Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01862:Pcdhb7'

178354

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb7

Ensembl Gene

ENSMUSG00000045062

Gene Name

protocadherin beta 7

Synonyms

PcdhbG, Pcdhb4B

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

IGL01862

Quality Score

Status

Chromosome

Chromosomal Location

37474755-37478255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37476915 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 684 (S684P)

Ref Sequence

ENSEMBL: ENSMUSP00000051041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053037] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q8CDY9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053037
AA Change: S684P

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000051041
Gene: ENSMUSG00000045062
AA Change: S684P

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	61	143	1.4e-32	PFAM
CA	186	271	5.47e-17	SMART
CA	295	376	4.43e-26	SMART
CA	399	480	1.04e-22	SMART
CA	504	590	2.12e-23	SMART
CA	620	701	5.73e-11	SMART
Pfam:Cadherin_C_2	718	801	5.5e-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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	T	11: 109,837,997 (GRCm39)	S1085*	probably null	Het
Akap9	T	G	5: 4,001,705 (GRCm39)	S94A	probably damaging	Het
Akap9	T	A	5: 4,115,856 (GRCm39)	N3425K	probably damaging	Het
Anapc7	T	A	5: 122,578,182 (GRCm39)	I389N	probably benign	Het
Aqp7	G	A	4: 41,045,321 (GRCm39)	R20*	probably null	Het
Cacna1h	C	T	17: 25,602,457 (GRCm39)	G1524R	probably damaging	Het
Cacng4	T	C	11: 107,685,196 (GRCm39)	Y32C	probably damaging	Het
Cep120	A	C	18: 53,847,839 (GRCm39)	S673R	probably benign	Het
Cep162	T	C	9: 87,135,986 (GRCm39)	E19G	possibly damaging	Het
Cpxm2	C	T	7: 131,661,540 (GRCm39)	V416I	probably benign	Het
Dapk1	A	G	13: 60,874,424 (GRCm39)	T427A	probably benign	Het
Ecm1	A	T	3: 95,641,586 (GRCm39)	D549E	probably benign	Het
Efemp1	T	A	11: 28,871,428 (GRCm39)	N342K	probably damaging	Het
Erc2	T	C	14: 27,993,526 (GRCm39)		probably benign	Het
Fhip2b	C	T	14: 70,825,130 (GRCm39)	R402H	probably benign	Het
Galnt13	T	C	2: 54,747,926 (GRCm39)	V269A	probably damaging	Het
Gm6465	T	G	5: 11,899,020 (GRCm39)	L171R	probably damaging	Het
Gpatch1	A	G	7: 34,994,703 (GRCm39)	V521A	probably benign	Het
Heatr5b	A	T	17: 79,103,914 (GRCm39)	V1087E	possibly damaging	Het
Ikzf2	A	T	1: 69,578,057 (GRCm39)	V484D	probably damaging	Het
Ints4	T	A	7: 97,190,360 (GRCm39)	V953E	probably damaging	Het
Iqce	T	C	5: 140,685,480 (GRCm39)	D15G	possibly damaging	Het
Kif3a	T	A	11: 53,461,368 (GRCm39)	N4K	possibly damaging	Het
Lrch4	A	T	5: 137,635,271 (GRCm39)	I254F	probably damaging	Het
Ly75	A	T	2: 60,129,516 (GRCm39)	V1623D	probably damaging	Het
Mapt	T	A	11: 104,180,828 (GRCm39)		probably benign	Het
Mast1	A	T	8: 85,639,875 (GRCm39)		probably null	Het
Mcc	G	T	18: 44,892,363 (GRCm39)	Q84K	probably benign	Het
Mgat4f	G	A	1: 134,318,349 (GRCm39)	V374I	probably benign	Het
Mtfr2	G	A	10: 20,224,149 (GRCm39)	V28M	probably benign	Het
Myh8	T	A	11: 67,180,520 (GRCm39)	Y585*	probably null	Het
Napsa	T	C	7: 44,231,917 (GRCm39)	V202A	probably damaging	Het
Nsd2	A	G	5: 34,001,080 (GRCm39)	K199R	probably null	Het
Ntpcr	C	T	8: 126,462,837 (GRCm39)	A18V	probably benign	Het
Or2aj4	A	T	16: 19,385,426 (GRCm39)	M69K	probably damaging	Het
Or2g25	G	T	17: 37,970,368 (GRCm39)	N285K	probably damaging	Het
Or56b35	T	A	7: 104,963,439 (GRCm39)	I76N	probably damaging	Het
Or5g9	G	T	2: 85,552,472 (GRCm39)	C241F	probably damaging	Het
Or8b9	A	G	9: 37,766,477 (GRCm39)	D121G	probably damaging	Het
Os9	A	G	10: 126,935,573 (GRCm39)	V299A	probably benign	Het
Phf19	A	C	2: 34,787,067 (GRCm39)		probably null	Het
Pkd1l3	G	A	8: 110,357,908 (GRCm39)		probably null	Het
Pkhd1	A	G	1: 20,429,134 (GRCm39)	I2422T	probably damaging	Het
Plxna2	T	A	1: 194,326,258 (GRCm39)	V64E	possibly damaging	Het
Psme4	T	A	11: 30,762,038 (GRCm39)	C459*	probably null	Het
Ptk6	T	C	2: 180,841,433 (GRCm39)	S159G	probably benign	Het
Rhd	T	C	4: 134,617,650 (GRCm39)	I329T	possibly damaging	Het
Scfd1	A	G	12: 51,492,494 (GRCm39)	Y601C	probably damaging	Het
Shroom3	T	C	5: 93,110,148 (GRCm39)	S1753P	probably damaging	Het
Slc8a1	A	C	17: 81,749,630 (GRCm39)		probably null	Het
Spg7	T	A	8: 123,803,669 (GRCm39)	L233Q	probably damaging	Het
Strip1	C	A	3: 107,529,198 (GRCm39)	R353L	probably damaging	Het
Ubr1	T	C	2: 120,764,823 (GRCm39)	N544D	possibly damaging	Het
Ubr4	A	G	4: 139,204,469 (GRCm39)	T4794A	possibly damaging	Het
Usp24	A	G	4: 106,266,095 (GRCm39)		probably benign	Het
Vmn1r193	A	T	13: 22,403,984 (GRCm39)	C3S	probably benign	Het
Yju2b	G	T	8: 84,987,163 (GRCm39)		probably benign	Het
Zdhhc5	C	T	2: 84,520,836 (GRCm39)	R447H	probably benign	Het
Zfp202	A	G	9: 40,123,124 (GRCm39)	I629V	probably benign	Het
Zfp462	T	A	4: 55,023,441 (GRCm39)	C990S	probably damaging	Het

Other mutations in Pcdhb7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01668:Pcdhb7	APN	18	37,476,205 (GRCm39)	missense	probably benign	0.35
IGL01806:Pcdhb7	APN	18	37,475,548 (GRCm39)	missense	possibly damaging	0.60
IGL01961:Pcdhb7	APN	18	37,475,526 (GRCm39)	missense	probably damaging	1.00
R0184:Pcdhb7	UTSW	18	37,476,443 (GRCm39)	missense	probably benign	0.44
R0426:Pcdhb7	UTSW	18	37,475,857 (GRCm39)	missense	probably damaging	0.99
R0576:Pcdhb7	UTSW	18	37,475,410 (GRCm39)	missense	probably benign	0.01
R0646:Pcdhb7	UTSW	18	37,476,442 (GRCm39)	missense	probably damaging	1.00
R0656:Pcdhb7	UTSW	18	37,474,954 (GRCm39)	missense	probably benign	0.01
R1216:Pcdhb7	UTSW	18	37,476,927 (GRCm39)	missense	probably damaging	0.99
R1851:Pcdhb7	UTSW	18	37,475,631 (GRCm39)	missense	possibly damaging	0.69
R2168:Pcdhb7	UTSW	18	37,476,335 (GRCm39)	missense	probably benign	0.05
R2312:Pcdhb7	UTSW	18	37,475,250 (GRCm39)	missense	probably benign
R3153:Pcdhb7	UTSW	18	37,476,126 (GRCm39)	missense	probably damaging	1.00
R3758:Pcdhb7	UTSW	18	37,476,079 (GRCm39)	missense	possibly damaging	0.84
R3763:Pcdhb7	UTSW	18	37,474,936 (GRCm39)	missense	probably benign
R3940:Pcdhb7	UTSW	18	37,477,021 (GRCm39)	missense	probably damaging	1.00
R3949:Pcdhb7	UTSW	18	37,476,141 (GRCm39)	missense	probably benign	0.00
R4418:Pcdhb7	UTSW	18	37,476,535 (GRCm39)	missense	probably benign	0.08
R4580:Pcdhb7	UTSW	18	37,475,188 (GRCm39)	missense	probably damaging	1.00
R4880:Pcdhb7	UTSW	18	37,475,284 (GRCm39)	missense	probably benign	0.00
R4936:Pcdhb7	UTSW	18	37,475,203 (GRCm39)	missense	probably damaging	1.00
R4936:Pcdhb7	UTSW	18	37,475,202 (GRCm39)	nonsense	probably null
R5086:Pcdhb7	UTSW	18	37,476,162 (GRCm39)	missense	possibly damaging	0.56
R5517:Pcdhb7	UTSW	18	37,474,846 (GRCm39)	intron	probably benign
R5570:Pcdhb7	UTSW	18	37,477,224 (GRCm39)	missense	probably benign	0.35
R5827:Pcdhb7	UTSW	18	37,475,077 (GRCm39)	missense	probably benign	0.14
R6187:Pcdhb7	UTSW	18	37,475,622 (GRCm39)	missense	probably benign	0.23
R6194:Pcdhb7	UTSW	18	37,475,199 (GRCm39)	missense	probably damaging	0.98
R6195:Pcdhb7	UTSW	18	37,475,709 (GRCm39)	missense	probably benign	0.33
R6373:Pcdhb7	UTSW	18	37,475,264 (GRCm39)	nonsense	probably null
R6398:Pcdhb7	UTSW	18	37,476,487 (GRCm39)	missense	possibly damaging	0.86
R6437:Pcdhb7	UTSW	18	37,475,743 (GRCm39)	missense	probably damaging	0.96
R6587:Pcdhb7	UTSW	18	37,477,156 (GRCm39)	missense	probably benign
R6596:Pcdhb7	UTSW	18	37,476,414 (GRCm39)	missense	probably damaging	0.97
R6646:Pcdhb7	UTSW	18	37,477,027 (GRCm39)	missense	possibly damaging	0.90
R6702:Pcdhb7	UTSW	18	37,474,959 (GRCm39)	missense	probably benign	0.03
R6923:Pcdhb7	UTSW	18	37,475,522 (GRCm39)	splice site	probably null
R6976:Pcdhb7	UTSW	18	37,476,631 (GRCm39)	missense	probably benign	0.12
R7038:Pcdhb7	UTSW	18	37,475,257 (GRCm39)	missense	possibly damaging	0.90
R7325:Pcdhb7	UTSW	18	37,476,440 (GRCm39)	missense	probably benign	0.00
R7509:Pcdhb7	UTSW	18	37,475,074 (GRCm39)	missense	possibly damaging	0.68
R7598:Pcdhb7	UTSW	18	37,475,833 (GRCm39)	missense	probably damaging	1.00
R7622:Pcdhb7	UTSW	18	37,475,514 (GRCm39)	missense	probably benign	0.06
R7828:Pcdhb7	UTSW	18	37,476,915 (GRCm39)	missense	probably damaging	1.00
R9598:Pcdhb7	UTSW	18	37,475,434 (GRCm39)	missense	probably damaging	1.00
Z1177:Pcdhb7	UTSW	18	37,476,261 (GRCm39)	missense	probably benign	0.12

Posted On

2014-05-07