Mutagenetix > Incidental Mutations

Incidental Mutation 'R4413:Vmn2r99'

328035

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r99

Ensembl Gene

ENSMUSG00000090304

Gene Name

vomeronasal 2, receptor 99

Synonyms

EG665376

MMRRC Submission

041136-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R4413 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19361949-19401098 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19379260 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 402 (V402E)

Ref Sequence

ENSEMBL: ENSMUSP00000156067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000176107] [ENSMUST00000231989]

Predicted Effect

probably damaging
Transcript: ENSMUST00000176107
AA Change: V402E

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

SMART Domains

Protein: ENSMUSP00000135236
Gene: ENSMUSG00000090304
AA Change: V402E

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:ANF_receptor	81	448	5.7e-33	PFAM
Pfam:NCD3G	508	561	1.8e-21	PFAM
Pfam:7tm_3	593	829	4.6e-52	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000231989
AA Change: V402E

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

93% (42/45)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,958,681		probably null	Het
Adprhl1	T	C	8: 13,246,114	K144E	probably benign	Het
Bcdin3d	A	G	15: 99,470,733	L195P	probably damaging	Het
Col11a1	T	A	3: 114,108,316	S553R	unknown	Het
Cp	A	T	3: 19,966,353	D170V	probably damaging	Het
Dnah17	C	T	11: 118,025,168	A4303T	probably benign	Het
Dpp4	G	A	2: 62,387,140	R38C	possibly damaging	Het
Dusp6	C	T	10: 99,263,924	T78M	probably damaging	Het
Exoc1	A	G	5: 76,542,019		probably benign	Het
Fbxl13	A	T	5: 21,582,053	C295*	probably null	Het
Gpsm1	G	A	2: 26,319,831		probably benign	Het
Gstm4	T	A	3: 108,043,328	D85V	possibly damaging	Het
Hectd4	A	G	5: 121,350,481	N3612D	possibly damaging	Het
Izumo3	T	C	4: 92,146,899	D27G	probably damaging	Het
Kcna4	T	A	2: 107,295,373	C151S	probably benign	Het
Lrrc10	A	G	10: 117,045,814	N131S	probably damaging	Het
Madd	A	G	2: 91,167,587	S699P	probably damaging	Het
Mcpt4	A	T	14: 56,060,536	V186D	probably damaging	Het
Mrgprx3-ps	T	C	7: 47,309,998		noncoding transcript	Het
Mrm1	G	T	11: 84,819,228	R49S	possibly damaging	Het
Nav2	T	A	7: 49,398,109	N91K	probably benign	Het
Noct	C	T	3: 51,250,335	R365W	probably damaging	Het
Ntn1	C	T	11: 68,385,910	G71S	probably damaging	Het
Olfr417	T	C	1: 174,369,474	S186P	probably damaging	Het
Plekhg3	A	C	12: 76,577,764	T1127P	probably damaging	Het
Rhbdl2	A	T	4: 123,810,087	M52L	probably benign	Het
Slc10a1	T	C	12: 80,958,132	N212S	probably benign	Het
Sohlh2	C	A	3: 55,197,002	T264K	probably damaging	Het
Srrm2	A	G	17: 23,810,468		probably benign	Het
Syn3	C	A	10: 86,055,592		probably benign	Het
Taf5	T	A	19: 47,071,014	V199D	probably damaging	Het
Tas2r136	C	A	6: 132,778,009	V52L	probably damaging	Het
Tex45	T	A	8: 3,483,529	H278Q	probably damaging	Het
Tnk2	C	T	16: 32,669,501	R191C	probably damaging	Het
Ttn	A	G	2: 76,725,776	I21968T	probably damaging	Het
Ubxn6	A	T	17: 56,069,303	V311E	probably damaging	Het
Usp7	C	A	16: 8,708,914	D187Y	probably damaging	Het
Vmn1r115	C	T	7: 20,844,282	R235K	probably benign	Het
Vmn2r50	A	C	7: 10,050,308	F80V	probably damaging	Het
Vmn2r58	T	A	7: 41,861,936	K481M	possibly damaging	Het
Vmn2r86	A	G	10: 130,452,600	I344T	possibly damaging	Het
Zfp462	A	G	4: 55,012,672	D1546G	probably damaging	Het

Other mutations in Vmn2r99

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Vmn2r99	APN	17	19378854	missense	probably benign	0.01
IGL01113:Vmn2r99	APN	17	19394256	missense	probably benign	0.20
IGL01138:Vmn2r99	APN	17	19382623	missense	probably damaging	0.97
IGL01646:Vmn2r99	APN	17	19393658	splice site	probably benign
IGL01769:Vmn2r99	APN	17	19380115	missense	probably damaging	1.00
IGL02112:Vmn2r99	APN	17	19380232	missense	probably null	0.99
IGL02891:Vmn2r99	APN	17	19378690	nonsense	probably null
IGL03132:Vmn2r99	APN	17	19378223	nonsense	probably null
FR4548:Vmn2r99	UTSW	17	19394285	missense	probably damaging	0.97
FR4976:Vmn2r99	UTSW	17	19394285	missense	probably damaging	0.97
PIT4382001:Vmn2r99	UTSW	17	19394343	missense	probably damaging	1.00
R0196:Vmn2r99	UTSW	17	19394573	missense	probably benign	0.00
R0720:Vmn2r99	UTSW	17	19379043	missense	probably benign	0.00
R1501:Vmn2r99	UTSW	17	19362259	missense	possibly damaging	0.93
R1519:Vmn2r99	UTSW	17	19380060	missense	probably benign	0.00
R1670:Vmn2r99	UTSW	17	19362252	missense	probably benign	0.37
R1682:Vmn2r99	UTSW	17	19377945	missense	probably damaging	0.97
R1873:Vmn2r99	UTSW	17	19362153	missense	probably benign	0.25
R1967:Vmn2r99	UTSW	17	19378815	missense	probably benign	0.01
R2101:Vmn2r99	UTSW	17	19377991	missense	probably damaging	1.00
R2474:Vmn2r99	UTSW	17	19378629	missense	probably benign	0.04
R2519:Vmn2r99	UTSW	17	19378708	missense	probably damaging	0.99
R3911:Vmn2r99	UTSW	17	19394373	missense	possibly damaging	0.92
R3947:Vmn2r99	UTSW	17	19378990	missense	probably benign	0.40
R3949:Vmn2r99	UTSW	17	19378990	missense	probably benign	0.40
R4016:Vmn2r99	UTSW	17	19378570	missense	possibly damaging	0.86
R4594:Vmn2r99	UTSW	17	19393662	missense	probably damaging	1.00
R4999:Vmn2r99	UTSW	17	19362135	start codon destroyed	probably null	0.96
R5206:Vmn2r99	UTSW	17	19378606	missense	probably benign	0.40
R5362:Vmn2r99	UTSW	17	19379339	missense	probably benign	0.00
R5377:Vmn2r99	UTSW	17	19379269	missense	probably damaging	1.00
R5455:Vmn2r99	UTSW	17	19394146	nonsense	probably null
R6021:Vmn2r99	UTSW	17	19377948	missense	probably damaging	1.00
R6059:Vmn2r99	UTSW	17	19378980	missense	probably benign	0.00
R6214:Vmn2r99	UTSW	17	19382558	missense	probably benign	0.19
R6215:Vmn2r99	UTSW	17	19382558	missense	probably benign	0.19
R6313:Vmn2r99	UTSW	17	19382605	missense	probably damaging	1.00
R6646:Vmn2r99	UTSW	17	19380031	missense	probably damaging	1.00
R6810:Vmn2r99	UTSW	17	19380034	missense	probably benign	0.20
R6885:Vmn2r99	UTSW	17	19380195	missense	possibly damaging	0.52
R6991:Vmn2r99	UTSW	17	19378110	missense	probably benign	0.03
R7060:Vmn2r99	UTSW	17	19394564	nonsense	probably null
R7090:Vmn2r99	UTSW	17	19393710	missense	possibly damaging	0.83
R7094:Vmn2r99	UTSW	17	19379311	missense	probably benign	0.00
R7449:Vmn2r99	UTSW	17	19379145	missense	probably benign	0.01
R7789:Vmn2r99	UTSW	17	19393817	missense	possibly damaging	0.91
R8039:Vmn2r99	UTSW	17	19380040	missense	probably benign	0.00
R8493:Vmn2r99	UTSW	17	19393758	missense	probably benign	0.15
R8511:Vmn2r99	UTSW	17	19394181	missense	probably damaging	1.00
R8715:Vmn2r99	UTSW	17	19393660	critical splice acceptor site	probably benign
Z1088:Vmn2r99	UTSW	17	19379301	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- GTCTGGATCATGAACATTGAACATC -3'
(R):5'- TGCTCCTGGTATCTTGTACATG -3'

Sequencing Primer
(F):5'- CCATGGAAGCCTAATTTTTAAGCAC -3'
(R):5'- GCTCCTGGTATCTTGTACATGATTTC -3'

Posted On

2015-07-07