Mutagenetix > Incidental Mutation

Incidental Mutation 'R1199:Vmn1r189'

101235

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r189

Ensembl Gene

ENSMUSG00000099611

Gene Name

vomeronasal 1 receptor 189

Synonyms

V1rh2

MMRRC Submission

039269-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.344) question?

Stock #

R1199 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22285897-22286835 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22286828 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 3 (L3Q)

Ref Sequence

ENSEMBL: ENSMUSP00000154722 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000186062] [ENSMUST00000227357] [ENSMUST00000228428]

AlphaFold

Q8K3N3

Predicted Effect

probably damaging
Transcript: ENSMUST00000075055
AA Change: L3Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000074566
Gene: ENSMUSG00000061222
AA Change: L3Q

Domain	Start	End	E-Value	Type
Pfam:V1R	33	297	7.9e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000186062
AA Change: L3Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140924
Gene: ENSMUSG00000099611
AA Change: L3Q

Domain	Start	End	E-Value	Type
Pfam:7tm_1	30	283	1e-7	PFAM
Pfam:V1R	33	297	7.9e-35	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227357
AA Change: L3Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000228428
AA Change: L3Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	T	9: 108,270,676 (GRCm39)	H80L	possibly damaging	Het
A1bg	A	T	15: 60,791,484 (GRCm39)		probably null	Het
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
Agrn	T	A	4: 156,256,756 (GRCm39)	Y1283F	probably benign	Het
Akap6	T	C	12: 52,842,973 (GRCm39)	V107A	probably damaging	Het
Amph	G	A	13: 19,326,198 (GRCm39)	V643M	probably damaging	Het
Btnl9	A	T	11: 49,071,574 (GRCm39)	V83E	probably damaging	Het
Camk2a	T	A	18: 61,085,396 (GRCm39)	C131*	probably null	Het
Ccdc14	C	T	16: 34,544,198 (GRCm39)	T852M	probably damaging	Het
Cntn4	T	C	6: 106,330,558 (GRCm39)		probably benign	Het
Cp	T	G	3: 20,031,316 (GRCm39)	S585R	probably damaging	Het
Cpt1b	G	A	15: 89,303,213 (GRCm39)	A614V	probably benign	Het
Crygn	T	C	5: 24,956,146 (GRCm39)	Y153C	probably damaging	Het
Dennd1a	A	T	2: 37,851,728 (GRCm39)	D53E	probably damaging	Het
Deptor	T	C	15: 55,115,406 (GRCm39)	C357R	probably benign	Het
Dnajc28	C	A	16: 91,415,530 (GRCm39)		probably benign	Het
Eml6	G	A	11: 29,705,044 (GRCm39)	A1500V	possibly damaging	Het
Fgd5	T	A	6: 91,963,959 (GRCm39)	L64Q	possibly damaging	Het
Fgfbp1	A	G	5: 44,136,939 (GRCm39)	Y118H	probably damaging	Het
Ftcd	G	A	10: 76,415,653 (GRCm39)	R135H	probably damaging	Het
Gm5174	A	T	10: 86,493,189 (GRCm39)		noncoding transcript	Het
Gpr37l1	A	T	1: 135,094,710 (GRCm39)	L178Q	probably damaging	Het
Gtf2ird1	A	G	5: 134,439,918 (GRCm39)	V104A	possibly damaging	Het
Irs1	T	A	1: 82,267,347 (GRCm39)	S290C	probably damaging	Het
Kel	C	T	6: 41,665,525 (GRCm39)	V532I	possibly damaging	Het
Kif1c	A	G	11: 70,599,427 (GRCm39)	E442G	possibly damaging	Het
Klhdc10	T	A	6: 30,449,493 (GRCm39)	V185D	probably damaging	Het
Lpp	C	T	16: 24,500,610 (GRCm39)	R141C	probably damaging	Het
Or52a5	A	T	7: 103,427,192 (GRCm39)	M120K	probably damaging	Het
Or5m13	A	G	2: 85,748,379 (GRCm39)	I37V	probably benign	Het
Pcnx2	G	T	8: 126,614,053 (GRCm39)	P466H	possibly damaging	Het
Pcsk1	A	T	13: 75,244,532 (GRCm39)		probably benign	Het
Pkd2l2	T	C	18: 34,571,269 (GRCm39)		probably null	Het
Pomt1	A	G	2: 32,140,504 (GRCm39)	N454S	probably benign	Het
Samhd1	A	T	2: 156,951,381 (GRCm39)	I452N	probably damaging	Het
Sez6	A	G	11: 77,844,711 (GRCm39)	Q178R	probably benign	Het
Slc25a44	A	G	3: 88,328,293 (GRCm39)	V66A	probably damaging	Het
Slc46a2	T	C	4: 59,914,189 (GRCm39)	T245A	probably benign	Het
Slc4a4	G	A	5: 89,363,653 (GRCm39)		probably null	Het
Spata6	T	A	4: 111,656,342 (GRCm39)	C329S	possibly damaging	Het
Srrm2	A	T	17: 24,036,725 (GRCm39)		probably benign	Het
Stard9	C	A	2: 120,504,117 (GRCm39)	S221R	probably damaging	Het
Svil	T	A	18: 5,059,217 (GRCm39)		probably benign	Het
Tenm3	G	T	8: 48,688,617 (GRCm39)	S2323R	probably damaging	Het
Tsc1	G	A	2: 28,555,638 (GRCm39)	R245Q	probably damaging	Het
Ttn	A	G	2: 76,739,100 (GRCm39)	V3813A	probably benign	Het
Ttn	G	A	2: 76,780,388 (GRCm39)	T1121M	possibly damaging	Het
Ush2a	G	A	1: 188,491,992 (GRCm39)	V3094I	probably benign	Het
Vcan	A	G	13: 89,827,913 (GRCm39)		probably null	Het
Vmn1r60	A	C	7: 5,547,971 (GRCm39)	V43G	probably damaging	Het
Vmn2r110	A	G	17: 20,803,525 (GRCm39)	I350T	probably benign	Het
Vmn2r86	T	A	10: 130,284,443 (GRCm39)		probably benign	Het
Xrn1	A	G	9: 95,863,814 (GRCm39)		probably benign	Het
Zfp251	C	T	15: 76,738,436 (GRCm39)	R219Q	possibly damaging	Het

Other mutations in Vmn1r189

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03084:Vmn1r189	APN	13	22,286,008 (GRCm39)	nonsense	probably null
R0437:Vmn1r189	UTSW	13	22,286,231 (GRCm39)	missense	probably damaging	0.99
R1795:Vmn1r189	UTSW	13	22,286,324 (GRCm39)	missense	probably benign	0.03
R2251:Vmn1r189	UTSW	13	22,286,718 (GRCm39)	missense	probably damaging	1.00
R3751:Vmn1r189	UTSW	13	22,286,382 (GRCm39)	missense	probably benign	0.00
R3824:Vmn1r189	UTSW	13	22,286,382 (GRCm39)	missense	probably benign	0.02
R3825:Vmn1r189	UTSW	13	22,286,382 (GRCm39)	missense	probably benign	0.02
R3856:Vmn1r189	UTSW	13	22,286,439 (GRCm39)	missense	possibly damaging	0.56
R4688:Vmn1r189	UTSW	13	22,286,289 (GRCm39)	missense	probably damaging	0.99
R5665:Vmn1r189	UTSW	13	22,286,336 (GRCm39)	missense	probably damaging	1.00
R5778:Vmn1r189	UTSW	13	22,286,552 (GRCm39)	missense	probably damaging	0.99
R6149:Vmn1r189	UTSW	13	22,286,054 (GRCm39)	missense	probably benign	0.33
R6431:Vmn1r189	UTSW	13	22,286,525 (GRCm39)	missense	probably damaging	0.98
R6660:Vmn1r189	UTSW	13	22,286,066 (GRCm39)	missense	possibly damaging	0.89
R6974:Vmn1r189	UTSW	13	22,286,628 (GRCm39)	missense	probably damaging	1.00
R7051:Vmn1r189	UTSW	13	22,286,285 (GRCm39)	missense	possibly damaging	0.58
R7269:Vmn1r189	UTSW	13	22,286,737 (GRCm39)	missense	probably benign	0.00
R7330:Vmn1r189	UTSW	13	22,286,711 (GRCm39)	missense	possibly damaging	0.95
R7611:Vmn1r189	UTSW	13	22,286,322 (GRCm39)	missense	probably benign	0.02
R7894:Vmn1r189	UTSW	13	22,285,906 (GRCm39)	nonsense	probably null
R8214:Vmn1r189	UTSW	13	22,286,301 (GRCm39)	missense	probably benign	0.01
R8925:Vmn1r189	UTSW	13	22,286,811 (GRCm39)	missense	probably benign	0.01
R8927:Vmn1r189	UTSW	13	22,286,811 (GRCm39)	missense	probably benign	0.01
R9329:Vmn1r189	UTSW	13	22,286,430 (GRCm39)	missense	probably benign	0.03
R9562:Vmn1r189	UTSW	13	22,286,426 (GRCm39)	missense	probably damaging	1.00
R9565:Vmn1r189	UTSW	13	22,286,426 (GRCm39)	missense	probably damaging	1.00
Z1177:Vmn1r189	UTSW	13	22,286,053 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTGATGATGATGGCCTGGACCAC -3'
(R):5'- GAATACCAGTTACCAACCTCGCCTG -3'

Sequencing Primer
(F):5'- TTACAGCCTATGTCATCCAGGAAG -3'
(R):5'- ATGTGCTGCTCAGATCCATG -3'

Posted On

2014-01-15