Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01557:Pcdhb9'

90745

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 #

IGL01557

Quality Score

Status

Chromosome

Chromosomal Location

37533908-37536962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37536100 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 698 (V698A)

Ref Sequence

ENSEMBL: ENSMUSP00000058801 (fasta)

Gene Model

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

AlphaFold

E9Q5G2

Predicted Effect

probably damaging
Transcript: ENSMUST00000057228
AA Change: V698A

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

SMART Domains

Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: V698A

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts19	T	A	18: 59,101,792 (GRCm39)		probably null	Het
Arl9	T	G	5: 77,151,948 (GRCm39)		probably null	Het
Ces3a	C	A	8: 105,784,383 (GRCm39)	T439K	probably damaging	Het
Cyp3a25	A	G	5: 145,921,711 (GRCm39)	W408R	probably damaging	Het
Defb22	T	G	2: 152,327,999 (GRCm39)	D62A	possibly damaging	Het
Dnah17	C	T	11: 117,964,512 (GRCm39)	R2422Q	probably damaging	Het
Ehd3	A	G	17: 74,112,275 (GRCm39)	K13R	probably benign	Het
Fndc1	T	C	17: 7,975,221 (GRCm39)	E1406G	probably damaging	Het
Gak	A	C	5: 108,732,203 (GRCm39)	Y762D	probably damaging	Het
Igf2r	A	G	17: 12,923,522 (GRCm39)	S1187P	possibly damaging	Het
Ighmbp2	T	C	19: 3,331,472 (GRCm39)	E68G	probably benign	Het
Itpr2	T	C	6: 146,060,474 (GRCm39)	T2448A	probably damaging	Het
Lrrk2	T	G	15: 91,584,192 (GRCm39)	C317W	probably damaging	Het
Morc1	T	A	16: 48,319,129 (GRCm39)	S278T	probably damaging	Het
Mrps9	T	C	1: 42,890,510 (GRCm39)	V20A	probably benign	Het
Nutm1	A	T	2: 112,082,163 (GRCm39)	N304K	probably benign	Het
Or14j8	G	A	17: 38,263,742 (GRCm39)	P58S	probably damaging	Het
Pitrm1	C	A	13: 6,602,720 (GRCm39)	D70E	probably benign	Het
Pkhd1	T	C	1: 20,187,203 (GRCm39)	T3702A	possibly damaging	Het
Ppm1h	A	T	10: 122,618,086 (GRCm39)		probably null	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Ptpn5	T	C	7: 46,731,636 (GRCm39)	Y411C	probably damaging	Het
Spon2	G	A	5: 33,374,047 (GRCm39)	A112V	probably damaging	Het
Zfp648	T	A	1: 154,080,426 (GRCm39)	V195D	probably benign	Het

Other mutations in Pcdhb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Pcdhb9	APN	18	37,536,332 (GRCm39)	missense	possibly damaging	0.59
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

2013-12-09