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: 0.131) question?

Stock #

R2519 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19361949-19401098 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19378708 bp (GRCm38)

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: 93,589,588 (GRCm38)		probably benign	Het
Actn1	A	T	12: 80,192,389 (GRCm38)	H247Q	probably damaging	Het
Adgre1	T	C	17: 57,410,956 (GRCm38)	C323R	probably damaging	Het
Adgrf2	T	A	17: 42,710,407 (GRCm38)	I509F	probably damaging	Het
Aknad1	A	T	3: 108,756,468 (GRCm38)	T331S	probably damaging	Het
Aldh1a3	T	C	7: 66,422,299 (GRCm38)	D39G	probably benign	Het
Alms1	C	A	6: 85,667,963 (GRCm38)		probably benign	Het
Ankhd1	T	G	18: 36,578,543 (GRCm38)		probably null	Het
Arfgef2	T	C	2: 166,881,244 (GRCm38)	S1535P	probably benign	Het
BC027072	C	T	17: 71,751,647 (GRCm38)	S345N	probably damaging	Het
Bicc1	T	C	10: 70,930,644 (GRCm38)	E916G	probably damaging	Het
Birc2	A	T	9: 7,821,179 (GRCm38)	D381E	possibly damaging	Het
Btbd11	T	A	10: 85,651,611 (GRCm38)	V981D	probably damaging	Het
Carnmt1	A	G	19: 18,693,711 (GRCm38)	I316V	probably benign	Het
Chd6	T	A	2: 161,029,876 (GRCm38)	Y213F	possibly damaging	Het
Coq7	A	T	7: 118,510,148 (GRCm38)	W226R	unknown	Het
Cyp2d9	G	A	15: 82,454,518 (GRCm38)		probably null	Het
Ddx42	T	A	11: 106,245,329 (GRCm38)	N635K	probably damaging	Het
Dmtf1	T	C	5: 9,129,323 (GRCm38)	T292A	possibly damaging	Het
Dnajb8	T	C	6: 88,222,875 (GRCm38)	V131A	probably benign	Het
Dock6	T	C	9: 21,816,333 (GRCm38)	E1367G	possibly damaging	Het
Dvl1	T	A	4: 155,855,543 (GRCm38)	Y377*	probably null	Het
Eif4g3	T	A	4: 138,097,318 (GRCm38)	F278Y	probably benign	Het
Fancg	A	T	4: 43,008,787 (GRCm38)	L150H	probably damaging	Het
Fastkd5	T	C	2: 130,616,194 (GRCm38)	T159A	possibly damaging	Het
Fkrp	G	T	7: 16,810,952 (GRCm38)	Y328*	probably null	Het
Fmo3	A	T	1: 162,958,305 (GRCm38)	V372D	probably damaging	Het
Gm10639	T	G	9: 78,304,439 (GRCm38)	L161R	probably damaging	Het
Gm12184	A	G	11: 48,826,123 (GRCm38)	I76T	probably damaging	Het
Gm5065	A	T	7: 5,359,834 (GRCm38)	I155F	probably damaging	Het
Gtf2h4	C	A	17: 35,670,909 (GRCm38)	G143W	probably damaging	Het
Hivep2	C	A	10: 14,128,969 (GRCm38)	T437K	probably benign	Het
Hmcn1	A	T	1: 150,773,820 (GRCm38)	Y638*	probably null	Het
Ighv11-2	T	A	12: 114,048,292 (GRCm38)	Q101L	probably damaging	Het
Lipf	G	T	19: 33,965,525 (GRCm38)	V78L	probably damaging	Het
Magi3	T	C	3: 104,015,765 (GRCm38)	E1212G	probably benign	Het
Mfap5	T	C	6: 122,525,989 (GRCm38)	S75P	probably damaging	Het
Mn1	C	A	5: 111,418,552 (GRCm38)	H129Q	possibly damaging	Het
Morc3	A	G	16: 93,862,539 (GRCm38)		probably null	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Myo5c	A	G	9: 75,250,436 (GRCm38)	I224V	probably damaging	Het
Nupl1	T	C	14: 60,223,359 (GRCm38)	T486A	probably benign	Het
Olfr1026	A	G	2: 85,923,607 (GRCm38)	Y113C	probably damaging	Het
Olfr910	T	A	9: 38,538,985 (GRCm38)	V30D	probably damaging	Het
Parp14	A	T	16: 35,858,203 (GRCm38)	L465Q	possibly damaging	Het
Plcd3	A	T	11: 103,080,400 (GRCm38)	I110N	possibly damaging	Het
Prx	A	G	7: 27,518,243 (GRCm38)	E862G	probably benign	Het
Rad50	G	A	11: 53,707,185 (GRCm38)		probably benign	Het
Rbm15	A	G	3: 107,330,833 (GRCm38)	S750P	probably benign	Het
Reln	C	A	5: 22,344,369 (GRCm38)	A14S	unknown	Het
Rph3a	T	C	5: 120,954,422 (GRCm38)	Y372C	probably damaging	Het
Serpine2	T	A	1: 79,799,539 (GRCm38)	H187L	possibly damaging	Het
Slc11a2	T	C	15: 100,401,323 (GRCm38)	D122G	probably damaging	Het
Slc25a32	A	T	15: 39,096,055 (GRCm38)	V289E	probably damaging	Het
Slc25a46	A	T	18: 31,602,761 (GRCm38)	S142T	probably benign	Het
Srm	A	G	4: 148,591,504 (GRCm38)		probably null	Het
Srsf5	A	G	12: 80,949,096 (GRCm38)	D123G	probably damaging	Het
Stab1	A	T	14: 31,154,872 (GRCm38)	C832S	probably damaging	Het
Stab2	A	C	10: 86,934,840 (GRCm38)		probably benign	Het
Suds3	T	C	5: 117,094,953 (GRCm38)	N282S	probably damaging	Het
Taar9	A	T	10: 24,109,254 (GRCm38)	V94E	probably damaging	Het
Taf2	C	A	15: 55,052,247 (GRCm38)	A428S	probably benign	Het
Tbk1	G	T	10: 121,557,259 (GRCm38)	T462K	probably benign	Het
Tcaf2	T	G	6: 42,629,431 (GRCm38)	I530L	possibly damaging	Het
Tigd4	A	G	3: 84,593,914 (GRCm38)	Y46C	probably damaging	Het
Topors	G	T	4: 40,261,714 (GRCm38)	Y523*	probably null	Het
Tpte	T	C	8: 22,333,160 (GRCm38)		probably benign	Het
Trpv5	T	A	6: 41,674,350 (GRCm38)	Q254L	probably damaging	Het
Trpv6	G	A	6: 41,624,616 (GRCm38)	Q457*	probably null	Het
Ush2a	A	T	1: 188,267,107 (GRCm38)	M205L	probably benign	Het
Vmn1r90	A	T	7: 14,561,718 (GRCm38)	Y152N	probably damaging	Het
Vmn2r124	T	A	17: 18,074,018 (GRCm38)	V789D	probably damaging	Het
Vstm2b	T	C	7: 40,902,875 (GRCm38)	V248A	probably benign	Het
Wnk2	T	C	13: 49,071,029 (GRCm38)	K1019E	probably damaging	Het
Zfhx4	C	T	3: 5,403,358 (GRCm38)	P2859S	probably benign	Het
Zfp229	T	A	17: 21,745,587 (GRCm38)	F266Y	possibly damaging	Het
Zfp616	T	A	11: 74,084,268 (GRCm38)	C454*	probably null	Het

Other mutations in Vmn2r99

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00503:Vmn2r99	APN	17	19,378,854 (GRCm38)	missense	probably benign	0.01
IGL01113:Vmn2r99	APN	17	19,394,256 (GRCm38)	missense	probably benign	0.20
IGL01138:Vmn2r99	APN	17	19,382,623 (GRCm38)	missense	probably damaging	0.97
IGL01646:Vmn2r99	APN	17	19,393,658 (GRCm38)	splice site	probably benign
IGL01769:Vmn2r99	APN	17	19,380,115 (GRCm38)	missense	probably damaging	1.00
IGL02112:Vmn2r99	APN	17	19,380,232 (GRCm38)	missense	probably null	0.99
IGL02891:Vmn2r99	APN	17	19,378,690 (GRCm38)	nonsense	probably null
IGL03132:Vmn2r99	APN	17	19,378,223 (GRCm38)	nonsense	probably null
FR4548:Vmn2r99	UTSW	17	19,394,285 (GRCm38)	missense	probably damaging	0.97
FR4976:Vmn2r99	UTSW	17	19,394,285 (GRCm38)	missense	probably damaging	0.97
PIT4382001:Vmn2r99	UTSW	17	19,394,343 (GRCm38)	missense	probably damaging	1.00
R0196:Vmn2r99	UTSW	17	19,394,573 (GRCm38)	missense	probably benign	0.00
R0720:Vmn2r99	UTSW	17	19,379,043 (GRCm38)	missense	probably benign	0.00
R1501:Vmn2r99	UTSW	17	19,362,259 (GRCm38)	missense	possibly damaging	0.93
R1519:Vmn2r99	UTSW	17	19,380,060 (GRCm38)	missense	probably benign	0.00
R1670:Vmn2r99	UTSW	17	19,362,252 (GRCm38)	missense	probably benign	0.37
R1682:Vmn2r99	UTSW	17	19,377,945 (GRCm38)	missense	probably damaging	0.97
R1873:Vmn2r99	UTSW	17	19,362,153 (GRCm38)	missense	probably benign	0.25
R1967:Vmn2r99	UTSW	17	19,378,815 (GRCm38)	missense	probably benign	0.01
R2101:Vmn2r99	UTSW	17	19,377,991 (GRCm38)	missense	probably damaging	1.00
R2474:Vmn2r99	UTSW	17	19,378,629 (GRCm38)	missense	probably benign	0.04
R3911:Vmn2r99	UTSW	17	19,394,373 (GRCm38)	missense	possibly damaging	0.92
R3947:Vmn2r99	UTSW	17	19,378,990 (GRCm38)	missense	probably benign	0.40
R3949:Vmn2r99	UTSW	17	19,378,990 (GRCm38)	missense	probably benign	0.40
R4016:Vmn2r99	UTSW	17	19,378,570 (GRCm38)	missense	possibly damaging	0.86
R4413:Vmn2r99	UTSW	17	19,379,260 (GRCm38)	missense	probably damaging	1.00
R4594:Vmn2r99	UTSW	17	19,393,662 (GRCm38)	missense	probably damaging	1.00
R4999:Vmn2r99	UTSW	17	19,362,135 (GRCm38)	start codon destroyed	probably null	0.96
R5206:Vmn2r99	UTSW	17	19,378,606 (GRCm38)	missense	probably benign	0.40
R5362:Vmn2r99	UTSW	17	19,379,339 (GRCm38)	missense	probably benign	0.00
R5377:Vmn2r99	UTSW	17	19,379,269 (GRCm38)	missense	probably damaging	1.00
R5455:Vmn2r99	UTSW	17	19,394,146 (GRCm38)	nonsense	probably null
R6021:Vmn2r99	UTSW	17	19,377,948 (GRCm38)	missense	probably damaging	1.00
R6059:Vmn2r99	UTSW	17	19,378,980 (GRCm38)	missense	probably benign	0.00
R6214:Vmn2r99	UTSW	17	19,382,558 (GRCm38)	missense	probably benign	0.19
R6215:Vmn2r99	UTSW	17	19,382,558 (GRCm38)	missense	probably benign	0.19
R6313:Vmn2r99	UTSW	17	19,382,605 (GRCm38)	missense	probably damaging	1.00
R6646:Vmn2r99	UTSW	17	19,380,031 (GRCm38)	missense	probably damaging	1.00
R6810:Vmn2r99	UTSW	17	19,380,034 (GRCm38)	missense	probably benign	0.20
R6885:Vmn2r99	UTSW	17	19,380,195 (GRCm38)	missense	possibly damaging	0.52
R6991:Vmn2r99	UTSW	17	19,378,110 (GRCm38)	missense	probably benign	0.03
R7060:Vmn2r99	UTSW	17	19,394,564 (GRCm38)	nonsense	probably null
R7090:Vmn2r99	UTSW	17	19,393,710 (GRCm38)	missense	possibly damaging	0.83
R7094:Vmn2r99	UTSW	17	19,379,311 (GRCm38)	missense	probably benign	0.00
R7449:Vmn2r99	UTSW	17	19,379,145 (GRCm38)	missense	probably benign	0.01
R7789:Vmn2r99	UTSW	17	19,393,817 (GRCm38)	missense	possibly damaging	0.91
R8039:Vmn2r99	UTSW	17	19,380,040 (GRCm38)	missense	probably benign	0.00
R8493:Vmn2r99	UTSW	17	19,393,758 (GRCm38)	missense	probably benign	0.15
R8511:Vmn2r99	UTSW	17	19,394,181 (GRCm38)	missense	probably damaging	1.00
R8715:Vmn2r99	UTSW	17	19,393,660 (GRCm38)	critical splice acceptor site	probably benign
R9462:Vmn2r99	UTSW	17	19,378,126 (GRCm38)	nonsense	probably null
R9681:Vmn2r99	UTSW	17	19,378,627 (GRCm38)	missense	probably damaging	1.00
R9737:Vmn2r99	UTSW	17	19,362,301 (GRCm38)	missense	probably benign
Z1088:Vmn2r99	UTSW	17	19,379,301 (GRCm38)	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