Mutagenetix > Incidental Mutations

Incidental Mutation 'R7244:Pcdha11'

563436

Institutional Source

Beutler Lab

Gene Symbol

Pcdha11

Ensembl Gene

ENSMUSG00000102206

Gene Name

protocadherin alpha 11

Synonyms

A830022B16Rik, Crnr7, Cnr7

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.188) question?

Stock #

R7244 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37010712-37187657 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 37011368 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 171 (R171*)

Ref Sequence

ENSEMBL: ENSMUSP00000111321 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070797] [ENSMUST00000115657] [ENSMUST00000115658] [ENSMUST00000115659] [ENSMUST00000115661] [ENSMUST00000115662] [ENSMUST00000192168] [ENSMUST00000192295] [ENSMUST00000192447] [ENSMUST00000192503] [ENSMUST00000192512] [ENSMUST00000192631] [ENSMUST00000193389] [ENSMUST00000193777] [ENSMUST00000193839] [ENSMUST00000194038] [ENSMUST00000194544] [ENSMUST00000194751] [ENSMUST00000195590]

Predicted Effect

probably benign
Transcript: ENSMUST00000070797

SMART Domains

Protein: ENSMUSP00000068828
Gene: ENSMUSG00000103442

Domain	Start	End	E-Value	Type
CA	22	132	3.09e-2	SMART
CA	156	241	6.14e-20	SMART
CA	265	349	3.92e-27	SMART
CA	373	454	4.94e-24	SMART
CA	478	564	1e-24	SMART
CA	592	672	4.55e-14	SMART
transmembrane domain	694	716	N/A	INTRINSIC
Pfam:Cadherin_tail	797	931	5.3e-58	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000115657
AA Change: R171*

SMART Domains

Protein: ENSMUSP00000111321
Gene: ENSMUSG00000102206
AA Change: R171*

Domain	Start	End	E-Value	Type
CA	21	131	2.95e-2	SMART
CA	155	240	7.44e-19	SMART
CA	264	347	5.63e-28	SMART
CA	371	452	3.14e-26	SMART
CA	476	562	1.42e-24	SMART
CA	593	675	1.03e-12	SMART
transmembrane domain	697	719	N/A	INTRINSIC
low complexity region	783	794	N/A	INTRINSIC
low complexity region	918	942	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115658

SMART Domains

Protein: ENSMUSP00000111322
Gene: ENSMUSG00000007440

Domain	Start	End	E-Value	Type
low complexity region	15	21	N/A	INTRINSIC
CA	46	132	6.34e-2	SMART
CA	156	241	4.65e-20	SMART
CA	265	349	1.25e-25	SMART
CA	373	454	9.22e-24	SMART
CA	478	564	4.3e-24	SMART
CA	595	678	5.07e-12	SMART
low complexity region	706	721	N/A	INTRINSIC
Pfam:Cadherin_tail	795	929	5.3e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115659

SMART Domains

Protein: ENSMUSP00000111323
Gene: ENSMUSG00000103770

Domain	Start	End	E-Value	Type
low complexity region	44	51	N/A	INTRINSIC
CA	75	161	2.46e-2	SMART
CA	185	270	8.1e-20	SMART
CA	294	378	1.69e-22	SMART
CA	402	483	1.52e-24	SMART
CA	507	593	5.68e-24	SMART
CA	624	705	6.69e-12	SMART
transmembrane domain	727	749	N/A	INTRINSIC
Pfam:Cadherin_tail	828	962	5.6e-58	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: ENSMUST00000115662

SMART Domains

Protein: ENSMUSP00000111326
Gene: ENSMUSG00000104148

Domain	Start	End	E-Value	Type
CA	45	131	6.34e-2	SMART
CA	155	240	2.98e-18	SMART
CA	264	348	2.17e-29	SMART
CA	372	453	2.84e-24	SMART
CA	477	563	5.02e-25	SMART
CA	594	675	8.16e-16	SMART
transmembrane domain	695	717	N/A	INTRINSIC
low complexity region	916	940	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192168

SMART Domains

Protein: ENSMUSP00000142293
Gene: ENSMUSG00000103092

Domain	Start	End	E-Value	Type
CA	21	131	2.2e-2	SMART
CA	155	240	2.05e-21	SMART
CA	264	348	8.81e-21	SMART
CA	372	453	2.01e-24	SMART
CA	477	563	1.42e-24	SMART
CA	591	673	1.63e-15	SMART
transmembrane domain	693	715	N/A	INTRINSIC
low complexity region	902	926	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192295

SMART Domains

Protein: ENSMUSP00000142103
Gene: ENSMUSG00000104252

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	568	5.38e-1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000192447
AA Change: R171*

SMART Domains

Protein: ENSMUSP00000142270
Gene: ENSMUSG00000102206
AA Change: R171*

Domain	Start	End	E-Value	Type
CA	21	131	1.5e-4	SMART
CA	155	240	3.6e-21	SMART
CA	264	347	2.8e-30	SMART
CA	371	452	1.5e-28	SMART
CA	476	562	6.8e-27	SMART
CA	593	675	4.9e-15	SMART
transmembrane domain	697	719	N/A	INTRINSIC
low complexity region	783	794	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192503

SMART Domains

Protein: ENSMUSP00000141989
Gene: ENSMUSG00000102312

Domain	Start	End	E-Value	Type
low complexity region	11	17	N/A	INTRINSIC
CA	42	128	3.78e-2	SMART
CA	152	237	8.94e-22	SMART
CA	261	345	3.74e-24	SMART
CA	369	450	1.09e-25	SMART
CA	474	560	1.42e-24	SMART
CA	588	670	2.96e-13	SMART
transmembrane domain	692	714	N/A	INTRINSIC
low complexity region	910	934	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192512

SMART Domains

Protein: ENSMUSP00000141408
Gene: ENSMUSG00000104252

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
low complexity region	915	939	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192631

SMART Domains

Protein: ENSMUSP00000142156
Gene: ENSMUSG00000104318

Domain	Start	End	E-Value	Type
CA	21	131	2.58e-2	SMART
CA	155	240	4.27e-19	SMART
CA	264	348	1.42e-24	SMART
CA	372	453	9.36e-25	SMART
CA	477	563	1.42e-24	SMART
CA	594	671	4.03e-6	SMART
transmembrane domain	696	718	N/A	INTRINSIC
low complexity region	905	929	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193389

SMART Domains

Protein: ENSMUSP00000141459
Gene: ENSMUSG00000103707

Domain	Start	End	E-Value	Type
CA	21	131	5.67e-2	SMART
CA	155	240	4.72e-21	SMART
CA	264	348	1.9e-25	SMART
CA	372	453	3.31e-25	SMART
CA	477	563	1.42e-24	SMART
CA	594	676	5.91e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193777

SMART Domains

Protein: ENSMUSP00000141587
Gene: ENSMUSG00000103707

Domain	Start	End	E-Value	Type
CA	21	131	5.67e-2	SMART
CA	155	240	4.72e-21	SMART
CA	264	348	1.9e-25	SMART
CA	372	453	3.31e-25	SMART
CA	477	563	1.42e-24	SMART
CA	594	676	5.91e-13	SMART
low complexity region	914	938	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193839

SMART Domains

Protein: ENSMUSP00000142308
Gene: ENSMUSG00000103442

Domain	Start	End	E-Value	Type
CA	22	132	3.09e-2	SMART
CA	156	241	6.14e-20	SMART
CA	265	349	3.92e-27	SMART
CA	373	454	4.94e-24	SMART
CA	478	564	1e-24	SMART
CA	592	672	4.55e-14	SMART
transmembrane domain	694	716	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000193856

Predicted Effect

probably benign
Transcript: ENSMUST00000193984

Predicted Effect

probably benign
Transcript: ENSMUST00000194038

SMART Domains

Protein: ENSMUSP00000142159
Gene: ENSMUSG00000103800

Domain	Start	End	E-Value	Type
CA	20	131	6.34e-2	SMART
CA	155	240	4.27e-19	SMART
CA	264	348	2.04e-25	SMART
CA	372	453	2.84e-24	SMART
CA	477	563	9.88e-24	SMART
CA	594	676	8.62e-15	SMART
transmembrane domain	699	721	N/A	INTRINSIC
low complexity region	914	938	N/A	INTRINSIC

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

Predicted Effect

probably benign
Transcript: ENSMUST00000194751

SMART Domains

Protein: ENSMUSP00000142285
Gene: ENSMUSG00000103707

Domain	Start	End	E-Value	Type
low complexity region	15	21	N/A	INTRINSIC
Pfam:Cadherin_2	29	112	4.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000195590

SMART Domains

Protein: ENSMUSP00000141355
Gene: ENSMUSG00000104148

Domain	Start	End	E-Value	Type
CA	45	131	6.34e-2	SMART
CA	155	240	2.98e-18	SMART
CA	264	348	2.17e-29	SMART
CA	372	453	2.84e-24	SMART
CA	477	563	5.02e-25	SMART
CA	594	675	8.16e-16	SMART
transmembrane domain	695	717	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (45/47)

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 alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. 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 connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	A	G	1: 25,131,269	F983L	probably damaging	Het
Cc2d1b	T	A	4: 108,629,602	M632K	probably benign	Het
Cdyl2	G	A	8: 116,575,260	R461*	probably null	Het
Cfap57	G	A	4: 118,554,800	Q1216*	probably null	Het
Chd1l	A	T	3: 97,597,750	V167E	probably damaging	Het
Col6a1	C	A	10: 76,717,408	G391*	probably null	Het
Ctsc	C	A	7: 88,302,222	Q226K	probably benign	Het
Cyp2c54	A	G	19: 40,047,509	V319A	probably damaging	Het
Dnah7b	T	C	1: 46,277,143	S3139P	probably damaging	Het
Edrf1	T	C	7: 133,654,350	S643P	probably benign	Het
Fam186a	A	T	15: 99,946,392	V657D	unknown	Het
Fkbp11	A	G	15: 98,728,192		probably benign	Het
Fsip2	G	A	2: 82,993,263	A6447T	possibly damaging	Het
Gm13101	A	T	4: 143,965,885	M182K	probably benign	Het
Gm7030	C	A	17: 36,127,604		probably null	Het
Hydin	A	G	8: 110,549,675	D3017G	probably damaging	Het
Ifi205	G	A	1: 174,017,644	Q191*	probably null	Het
Mbd4	C	T	6: 115,844,603	D484N	probably benign	Het
Med24	C	T	11: 98,714,397		probably null	Het
Mis18bp1	T	C	12: 65,161,630	N103S	probably damaging	Het
Mmd2	T	C	5: 142,564,832	H217R	probably damaging	Het
Mn1	C	T	5: 111,418,833	T223M	possibly damaging	Het
Ms4a4a	A	G	19: 11,381,430	Y84C	probably damaging	Het
Mup5	A	T	4: 61,831,581		probably null	Het
Mybl2	C	T	2: 163,082,685	P658S	probably benign	Het
Mycbp2	C	A	14: 103,208,909	V1828L	probably damaging	Het
Myh15	T	C	16: 49,196,786	Y1887H	probably damaging	Het
Nadk2	A	G	15: 9,083,191		probably null	Het
Nsd3	A	G	8: 25,666,039	N541D	probably damaging	Het
Olfr556	G	T	7: 102,669,839		probably benign	Het
Olfr675	A	G	7: 105,024,941	V13A	probably benign	Het
Oxa1l	A	T	14: 54,360,855	M1L	probably benign	Het
Pkd1l1	A	T	11: 8,871,771	V1641E		Het
Prom1	T	A	5: 44,020,900	I497L	probably benign	Het
Rasgef1b	T	C	5: 99,558,894	K41E	possibly damaging	Het
Rasgrf1	T	C	9: 89,994,757	F725S	probably damaging	Het
Ryr2	T	A	13: 11,597,146	S3962C	probably damaging	Het
Sema5b	A	T	16: 35,660,545	T829S	probably benign	Het
Tdp2	A	G	13: 24,841,301	D351G	probably benign	Het
Tet3	A	T	6: 83,370,621	D1130E	probably damaging	Het
Tg	T	C	15: 66,740,714	C1993R	probably damaging	Het
Tll1	T	C	8: 64,025,188	I844V	probably benign	Het
Ttll13	A	C	7: 80,254,163	K280Q	probably damaging	Het
Vmn2r109	A	G	17: 20,540,683	V804A	possibly damaging	Het
Vps13c	T	C	9: 67,889,804	V491A	probably benign	Het
Xpo5	G	T	17: 46,214,625	G233C	probably damaging	Het

Other mutations in Pcdha11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01522:Pcdha11	APN	18	37185008	missense	probably damaging	1.00
IGL01843:Pcdha11	APN	18	37012833	missense	probably benign	0.28
R1165:Pcdha11	UTSW	18	37007704	intron	probably benign
R2422:Pcdha11	UTSW	18	37007272	missense	probably damaging	0.99
R2423:Pcdha11	UTSW	18	37007424	missense	possibly damaging	0.89
R2508:Pcdha11	UTSW	18	37012854	missense	possibly damaging	0.86
R3114:Pcdha11	UTSW	18	37011807	missense	probably damaging	1.00
R4173:Pcdha11	UTSW	18	37012623	missense	probably damaging	0.99
R4255:Pcdha11	UTSW	18	37012790	missense	probably benign	0.23
R4369:Pcdha11	UTSW	18	37006743	missense	possibly damaging	0.70
R4454:Pcdha11	UTSW	18	37007373	missense	probably benign	0.13
R4489:Pcdha11	UTSW	18	37006916	missense	possibly damaging	0.78
R4626:Pcdha11	UTSW	18	37006998	missense	probably damaging	1.00
R4751:Pcdha11	UTSW	18	37006944	missense	probably damaging	1.00
R4801:Pcdha11	UTSW	18	37005465	missense	probably damaging	1.00
R4802:Pcdha11	UTSW	18	37005465	missense	probably damaging	1.00
R4857:Pcdha11	UTSW	18	37011452	missense	probably benign	0.02
R4995:Pcdha11	UTSW	18	37011027	missense	probably benign	0.24
R5042:Pcdha11	UTSW	18	37011596	missense	probably damaging	1.00
R5480:Pcdha11	UTSW	18	37005882	missense	probably benign	0.04
R5495:Pcdha11	UTSW	18	37011026	missense	probably benign
R5523:Pcdha11	UTSW	18	37012386	missense	probably damaging	1.00
R5584:Pcdha11	UTSW	18	37006765	missense	probably damaging	1.00
R5682:Pcdha11	UTSW	18	37011449	missense	probably damaging	1.00
R5834:Pcdha11	UTSW	18	37012623	missense	probably damaging	0.99
R5842:Pcdha11	UTSW	18	37011284	missense	possibly damaging	0.85
R5859:Pcdha11	UTSW	18	37007283	missense	probably damaging	1.00
R6110:Pcdha11	UTSW	18	37011456	missense	probably damaging	1.00
R6135:Pcdha11	UTSW	18	37005817	missense	probably damaging	1.00
R6248:Pcdha11	UTSW	18	37005897	missense	probably benign	0.26
R6416:Pcdha11	UTSW	18	37012169	unclassified	probably null
R6450:Pcdha11	UTSW	18	37013162	missense	probably damaging	1.00
R6594:Pcdha11	UTSW	18	37011182	missense	probably benign	0.04
R6631:Pcdha11	UTSW	18	37005791	missense	probably damaging	1.00
R6883:Pcdha11	UTSW	18	37011189	missense	probably damaging	1.00
R7088:Pcdha11	UTSW	18	37005417	missense	probably benign	0.00
R7129:Pcdha11	UTSW	18	37007238	missense	probably benign	0.45
R7153:Pcdha11	UTSW	18	37011225	missense	probably damaging	1.00
R7295:Pcdha11	UTSW	18	37006926	missense	probably damaging	1.00
R7319:Pcdha11	UTSW	18	37013192	missense	probably benign	0.10
R7352:Pcdha11	UTSW	18	37006845	missense	probably damaging	1.00
R7516:Pcdha11	UTSW	18	37011618	missense	probably damaging	1.00
R7519:Pcdha11	UTSW	18	37006266	nonsense	probably null
R7660:Pcdha11	UTSW	18	37005851	missense	probably benign	0.17
R7677:Pcdha11	UTSW	18	37011552	missense	probably damaging	1.00
R7707:Pcdha11	UTSW	18	37011792	missense	probably benign	0.00
R7775:Pcdha11	UTSW	18	37012680	missense	possibly damaging	0.64
R7778:Pcdha11	UTSW	18	37012680	missense	possibly damaging	0.64
R7780:Pcdha11	UTSW	18	37012796	missense	probably damaging	0.97
RF017:Pcdha11	UTSW	18	37005524	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GTTTGTGAATTCTCGGATCGACC -3'
(R):5'- TGAACTGTACCCGTGAGCTC -3'

Sequencing Primer
(F):5'- AGTGCAGCATCCACCTGG -3'
(R):5'- ACCCGTGAGCTCCGGTTTTC -3'

Posted On

2019-06-26