Mutagenetix > Incidental Mutations

Incidental Mutation 'R5354:Pcdhb13'

424010

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb13

Ensembl Gene

ENSMUSG00000047307

Gene Name

protocadherin beta 13

Synonyms

PcdhbM, Pcdbh6

MMRRC Submission

042933-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R5354 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37442500-37446209 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37444791 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 741 (G741C)

Ref Sequence

ENSEMBL: ENSMUSP00000061087 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000056915
AA Change: G741C

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

SMART Domains

Protein: ENSMUSP00000061087
Gene: ENSMUSG00000047307
AA Change: G741C

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

0.8668

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

100% (80/80)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630010A05Rik	A	G	16: 14,618,671	K196R	probably benign	Het
Ablim1	T	C	19: 57,130,923	E243G	probably benign	Het
Acat1	T	A	9: 53,589,183	E271V	possibly damaging	Het
Aco1	T	C	4: 40,180,290		probably null	Het
Adam22	C	A	5: 8,090,182	G202W	probably damaging	Het
Agbl3	T	A	6: 34,814,752	H596Q	probably benign	Het
Anxa7	A	G	14: 20,464,909	L177P	possibly damaging	Het
Atp11a	A	T	8: 12,806,753	N48I	probably damaging	Het
Bcas1	T	A	2: 170,349,396	N492I	possibly damaging	Het
Bclaf1	A	G	10: 20,333,532	Y498C	probably damaging	Het
Bod1l	A	C	5: 41,831,537	V409G	probably damaging	Het
Ccdc170	G	A	10: 4,534,188	C338Y	probably benign	Het
Cdc45	C	T	16: 18,795,897	R205H	probably damaging	Het
Ckap2	A	C	8: 22,177,565	N93K	probably damaging	Het
Clca3a1	A	T	3: 144,737,005	S759R	possibly damaging	Het
Coro1c	A	T	5: 113,846,165	I347N	possibly damaging	Het
Cpox	A	G	16: 58,670,842	T139A	probably damaging	Het
Cyp4a12b	C	A	4: 115,433,464		probably null	Het
Dctn1	T	G	6: 83,183,126	V116G	possibly damaging	Het
Dhx38	A	G	8: 109,555,746	V683A	probably damaging	Het
Dnah12	G	A	14: 26,774,342		probably null	Het
Dnajb7	T	C	15: 81,408,007	E43G	probably damaging	Het
Dsc1	A	T	18: 20,087,575	V714E	probably damaging	Het
Dupd1	G	A	14: 21,677,023	R186W	probably benign	Het
Egfem1	T	C	3: 29,082,212		probably null	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
Fmo1	T	C	1: 162,830,145	T476A	probably benign	Het
Gm10237	T	C	16: 35,920,729		noncoding transcript	Het
Gm14496	A	G	2: 182,000,809	S758G	probably damaging	Het
Gpat2	T	A	2: 127,428,723	L97Q	probably damaging	Het
Gpr162	T	C	6: 124,859,637	D357G	probably benign	Het
Hax1	A	T	3: 89,997,955	D34E	probably damaging	Het
Hmgcr	C	T	13: 96,654,896	V97M	probably benign	Het
Hsd3b2	T	C	3: 98,712,315	T105A	probably benign	Het
Ints1	A	G	5: 139,766,428		probably null	Het
Islr	T	C	9: 58,157,612	E204G	probably damaging	Het
Lrrc36	A	G	8: 105,425,364	N60D	probably damaging	Het
Maf1	T	C	15: 76,353,130		probably benign	Het
Mrgprb4	T	A	7: 48,198,329	R284W	probably benign	Het
Myh4	A	T	11: 67,255,725	N1508I	possibly damaging	Het
Nufip2	A	G	11: 77,686,277	H17R	unknown	Het
Oasl1	A	T	5: 114,936,996	I372L	probably damaging	Het
Olfr290	T	A	7: 84,916,149	Y123*	probably null	Het
Olfr414	T	C	1: 174,430,686	L86P	probably damaging	Het
Pald1	A	T	10: 61,348,661	Y226N	probably damaging	Het
Pcdhga10	A	G	18: 37,748,206	D340G	probably damaging	Het
Pclo	C	A	5: 14,678,808		probably benign	Het
Pcsk4	G	T	10: 80,323,689	N416K	probably damaging	Het
Pde10a	C	A	17: 8,961,980	R398S	probably damaging	Het
Plin1	T	A	7: 79,725,721	T227S	possibly damaging	Het
Pnpt1	A	G	11: 29,154,166	D542G	probably damaging	Het
Ppp4r3b	T	A	11: 29,211,646	D673E	probably benign	Het
Prr18	C	A	17: 8,341,060	P16Q	probably damaging	Het
Psmc3	T	A	2: 91,059,353	Y440N	probably damaging	Het
Rassf5	T	C	1: 131,180,648	I232V	probably benign	Het
Rims1	T	A	1: 22,538,511	D218V	probably damaging	Het
Skint10	T	C	4: 112,711,593	N309S	possibly damaging	Het
Slc6a1	T	C	6: 114,302,623	M121T	possibly damaging	Het
Slit3	A	G	11: 35,675,913	D1004G	probably damaging	Het
Snap91	C	T	9: 86,835,124	V215I	possibly damaging	Het
Son	T	C	16: 91,655,739	L458S	probably damaging	Het
St18	C	T	1: 6,844,171	A782V	probably damaging	Het
Synpo	A	G	18: 60,602,231		probably null	Het
Thbs3	A	G	3: 89,221,377	D458G	probably damaging	Het
Tpr	C	T	1: 150,445,924	R3C	probably damaging	Het
Trp63	A	G	16: 25,684,355		probably null	Het
Uhrf1bp1	G	A	17: 27,887,515	S1005N	probably benign	Het
Vmn1r27	C	A	6: 58,215,596	R141L	probably benign	Het
Wnk1	T	C	6: 119,968,523	I699V	probably benign	Het
Xkr6	A	G	14: 63,818,904	D88G	possibly damaging	Het
Zan	A	G	5: 137,380,788		probably benign	Het
Zbtb7b	T	C	3: 89,379,606		probably benign	Het
Zfp618	A	T	4: 63,080,028	D33V	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
R0201:Pcdhb13	UTSW	18	37442581	missense	probably benign
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
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
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'- ATGCGCTCACGTTATACCTGG -3'
(R):5'- CATCGATAGCGTGCAGATATAGG -3'

Sequencing Primer
(F):5'- GCGCTCACGTTATACCTGGTTATTG -3'
(R):5'- ATAGCGTGCAGATATAGGTTAAAAG -3'

Posted On

2016-08-04