Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02164:Pcdhb11'

282555

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb11

Ensembl Gene

ENSMUSG00000051486

Gene Name

protocadherin beta 11

Synonyms

PcdhbK, Pcdhb5E

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

IGL02164

Quality Score

Status

Chromosome

Chromosomal Location

37554471-37558085 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 37556412 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 581 (S581A)

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: S581A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: S581A

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	T	A	5: 48,537,524 (GRCm39)	V187E	probably benign	Het
Abcc12	T	A	8: 87,254,033 (GRCm39)	D917V	probably damaging	Het
Abhd15	A	T	11: 77,406,840 (GRCm39)	E272D	probably benign	Het
Adat3	T	A	10: 80,442,461 (GRCm39)	S100T	probably benign	Het
Adgrg6	T	C	10: 14,399,299 (GRCm39)		probably benign	Het
Alpl	C	T	4: 137,481,290 (GRCm39)	V121M	probably damaging	Het
Ano1	A	T	7: 144,190,918 (GRCm39)	Y388N	possibly damaging	Het
Arrdc4	C	T	7: 68,389,285 (GRCm39)		probably benign	Het
Asxl2	A	G	12: 3,552,079 (GRCm39)	M1274V	probably benign	Het
Bmt2	G	T	6: 13,628,878 (GRCm39)	N268K	possibly damaging	Het
Bpifb2	C	A	2: 153,725,482 (GRCm39)	L176M	probably damaging	Het
Brd8	C	T	18: 34,735,780 (GRCm39)	S899N	probably damaging	Het
Cd14	T	C	18: 36,858,838 (GRCm39)	R206G	possibly damaging	Het
Cfap65	G	T	1: 74,967,304 (GRCm39)	T215K	possibly damaging	Het
Chd9	T	C	8: 91,659,849 (GRCm39)	S270P	possibly damaging	Het
Cidea	C	T	18: 67,499,581 (GRCm39)	S156L	probably damaging	Het
Col5a3	A	G	9: 20,703,939 (GRCm39)		probably null	Het
Cspg5	T	C	9: 110,080,104 (GRCm39)	V424A	probably damaging	Het
Ctc1	A	G	11: 68,916,922 (GRCm39)	H272R	probably damaging	Het
D5Ertd579e	A	T	5: 36,772,303 (GRCm39)	S697R	probably damaging	Het
Dennd3	T	C	15: 73,416,297 (GRCm39)	S516P	probably benign	Het
Dipk2b	T	A	X: 18,285,192 (GRCm39)	R421*	probably null	Het
Dlgap4	G	A	2: 156,553,059 (GRCm39)	R509H	probably damaging	Het
Dus3l	T	C	17: 57,074,943 (GRCm39)		probably benign	Het
Dync1h1	G	T	12: 110,628,993 (GRCm39)	W4183C	probably damaging	Het
Eif2s3x	A	T	X: 93,248,678 (GRCm39)	M152K	possibly damaging	Het
Epb41l1	C	T	2: 156,336,869 (GRCm39)		probably benign	Het
Ephx2	A	G	14: 66,341,169 (GRCm39)		probably benign	Het
Fabp12	T	A	3: 10,311,075 (GRCm39)	Y129F	probably damaging	Het
Fat3	A	G	9: 15,942,720 (GRCm39)		probably benign	Het
Fat4	T	C	3: 39,050,354 (GRCm39)		probably null	Het
Gnb1	T	A	4: 155,641,631 (GRCm39)		probably null	Het
Gpr107	C	A	2: 31,068,298 (GRCm39)	Y253*	probably null	Het
Grb10	C	T	11: 11,893,962 (GRCm39)	E320K	probably damaging	Het
Gucy2g	G	T	19: 55,226,455 (GRCm39)	H154N	probably benign	Het
H2bl1	T	C	13: 99,120,715 (GRCm39)	K104E	probably damaging	Het
Hemk1	T	A	9: 107,208,735 (GRCm39)	H154L	probably benign	Het
Hk2	A	T	6: 82,720,920 (GRCm39)		probably null	Het
Htr5a	A	G	5: 28,047,463 (GRCm39)	N6S	probably damaging	Het
Htra3	T	C	5: 35,810,410 (GRCm39)	D424G	probably benign	Het
Ift52	A	G	2: 162,867,384 (GRCm39)		probably null	Het
Igdcc4	A	G	9: 65,032,064 (GRCm39)		probably benign	Het
Itpr1	A	G	6: 108,366,444 (GRCm39)	K124E	probably benign	Het
Kcnc2	T	A	10: 112,291,590 (GRCm39)	N259K	possibly damaging	Het
Kics2	A	G	10: 121,586,675 (GRCm39)	Y194C	probably damaging	Het
Lmod2	A	T	6: 24,603,909 (GRCm39)	I295F	possibly damaging	Het
Lrp1	T	C	10: 127,399,536 (GRCm39)	E2324G	probably benign	Het
Lss	T	C	10: 76,372,094 (GRCm39)	S150P	probably damaging	Het
Macf1	T	C	4: 123,374,065 (GRCm39)	N1515S	probably benign	Het
Mapk11	T	C	15: 89,029,651 (GRCm39)		probably null	Het
Mc3r	T	A	2: 172,091,314 (GRCm39)	F179I	probably damaging	Het
Mtmr9	T	A	14: 63,767,737 (GRCm39)	N291Y	probably damaging	Het
Myo1h	T	C	5: 114,472,157 (GRCm39)	F396L	probably damaging	Het
Nek2	A	G	1: 191,559,416 (GRCm39)	K307R	probably benign	Het
Or12d2	C	A	17: 37,624,578 (GRCm39)	M232I	probably benign	Het
Osmr	G	A	15: 6,871,529 (GRCm39)	T296I	probably damaging	Het
Pfkp	C	T	13: 6,647,951 (GRCm39)	V542M	probably damaging	Het
Pmpca	C	T	2: 26,285,581 (GRCm39)	S519L	probably benign	Het
Ptgds	A	T	2: 25,359,124 (GRCm39)	Y44N	probably damaging	Het
Raly	T	A	2: 154,701,849 (GRCm39)	Y116*	probably null	Het
Rock2	A	G	12: 17,015,530 (GRCm39)	D809G	probably damaging	Het
Sgsm2	T	G	11: 74,756,242 (GRCm39)	N369T	possibly damaging	Het
Slc6a15	A	G	10: 103,254,083 (GRCm39)	D673G	probably benign	Het
Spire2	A	T	8: 124,059,703 (GRCm39)	D67V	probably damaging	Het
St7l	T	C	3: 104,829,597 (GRCm39)		probably null	Het
Stau2	A	G	1: 16,416,052 (GRCm39)	L469P	probably damaging	Het
Tefm	A	G	11: 80,030,915 (GRCm39)	L107S	probably damaging	Het
Ticam1	A	T	17: 56,577,019 (GRCm39)	V692D	unknown	Het
Tipin	T	A	9: 64,201,631 (GRCm39)	D143E	probably damaging	Het
Tmem132c	C	A	5: 127,613,441 (GRCm39)	T448K	probably damaging	Het
Trav8-1	A	T	14: 53,707,213 (GRCm39)	M1L	unknown	Het
Ttn	C	A	2: 76,569,141 (GRCm39)	V27251F	probably damaging	Het
Uvrag	A	T	7: 98,653,896 (GRCm39)	C31*	probably null	Het
Zap70	T	C	1: 36,810,267 (GRCm39)	Y126H	probably damaging	Het
Zfp644	A	G	5: 106,785,965 (GRCm39)	V194A	probably benign	Het
Zfp663	C	T	2: 165,200,968 (GRCm39)	W22*	probably null	Het

Other mutations in Pcdhb11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Pcdhb11	APN	18	37,555,026 (GRCm39)	missense	probably benign	0.00
IGL00906:Pcdhb11	APN	18	37,555,174 (GRCm39)	missense	possibly damaging	0.67
IGL01610:Pcdhb11	APN	18	37,556,412 (GRCm39)	missense	probably benign	0.00
IGL01973:Pcdhb11	APN	18	37,556,565 (GRCm39)	missense	probably damaging	1.00
IGL01977:Pcdhb11	APN	18	37,555,344 (GRCm39)	missense	possibly damaging	0.49
IGL02282:Pcdhb11	APN	18	37,556,881 (GRCm39)	missense	probably damaging	1.00
IGL02674:Pcdhb11	APN	18	37,556,667 (GRCm39)	missense	probably damaging	1.00
IGL02965:Pcdhb11	APN	18	37,557,021 (GRCm39)	missense	probably benign
IGL03197:Pcdhb11	APN	18	37,555,477 (GRCm39)	nonsense	probably null
1mM(1):Pcdhb11	UTSW	18	37,557,010 (GRCm39)	missense	probably benign	0.00
R0001:Pcdhb11	UTSW	18	37,557,042 (GRCm39)	missense	probably benign	0.06
R0383:Pcdhb11	UTSW	18	37,556,446 (GRCm39)	missense	probably damaging	1.00
R0421:Pcdhb11	UTSW	18	37,555,533 (GRCm39)	missense	probably benign	0.04
R0422:Pcdhb11	UTSW	18	37,554,923 (GRCm39)	missense	probably damaging	1.00
R0427:Pcdhb11	UTSW	18	37,555,818 (GRCm39)	missense	probably damaging	1.00
R0542:Pcdhb11	UTSW	18	37,556,887 (GRCm39)	missense	probably damaging	1.00
R0620:Pcdhb11	UTSW	18	37,554,864 (GRCm39)	nonsense	probably null
R1014:Pcdhb11	UTSW	18	37,556,422 (GRCm39)	missense	probably damaging	1.00
R1277:Pcdhb11	UTSW	18	37,554,769 (GRCm39)	missense	possibly damaging	0.79
R2034:Pcdhb11	UTSW	18	37,555,546 (GRCm39)	missense	probably benign	0.00
R2142:Pcdhb11	UTSW	18	37,555,176 (GRCm39)	missense	probably benign	0.28
R2496:Pcdhb11	UTSW	18	37,555,375 (GRCm39)	missense	probably benign	0.30
R3077:Pcdhb11	UTSW	18	37,555,297 (GRCm39)	missense	probably benign	0.08
R4560:Pcdhb11	UTSW	18	37,556,787 (GRCm39)	missense	possibly damaging	0.61
R4590:Pcdhb11	UTSW	18	37,555,549 (GRCm39)	missense	probably damaging	0.98
R4642:Pcdhb11	UTSW	18	37,555,021 (GRCm39)	missense	probably benign	0.01
R4729:Pcdhb11	UTSW	18	37,555,419 (GRCm39)	nonsense	probably null
R5012:Pcdhb11	UTSW	18	37,556,029 (GRCm39)	missense	possibly damaging	0.48
R5364:Pcdhb11	UTSW	18	37,555,232 (GRCm39)	missense	probably benign	0.06
R5910:Pcdhb11	UTSW	18	37,556,796 (GRCm39)	missense	probably benign	0.43
R6023:Pcdhb11	UTSW	18	37,555,978 (GRCm39)	missense	possibly damaging	0.94
R6106:Pcdhb11	UTSW	18	37,556,056 (GRCm39)	missense	probably damaging	1.00
R6254:Pcdhb11	UTSW	18	37,554,771 (GRCm39)	missense	probably damaging	0.99
R6276:Pcdhb11	UTSW	18	37,554,813 (GRCm39)	missense	probably benign	0.36
R6360:Pcdhb11	UTSW	18	37,555,212 (GRCm39)	missense	probably benign
R6699:Pcdhb11	UTSW	18	37,555,990 (GRCm39)	missense	probably damaging	1.00
R6732:Pcdhb11	UTSW	18	37,555,197 (GRCm39)	missense	probably benign
R6760:Pcdhb11	UTSW	18	37,554,637 (GRCm39)	intron	probably benign
R6916:Pcdhb11	UTSW	18	37,555,434 (GRCm39)	missense	possibly damaging	0.52
R7130:Pcdhb11	UTSW	18	37,556,559 (GRCm39)	missense	probably benign	0.04
R7267:Pcdhb11	UTSW	18	37,555,006 (GRCm39)	missense	possibly damaging	0.61
R7426:Pcdhb11	UTSW	18	37,556,313 (GRCm39)	missense	probably damaging	0.99
R7444:Pcdhb11	UTSW	18	37,555,672 (GRCm39)	missense	probably damaging	0.98
R7492:Pcdhb11	UTSW	18	37,556,497 (GRCm39)	missense	probably damaging	1.00
R7504:Pcdhb11	UTSW	18	37,554,852 (GRCm39)	missense	probably benign
R7537:Pcdhb11	UTSW	18	37,554,672 (GRCm39)	start codon destroyed	possibly damaging	0.88
R7728:Pcdhb11	UTSW	18	37,556,530 (GRCm39)	missense	probably damaging	1.00
R7817:Pcdhb11	UTSW	18	37,556,962 (GRCm39)	missense	probably damaging	1.00
R8071:Pcdhb11	UTSW	18	37,555,422 (GRCm39)	missense	probably benign	0.02
R8229:Pcdhb11	UTSW	18	37,555,671 (GRCm39)	missense	probably benign	0.00
R8254:Pcdhb11	UTSW	18	37,555,242 (GRCm39)	missense	probably benign	0.45
R8356:Pcdhb11	UTSW	18	37,555,252 (GRCm39)	missense	probably damaging	1.00
R8739:Pcdhb11	UTSW	18	37,555,549 (GRCm39)	missense	probably damaging	1.00
R8957:Pcdhb11	UTSW	18	37,555,872 (GRCm39)	missense	probably benign	0.09
R8957:Pcdhb11	UTSW	18	37,554,692 (GRCm39)	missense	probably benign	0.43
R8964:Pcdhb11	UTSW	18	37,556,660 (GRCm39)	missense	probably benign	0.00
R8966:Pcdhb11	UTSW	18	37,556,037 (GRCm39)	missense	possibly damaging	0.67
R9188:Pcdhb11	UTSW	18	37,556,188 (GRCm39)	missense	probably damaging	1.00
R9253:Pcdhb11	UTSW	18	37,554,529 (GRCm39)	intron	probably benign
R9632:Pcdhb11	UTSW	18	37,556,019 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16