Mutagenetix > Incidental Mutation

Incidental Mutation 'R7537:Pcdhb11'

583683

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb11

Ensembl Gene

ENSMUSG00000051486

Gene Name

protocadherin beta 11

Synonyms

Pcdhb5E, PcdhbK

MMRRC Submission

045609-MU

Accession Numbers

Genbank: NM_053136.3; Ensembl: ENSMUST00000053073

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7537 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37421418-37425836 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 37421619 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1 (M1L)

Ref Sequence

ENSEMBL: ENSMUSP00000056148 (fasta)

Gene Model

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

AlphaFold

Q91UZ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053073
AA Change: M1L

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: M1L

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

Meta Mutation Damage Score

0.8367

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 122,173,988	L2229P	possibly damaging	Het
Acaca	T	A	11: 84,260,634	M786K	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adap1	T	G	5: 139,293,173	E117D	possibly damaging	Het
Ap5z1	T	C	5: 142,477,298	S746P	probably benign	Het
Appl2	A	G	10: 83,617,428	I208T	possibly damaging	Het
Astn1	G	A	1: 158,667,638		probably null	Het
Astn1	A	G	1: 158,505,386	E346G	possibly damaging	Het
Atp23	T	A	10: 126,868,725	I180L	unknown	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cdh23	A	T	10: 60,384,945	I1340N	probably benign	Het
Cdh8	G	A	8: 99,098,885	Q493*	probably null	Het
Ces1g	T	C	8: 93,319,827	I357V	probably benign	Het
Ddx46	A	G	13: 55,650,478	D226G	probably damaging	Het
Eea1	C	T	10: 95,994,905	Q143*	probably null	Het
Erlin2	G	T	8: 27,031,772		probably null	Het
Fat3	T	A	9: 15,938,319	D3929V	probably damaging	Het
Flt3	T	C	5: 147,334,437	D898G	probably damaging	Het
Gm16519	A	G	17: 70,929,356	N100S	probably benign	Het
Gnl1	A	G	17: 35,988,536	H533R	probably damaging	Het
Gphn	A	G	12: 78,504,680	T301A	possibly damaging	Het
Herc2	C	T	7: 56,219,779	R4295*	probably null	Het
Insm2	T	C	12: 55,599,518	S16P	possibly damaging	Het
Jak2	C	T	19: 29,298,637	T778I	probably benign	Het
Lrriq3	A	G	3: 155,101,097	T128A	probably damaging	Het
Lst1	A	G	17: 35,186,944		probably null	Het
Magi1	G	T	6: 93,708,110	Y762*	probably null	Het
Man2b1	T	A	8: 85,090,965	C358*	probably null	Het
Mga	T	C	2: 119,935,551	V1432A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Morc2a	C	T	11: 3,683,566	Q587*	probably null	Het
Mrc2	T	C	11: 105,292,797	I4T	probably benign	Het
Muc16	C	A	9: 18,638,135	V5621F	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myo3b	A	G	2: 70,217,169	R340G	probably benign	Het
Nipal3	T	C	4: 135,490,937	Y34C	probably damaging	Het
Nktr	T	A	9: 121,749,279	D804E	unknown	Het
Nlrp4b	A	G	7: 10,714,889	M340V	probably benign	Het
Olfr1039	A	G	2: 86,131,264	V133A	probably benign	Het
Olfr385	T	A	11: 73,589,268	T157S	probably benign	Het
Olfr680-ps1	A	T	7: 105,092,771	M16K	probably benign	Het
Olfr701	G	A	7: 106,818,374	C97Y	probably damaging	Het
Pard3	T	A	8: 127,610,582	N1271K	probably damaging	Het
Pclo	T	C	5: 14,682,104	V3540A	unknown	Het
Pemt	A	G	11: 59,976,844	F154S	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rnpc3	G	T	3: 113,613,832	T376K	probably benign	Het
Rpe65	A	G	3: 159,604,609	Y143C	probably damaging	Het
Sbk2	T	C	7: 4,963,149	E12G	probably benign	Het
Slc2a5	T	C	4: 150,129,069	I106T	possibly damaging	Het
Snx13	A	G	12: 35,085,982	D92G	probably damaging	Het
Sorl1	C	T	9: 41,980,688	V1889I	probably benign	Het
Spag17	A	T	3: 99,939,247	N29I	possibly damaging	Het
Speg	T	C	1: 75,401,464	V878A	probably damaging	Het
Timp4	A	G	6: 115,250,460	S53P	probably damaging	Het
Tssk1	G	T	16: 17,895,084	E244D	probably benign	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Vmn2r85	A	T	10: 130,422,866	V440E	probably benign	Het
Wdr59	T	C	8: 111,490,369	D270G		Het
Zbbx	G	A	3: 75,085,519	P223S	probably damaging	Het
Zfp936	T	A	7: 43,189,815	C235*	probably null	Het
Zranb3	A	T	1: 128,032,847		probably null	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
R7504:Pcdhb11	UTSW	18	37421799	missense	probably benign
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'- AGAATGAGCTCTGCAGACACC -3'
(R):5'- CTAGTGGCCAGTTCTCCAAC -3'

Sequencing Primer
(F):5'- AGGAAGCCATCTCATTAAGTCG -3'
(R):5'- GCCAGTTCTCCAACCCTGAG -3'

Posted On

2019-10-17