Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01961:Pcdhb7'

182412

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 #

IGL01961

Quality Score

Status

Chromosome

Chromosomal Location

37474755-37478255 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37475526 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 221 (K221E)

Ref Sequence

ENSEMBL: ENSMUSP00000051041 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053037] [ENSMUST00000061717] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

Q8CDY9

Predicted Effect

probably damaging
Transcript: ENSMUST00000053037
AA Change: K221E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000051041
Gene: ENSMUSG00000045062
AA Change: K221E

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: ENSMUST00000061717

SMART Domains

Protein: ENSMUSP00000058592
Gene: ENSMUSG00000051678

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	30	112	2.7e-33	PFAM
CA	155	240	1.48e-22	SMART
CA	264	344	3.02e-28	SMART
CA	367	448	1.69e-22	SMART
CA	472	558	1.65e-25	SMART
CA	588	669	6.24e-12	SMART
Pfam:Cadherin_C_2	685	768	4.7e-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: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Catsperg2	A	G	7: 29,421,097 (GRCm39)		probably benign	Het
Gm9958	C	A	5: 90,515,837 (GRCm39)		probably benign	Het
Kdelr2	T	C	5: 143,406,556 (GRCm39)	V202A	probably benign	Het
Mideas	T	C	12: 84,220,388 (GRCm39)	K189E	probably damaging	Het
Mlh3	T	C	12: 85,313,118 (GRCm39)	R1023G	probably benign	Het
Ptprq	A	G	10: 107,479,515 (GRCm39)	S1171P	probably damaging	Het
Sez6l	G	A	5: 112,619,597 (GRCm39)	T345M	probably damaging	Het
Skint7	T	C	4: 111,834,660 (GRCm39)	Y15H	probably benign	Het
Strip2	T	C	6: 29,928,426 (GRCm39)		probably benign	Het
Syne1	C	A	10: 4,993,723 (GRCm39)	R8339M	possibly damaging	Het
Tmtc3	A	T	10: 100,282,893 (GRCm39)	D887E	probably benign	Het
Ush1g	A	G	11: 115,209,361 (GRCm39)	S278P	probably benign	Het
Wars1	A	T	12: 108,832,096 (GRCm39)	M323K	probably damaging	Het
Zc3h11a	G	A	1: 133,554,805 (GRCm39)	R392W	probably benign	Het
Zswim8	T	C	14: 20,762,402 (GRCm39)	F305L	possibly 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
IGL01862:Pcdhb7	APN	18	37,476,915 (GRCm39)	missense	possibly damaging	0.81
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