Mutagenetix > Incidental Mutations

Incidental Mutation 'R3824:Vmn1r189'

275300

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r189

Ensembl Gene

ENSMUSG00000099611

Gene Name

vomeronasal 1 receptor 189

Synonyms

V1rh2

MMRRC Submission

040885-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

R3824 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22099762-22105824 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22102212 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 152 (T152S)

Ref Sequence

ENSEMBL: ENSMUSP00000154722 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000075055
AA Change: T152S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000074566
Gene: ENSMUSG00000061222
AA Change: T152S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000186062
AA Change: T152S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000140924
Gene: ENSMUSG00000099611
AA Change: T152S

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 benign
Transcript: ENSMUST00000227357
AA Change: T152S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000228428
AA Change: T152S

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

95% (62/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	C	17: 35,567,611	C20R	probably benign	Het
6030468B19Rik	A	G	11: 117,802,913	K69E	probably damaging	Het
9430015G10Rik	T	A	4: 156,119,150		probably null	Het
A2ml1	A	G	6: 128,568,763	V467A	probably damaging	Het
Abcc3	T	C	11: 94,368,620		probably null	Het
Acad10	A	T	5: 121,622,818	M941K	probably benign	Het
Agrn	A	G	4: 156,169,302	L1649P	probably damaging	Het
Arhgap12	T	C	18: 6,061,930	R402G	possibly damaging	Het
Atp4b	T	C	8: 13,393,549	Y43C	probably damaging	Het
Btn2a2	T	A	13: 23,480,465	T308S	probably benign	Het
C8b	G	T	4: 104,783,009	A170S	probably benign	Het
Cabyr	T	A	18: 12,751,690	D411E	probably benign	Het
Capn3	T	C	2: 120,484,483		probably benign	Het
Cd200r4	T	C	16: 44,820,950	F19L	probably benign	Het
Cflar	T	A	1: 58,735,697	Y218N	probably benign	Het
Col11a2	T	C	17: 34,054,180	Y630H	probably damaging	Het
Coq6	T	C	12: 84,372,415		probably benign	Het
Drg2	A	G	11: 60,459,508	T98A	possibly damaging	Het
Fam205c	A	G	4: 42,873,492		probably null	Het
Fry	T	A	5: 150,496,419	S1015R	possibly damaging	Het
Gjb4	A	G	4: 127,351,429	S240P	probably benign	Het
Glmp	G	A	3: 88,326,411	V107I	probably damaging	Het
Gls	A	C	1: 52,232,988	M2R	possibly damaging	Het
Gm13078	A	T	4: 143,726,685	H121L	probably benign	Het
Gm5724	T	C	6: 141,754,374	Q144R	possibly damaging	Het
Gm906	G	A	13: 50,245,512	S926F	possibly damaging	Het
Igfbp4	A	G	11: 99,048,235	E27G	probably damaging	Het
Ints8	A	T	4: 11,225,621	Y645*	probably null	Het
Kat6a	G	T	8: 22,862,364	V55F	probably damaging	Het
Kat8	T	A	7: 127,924,482	D292E	possibly damaging	Het
Myo19	T	A	11: 84,885,679	C54S	probably damaging	Het
Myo5b	C	T	18: 74,661,655	H532Y	probably benign	Het
Nckap1	T	C	2: 80,540,560	K357E	possibly damaging	Het
Ndufaf1	C	T	2: 119,660,271	V105M	probably benign	Het
Olfr1076	T	G	2: 86,509,023	L188R	possibly damaging	Het
Olfr1394	A	G	11: 49,160,793	S260G	possibly damaging	Het
Olfr888	A	T	9: 38,108,838	I51F	possibly damaging	Het
Olfr895	T	G	9: 38,268,518	S2A	probably benign	Het
Olfr904	T	A	9: 38,464,526	C162S	probably benign	Het
Palld	T	C	8: 61,709,033	D439G	probably damaging	Het
Pcf11	T	C	7: 92,659,620		probably benign	Het
Pigo	A	T	4: 43,020,909	W678R	possibly damaging	Het
Pip5kl1	A	T	2: 32,583,271		probably null	Het
Plscr3	G	A	11: 69,850,138	V267M	probably benign	Het
Prom2	A	G	2: 127,535,673		probably benign	Het
Ptk7	A	G	17: 46,565,378	I1049T	probably damaging	Het
Ptprb	A	T	10: 116,350,789	I1743F	probably benign	Het
Ptprm	A	G	17: 66,809,575	V894A	probably benign	Het
Rack1	A	G	11: 48,802,304	T105A	probably benign	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Sdk1	A	G	5: 141,936,049	T267A	probably benign	Het
Sorcs3	T	A	19: 48,722,956	D653E	probably damaging	Het
St8sia1	A	G	6: 142,829,025	L276P	probably damaging	Het
Sync	T	C	4: 129,294,363	V396A	possibly damaging	Het
Taok3	A	G	5: 117,255,937	T592A	probably benign	Het
Tas2r104	T	A	6: 131,685,039	I236F	possibly damaging	Het
Tas2r107	A	C	6: 131,659,330	I252S	probably benign	Het
Tmem259	T	C	10: 79,978,448	N334S	possibly damaging	Het
Tsga10	A	T	1: 37,834,197	N200K	possibly damaging	Het
Usp24	G	A	4: 106,379,066	V984I	probably benign	Het
Vmn1r2	A	T	4: 3,172,413	T111S	probably damaging	Het
Vmn2r74	T	G	7: 85,958,258	N86H	probably damaging	Het
Zfp12	T	C	5: 143,240,322	V72A	probably benign	Het

Other mutations in Vmn1r189

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03084:Vmn1r189	APN	13	22101838	nonsense	probably null
R0437:Vmn1r189	UTSW	13	22102061	missense	probably damaging	0.99
R1199:Vmn1r189	UTSW	13	22102658	missense	probably damaging	0.99
R1795:Vmn1r189	UTSW	13	22102154	missense	probably benign	0.03
R2251:Vmn1r189	UTSW	13	22102548	missense	probably damaging	1.00
R3751:Vmn1r189	UTSW	13	22102212	missense	probably benign	0.00
R3825:Vmn1r189	UTSW	13	22102212	missense	probably benign	0.02
R3856:Vmn1r189	UTSW	13	22102269	missense	possibly damaging	0.56
R4688:Vmn1r189	UTSW	13	22102119	missense	probably damaging	0.99
R5665:Vmn1r189	UTSW	13	22102166	missense	probably damaging	1.00
R5778:Vmn1r189	UTSW	13	22102382	missense	probably damaging	0.99
R6149:Vmn1r189	UTSW	13	22101884	missense	probably benign	0.33
R6431:Vmn1r189	UTSW	13	22102355	missense	probably damaging	0.98
R6660:Vmn1r189	UTSW	13	22101896	missense	possibly damaging	0.89
R6974:Vmn1r189	UTSW	13	22102458	missense	probably damaging	1.00
R7051:Vmn1r189	UTSW	13	22102115	missense	possibly damaging	0.58
R7269:Vmn1r189	UTSW	13	22102567	missense	probably benign	0.00
R7330:Vmn1r189	UTSW	13	22102541	missense	possibly damaging	0.95
R7611:Vmn1r189	UTSW	13	22102152	missense	probably benign	0.02
R7894:Vmn1r189	UTSW	13	22101736	nonsense	probably null
R7977:Vmn1r189	UTSW	13	22101736	nonsense	probably null
Z1177:Vmn1r189	UTSW	13	22101883	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTTCTGAAGGTAGAGGACATGC -3'
(R):5'- TTACTTGACAAGGGTGGCCC -3'

Sequencing Primer
(F):5'- AGAGGACATGCTGGTGGTGC -3'
(R):5'- GGGCCTCTCCATCTGCAC -3'

Posted On

2015-04-02