Mutagenetix > Incidental Mutation

Incidental Mutation 'R7664:Vmn1r196'

591813

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r196

Ensembl Gene

ENSMUSG00000069295

Gene Name

vomeronasal 1 receptor 196

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7664 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22289920-22298360 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22293762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 190 (D190E)

Ref Sequence

ENSEMBL: ENSMUSP00000089329 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091735] [ENSMUST00000226245] [ENSMUST00000227516] [ENSMUST00000228382] [ENSMUST00000228557]

AlphaFold

Q5SVD5

Predicted Effect

probably damaging
Transcript: ENSMUST00000091735
AA Change: D190E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000089329
Gene: ENSMUSG00000069295
AA Change: D190E

Domain	Start	End	E-Value	Type
Pfam:V1R	35	297	3.9e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000226245
AA Change: D113E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000227516
AA Change: D5E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228382
AA Change: D190E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228557
AA Change: D190E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430078G23Rik	A	T	8: 3,386,390	E228V	probably damaging	Het
Acaca	C	T	11: 84,245,349	T510I	probably damaging	Het
Akap12	G	T	10: 4,353,748	W291L	probably damaging	Het
Akip1	A	T	7: 109,708,980	I152F	probably benign	Het
Alpk2	T	A	18: 65,307,002	Y440F	probably benign	Het
Aox3	A	G	1: 58,119,539	T90A	probably damaging	Het
B4galnt4	A	G	7: 141,067,713	K405E	probably damaging	Het
BC034090	T	C	1: 155,241,631	E247G	probably damaging	Het
Camkk2	A	T	5: 122,756,582	F216I	unknown	Het
Carm1	A	C	9: 21,586,990	K430T	probably benign	Het
Ccdc13	A	G	9: 121,814,213	V374A	probably benign	Het
Cdh26	T	A	2: 178,470,042	M465K	probably benign	Het
Ceacam10	A	T	7: 24,778,332	M91L	probably benign	Het
Chrnb1	T	C	11: 69,787,024	T301A	possibly damaging	Het
Clec4a3	A	G	6: 122,966,422	D101G	probably benign	Het
Cmss1	G	A	16: 57,317,947	P59S	probably benign	Het
Crhr1	T	A	11: 104,169,142	F138L	probably benign	Het
Cxcl5	A	T	5: 90,760,031	I107F	probably damaging	Het
Cxcr1	A	G	1: 74,192,675	S63P	probably damaging	Het
Cxcr5	A	G	9: 44,513,310	L350P	probably benign	Het
D5Ertd579e	A	T	5: 36,614,617	H811Q	probably benign	Het
Ddx46	T	G	13: 55,659,051	I499S	probably damaging	Het
Ddx51	T	G	5: 110,656,919		probably null	Het
Dnaja1	C	T	4: 40,724,090	P84S	probably benign	Het
Dnajc27	A	G	12: 4,103,132	K203E	possibly damaging	Het
Fam107b	T	A	2: 3,570,710	C24S	probably damaging	Het
Fancg	T	C	4: 43,010,066	K11R	probably benign	Het
Fnip1	T	C	11: 54,466,125	L44P	probably damaging	Het
Fthl17b	C	T	X: 8,962,804	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,962,808	V8M	possibly damaging	Het
Heca	A	T	10: 17,902,370	L493Q	probably damaging	Het
Hrh2	C	T	13: 54,214,856	P284S	probably damaging	Het
Ifnar1	C	G	16: 91,495,194	A141G	probably damaging	Het
Igkv6-32	T	A	6: 70,074,298	T25S	probably damaging	Het
Inppl1	T	C	7: 101,830,097	H525R	probably damaging	Het
Itga2b	A	G	11: 102,460,840	L553P	probably damaging	Het
Itgbl1	A	G	14: 123,846,550	Y280C	probably damaging	Het
Kap	T	C	6: 133,851,957	I54V	probably benign	Het
Kcnh4	G	T	11: 100,750,322	L434M	probably damaging	Het
Klhl14	T	C	18: 21,554,649	D572G	probably damaging	Het
Klhl41	T	A	2: 69,670,717	L174Q	probably damaging	Het
Lrp2	T	G	2: 69,506,732	H1232P	probably damaging	Het
Lyar	A	G	5: 38,230,817	E229G	probably benign	Het
Mark4	A	T	7: 19,443,226	L226Q	probably damaging	Het
Mcm8	A	G	2: 132,843,533	K823R	probably damaging	Het
Mfsd6	A	T	1: 52,709,053	S218T	probably benign	Het
Mlip	A	T	9: 77,138,546	I884N	possibly damaging	Het
Mmrn1	A	G	6: 60,976,705	T657A	probably benign	Het
Morc2b	A	G	17: 33,136,402	Y799H	probably benign	Het
Muc16	A	T	9: 18,607,722	I6304N	probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Naaladl2	T	C	3: 24,058,139	Y593C	probably damaging	Het
Ncor1	T	C	11: 62,398,328	E341G	probably damaging	Het
Nrg1	G	T	8: 32,009,141		probably null	Het
Nudt3	A	G	17: 27,623,175	L4P	probably benign	Het
Odf2l	T	A	3: 145,148,584	H493Q	probably benign	Het
Ost4	A	C	5: 30,907,663		probably null	Het
Patj	A	T	4: 98,496,950	Q840L	possibly damaging	Het
Pcdh20	T	A	14: 88,469,367	T166S	probably benign	Het
Pcdhb4	T	A	18: 37,309,240	D534E	probably damaging	Het
Pik3ap1	T	C	19: 41,321,630	D417G	possibly damaging	Het
Ppwd1	A	T	13: 104,220,290	V239E	probably damaging	Het
Prdm9	T	A	17: 15,555,571	Y206F	probably damaging	Het
Ranbp6	A	G	19: 29,812,076	V292A	possibly damaging	Het
Rgs21	T	A	1: 144,541,249	M22L	probably benign	Het
Rnf17	A	T	14: 56,438,878	I399F	probably damaging	Het
Rph3a	T	A	5: 120,961,276	Q184L	probably benign	Het
Scrn3	T	C	2: 73,319,370	Y137H	possibly damaging	Het
Sec14l4	C	A	11: 4,044,178	Y342*	probably null	Het
Serpinb11	G	A	1: 107,379,988	G383D	probably damaging	Het
Sf3b1	A	G	1: 54,987,467	V1261A	probably damaging	Het
Sh3tc2	C	T	18: 62,014,971	Q1251*	probably null	Het
Skor1	A	T	9: 63,141,763	D845E	probably benign	Het
Slc39a7	A	G	17: 34,029,577	L364P	probably damaging	Het
Snrpn	T	C	7: 59,987,491	I26V	probably benign	Het
Snx5	A	T	2: 144,258,004		probably null	Het
Spag9	T	C	11: 94,102,160		probably null	Het
Srrm2	T	C	17: 23,820,981	S2200P	probably damaging	Het
Stx11	T	C	10: 12,941,326	E218G	probably damaging	Het
Tmem151b	T	C	17: 45,545,935	N193S	probably damaging	Het
Tmem87b	A	T	2: 128,849,054	D525V	possibly damaging	Het
Ubtfl1	A	T	9: 18,409,486	R103S	possibly damaging	Het
Vmn2r67	T	A	7: 85,155,811	D31V	probably benign	Het
Zbtb22	T	A	17: 33,918,579	M566K	probably benign	Het
Zfp568	A	T	7: 30,022,290	H220L	probably benign	Het
Zfp974	A	T	7: 27,910,712	S529R	possibly damaging	Het

Other mutations in Vmn1r196

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01941:Vmn1r196	APN	13	22293699	nonsense	probably null
R0415:Vmn1r196	UTSW	13	22293836	missense	probably damaging	1.00
R0502:Vmn1r196	UTSW	13	22293387	missense	probably benign	0.01
R0503:Vmn1r196	UTSW	13	22293387	missense	probably benign	0.01
R2306:Vmn1r196	UTSW	13	22293303	missense	probably benign	0.08
R4463:Vmn1r196	UTSW	13	22293683	missense	probably benign
R6335:Vmn1r196	UTSW	13	22293717	missense	probably benign	0.18
R8062:Vmn1r196	UTSW	13	22293270	missense	probably damaging	1.00
R9017:Vmn1r196	UTSW	13	22294084	missense	probably benign	0.00
R9434:Vmn1r196	UTSW	13	22293620	nonsense	probably null
R9583:Vmn1r196	UTSW	13	22293750	missense	probably damaging	0.96
S24628:Vmn1r196	UTSW	13	22293836	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCTAAATGGCATGTGCTTCTC -3'
(R):5'- GAACTGCATAACCAATGGTCAG -3'

Sequencing Primer
(F):5'- AAATGGCATGTGCTTCTCTCTCTG -3'
(R):5'- CTGCATAACCAATGGTCAGAAATTC -3'

Posted On

2019-11-12