Mutagenetix > Incidental Mutation

Incidental Mutation 'R0325:Vmn1r217'

25782

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r217

Ensembl Gene

ENSMUSG00000115791

Gene Name

vomeronasal 1 receptor 217

Synonyms

V1rh14

MMRRC Submission

038535-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.235) question?

Stock #

R0325 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23105100-23118226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23114594 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 46 (L46P)

Ref Sequence

ENSEMBL: ENSMUSP00000154563 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091721] [ENSMUST00000227110] [ENSMUST00000228656]

AlphaFold

Q8R270

Predicted Effect

probably damaging
Transcript: ENSMUST00000091721
AA Change: L46P

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

SMART Domains

Protein: ENSMUSP00000089314
Gene: ENSMUSG00000115791
AA Change: L46P

Domain	Start	End	E-Value	Type
transmembrane domain	9	31	N/A	INTRINSIC
Pfam:V1R	33	296	7.1e-37	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227110
AA Change: L46P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228656
AA Change: L46P

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	G	T	1: 26,685,266	Q278K	possibly damaging	Het
4933416C03Rik	T	C	10: 116,113,569	I17M	probably damaging	Het
5330417C22Rik	A	G	3: 108,461,251	L808P	probably damaging	Het
Adcyap1	A	G	17: 93,202,832	D96G	probably benign	Het
Adgrv1	C	T	13: 81,540,015	V1749M	probably damaging	Het
Adnp2	A	T	18: 80,130,653	N180K	probably benign	Het
Ahdc1	G	T	4: 133,062,719	A424S	unknown	Het
Alpk3	G	A	7: 81,067,953	R86H	possibly damaging	Het
Atf7ip	A	C	6: 136,560,989	T49P	possibly damaging	Het
Atp7b	G	A	8: 22,028,451	L124F	probably benign	Het
Bub1	A	T	2: 127,801,394	L1010*	probably null	Het
Cd300c	C	A	11: 114,959,585	E131*	probably null	Het
Cep135	A	G	5: 76,615,743	K527E	probably damaging	Het
Cfd	G	T	10: 79,891,758	E89*	probably null	Het
Crb1	A	C	1: 139,241,166	C871W	probably damaging	Het
D6Ertd527e	A	T	6: 87,111,295	S147C	unknown	Het
Ddx60	A	T	8: 61,983,855	E946D	probably benign	Het
Dmrt1	G	A	19: 25,546,007	E241K	probably benign	Het
Dnah11	C	G	12: 118,012,339	V2782L	probably benign	Het
Dzip1	T	C	14: 118,909,557	I313M	probably damaging	Het
Egln3	T	C	12: 54,203,512	E17G	probably benign	Het
Eif3d	A	G	15: 77,968,220	V42A	probably damaging	Het
Eogt	C	A	6: 97,113,955	G408W	probably damaging	Het
Fip1l1	T	A	5: 74,595,842	N498K	probably damaging	Het
Fmn2	T	A	1: 174,609,954		probably null	Het
Fndc3b	T	C	3: 27,467,430	E532G	probably damaging	Het
Gabrb3	T	C	7: 57,765,530	L116P	probably damaging	Het
Galnt6	A	T	15: 100,693,471		probably null	Het
Glmp	G	A	3: 88,325,084	M1I	probably null	Het
Gm13101	A	T	4: 143,966,740	V56E	probably damaging	Het
Gm13124	T	C	4: 144,555,511	Y237C	probably damaging	Het
Gm5478	T	C	15: 101,644,326	D79G	probably damaging	Het
Gnb1	T	G	4: 155,551,683	D153E	probably benign	Het
Grik2	T	C	10: 49,240,725	I86V	probably damaging	Het
Hdac3	C	T	18: 37,940,952		probably null	Het
Hdgfl2	G	A	17: 56,099,181	R523H	possibly damaging	Het
Ifngr1	T	A	10: 19,597,432	N43K	probably damaging	Het
Iqgap1	A	G	7: 80,751,930	W476R	probably benign	Het
Jag1	A	G	2: 137,095,445		probably null	Het
Kars	T	C	8: 112,008,216	D46G	probably benign	Het
Kcnd2	A	G	6: 21,216,683	I129V	probably damaging	Het
Lama3	A	C	18: 12,482,126	D1369A	probably damaging	Het
Lars	A	T	18: 42,250,902	V76E	possibly damaging	Het
Lgals9	T	C	11: 78,963,448	I337V	probably damaging	Het
Lrp1b	T	C	2: 40,851,711	D3068G	probably damaging	Het
Med12l	A	G	3: 59,077,059	T462A	possibly damaging	Het
Megf9	T	A	4: 70,455,941	D286V	probably damaging	Het
Meox1	T	A	11: 101,879,401	S167C	probably damaging	Het
Mier2	C	T	10: 79,542,596		probably null	Het
Mrps2	C	A	2: 28,469,779	T216K	probably damaging	Het
Mto1	A	T	9: 78,453,004	D258V	probably damaging	Het
Mug1	A	T	6: 121,849,842	H208L	probably benign	Het
Myo15b	T	A	11: 115,884,265	I751N	probably damaging	Het
Napg	C	T	18: 62,986,963	R149C	probably damaging	Het
Ndrg4	T	A	8: 95,710,935	M17K	probably damaging	Het
Nfrkb	T	G	9: 31,414,180	M973R	probably benign	Het
Nxph4	C	T	10: 127,526,911	R37H	probably damaging	Het
Oas1e	A	G	5: 120,795,395	I35T	probably damaging	Het
Oc90	C	T	15: 65,897,665		probably null	Het
Olfr1045	G	A	2: 86,198,711	L14F	possibly damaging	Het
Olfr1076	A	T	2: 86,509,205	T249S	probably benign	Het
Olfr1271	A	T	2: 90,265,536	M298K	probably null	Het
Olfr461	A	T	6: 40,544,123	N285K	possibly damaging	Het
Olfr653	A	T	7: 104,580,360	D238V	probably damaging	Het
Papola	T	A	12: 105,807,193	I157N	probably damaging	Het
Pcyox1l	G	C	18: 61,697,893	P303A	possibly damaging	Het
Pkdrej	T	C	15: 85,819,551	N728S	probably benign	Het
Pkp4	A	G	2: 59,318,529	D542G	probably damaging	Het
Pla2g5	C	T	4: 138,800,656	D100N	probably benign	Het
Poln	C	T	5: 34,149,764	R31H	probably benign	Het
Ppp3ca	G	A	3: 136,935,139	A484T	probably benign	Het
Prag1	A	G	8: 36,103,804	T514A	probably benign	Het
Prex2	G	A	1: 11,200,057		probably null	Het
Prrc2b	G	T	2: 32,199,091	W403L	probably damaging	Het
Pter	A	T	2: 13,000,937	K307M	probably damaging	Het
Ptpn5	G	A	7: 47,090,758	S99L	probably benign	Het
Ptpn5	A	C	7: 47,090,759	S99A	probably benign	Het
Rpap1	A	C	2: 119,771,840	H674Q	probably benign	Het
Rph3a	A	T	5: 120,943,064	D623E	probably benign	Het
Sdr9c7	G	T	10: 127,898,719	E25D	probably benign	Het
Sept9	T	G	11: 117,356,632	V479G	probably damaging	Het
Sgo2a	A	G	1: 58,016,697	D680G	probably benign	Het
Sgo2b	A	T	8: 63,928,376	I474N	probably benign	Het
Sgsm1	A	T	5: 113,288,835	I43N	probably damaging	Het
Shprh	G	A	10: 11,170,109	M891I	probably benign	Het
Skiv2l	A	T	17: 34,844,815	Y551N	possibly damaging	Het
Slc12a9	A	G	5: 137,322,846	M469T	probably damaging	Het
Slc4a2	A	T	5: 24,435,943	I747F	probably damaging	Het
Slc7a6	T	A	8: 106,194,517	N373K	probably damaging	Het
Slc7a6os	T	C	8: 106,201,056	D296G	probably benign	Het
Sncaip	A	G	18: 52,905,809	T120A	probably damaging	Het
Sorcs1	G	C	19: 50,313,042		probably null	Het
Spata16	A	G	3: 26,667,456	E42G	probably damaging	Het
Syne2	A	T	12: 75,962,641	M2440L	probably benign	Het
Tead2	A	G	7: 45,225,755	E232G	probably damaging	Het
Tmf1	T	G	6: 97,176,504	T203P	possibly damaging	Het
Trrap	C	A	5: 144,816,395	H1843Q	probably benign	Het
Unc79	C	A	12: 103,171,644	Q2314K	probably damaging	Het
Unc80	G	T	1: 66,510,881	G766V	probably damaging	Het
Vmn2r80	A	T	10: 79,148,939	I42F	possibly damaging	Het
Vwa5a	T	C	9: 38,728,665	V403A	probably damaging	Het
Zfp42	T	C	8: 43,295,951	E171G	probably damaging	Het
Zfp64	A	T	2: 168,926,040	S551T	probably benign	Het

Other mutations in Vmn1r217

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03404:Vmn1r217	APN	13	23114640	missense	probably benign	0.10
R0147:Vmn1r217	UTSW	13	23113937	missense	probably benign
R1249:Vmn1r217	UTSW	13	23114648	missense	probably benign	0.01
R1554:Vmn1r217	UTSW	13	23114294	missense	possibly damaging	0.79
R1777:Vmn1r217	UTSW	13	23114325	missense	probably benign	0.03
R2061:Vmn1r217	UTSW	13	23114528	missense	probably benign	0.19
R2168:Vmn1r217	UTSW	13	23114544	nonsense	probably null
R3122:Vmn1r217	UTSW	13	23114079	missense	probably damaging	1.00
R4832:Vmn1r217	UTSW	13	23113989	missense	probably damaging	1.00
R6500:Vmn1r217	UTSW	13	23113903	nonsense	probably null
R6623:Vmn1r217	UTSW	13	23114676	missense	possibly damaging	0.65
R6909:Vmn1r217	UTSW	13	23113938	missense	probably benign
R7708:Vmn1r217	UTSW	13	23114099	missense	probably benign	0.01
R8223:Vmn1r217	UTSW	13	23114199	missense	probably benign	0.03
R8774:Vmn1r217	UTSW	13	23113938	missense	probably benign
R8774-TAIL:Vmn1r217	UTSW	13	23113938	missense	probably benign
R9129:Vmn1r217	UTSW	13	23114706	missense	probably benign	0.24
R9182:Vmn1r217	UTSW	13	23114325	missense	probably benign	0.03

Predicted Primers

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

Sequencing Primer
(F):5'- CCACAGTGAGGAGACTGC -3'
(R):5'- GAAAAAGTGTTTGCATCCCCG -3'

Posted On

2013-04-16