Mutagenetix > Incidental Mutation

Incidental Mutation 'R7504:Pcdhb11'

581693

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb11

Ensembl Gene

ENSMUSG00000051486

Gene Name

protocadherin beta 11

Synonyms

Pcdhb5E, PcdhbK

MMRRC Submission

Accession Numbers

Genbank: NM_053136.3; Ensembl: ENSMUST00000053073

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7504 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37421418-37425836 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37421799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 61 (T61S)

Ref Sequence

ENSEMBL: ENSMUSP00000056148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053073] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q91UZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000053073
AA Change: T61S

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

SMART Domains

Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: T61S

Domain	Start	End	E-Value	Type
CA	54	131	3.51e-1	SMART
CA	155	240	4.11e-21	SMART
CA	264	344	6.37e-27	SMART
CA	367	448	4.79e-22	SMART
CA	472	558	7.31e-27	SMART
CA	588	669	2.46e-10	SMART
Pfam:Cadherin_C_2	686	769	3.4e-26	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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	C	G	17: 14,943,653	A14G	probably damaging	Het
6430573F11Rik	A	C	8: 36,512,155	N304T	probably benign	Het
Btn1a1	A	T	13: 23,461,716	M161K	probably benign	Het
Camkk2	G	A	5: 122,746,308	T350I	probably damaging	Het
Cdc42bpg	C	A	19: 6,306,784	D23E	possibly damaging	Het
Cdkn1a	T	C	17: 29,098,514	L36P	probably damaging	Het
Dek	A	G	13: 47,088,035	I351T	probably damaging	Het
Dst	T	C	1: 34,201,017	Y1816H	probably damaging	Het
Efl1	T	A	7: 82,683,049	N300K	probably damaging	Het
Ephx2	A	G	14: 66,101,617	Y294H	probably damaging	Het
Fancd2	T	A	6: 113,545,038	I198N	probably damaging	Het
Gm6502	G	T	5: 94,317,047	V431L	probably benign	Het
Grid1	G	T	14: 35,562,513	A738S	probably damaging	Het
Gsx2	G	A	5: 75,076,399		probably null	Het
Hc	G	A	2: 35,061,319	T22I	not run	Het
Hps1	T	C	19: 42,766,720	D261G	probably benign	Het
Ift80	T	C	3: 68,918,005	Y539C	probably damaging	Het
Insc	G	T	7: 114,791,298		probably null	Het
Isg15	T	C	4: 156,200,045	M9V	probably damaging	Het
Kalrn	A	G	16: 34,256,233	L695P	unknown	Het
Nars	A	C	18: 64,512,022	F52V	probably benign	Het
Nmt1	T	G	11: 103,056,459	F225V	probably damaging	Het
Olfr1352	A	G	10: 78,984,660	Y290C	possibly damaging	Het
Olfr143	A	T	9: 38,254,243	K272N	possibly damaging	Het
Olfr1495	T	A	19: 13,768,732	I130N	probably damaging	Het
Pbx3	T	C	2: 34,175,924	T385A	probably damaging	Het
Rab11fip1	T	C	8: 27,152,953	E606G	possibly damaging	Het
Rnf216	A	G	5: 143,075,759	Y589H	probably benign	Het
Scara3	A	G	14: 65,931,331	I279T	possibly damaging	Het
Sdk2	T	A	11: 113,867,967	Y477F	possibly damaging	Het
Secisbp2l	T	C	2: 125,758,171	K415E	probably benign	Het
Stag1	C	T	9: 100,888,328	T639I	probably benign	Het
Sv2b	A	T	7: 75,136,383	F430I	probably benign	Het
Tenm2	C	T	11: 36,139,743	C743Y	probably damaging	Het
Tet2	C	A	3: 133,487,339	V445L	probably benign	Het
Tmem132c	T	C	5: 127,554,632	S652P	probably damaging	Het
Togaram1	A	G	12: 64,992,617	D1155G	possibly damaging	Het
Traip	T	C	9: 107,961,544	I169T	probably benign	Het
Usp45	T	G	4: 21,816,892	M374R	possibly damaging	Het
Vmn2r81	A	T	10: 79,268,332	H263L	probably benign	Het
Wdr95	T	C	5: 149,581,846	V364A	probably damaging	Het
Zfp128	G	A	7: 12,890,478	D258N	probably damaging	Het
Zfp335	G	A	2: 164,909,418	T76I	probably benign	Het
Zfp688	C	A	7: 127,419,311	C214F	probably damaging	Het
Zfp760	T	C	17: 21,722,674	S277P	probably damaging	Het

Other mutations in Pcdhb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Pcdhb11	APN	18	37421973	missense	probably benign	0.00
IGL00906:Pcdhb11	APN	18	37422121	missense	possibly damaging	0.67
IGL01610:Pcdhb11	APN	18	37423359	missense	probably benign	0.00
IGL01973:Pcdhb11	APN	18	37423512	missense	probably damaging	1.00
IGL01977:Pcdhb11	APN	18	37422291	missense	possibly damaging	0.49
IGL02164:Pcdhb11	APN	18	37423359	missense	probably benign	0.00
IGL02282:Pcdhb11	APN	18	37423828	missense	probably damaging	1.00
IGL02674:Pcdhb11	APN	18	37423614	missense	probably damaging	1.00
IGL02965:Pcdhb11	APN	18	37423968	missense	probably benign
IGL03197:Pcdhb11	APN	18	37422424	nonsense	probably null
1mM(1):Pcdhb11	UTSW	18	37423957	missense	probably benign	0.00
R0001:Pcdhb11	UTSW	18	37423989	missense	probably benign	0.06
R0383:Pcdhb11	UTSW	18	37423393	missense	probably damaging	1.00
R0421:Pcdhb11	UTSW	18	37422480	missense	probably benign	0.04
R0422:Pcdhb11	UTSW	18	37421870	missense	probably damaging	1.00
R0427:Pcdhb11	UTSW	18	37422765	missense	probably damaging	1.00
R0542:Pcdhb11	UTSW	18	37423834	missense	probably damaging	1.00
R0620:Pcdhb11	UTSW	18	37421811	nonsense	probably null
R1014:Pcdhb11	UTSW	18	37423369	missense	probably damaging	1.00
R1277:Pcdhb11	UTSW	18	37421716	missense	possibly damaging	0.79
R2034:Pcdhb11	UTSW	18	37422493	missense	probably benign	0.00
R2142:Pcdhb11	UTSW	18	37422123	missense	probably benign	0.28
R2496:Pcdhb11	UTSW	18	37422322	missense	probably benign	0.30
R3077:Pcdhb11	UTSW	18	37422244	missense	probably benign	0.08
R4560:Pcdhb11	UTSW	18	37423734	missense	possibly damaging	0.61
R4590:Pcdhb11	UTSW	18	37422496	missense	probably damaging	0.98
R4642:Pcdhb11	UTSW	18	37421968	missense	probably benign	0.01
R4729:Pcdhb11	UTSW	18	37422366	nonsense	probably null
R5012:Pcdhb11	UTSW	18	37422976	missense	possibly damaging	0.48
R5364:Pcdhb11	UTSW	18	37422179	missense	probably benign	0.06
R5910:Pcdhb11	UTSW	18	37423743	missense	probably benign	0.43
R6023:Pcdhb11	UTSW	18	37422925	missense	possibly damaging	0.94
R6106:Pcdhb11	UTSW	18	37423003	missense	probably damaging	1.00
R6254:Pcdhb11	UTSW	18	37421718	missense	probably damaging	0.99
R6276:Pcdhb11	UTSW	18	37421760	missense	probably benign	0.36
R6360:Pcdhb11	UTSW	18	37422159	missense	probably benign
R6699:Pcdhb11	UTSW	18	37422937	missense	probably damaging	1.00
R6732:Pcdhb11	UTSW	18	37422144	missense	probably benign
R6760:Pcdhb11	UTSW	18	37421584	intron	probably benign
R6916:Pcdhb11	UTSW	18	37422381	missense	possibly damaging	0.52
R7130:Pcdhb11	UTSW	18	37423506	missense	probably benign	0.04
R7267:Pcdhb11	UTSW	18	37421953	missense	possibly damaging	0.61
R7426:Pcdhb11	UTSW	18	37423260	missense	probably damaging	0.99
R7444:Pcdhb11	UTSW	18	37422619	missense	probably damaging	0.98
R7492:Pcdhb11	UTSW	18	37423444	missense	probably damaging	1.00
R7537:Pcdhb11	UTSW	18	37421619	start codon destroyed	possibly damaging	0.88
R7728:Pcdhb11	UTSW	18	37423477	missense	probably damaging	1.00
R7817:Pcdhb11	UTSW	18	37423909	missense	probably damaging	1.00
R8071:Pcdhb11	UTSW	18	37422369	missense	probably benign	0.02
R8229:Pcdhb11	UTSW	18	37422618	missense	probably benign	0.00
R8254:Pcdhb11	UTSW	18	37422189	missense	probably benign	0.45
R8356:Pcdhb11	UTSW	18	37422199	missense	probably damaging	1.00
R8739:Pcdhb11	UTSW	18	37422496	missense	probably damaging	1.00
R8957:Pcdhb11	UTSW	18	37421639	missense	probably benign	0.43
R8957:Pcdhb11	UTSW	18	37422819	missense	probably benign	0.09
R8964:Pcdhb11	UTSW	18	37423607	missense	probably benign	0.00
R8966:Pcdhb11	UTSW	18	37422984	missense	possibly damaging	0.67
R9188:Pcdhb11	UTSW	18	37423135	missense	probably damaging	1.00
R9253:Pcdhb11	UTSW	18	37421476	intron	probably benign
R9632:Pcdhb11	UTSW	18	37422966	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCCTCTGGACTGAATCTGC -3'
(R):5'- TATATCAGTGAGCTGCAGTTCAG -3'

Sequencing Primer
(F):5'- CTCTGGACTGAATCTGCACAATGG -3'
(R):5'- CTGCAGTTCAGTTTGGAAGAAC -3'

Posted On

2019-10-17