Mutagenetix > Incidental Mutation

Incidental Mutation 'R0620:Vmn1r184'

58600

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r184

Ensembl Gene

ENSMUSG00000046130

Gene Name

vomeronasal 1 receptor, 184

Synonyms

MMRRC Submission

038809-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R0620 (G1)

Quality Score

218

Status

Validated

Chromosome

Chromosomal Location

25966256-25967200 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25966602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Histidine at position 116 (P116H)

Ref Sequence

ENSEMBL: ENSMUSP00000154576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057123] [ENSMUST00000227230] [ENSMUST00000227232] [ENSMUST00000227534] [ENSMUST00000227790] [ENSMUST00000228145] [ENSMUST00000228369]

AlphaFold

E9Q2N4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057123
AA Change: P116H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061885
Gene: ENSMUSG00000046130
AA Change: P116H

Domain	Start	End	E-Value	Type
Pfam:TAS2R	8	308	1.7e-7	PFAM
Pfam:V1R	35	297	7.5e-31	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227230
AA Change: P116H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227232
AA Change: P116H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227534
AA Change: P116H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227790
AA Change: P116H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228145
AA Change: P116H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228369
AA Change: P116H

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 99.0%
10x: 97.8%
20x: 96.1%

Validation Efficiency

100% (74/74)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,835,094 (GRCm39)	T679A	possibly damaging	Het
Ahr	T	C	12: 35,558,193 (GRCm39)	T276A	probably benign	Het
Akap9	A	T	5: 4,114,136 (GRCm39)	Q3138H	probably damaging	Het
Armt1	T	A	10: 4,382,689 (GRCm39)	F7I	probably benign	Het
B3galt2	A	G	1: 143,521,878 (GRCm39)	R5G	probably damaging	Het
Bod1l	T	C	5: 41,958,576 (GRCm39)	N2750S	probably benign	Het
Cadps2	T	A	6: 23,583,395 (GRCm39)	E365V	probably damaging	Het
Cd200r3	T	A	16: 44,778,080 (GRCm39)		probably null	Het
Cemip2	T	A	19: 21,795,335 (GRCm39)	S743T	probably benign	Het
Cst7	T	A	2: 150,417,806 (GRCm39)		probably benign	Het
Defb30	A	T	14: 63,287,212 (GRCm39)		probably benign	Het
Dido1	C	T	2: 180,301,644 (GRCm39)	G2087S	probably benign	Het
Dio2	A	G	12: 90,704,845 (GRCm39)	Y72H	probably benign	Het
Dnah11	C	T	12: 117,951,204 (GRCm39)	E3035K	probably damaging	Het
Dnajb13	T	C	7: 100,152,456 (GRCm39)	K287E	possibly damaging	Het
Dnajc11	G	A	4: 152,058,085 (GRCm39)	V244I	possibly damaging	Het
Ect2	C	T	3: 27,193,801 (GRCm39)	A226T	probably damaging	Het
Ercc8	G	A	13: 108,310,595 (GRCm39)		probably null	Het
Fam120b	T	A	17: 15,623,189 (GRCm39)	M389K	probably benign	Het
Fam151a	A	G	4: 106,605,128 (GRCm39)	M497V	probably benign	Het
Fam186b	C	A	15: 99,178,009 (GRCm39)	G439V	probably benign	Het
Fank1	A	G	7: 133,478,494 (GRCm39)	Y185C	probably damaging	Het
Gart	T	C	16: 91,427,490 (GRCm39)		probably benign	Het
Glb1l	T	C	1: 75,176,364 (GRCm39)	Y572C	probably damaging	Het
Gm11563	C	T	11: 99,549,263 (GRCm39)	A164T	unknown	Het
Gnb4	C	T	3: 32,645,356 (GRCm39)	V112I	probably benign	Het
Gsdmc3	T	A	15: 63,731,542 (GRCm39)	D330V	probably damaging	Het
H2-DMa	C	T	17: 34,356,934 (GRCm39)	T144M	probably damaging	Het
Haus6	A	T	4: 86,501,751 (GRCm39)	F707I	possibly damaging	Het
Hmcn1	T	A	1: 150,469,767 (GRCm39)	T4971S	probably benign	Het
Ints6	A	T	14: 62,934,208 (GRCm39)	F766L	probably benign	Het
Kdm5d	T	A	Y: 927,330 (GRCm39)	M650K	probably damaging	Het
Kif21b	T	C	1: 136,087,166 (GRCm39)	F881S	possibly damaging	Het
Klrk1	C	A	6: 129,591,598 (GRCm39)	Q176H	possibly damaging	Het
Ky	T	C	9: 102,414,820 (GRCm39)	V244A	probably benign	Het
Mia2	T	A	12: 59,201,205 (GRCm39)	L191M	possibly damaging	Het
Miga2	T	A	2: 30,271,756 (GRCm39)		probably benign	Het
Mtss2	C	T	8: 111,464,580 (GRCm39)	P322S	probably damaging	Het
Nalcn	A	G	14: 123,536,553 (GRCm39)		probably benign	Het
Ncbp3	T	A	11: 72,940,671 (GRCm39)		probably benign	Het
Nprl3	G	A	11: 32,184,876 (GRCm39)	L378F	probably damaging	Het
Ntrk2	A	T	13: 58,994,635 (GRCm39)	M184L	probably benign	Het
Or11g1	G	T	14: 50,651,154 (GRCm39)	C51F	probably benign	Het
Or9e1	T	G	11: 58,732,269 (GRCm39)	C110G	probably damaging	Het
Osbpl9	T	C	4: 108,940,325 (GRCm39)	E287G	probably damaging	Het
Parva	T	C	7: 112,175,618 (GRCm39)	F250L	probably damaging	Het
Pcdhb11	C	T	18: 37,554,864 (GRCm39)	Q65*	probably null	Het
Phtf1	A	G	3: 103,901,081 (GRCm39)	T377A	probably damaging	Het
Pkp4	G	A	2: 59,152,987 (GRCm39)	V612I	possibly damaging	Het
Plscr2	C	A	9: 92,169,707 (GRCm39)	S52R	probably benign	Het
Pnisr	C	T	4: 21,874,092 (GRCm39)		probably benign	Het
Pole2	A	C	12: 69,256,653 (GRCm39)	S291A	probably damaging	Het
Ppp2r5d	A	G	17: 46,994,944 (GRCm39)	F586L	probably benign	Het
Prrx1	G	A	1: 163,085,385 (GRCm39)	R182C	probably damaging	Het
Ptprs	A	G	17: 56,736,103 (GRCm39)	I110T	possibly damaging	Het
Rasgrf2	G	A	13: 92,067,936 (GRCm39)		probably benign	Het
Resf1	A	T	6: 149,229,873 (GRCm39)	Q973L	probably damaging	Het
Riox2	T	C	16: 59,312,255 (GRCm39)	V464A	probably benign	Het
Robo2	A	G	16: 73,764,690 (GRCm39)	V646A	possibly damaging	Het
Ros1	T	A	10: 51,994,444 (GRCm39)	I1279F	probably damaging	Het
Siglec1	G	A	2: 130,916,188 (GRCm39)	T1254M	probably benign	Het
Snx7	T	C	3: 117,640,324 (GRCm39)	N62D	probably damaging	Het
Sp100	G	A	1: 85,587,588 (GRCm39)		probably null	Het
Stil	A	T	4: 114,864,356 (GRCm39)	I86L	possibly damaging	Het
Tbc1d16	T	A	11: 119,099,864 (GRCm39)	D170V	probably benign	Het
Trappc13	G	A	13: 104,297,589 (GRCm39)	T105M	probably damaging	Het
Trhr	T	A	15: 44,092,896 (GRCm39)	S378T	probably benign	Het
Ttc7b	T	C	12: 100,466,332 (GRCm39)		probably null	Het
Vegfc	A	T	8: 54,610,174 (GRCm39)	Y110F	probably benign	Het
Vmn2r5	A	T	3: 64,411,235 (GRCm39)	C444*	probably null	Het
Zfp341	A	G	2: 154,476,193 (GRCm39)	E460G	possibly damaging	Het
Zfp819	T	A	7: 43,265,868 (GRCm39)	V41E	probably benign	Het

Other mutations in Vmn1r184

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:Vmn1r184	APN	7	25,966,862 (GRCm39)	missense	probably damaging	1.00
IGL01411:Vmn1r184	APN	7	25,966,320 (GRCm39)	missense	probably benign	0.06
IGL02961:Vmn1r184	APN	7	25,967,075 (GRCm39)	missense	probably benign	0.27
IGL03271:Vmn1r184	APN	7	25,967,034 (GRCm39)	missense	probably benign
R0302:Vmn1r184	UTSW	7	25,966,968 (GRCm39)	missense	probably damaging	1.00
R0384:Vmn1r184	UTSW	7	25,967,076 (GRCm39)	missense	probably benign	0.41
R0591:Vmn1r184	UTSW	7	25,966,500 (GRCm39)	missense	probably damaging	0.98
R1644:Vmn1r184	UTSW	7	25,966,670 (GRCm39)	missense	probably benign	0.00
R2304:Vmn1r184	UTSW	7	25,966,550 (GRCm39)	missense	probably damaging	1.00
R2329:Vmn1r184	UTSW	7	25,966,387 (GRCm39)	missense	probably damaging	1.00
R3522:Vmn1r184	UTSW	7	25,967,008 (GRCm39)	nonsense	probably null
R5020:Vmn1r184	UTSW	7	25,966,955 (GRCm39)	missense	possibly damaging	0.87
R5030:Vmn1r184	UTSW	7	25,966,881 (GRCm39)	missense	probably benign	0.25
R5049:Vmn1r184	UTSW	7	25,966,793 (GRCm39)	missense	possibly damaging	0.49
R5076:Vmn1r184	UTSW	7	25,966,346 (GRCm39)	missense	probably benign	0.00
R5213:Vmn1r184	UTSW	7	25,967,136 (GRCm39)	missense	probably damaging	0.99
R5554:Vmn1r184	UTSW	7	25,966,413 (GRCm39)	missense	probably damaging	1.00
R6146:Vmn1r184	UTSW	7	25,966,817 (GRCm39)	missense	probably benign	0.08
R6868:Vmn1r184	UTSW	7	25,966,727 (GRCm39)	missense	probably benign	0.00
R6937:Vmn1r184	UTSW	7	25,966,750 (GRCm39)	missense	probably benign	0.08
R6943:Vmn1r184	UTSW	7	25,966,563 (GRCm39)	missense	possibly damaging	0.77
R7190:Vmn1r184	UTSW	7	25,967,105 (GRCm39)	missense	probably damaging	1.00
R7239:Vmn1r184	UTSW	7	25,966,602 (GRCm39)	missense	possibly damaging	0.79
R7472:Vmn1r184	UTSW	7	25,966,824 (GRCm39)	missense	possibly damaging	0.82
R8258:Vmn1r184	UTSW	7	25,966,686 (GRCm39)	missense	probably benign	0.44
R8259:Vmn1r184	UTSW	7	25,966,686 (GRCm39)	missense	probably benign	0.44
R8911:Vmn1r184	UTSW	7	25,966,310 (GRCm39)	missense	possibly damaging	0.89
R9008:Vmn1r184	UTSW	7	25,967,177 (GRCm39)	missense	probably benign
R9159:Vmn1r184	UTSW	7	25,966,545 (GRCm39)	missense	possibly damaging	0.65
R9216:Vmn1r184	UTSW	7	25,966,703 (GRCm39)	missense	probably benign	0.00
R9548:Vmn1r184	UTSW	7	25,966,734 (GRCm39)	missense	probably benign	0.29
R9588:Vmn1r184	UTSW	7	25,966,347 (GRCm39)	missense	probably null	0.78
Z1177:Vmn1r184	UTSW	7	25,966,415 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCAGGAGTGCCCCACATAATAGGAC -3'
(R):5'- ATGGAGCCACTAGACCAGGCAATG -3'

Sequencing Primer
(F):5'- TGCCCCACATAATAGGACTTTGG -3'
(R):5'- TTCAGGGAACATTACGAATGCTG -3'

Posted On

2013-07-11