Mutagenetix > Incidental Mutation

Incidental Mutation 'R2890:Pcdhb9'

260081

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb9

Ensembl Gene

ENSMUSG00000051242

Gene Name

protocadherin beta 9

Synonyms

Pcdhb4C, PcdhbI

MMRRC Submission

040478-MU

Accession Numbers

Essential gene?

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

Stock #

R2890 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37533908-37536962 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37536379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 791 (C791Y)

Ref Sequence

ENSEMBL: ENSMUSP00000058801 (fasta)

Gene Model

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

AlphaFold

E9Q5G2

Predicted Effect

probably benign
Transcript: ENSMUST00000057228
AA Change: C791Y

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: C791Y

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

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	A	T	X: 77,414,288 (GRCm39)	I338F	probably damaging	Het
A1cf	A	G	19: 31,895,417 (GRCm39)	I167V	probably benign	Het
Adamts20	C	T	15: 94,228,459 (GRCm39)	R996H	probably benign	Het
Amdhd1	T	C	10: 93,363,126 (GRCm39)	K321E	probably benign	Het
Baz1a	T	C	12: 54,945,302 (GRCm39)	H1351R	probably benign	Het
Cep63	T	C	9: 102,496,026 (GRCm39)	D127G	probably damaging	Het
Chrm5	T	C	2: 112,310,048 (GRCm39)	Y356C	probably benign	Het
Dock4	A	T	12: 40,673,800 (GRCm39)		probably null	Het
Dync1h1	T	C	12: 110,583,325 (GRCm39)	L474P	probably damaging	Het
Fzd7	C	T	1: 59,523,593 (GRCm39)	A492V	probably benign	Het
Greb1	A	G	12: 16,754,479 (GRCm39)	L876P	probably damaging	Het
Grik4	T	C	9: 42,582,515 (GRCm39)	T144A	probably damaging	Het
Gusb	T	C	5: 130,029,343 (GRCm39)	H146R	probably damaging	Het
Hspg2	T	C	4: 137,276,885 (GRCm39)	V2835A	probably damaging	Het
Lamp1	T	A	8: 13,223,891 (GRCm39)	L341H	probably damaging	Het
Lcn10	T	C	2: 25,573,642 (GRCm39)	L73P	probably damaging	Het
Nostrin	A	G	2: 69,011,249 (GRCm39)	T347A	probably benign	Het
Or4k41	A	T	2: 111,279,634 (GRCm39)	I50F	probably benign	Het
Phex	T	C	X: 156,093,954 (GRCm39)	I439V	probably benign	Het
Rbsn	C	T	6: 92,184,104 (GRCm39)	V70M	possibly damaging	Het
Slc25a1	A	T	16: 17,743,963 (GRCm39)	L251Q	probably damaging	Het
Slc35a5	A	G	16: 44,971,923 (GRCm39)	C114R	probably damaging	Het
Srek1ip1	A	T	13: 104,970,758 (GRCm39)	I70L	probably benign	Het
Taf4b	T	C	18: 14,937,849 (GRCm39)	S278P	probably damaging	Het
Ttn	T	C	2: 76,726,498 (GRCm39)		probably benign	Het
Vmn2r13	T	C	5: 109,339,840 (GRCm39)	D45G	possibly damaging	Het
Vmn2r66	C	T	7: 84,661,027 (GRCm39)		probably null	Het
Ylpm1	G	T	12: 85,076,587 (GRCm39)	R646L	probably damaging	Het
Zfp51	C	G	17: 21,684,118 (GRCm39)	C244W	probably damaging	Het
Zfp619	C	A	7: 39,184,393 (GRCm39)	T141K	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACATTGTACCTGGTCATTGCC -3'
(R):5'- ACATGCACAAGGTAGTTTCTCC -3'

Sequencing Primer
(F):5'- GTACCTGGTCATTGCCTTGGC -3'
(R):5'- GCACAAGGTAGTTTCTCCTAAAG -3'

Posted On

2015-01-23