Mutagenetix > Incidental Mutation

Incidental Mutation 'R2519:Vmn2r99'

254266

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r99

Ensembl Gene

ENSMUSG00000090304

Gene Name

vomeronasal 2, receptor 99

Synonyms

EG665376

MMRRC Submission

040423-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R2519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19582397-19614852 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19598970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 218 (I218T)

Ref Sequence

ENSEMBL: ENSMUSP00000156067 (fasta)

Gene Model

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

AlphaFold

H3BK37

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176107
AA Change: I218T

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135236
Gene: ENSMUSG00000090304
AA Change: I218T

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: I218T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

99% (72/73)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408J17Rik	G	A	10: 93,425,450 (GRCm39)		probably benign	Het
Abtb3	T	A	10: 85,487,475 (GRCm39)	V981D	probably damaging	Het
Actn1	A	T	12: 80,239,163 (GRCm39)	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,717,956 (GRCm39)	C323R	probably damaging	Het
Adgrf2	T	A	17: 43,021,298 (GRCm39)	I509F	probably damaging	Het
Aknad1	A	T	3: 108,663,784 (GRCm39)	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,072,047 (GRCm39)	D39G	probably benign	Het
Alms1	C	A	6: 85,644,945 (GRCm39)		probably benign	Het
Ankhd1	T	G	18: 36,711,596 (GRCm39)		probably null	Het
Arfgef2	T	C	2: 166,723,164 (GRCm39)	S1535P	probably benign	Het
Bicc1	T	C	10: 70,766,474 (GRCm39)	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,180 (GRCm39)	D381E	possibly damaging	Het
Carnmt1	A	G	19: 18,671,075 (GRCm39)	I316V	probably benign	Het
Cdk2ap1rt	A	G	11: 48,716,950 (GRCm39)	I76T	probably damaging	Het
Chd6	T	A	2: 160,871,796 (GRCm39)	Y213F	possibly damaging	Het
Coq7	A	T	7: 118,109,371 (GRCm39)	W226R	unknown	Het
Cyp2d9	G	A	15: 82,338,719 (GRCm39)		probably null	Het
Ddx42	T	A	11: 106,136,155 (GRCm39)	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,179,323 (GRCm39)	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,199,857 (GRCm39)	V131A	probably benign	Het
Dock6	T	C	9: 21,727,629 (GRCm39)	E1367G	possibly damaging	Het
Dvl1	T	A	4: 155,940,000 (GRCm39)	Y377*	probably null	Het
Eif4g3	T	A	4: 137,824,629 (GRCm39)	F278Y	probably benign	Het
Fancg	A	T	4: 43,008,787 (GRCm39)	L150H	probably damaging	Het
Fastkd5	T	C	2: 130,458,114 (GRCm39)	T159A	possibly damaging	Het
Fkrp	G	T	7: 16,544,877 (GRCm39)	Y328*	probably null	Het
Fmo3	A	T	1: 162,785,874 (GRCm39)	V372D	probably damaging	Het
Gsta5	T	G	9: 78,211,721 (GRCm39)	L161R	probably damaging	Het
Gtf2h4	C	A	17: 35,981,801 (GRCm39)	G143W	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hmcn1	A	T	1: 150,649,571 (GRCm39)	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,011,912 (GRCm39)	Q101L	probably damaging	Het
Lgalsl2	A	T	7: 5,362,833 (GRCm39)	I155F	probably damaging	Het
Lipf	G	T	19: 33,942,925 (GRCm39)	V78L	probably damaging	Het
Magi3	T	C	3: 103,923,081 (GRCm39)	E1212G	probably benign	Het
Mfap5	T	C	6: 122,502,948 (GRCm39)	S75P	probably damaging	Het
Mn1	C	A	5: 111,566,418 (GRCm39)	H129Q	possibly damaging	Het
Morc3	A	G	16: 93,659,427 (GRCm39)		probably null	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Myo5c	A	G	9: 75,157,718 (GRCm39)	I224V	probably damaging	Het
Nup58	T	C	14: 60,460,808 (GRCm39)	T486A	probably benign	Het
Or5m13b	A	G	2: 85,753,951 (GRCm39)	Y113C	probably damaging	Het
Or8b46	T	A	9: 38,450,281 (GRCm39)	V30D	probably damaging	Het
Parp14	A	T	16: 35,678,573 (GRCm39)	L465Q	possibly damaging	Het
Pcare	C	T	17: 72,058,642 (GRCm39)	S345N	probably damaging	Het
Plcd3	A	T	11: 102,971,226 (GRCm39)	I110N	possibly damaging	Het
Prx	A	G	7: 27,217,668 (GRCm39)	E862G	probably benign	Het
Rad50	G	A	11: 53,598,012 (GRCm39)		probably benign	Het
Rbm15	A	G	3: 107,238,149 (GRCm39)	S750P	probably benign	Het
Reln	C	A	5: 22,549,367 (GRCm39)	A14S	unknown	Het
Rph3a	T	C	5: 121,092,485 (GRCm39)	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,777,256 (GRCm39)	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,299,204 (GRCm39)	D122G	probably damaging	Het
Slc25a32	A	T	15: 38,959,450 (GRCm39)	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,735,814 (GRCm39)	S142T	probably benign	Het
Srm	A	G	4: 148,675,961 (GRCm39)		probably null	Het
Srsf5	A	G	12: 80,995,870 (GRCm39)	D123G	probably damaging	Het
Stab1	A	T	14: 30,876,829 (GRCm39)	C832S	probably damaging	Het
Stab2	A	C	10: 86,770,704 (GRCm39)		probably benign	Het
Suds3	T	C	5: 117,233,018 (GRCm39)	N282S	probably damaging	Het
Taar9	A	T	10: 23,985,152 (GRCm39)	V94E	probably damaging	Het
Taf2	C	A	15: 54,915,643 (GRCm39)	A428S	probably benign	Het
Tbk1	G	T	10: 121,393,164 (GRCm39)	T462K	probably benign	Het
Tcaf2	T	G	6: 42,606,365 (GRCm39)	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,501,221 (GRCm39)	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714 (GRCm39)	Y523*	probably null	Het
Tpte	T	C	8: 22,823,176 (GRCm39)		probably benign	Het
Trpv5	T	A	6: 41,651,284 (GRCm39)	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,601,550 (GRCm39)	Q457*	probably null	Het
Ush2a	A	T	1: 187,999,304 (GRCm39)	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,295,643 (GRCm39)	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,294,280 (GRCm39)	V789D	probably damaging	Het
Vstm2b	T	C	7: 40,552,299 (GRCm39)	V248A	probably benign	Het
Wnk2	T	C	13: 49,224,505 (GRCm39)	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	probably benign	Het
Zfp229	T	A	17: 21,964,568 (GRCm39)	F266Y	possibly damaging	Het
Zfp616	T	A	11: 73,975,094 (GRCm39)	C454*	probably null	Het

Other mutations in Vmn2r99

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Vmn2r99	APN	17	19,599,116 (GRCm39)	missense	probably benign	0.01
IGL01113:Vmn2r99	APN	17	19,614,518 (GRCm39)	missense	probably benign	0.20
IGL01138:Vmn2r99	APN	17	19,602,885 (GRCm39)	missense	probably damaging	0.97
IGL01646:Vmn2r99	APN	17	19,613,920 (GRCm39)	splice site	probably benign
IGL01769:Vmn2r99	APN	17	19,600,377 (GRCm39)	missense	probably damaging	1.00
IGL02112:Vmn2r99	APN	17	19,600,494 (GRCm39)	missense	probably null	0.99
IGL02891:Vmn2r99	APN	17	19,598,952 (GRCm39)	nonsense	probably null
IGL03132:Vmn2r99	APN	17	19,598,485 (GRCm39)	nonsense	probably null
FR4548:Vmn2r99	UTSW	17	19,614,547 (GRCm39)	missense	probably damaging	0.97
FR4976:Vmn2r99	UTSW	17	19,614,547 (GRCm39)	missense	probably damaging	0.97
PIT4382001:Vmn2r99	UTSW	17	19,614,605 (GRCm39)	missense	probably damaging	1.00
R0196:Vmn2r99	UTSW	17	19,614,835 (GRCm39)	missense	probably benign	0.00
R0720:Vmn2r99	UTSW	17	19,599,305 (GRCm39)	missense	probably benign	0.00
R1501:Vmn2r99	UTSW	17	19,582,521 (GRCm39)	missense	possibly damaging	0.93
R1519:Vmn2r99	UTSW	17	19,600,322 (GRCm39)	missense	probably benign	0.00
R1670:Vmn2r99	UTSW	17	19,582,514 (GRCm39)	missense	probably benign	0.37
R1682:Vmn2r99	UTSW	17	19,598,207 (GRCm39)	missense	probably damaging	0.97
R1873:Vmn2r99	UTSW	17	19,582,415 (GRCm39)	missense	probably benign	0.25
R1967:Vmn2r99	UTSW	17	19,599,077 (GRCm39)	missense	probably benign	0.01
R2101:Vmn2r99	UTSW	17	19,598,253 (GRCm39)	missense	probably damaging	1.00
R2474:Vmn2r99	UTSW	17	19,598,891 (GRCm39)	missense	probably benign	0.04
R3911:Vmn2r99	UTSW	17	19,614,635 (GRCm39)	missense	possibly damaging	0.92
R3947:Vmn2r99	UTSW	17	19,599,252 (GRCm39)	missense	probably benign	0.40
R3949:Vmn2r99	UTSW	17	19,599,252 (GRCm39)	missense	probably benign	0.40
R4016:Vmn2r99	UTSW	17	19,598,832 (GRCm39)	missense	possibly damaging	0.86
R4413:Vmn2r99	UTSW	17	19,599,522 (GRCm39)	missense	probably damaging	1.00
R4594:Vmn2r99	UTSW	17	19,613,924 (GRCm39)	missense	probably damaging	1.00
R4999:Vmn2r99	UTSW	17	19,582,397 (GRCm39)	start codon destroyed	probably null	0.96
R5206:Vmn2r99	UTSW	17	19,598,868 (GRCm39)	missense	probably benign	0.40
R5362:Vmn2r99	UTSW	17	19,599,601 (GRCm39)	missense	probably benign	0.00
R5377:Vmn2r99	UTSW	17	19,599,531 (GRCm39)	missense	probably damaging	1.00
R5455:Vmn2r99	UTSW	17	19,614,408 (GRCm39)	nonsense	probably null
R6021:Vmn2r99	UTSW	17	19,598,210 (GRCm39)	missense	probably damaging	1.00
R6059:Vmn2r99	UTSW	17	19,599,242 (GRCm39)	missense	probably benign	0.00
R6214:Vmn2r99	UTSW	17	19,602,820 (GRCm39)	missense	probably benign	0.19
R6215:Vmn2r99	UTSW	17	19,602,820 (GRCm39)	missense	probably benign	0.19
R6313:Vmn2r99	UTSW	17	19,602,867 (GRCm39)	missense	probably damaging	1.00
R6646:Vmn2r99	UTSW	17	19,600,293 (GRCm39)	missense	probably damaging	1.00
R6810:Vmn2r99	UTSW	17	19,600,296 (GRCm39)	missense	probably benign	0.20
R6885:Vmn2r99	UTSW	17	19,600,457 (GRCm39)	missense	possibly damaging	0.52
R6991:Vmn2r99	UTSW	17	19,598,372 (GRCm39)	missense	probably benign	0.03
R7060:Vmn2r99	UTSW	17	19,614,826 (GRCm39)	nonsense	probably null
R7090:Vmn2r99	UTSW	17	19,613,972 (GRCm39)	missense	possibly damaging	0.83
R7094:Vmn2r99	UTSW	17	19,599,573 (GRCm39)	missense	probably benign	0.00
R7449:Vmn2r99	UTSW	17	19,599,407 (GRCm39)	missense	probably benign	0.01
R7789:Vmn2r99	UTSW	17	19,614,079 (GRCm39)	missense	possibly damaging	0.91
R8039:Vmn2r99	UTSW	17	19,600,302 (GRCm39)	missense	probably benign	0.00
R8493:Vmn2r99	UTSW	17	19,614,020 (GRCm39)	missense	probably benign	0.15
R8511:Vmn2r99	UTSW	17	19,614,443 (GRCm39)	missense	probably damaging	1.00
R8715:Vmn2r99	UTSW	17	19,613,922 (GRCm39)	critical splice acceptor site	probably benign
R9462:Vmn2r99	UTSW	17	19,598,388 (GRCm39)	nonsense	probably null
R9681:Vmn2r99	UTSW	17	19,598,889 (GRCm39)	missense	probably damaging	1.00
R9737:Vmn2r99	UTSW	17	19,582,563 (GRCm39)	missense	probably benign
Z1088:Vmn2r99	UTSW	17	19,599,563 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- TCCTTGAAACTTAGAGGCCTTAC -3'
(R):5'- CCTTCTAGCGAATCAATGTCAC -3'

Sequencing Primer
(F):5'- AAGTCCCTTTAAAACATTCTCCTG -3'
(R):5'- CGGGGGTCATTTTTACAAAA -3'

Posted On

2014-12-04