Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00906:Pcdhb11'

29400

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb11

Ensembl Gene

ENSMUSG00000051486

Gene Name

protocadherin beta 11

Synonyms

Pcdhb5E, PcdhbK

Accession Numbers

Genbank: NM_053136.3; Ensembl: ENSMUST00000053073

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

IGL00906

Quality Score

Status

Chromosome

Chromosomal Location

37421418-37425836 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37422121 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 168 (Q168L)

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: Q168L

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: Q168L

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	A	G	5: 125,503,274	E221G	probably benign	Het
Alb	A	G	5: 90,472,073	N453S	probably benign	Het
Bckdha	C	T	7: 25,633,342	V183M	probably benign	Het
Brpf3	A	G	17: 28,836,700		probably benign	Het
Ccdc163	T	C	4: 116,710,290		probably null	Het
Ccdc178	A	T	18: 22,135,168	C87*	probably null	Het
Clca4a	A	G	3: 144,954,939	V708A	probably damaging	Het
Cyfip2	A	G	11: 46,200,685	V1136A	possibly damaging	Het
Dnah11	A	C	12: 117,911,202	L3976R	probably damaging	Het
Erich1	A	G	8: 14,033,770		probably benign	Het
Fam228a	A	T	12: 4,732,773	Y107N	possibly damaging	Het
Gm4788	A	T	1: 139,731,574	V739E	probably damaging	Het
Iars2	A	T	1: 185,296,403		probably benign	Het
Ifi204	A	G	1: 173,759,631		probably benign	Het
Ifih1	A	T	2: 62,645,824	I36N	probably benign	Het
Jak1	C	T	4: 101,154,629	G1092D	probably damaging	Het
Kir3dl2	G	A	X: 136,456,348	P122S	probably damaging	Het
Nacc2	T	C	2: 26,061,666	T386A	probably damaging	Het
Nrf1	C	T	6: 30,098,478	T135M	probably damaging	Het
Olfr641	G	A	7: 104,039,844	G16D	probably damaging	Het
Olfr727	A	G	14: 50,126,757	Y60C	probably damaging	Het
Pcca	A	C	14: 122,690,133	D436A	probably benign	Het
Pdgfra	A	G	5: 75,180,173	I598V	probably benign	Het
Pla2g6	C	T	15: 79,287,747	V637I	probably damaging	Het
Plac1	A	C	X: 53,070,716	V39G	probably damaging	Het
Pparg	A	G	6: 115,439,861	E5G	probably damaging	Het
Ppp1r9a	A	G	6: 5,157,023	D967G	possibly damaging	Het
Rel	T	C	11: 23,744,266	T322A	probably benign	Het
Sgk3	A	G	1: 9,877,245	T137A	probably benign	Het
Sgpp2	A	G	1: 78,390,547	R106G	probably benign	Het
Slc27a5	T	A	7: 12,991,057	M459L	probably benign	Het
Snx21	T	C	2: 164,786,220	L52P	probably damaging	Het
Srarp	G	A	4: 141,433,273	T83M	probably benign	Het
Sstr2	A	G	11: 113,624,995	R247G	probably benign	Het
Tnpo3	G	A	6: 29,589,048	S101L	probably damaging	Het
Zan	A	G	5: 137,389,360	I4863T	unknown	Het

Other mutations in Pcdhb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Pcdhb11	APN	18	37421973	missense	probably benign	0.00
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
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

Posted On

2013-04-17