Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00157:Pcdhb9'

744

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pcdhb9

Ensembl Gene

ENSMUSG00000051242

Gene Name

protocadherin beta 9

Synonyms

Pcdhb4C, PcdhbI

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

IGL00157

Quality Score

Status

Chromosome

Chromosomal Location

37533908-37536962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37536332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 775 (D775E)

Ref Sequence

ENSEMBL: ENSMUSP00000058801 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057228] [ENSMUST00000115661] [ENSMUST00000194544]

AlphaFold

E9Q5G2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057228
AA Change: D775E

PolyPhen 2 Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: D775E

Domain	Start	End	E-Value	Type
Pfam:Cadherin_2	65	147	2.3e-33	PFAM
CA	190	275	1.28e-17	SMART
CA	299	380	7.6e-25	SMART
CA	403	484	5.81e-21	SMART
CA	508	594	9.8e-28	SMART
CA	624	705	1.86e-10	SMART
Pfam:Cadherin_C_2	722	805	2.3e-27	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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	A	G	7: 43,902,875 (GRCm39)	V331A	possibly damaging	Het
Casr	C	A	16: 36,316,172 (GRCm39)	V633F	probably damaging	Het
Cblb	T	G	16: 52,003,670 (GRCm39)	V716G	probably benign	Het
Cbln2	C	T	18: 86,734,509 (GRCm39)	Q156*	probably null	Het
Cnn1	G	T	9: 22,010,693 (GRCm39)	L14F	possibly damaging	Het
D830013O20Rik	T	C	12: 73,411,021 (GRCm39)		noncoding transcript	Het
Drd1	A	G	13: 54,207,897 (GRCm39)	S99P	probably damaging	Het
Fat1	T	C	8: 45,404,707 (GRCm39)	V486A	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gm10735	T	C	13: 113,178,018 (GRCm39)		probably benign	Het
H2-T5	A	T	17: 36,476,246 (GRCm39)		probably null	Het
Jag2	T	C	12: 112,876,338 (GRCm39)	T790A	probably benign	Het
Klhdc1	T	A	12: 69,288,782 (GRCm39)	Y31N	possibly damaging	Het
Lama1	A	T	17: 68,122,923 (GRCm39)	M2769L	probably benign	Het
Mms19	A	G	19: 41,933,896 (GRCm39)		probably null	Het
Msrb2	C	A	2: 19,399,152 (GRCm39)	P172T	probably damaging	Het
Or8g35	A	G	9: 39,381,539 (GRCm39)	V161A	probably benign	Het
Or8k41	T	C	2: 86,313,562 (GRCm39)	S175G	probably benign	Het
Pkhd1	T	C	1: 20,637,098 (GRCm39)		probably null	Het
Preb	A	T	5: 31,113,308 (GRCm39)	D375E	probably damaging	Het
Prkdc	T	C	16: 15,515,090 (GRCm39)	I1010T	probably damaging	Het
Rbp2	A	G	9: 98,380,950 (GRCm39)		probably null	Het
Septin9	A	G	11: 117,243,010 (GRCm39)	T66A	probably damaging	Het
Serpinb9b	A	T	13: 33,219,608 (GRCm39)	E178D	probably benign	Het
Shld2	A	G	14: 33,990,582 (GRCm39)	V108A	probably benign	Het
Tg	A	G	15: 66,719,015 (GRCm39)	Y258C	probably damaging	Het
Tmprss7	T	C	16: 45,483,731 (GRCm39)	R548G	probably benign	Het
Uba7	G	A	9: 107,856,310 (GRCm39)	A536T	probably benign	Het
Vmn2r114	G	A	17: 23,510,639 (GRCm39)	P614S	probably damaging	Het
Xpc	A	G	6: 91,469,246 (GRCm39)		probably benign	Het
Yrdc	T	C	4: 124,747,754 (GRCm39)	S86P	probably damaging	Het
Zbed6	G	T	1: 133,585,114 (GRCm39)	A741D	probably damaging	Het

Other mutations in Pcdhb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01557:Pcdhb9	APN	18	37,536,100 (GRCm39)	missense	probably damaging	1.00
IGL01716:Pcdhb9	APN	18	37,536,228 (GRCm39)	missense	probably damaging	0.99
IGL01954:Pcdhb9	APN	18	37,534,794 (GRCm39)	missense	probably damaging	1.00
IGL02063:Pcdhb9	APN	18	37,534,810 (GRCm39)	missense	probably benign	0.21
IGL03057:Pcdhb9	APN	18	37,534,330 (GRCm39)	missense	probably benign	0.00
R0140:Pcdhb9	UTSW	18	37,536,014 (GRCm39)	missense	possibly damaging	0.89
R0180:Pcdhb9	UTSW	18	37,535,307 (GRCm39)	missense	probably damaging	1.00
R0349:Pcdhb9	UTSW	18	37,535,632 (GRCm39)	missense	probably damaging	0.99
R0616:Pcdhb9	UTSW	18	37,535,028 (GRCm39)	nonsense	probably null
R0669:Pcdhb9	UTSW	18	37,535,308 (GRCm39)	missense	probably damaging	1.00
R1256:Pcdhb9	UTSW	18	37,536,169 (GRCm39)	missense	possibly damaging	0.94
R1642:Pcdhb9	UTSW	18	37,533,987 (GRCm39)	intron	probably benign
R1678:Pcdhb9	UTSW	18	37,534,682 (GRCm39)	missense	probably damaging	1.00
R1711:Pcdhb9	UTSW	18	37,536,380 (GRCm39)	nonsense	probably null
R1762:Pcdhb9	UTSW	18	37,536,136 (GRCm39)	missense	probably benign	0.00
R1823:Pcdhb9	UTSW	18	37,535,871 (GRCm39)	missense	probably benign	0.14
R1868:Pcdhb9	UTSW	18	37,535,137 (GRCm39)	missense	probably damaging	1.00
R1959:Pcdhb9	UTSW	18	37,536,369 (GRCm39)	missense	probably damaging	1.00
R2446:Pcdhb9	UTSW	18	37,536,340 (GRCm39)	missense	probably damaging	0.99
R2889:Pcdhb9	UTSW	18	37,536,276 (GRCm39)	missense	probably benign	0.06
R2890:Pcdhb9	UTSW	18	37,536,379 (GRCm39)	missense	probably benign	0.23
R3196:Pcdhb9	UTSW	18	37,534,663 (GRCm39)	missense	probably benign	0.02
R3725:Pcdhb9	UTSW	18	37,534,654 (GRCm39)	missense	possibly damaging	0.95
R3726:Pcdhb9	UTSW	18	37,534,654 (GRCm39)	missense	possibly damaging	0.95
R4179:Pcdhb9	UTSW	18	37,534,168 (GRCm39)	missense	probably benign	0.17
R4326:Pcdhb9	UTSW	18	37,534,876 (GRCm39)	missense	probably benign	0.15
R4326:Pcdhb9	UTSW	18	37,534,875 (GRCm39)	missense	probably benign	0.04
R4327:Pcdhb9	UTSW	18	37,534,876 (GRCm39)	missense	probably benign	0.15
R4327:Pcdhb9	UTSW	18	37,534,875 (GRCm39)	missense	probably benign	0.04
R4329:Pcdhb9	UTSW	18	37,534,876 (GRCm39)	missense	probably benign	0.15
R4329:Pcdhb9	UTSW	18	37,534,875 (GRCm39)	missense	probably benign	0.04
R4626:Pcdhb9	UTSW	18	37,535,302 (GRCm39)	missense	probably benign	0.01
R4738:Pcdhb9	UTSW	18	37,536,468 (GRCm39)	missense	probably benign	0.33
R4888:Pcdhb9	UTSW	18	37,536,286 (GRCm39)	missense	probably benign	0.22
R5140:Pcdhb9	UTSW	18	37,534,186 (GRCm39)	missense	probably benign	0.00
R5186:Pcdhb9	UTSW	18	37,534,285 (GRCm39)	missense	probably damaging	1.00
R5502:Pcdhb9	UTSW	18	37,534,656 (GRCm39)	missense	possibly damaging	0.95
R5586:Pcdhb9	UTSW	18	37,534,167 (GRCm39)	missense	probably benign
R5601:Pcdhb9	UTSW	18	37,535,259 (GRCm39)	missense	probably damaging	1.00
R5624:Pcdhb9	UTSW	18	37,534,459 (GRCm39)	missense	probably benign
R5827:Pcdhb9	UTSW	18	37,535,011 (GRCm39)	missense	possibly damaging	0.72
R5829:Pcdhb9	UTSW	18	37,534,942 (GRCm39)	missense	probably damaging	0.97
R5837:Pcdhb9	UTSW	18	37,535,851 (GRCm39)	missense	probably damaging	1.00
R6147:Pcdhb9	UTSW	18	37,535,494 (GRCm39)	missense	possibly damaging	0.95
R6228:Pcdhb9	UTSW	18	37,535,115 (GRCm39)	missense	probably benign	0.00
R6245:Pcdhb9	UTSW	18	37,536,207 (GRCm39)	missense	probably damaging	1.00
R6304:Pcdhb9	UTSW	18	37,534,420 (GRCm39)	missense	probably damaging	0.99
R6542:Pcdhb9	UTSW	18	37,534,642 (GRCm39)	missense	probably damaging	0.99
R6904:Pcdhb9	UTSW	18	37,534,970 (GRCm39)	missense	probably benign	0.01
R7058:Pcdhb9	UTSW	18	37,536,334 (GRCm39)	missense	probably benign	0.35
R7159:Pcdhb9	UTSW	18	37,534,545 (GRCm39)	missense	possibly damaging	0.89
R7258:Pcdhb9	UTSW	18	37,535,167 (GRCm39)	missense	probably damaging	1.00
R7800:Pcdhb9	UTSW	18	37,534,602 (GRCm39)	missense	probably benign	0.01
R8027:Pcdhb9	UTSW	18	37,536,069 (GRCm39)	missense	possibly damaging	0.81
R8141:Pcdhb9	UTSW	18	37,535,361 (GRCm39)	missense	probably damaging	1.00
R8157:Pcdhb9	UTSW	18	37,536,208 (GRCm39)	missense	probably damaging	1.00
R8729:Pcdhb9	UTSW	18	37,535,639 (GRCm39)	missense	possibly damaging	0.88
R8748:Pcdhb9	UTSW	18	37,535,901 (GRCm39)	missense	probably damaging	1.00
R8833:Pcdhb9	UTSW	18	37,534,468 (GRCm39)	missense	probably benign
R9083:Pcdhb9	UTSW	18	37,535,770 (GRCm39)	missense	probably damaging	1.00
R9562:Pcdhb9	UTSW	18	37,534,665 (GRCm39)	missense	probably benign
R9779:Pcdhb9	UTSW	18	37,535,253 (GRCm39)	missense	probably benign	0.00

Posted On

2011-07-12