Mutagenetix > Incidental Mutation

Incidental Mutation 'R4039:Vmn1r218'

313860

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r218

Ensembl Gene

ENSMUSG00000115020

Gene Name

vomeronasal 1 receptor 218

Synonyms

V1ri5

MMRRC Submission

041614-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

R4039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

23133155-23146112 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23136801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 26 (V26A)

Ref Sequence

ENSEMBL: ENSMUSP00000154769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074992] [ENSMUST00000226692] [ENSMUST00000227050] [ENSMUST00000227160] [ENSMUST00000227741]

AlphaFold

Q8R261

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074992
AA Change: V106A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000074519
Gene: ENSMUSG00000115020
AA Change: V106A

Domain	Start	End	E-Value	Type
Pfam:TAS2R	1	288	2e-7	PFAM
Pfam:V1R	33	297	5.4e-41	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000226692
AA Change: V106A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227050
AA Change: V106A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227160
AA Change: V26A

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000227741
AA Change: V26A

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228348

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	A	T	15: 60,016,366	L75Q	possibly damaging	Het
Cep290	T	C	10: 100,512,401		probably null	Het
Col11a2	A	G	17: 34,045,774	T268A	probably benign	Het
Crnkl1	T	A	2: 145,932,327	D72V	possibly damaging	Het
Csn2	C	T	5: 87,698,076	M1I	probably null	Het
Dhcr24	T	C	4: 106,573,878	F255L	probably benign	Het
Epn2	A	G	11: 61,546,522	Y75H	probably damaging	Het
Galnt3	A	T	2: 66,085,327	H563Q	probably damaging	Het
Galnt9	T	C	5: 110,614,208	V37A	probably damaging	Het
Glb1l3	A	C	9: 26,829,047	M329R	probably damaging	Het
Gorab	A	T	1: 163,397,066	D55E	possibly damaging	Het
Herc2	G	A	7: 56,156,411	R2318Q	probably damaging	Het
Hspa2	T	C	12: 76,405,768	V412A	probably damaging	Het
Hspb8	A	G	5: 116,409,344	V193A	probably benign	Het
Ly75	A	G	2: 60,352,995	L481P	probably damaging	Het
Lyzl1	T	C	18: 4,169,140	L48P	probably damaging	Het
Mettl27	C	T	5: 134,940,609	Q212*	probably null	Het
Mmachc	T	A	4: 116,706,018	T47S	probably damaging	Het
Ncam2	C	T	16: 81,490,323	S375L	probably benign	Het
Ogfrl1	T	C	1: 23,378,964		probably benign	Het
Parp9	T	C	16: 35,960,047	L461P	probably damaging	Het
Pcsk7	A	G	9: 45,928,007		probably null	Het
Plekhh1	C	A	12: 79,055,183	H342Q	probably benign	Het
Prdm13	T	G	4: 21,685,774		probably benign	Het
Prkaa2	T	C	4: 105,051,247	N144D	probably damaging	Het
Ptpn12	A	T	5: 21,002,510	Y283*	probably null	Het
Rab12	T	C	17: 66,500,401	Y111C	possibly damaging	Het
Ralgapa1	T	C	12: 55,795,701	N61S	probably damaging	Het
Rims1	T	C	1: 22,475,712	S537G	probably damaging	Het
Sash1	G	T	10: 8,729,627	P1000T	probably damaging	Het
Skint5	G	T	4: 113,885,814	T352K	unknown	Het
Slc12a5	A	G	2: 164,992,330	E757G	probably benign	Het
Sycp2	C	A	2: 178,380,927	M470I	possibly damaging	Het
Szt2	T	C	4: 118,364,952		probably benign	Het
Tbc1d1	A	G	5: 64,316,428	T765A	probably damaging	Het
Tgfbr2	T	C	9: 116,175,037	M1V	probably null	Het
Tnfrsf11a	A	G	1: 105,827,739		probably null	Het
Trim43b	A	G	9: 89,091,347	L111P	probably damaging	Het
Ttbk2	A	T	2: 120,745,795	S900R	probably benign	Het
Unc79	G	A	12: 103,074,949	C747Y	possibly damaging	Het
Vmn2r115	A	T	17: 23,345,103	Y83F	probably benign	Het
Zfp536	A	T	7: 37,569,550	L147Q	probably damaging	Het
Zfp931	T	A	2: 178,067,984	Q203L	possibly damaging	Het
Zswim2	G	A	2: 83,915,994	H367Y	probably damaging	Het

Other mutations in Vmn1r218

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02014:Vmn1r218	APN	13	23136831	missense	probably damaging	0.97
IGL02670:Vmn1r218	APN	13	23137004	missense	probably benign	0.01
IGL03085:Vmn1r218	APN	13	23137311	missense	possibly damaging	0.76
IGL03334:Vmn1r218	APN	13	23136618	missense	probably damaging	1.00
R0049:Vmn1r218	UTSW	13	23137055	nonsense	probably null
R0049:Vmn1r218	UTSW	13	23137055	nonsense	probably null
R1387:Vmn1r218	UTSW	13	23137308	missense	probably damaging	1.00
R1959:Vmn1r218	UTSW	13	23136513	missense	probably damaging	0.96
R3713:Vmn1r218	UTSW	13	23136911	missense	probably damaging	1.00
R3714:Vmn1r218	UTSW	13	23136911	missense	probably damaging	1.00
R4037:Vmn1r218	UTSW	13	23136801	missense	possibly damaging	0.91
R4038:Vmn1r218	UTSW	13	23136801	missense	possibly damaging	0.91
R4432:Vmn1r218	UTSW	13	23137242	missense	possibly damaging	0.87
R5255:Vmn1r218	UTSW	13	23136711	missense	possibly damaging	0.92
R5521:Vmn1r218	UTSW	13	23136573	missense	probably benign	0.01
R7384:Vmn1r218	UTSW	13	23136725	missense	probably benign	0.00
R7565:Vmn1r218	UTSW	13	23136660	missense	probably benign	0.05
R8178:Vmn1r218	UTSW	13	23137302	missense	probably benign	0.08
R8536:Vmn1r218	UTSW	13	23137365	missense	probably benign	0.00
R9225:Vmn1r218	UTSW	13	23136654	missense	probably benign	0.04
R9609:Vmn1r218	UTSW	13	23136669	missense	probably benign	0.01
R9734:Vmn1r218	UTSW	13	23136864	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTGGGGACTGAGAAAAGACC -3'
(R):5'- CAGTGGCCAATGAATGTTGC -3'

Sequencing Primer
(F):5'- AGACCGATAGATCTTATTCTCATCC -3'
(R):5'- ATGTTGCAGCTACAGACCTG -3'

Posted On

2015-04-30