Mutagenetix > Incidental Mutation

Incidental Mutation 'R1277:Pcdhb11'

150936

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb11

Ensembl Gene

ENSMUSG00000051486

Gene Name

protocadherin beta 11

Synonyms

Pcdhb5E, PcdhbK

MMRRC Submission

039343-MU

Accession Numbers

Genbank: NM_053136.3; Ensembl: ENSMUST00000053073

Essential gene?

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

Stock #

R1277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37421418-37425836 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37421716 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 33 (Y33F)

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: Y33F

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: Y33F

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: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Appl1	A	C	14: 26,927,856	V571G	possibly damaging	Het
Chd6	A	T	2: 160,967,815	C1509S	probably damaging	Het
Clk4	A	G	11: 51,267,189	T7A	probably benign	Het
Crlf2	C	T	5: 109,557,600	V30I	possibly damaging	Het
Itpr1	A	G	6: 108,339,621	H93R	probably benign	Het
Lrp1b	A	G	2: 40,725,945	V3593A	probably benign	Het
Nudt12	G	A	17: 59,010,136	P172L	probably damaging	Het
Pkd2	A	G	5: 104,502,359	I862V	probably damaging	Het
Prl3c1	T	C	13: 27,203,572	L180P	probably damaging	Het
Ralgps1	A	G	2: 33,174,425	V228A	possibly damaging	Het
Rfx7	A	G	9: 72,593,312	E118G	probably benign	Het
Slc17a8	T	C	10: 89,597,457	T51A	possibly damaging	Het
Uhrf1bp1	T	C	17: 27,890,071	F1088S	possibly damaging	Het
Zfp414	G	T	17: 33,630,475		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
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

Predicted Primers

PCR Primer
(F):5'- CCCAGGAAGCCATCTCATTAAGTCG -3'
(R):5'- CCAGTCTCTGCATCCATCTGCAAG -3'

Sequencing Primer
(F):5'- TCTCATTAAGTCGAGACAGAACG -3'
(R):5'- CGTTTGCCACCAAATAGCCA -3'

Posted On

2014-01-29