Mutagenetix > Incidental Mutations

Incidental Mutation 'R4738:Pcdhb9'

359470

Institutional Source

Beutler Lab

Gene Symbol

Pcdhb9

Ensembl Gene

ENSMUSG00000051242

Gene Name

protocadherin beta 9

Synonyms

PcdhbI, Pcdhb4C

MMRRC Submission

041964-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4738 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37400855-37403909 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37403415 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 821 (C821R)

Ref Sequence

ENSEMBL: ENSMUSP00000058801 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057228
AA Change: C821R

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000058801
Gene: ENSMUSG00000051242
AA Change: C821R

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: 99.1%
3x: 98.4%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 104,973,983	I176T	probably benign	Het
Angpt2	C	T	8: 18,741,059	D74N	probably benign	Het
Apol10a	C	T	15: 77,488,641	T159I	possibly damaging	Het
Areg	T	C	5: 91,146,724	I247T	possibly damaging	Het
Atg16l2	A	G	7: 101,297,178	L129P	probably damaging	Het
Atp6v1b2	T	A	8: 69,103,410	S246T	probably benign	Het
Atp8b1	T	C	18: 64,545,180	R882G	probably benign	Het
Atp9a	A	G	2: 168,668,181	V444A	probably benign	Het
Babam2	T	A	5: 31,901,142	Y211N	probably damaging	Het
Btbd11	C	T	10: 85,627,248	Q626*	probably null	Het
Ccdc127	T	G	13: 74,357,068		probably benign	Het
Cep192	A	T	18: 67,884,830	K2500*	probably null	Het
Cnot4	T	C	6: 35,051,376	N435S	probably benign	Het
Col12a1	T	C	9: 79,699,282	I620V	probably damaging	Het
Cyth4	G	A	15: 78,605,874	M62I	probably benign	Het
Dbt	T	C	3: 116,539,132	I200T	probably damaging	Het
Dchs1	C	T	7: 105,758,673	R1984Q	probably damaging	Het
Depdc5	A	G	5: 32,975,322	M1237V	probably benign	Het
Disp2	A	G	2: 118,790,326	Y513C	probably damaging	Het
Dph7	T	C	2: 24,963,131	S86P	possibly damaging	Het
Eif3b	T	A	5: 140,430,078	M384K	probably benign	Het
Emc1	G	T	4: 139,362,202	G227V	possibly damaging	Het
Eri2	A	G	7: 119,787,732		probably null	Het
Frzb	A	G	2: 80,424,597		probably null	Het
Ganc	T	A	2: 120,452,594	V743D	probably damaging	Het
Gfpt1	C	A	6: 87,054,747		probably benign	Het
Gm3086	A	T	12: 69,969,381		probably benign	Het
Gsdmc2	A	T	15: 63,826,801	Y315*	probably null	Het
Haus6	A	G	4: 86,600,749		probably null	Het
Hhip	C	T	8: 79,992,570	D443N	probably damaging	Het
Isg15	T	C	4: 156,199,862	M70V	probably benign	Het
Kank2	T	C	9: 21,774,619	N653S	probably damaging	Het
Klhdc1	G	T	12: 69,283,133	R345S	probably benign	Het
Larp7	A	G	3: 127,546,045		probably null	Het
Lgals12	A	G	19: 7,604,099	V81A	probably benign	Het
Lhx9	A	G	1: 138,832,748	L288P	probably damaging	Het
Mcpt9	T	A	14: 56,026,999	H213L	probably damaging	Het
Met	T	C	6: 17,491,541	C101R	probably damaging	Het
Myo16	G	T	8: 10,373,527	G288W	probably damaging	Het
Neb	A	C	2: 52,187,482	S1846A	probably damaging	Het
Nr3c2	T	C	8: 76,909,307	S346P	possibly damaging	Het
Olfr1564	A	G	17: 33,215,810	F178S	probably benign	Het
Olfr187	T	C	16: 59,036,195	I181V	probably benign	Het
Olfr376	G	T	11: 73,375,350	L200F	possibly damaging	Het
Olfr487	A	T	7: 108,211,994	N178K	probably damaging	Het
Olfr558	T	A	7: 102,710,171	I304N	probably damaging	Het
Osbpl10	A	G	9: 115,216,574	E426G	probably damaging	Het
Ovgp1	T	C	3: 105,979,918	V210A	probably damaging	Het
Pam	A	T	1: 97,923,132	V167D	probably damaging	Het
Pappa2	T	C	1: 158,957,012	R143G	probably benign	Het
Pbx4	C	T	8: 69,864,969	T201M	probably damaging	Het
Plekhg3	T	C	12: 76,576,914	I976T	probably damaging	Het
Pold1	G	A	7: 44,541,329	R304C	probably damaging	Het
Prss38	T	C	11: 59,372,945	T314A	probably benign	Het
Psph	T	C	5: 129,769,386		probably null	Het
Ptprj	G	A	2: 90,440,643	P1247L	probably damaging	Het
Rab3gap1	A	G	1: 127,934,436	E648G	probably damaging	Het
Ralgds	A	G	2: 28,545,416	E465G	probably damaging	Het
Rfng	T	C	11: 120,783,964	T67A	probably damaging	Het
Rnf219	C	T	14: 104,510,383	D43N	probably damaging	Het
Rps6kl1	G	T	12: 85,140,387	F181L	probably benign	Het
Spata46	G	A	1: 170,311,886	M151I	possibly damaging	Het
Ssbp1	T	A	6: 40,477,980	N124K	probably damaging	Het
Sspo	C	T	6: 48,478,396	A3064V	possibly damaging	Het
Tbc1d8	G	A	1: 39,402,878	T211I	possibly damaging	Het
Tdpoz4	T	C	3: 93,797,089	I231T	probably damaging	Het
Tff3	G	A	17: 31,127,509	P30S	probably benign	Het
Thg1l	C	T	11: 45,954,191	R18Q	probably damaging	Het
Tlk2	T	A	11: 105,256,882	H369Q	probably benign	Het
Tnfaip8	A	G	18: 50,090,502	T14A	probably damaging	Het
Tspan17	T	A	13: 54,795,064	C116*	probably null	Het
Ttn	T	C	2: 76,880,546		probably benign	Het
Tyr	T	C	7: 87,492,647	Y158C	probably null	Het
U2af1l4	G	T	7: 30,563,348		probably benign	Het
Ubqlnl	C	T	7: 104,149,718	V191M	probably benign	Het
Vmn2r86	T	A	10: 130,447,070	D559V	probably damaging	Het
Wfikkn2	T	A	11: 94,239,076	T80S	probably benign	Het
Zdhhc2	T	A	8: 40,464,142		probably null	Het
Zfp521	T	C	18: 13,844,054	K1101E	possibly damaging	Het
Zfp595	A	T	13: 67,317,165	F345I	probably benign	Het
Zswim2	T	A	2: 83,915,395	R566S	probably benign	Het

Other mutations in Pcdhb9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Pcdhb9	APN	18	37403279	missense	possibly damaging	0.59
IGL01557:Pcdhb9	APN	18	37403047	missense	probably damaging	1.00
IGL01716:Pcdhb9	APN	18	37403175	missense	probably damaging	0.99
IGL01954:Pcdhb9	APN	18	37401741	missense	probably damaging	1.00
IGL02063:Pcdhb9	APN	18	37401757	missense	probably benign	0.21
IGL03057:Pcdhb9	APN	18	37401277	missense	probably benign	0.00
R0140:Pcdhb9	UTSW	18	37402961	missense	possibly damaging	0.89
R0180:Pcdhb9	UTSW	18	37402254	missense	probably damaging	1.00
R0349:Pcdhb9	UTSW	18	37402579	missense	probably damaging	0.99
R0616:Pcdhb9	UTSW	18	37401975	nonsense	probably null
R0669:Pcdhb9	UTSW	18	37402255	missense	probably damaging	1.00
R1256:Pcdhb9	UTSW	18	37403116	missense	possibly damaging	0.94
R1642:Pcdhb9	UTSW	18	37400934	intron	probably benign
R1678:Pcdhb9	UTSW	18	37401629	missense	probably damaging	1.00
R1711:Pcdhb9	UTSW	18	37403327	nonsense	probably null
R1762:Pcdhb9	UTSW	18	37403083	missense	probably benign	0.00
R1823:Pcdhb9	UTSW	18	37402818	missense	probably benign	0.14
R1868:Pcdhb9	UTSW	18	37402084	missense	probably damaging	1.00
R1959:Pcdhb9	UTSW	18	37403316	missense	probably damaging	1.00
R2446:Pcdhb9	UTSW	18	37403287	missense	probably damaging	0.99
R2889:Pcdhb9	UTSW	18	37403223	missense	probably benign	0.06
R2890:Pcdhb9	UTSW	18	37403326	missense	probably benign	0.23
R3196:Pcdhb9	UTSW	18	37401610	missense	probably benign	0.02
R3725:Pcdhb9	UTSW	18	37401601	missense	possibly damaging	0.95
R3726:Pcdhb9	UTSW	18	37401601	missense	possibly damaging	0.95
R4179:Pcdhb9	UTSW	18	37401115	missense	probably benign	0.17
R4326:Pcdhb9	UTSW	18	37401822	missense	probably benign	0.04
R4326:Pcdhb9	UTSW	18	37401823	missense	probably benign	0.15
R4327:Pcdhb9	UTSW	18	37401822	missense	probably benign	0.04
R4327:Pcdhb9	UTSW	18	37401823	missense	probably benign	0.15
R4329:Pcdhb9	UTSW	18	37401822	missense	probably benign	0.04
R4329:Pcdhb9	UTSW	18	37401823	missense	probably benign	0.15
R4626:Pcdhb9	UTSW	18	37402249	missense	probably benign	0.01
R4888:Pcdhb9	UTSW	18	37403233	missense	probably benign	0.22
R5140:Pcdhb9	UTSW	18	37401133	missense	probably benign	0.00
R5186:Pcdhb9	UTSW	18	37401232	missense	probably damaging	1.00
R5502:Pcdhb9	UTSW	18	37401603	missense	possibly damaging	0.95
R5586:Pcdhb9	UTSW	18	37401114	missense	probably benign
R5601:Pcdhb9	UTSW	18	37402206	missense	probably damaging	1.00
R5624:Pcdhb9	UTSW	18	37401406	missense	probably benign
R5827:Pcdhb9	UTSW	18	37401958	missense	possibly damaging	0.72
R5829:Pcdhb9	UTSW	18	37401889	missense	probably damaging	0.97
R5837:Pcdhb9	UTSW	18	37402798	missense	probably damaging	1.00
R6147:Pcdhb9	UTSW	18	37402441	missense	possibly damaging	0.95
R6228:Pcdhb9	UTSW	18	37402062	missense	probably benign	0.00
R6245:Pcdhb9	UTSW	18	37403154	missense	probably damaging	1.00
R6304:Pcdhb9	UTSW	18	37401367	missense	probably damaging	0.99
R6542:Pcdhb9	UTSW	18	37401589	missense	probably damaging	0.99
R6904:Pcdhb9	UTSW	18	37401917	missense	probably benign	0.01
R7058:Pcdhb9	UTSW	18	37403281	missense	probably benign	0.35
R7159:Pcdhb9	UTSW	18	37401492	missense	possibly damaging	0.89
R7258:Pcdhb9	UTSW	18	37402114	missense	probably damaging	1.00
R7800:Pcdhb9	UTSW	18	37401549	missense	probably benign	0.01
R8027:Pcdhb9	UTSW	18	37403016	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- TGGTGAACACTTTCCTGGC -3'
(R):5'- TACTTGAGCTACTTGTAGTCGTGAG -3'

Sequencing Primer
(F):5'- CCACCTGGTCGATGTCAGTG -3'
(R):5'- TTCACCAAAGACACTGAACATGTAG -3'

Posted On

2015-11-11