	missense	probably benign	0.42
R6765:Pcdhb13	UTSW	18	37443610	missense	probably damaging	1.00
R6960:Pcdhb13	UTSW	18	37443456	missense	probably benign	0.45
R7144:Pcdhb13	UTSW	18	37443256	missense	probably damaging	1.00
R7225:Pcdhb13	UTSW	18	37444437	missense	possibly damaging	0.91
R7239:Pcdhb13	UTSW	18	37444644	missense	probably damaging	0.99
R7437:Pcdhb13	UTSW	18	37444675	missense	probably damaging	1.00
R7812:Pcdhb13	UTSW	18	37442592	missense	probably benign	0.00
R7964:Pcdhb13	UTSW	18	37444818	missense	possibly damaging	0.62
R8334:Pcdhb13	UTSW	18	37444800	missense	probably damaging	1.00
R8463:Pcdhb13	UTSW	18	37443234	missense	possibly damaging	0.94
R8476:Pcdhb13	UTSW	18	37444084	missense	probably damaging	1.00
R8501:Pcdhb13	UTSW	18	37444440	missense	probably damaging	1.00
R9248:Pcdhb13	UTSW	18	37444555	missense	probably damaging	1.00
R9569:Pcdhb13	UTSW	18	37443100	missense	probably damaging	1.00
X0023:Pcdhb13	UTSW	18	37443013	missense	probably damaging	1.00
X0028:Pcdhb13	UTSW	18	37444642	missense	possibly damaging	0.91
Z1176:Pcdhb13	UTSW	18	37443235	nonsense	probably null
Z1177:Pcdhb13	UTSW	18	37442580	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTCCGGTTCACCTAGATGCTGAAG -3'
(R):5'- AGCTGCAAATACTGTCTGTTCCCC -3'

Sequencing Primer
(F):5'- GCAAAAATACGGAACCATTTGCTG -3'
(R):5'- AATACTGTCTGTTCCCCTTGAAAAC -3'

Posted On

2013-04-16