Mutagenetix > Incidental Mutation

Incidental Mutation 'R2340:Vmn2r112'

246729

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r112

Ensembl Gene

ENSMUSG00000094921

Gene Name

vomeronasal 2, receptor 112

Synonyms

EG628185

MMRRC Submission

040326-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R2340 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22820129-22838114 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22822096 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 258 (V258E)

Ref Sequence

ENSEMBL: ENSMUSP00000094994 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097381]

AlphaFold

L7N221

Predicted Effect

probably damaging
Transcript: ENSMUST00000097381
AA Change: V258E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000094994
Gene: ENSMUSG00000094921
AA Change: V258E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	471	2.8e-32	PFAM
Pfam:NCD3G	512	565	5.8e-21	PFAM
Pfam:7tm_3	598	833	6.5e-54	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abca13	A	T	11: 9,349,165 (GRCm39)	I3580F	probably damaging	Het
B3glct	A	G	5: 149,668,905 (GRCm39)	K280E	probably benign	Het
Chd6	TG	T	2: 160,807,679 (GRCm39)		probably null	Het
Clu	T	C	14: 66,218,358 (GRCm39)	V406A	probably damaging	Het
D930020B18Rik	A	G	10: 121,490,741 (GRCm39)	K114E	probably damaging	Het
Dsg1c	T	A	18: 20,400,945 (GRCm39)	D149E	probably damaging	Het
Entrep2	A	G	7: 64,425,565 (GRCm39)	S176P	probably benign	Het
Fat2	A	T	11: 55,160,922 (GRCm39)	D3269E	possibly damaging	Het
Frmd4a	A	G	2: 4,591,187 (GRCm39)	D69G	probably damaging	Het
Hacd1	G	T	2: 14,040,698 (GRCm39)	P186T	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Kif2c	A	G	4: 117,027,038 (GRCm39)	V320A	probably damaging	Het
Lypd2	T	A	15: 74,606,103 (GRCm39)	I12L	probably benign	Het
Midn	G	T	10: 79,985,946 (GRCm39)	R12L	possibly damaging	Het
Or2b6	T	C	13: 21,822,757 (GRCm39)	K312R	probably benign	Het
Or8g34	A	G	9: 39,373,105 (GRCm39)	Y126C	probably damaging	Het
Or9q2	A	G	19: 13,772,135 (GRCm39)	V280A	probably benign	Het
Pkhd1	A	T	1: 20,271,079 (GRCm39)	V3158E	probably damaging	Het
Plxna2	C	T	1: 194,431,625 (GRCm39)	S538F	probably damaging	Het
Rad51d	T	C	11: 82,772,647 (GRCm39)	D206G	probably damaging	Het
Rcan1	A	G	16: 92,194,240 (GRCm39)	F58L	probably damaging	Het
Rnf145	T	C	11: 44,422,205 (GRCm39)	I96T	probably benign	Het
Rnf216	A	T	5: 143,066,089 (GRCm39)	F500I	probably damaging	Het
Rph3al	T	C	11: 75,724,258 (GRCm39)	T282A	probably benign	Het
Serpina11	T	C	12: 103,951,002 (GRCm39)	R240G	probably benign	Het
Slc12a2	T	A	18: 58,033,122 (GRCm39)	I400N	probably benign	Het
Slco1a4	C	A	6: 141,787,103 (GRCm39)	C28F	probably benign	Het
Sned1	T	A	1: 93,184,174 (GRCm39)	I134N	probably damaging	Het
Spock3	T	A	8: 63,798,747 (GRCm39)	M253K	probably damaging	Het
Tmem184b	T	A	15: 79,262,732 (GRCm39)	M42L	probably benign	Het
Tnnt1	G	A	7: 4,516,615 (GRCm39)		probably benign	Het
Ttll5	T	A	12: 85,938,922 (GRCm39)	S407T	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Zfat	T	C	15: 67,973,390 (GRCm39)	E1117G	probably damaging	Het
Zfp606	A	G	7: 12,227,016 (GRCm39)	E321G	possibly damaging	Het

Other mutations in Vmn2r112

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00341:Vmn2r112	APN	17	22,837,917 (GRCm39)	missense	probably benign	0.13
IGL01021:Vmn2r112	APN	17	22,837,885 (GRCm39)	missense	probably damaging	1.00
IGL01122:Vmn2r112	APN	17	22,821,988 (GRCm39)	missense	probably benign	0.00
IGL01360:Vmn2r112	APN	17	22,837,603 (GRCm39)	missense	probably benign	0.03
IGL01536:Vmn2r112	APN	17	22,824,136 (GRCm39)	missense	probably damaging	1.00
IGL02148:Vmn2r112	APN	17	22,838,013 (GRCm39)	missense	probably damaging	1.00
IGL02465:Vmn2r112	APN	17	22,833,975 (GRCm39)	missense	probably damaging	1.00
PIT4576001:Vmn2r112	UTSW	17	22,833,912 (GRCm39)	missense	probably benign	0.00
R0278:Vmn2r112	UTSW	17	22,821,987 (GRCm39)	missense	probably benign	0.44
R0328:Vmn2r112	UTSW	17	22,824,251 (GRCm39)	missense	probably benign	0.01
R0583:Vmn2r112	UTSW	17	22,837,930 (GRCm39)	missense	probably damaging	1.00
R0831:Vmn2r112	UTSW	17	22,833,980 (GRCm39)	missense	probably damaging	0.99
R1080:Vmn2r112	UTSW	17	22,837,980 (GRCm39)	missense	probably damaging	1.00
R1245:Vmn2r112	UTSW	17	22,822,228 (GRCm39)	missense	probably benign	0.03
R1321:Vmn2r112	UTSW	17	22,837,500 (GRCm39)	nonsense	probably null
R1381:Vmn2r112	UTSW	17	22,837,467 (GRCm39)	missense	probably damaging	1.00
R1514:Vmn2r112	UTSW	17	22,821,825 (GRCm39)	missense	probably benign	0.40
R1519:Vmn2r112	UTSW	17	22,837,884 (GRCm39)	missense	possibly damaging	0.83
R1572:Vmn2r112	UTSW	17	22,822,125 (GRCm39)	missense	possibly damaging	0.61
R1590:Vmn2r112	UTSW	17	22,833,989 (GRCm39)	critical splice donor site	probably null
R1640:Vmn2r112	UTSW	17	22,824,097 (GRCm39)	missense	probably benign	0.01
R2221:Vmn2r112	UTSW	17	22,820,214 (GRCm39)	missense	possibly damaging	0.86
R2223:Vmn2r112	UTSW	17	22,820,214 (GRCm39)	missense	possibly damaging	0.86
R2310:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R2312:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R2337:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R2339:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R2341:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R2342:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R2401:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R2860:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R2861:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R2926:Vmn2r112	UTSW	17	22,833,984 (GRCm39)	missense	possibly damaging	0.90
R3236:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R3237:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R3977:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R3979:Vmn2r112	UTSW	17	22,822,096 (GRCm39)	missense	probably damaging	0.98
R4168:Vmn2r112	UTSW	17	22,822,069 (GRCm39)	missense	probably benign	0.01
R4256:Vmn2r112	UTSW	17	22,837,393 (GRCm39)	missense	probably damaging	1.00
R4386:Vmn2r112	UTSW	17	22,820,303 (GRCm39)	missense	probably benign	0.36
R4912:Vmn2r112	UTSW	17	22,822,363 (GRCm39)	missense	probably damaging	0.99
R4947:Vmn2r112	UTSW	17	22,821,860 (GRCm39)	missense	probably benign	0.02
R5446:Vmn2r112	UTSW	17	22,837,231 (GRCm39)	missense	probably damaging	1.00
R5870:Vmn2r112	UTSW	17	22,838,004 (GRCm39)	missense	probably benign	0.00
R6351:Vmn2r112	UTSW	17	22,820,259 (GRCm39)	missense	probably benign
R6384:Vmn2r112	UTSW	17	22,824,136 (GRCm39)	missense	probably damaging	1.00
R6390:Vmn2r112	UTSW	17	22,824,230 (GRCm39)	missense	probably benign	0.01
R6401:Vmn2r112	UTSW	17	22,822,532 (GRCm39)	nonsense	probably null
R6405:Vmn2r112	UTSW	17	22,837,216 (GRCm39)	missense	probably damaging	1.00
R6620:Vmn2r112	UTSW	17	22,822,082 (GRCm39)	missense	probably benign	0.00
R6648:Vmn2r112	UTSW	17	22,837,467 (GRCm39)	missense	probably damaging	1.00
R6649:Vmn2r112	UTSW	17	22,820,160 (GRCm39)	missense	probably null	1.00
R6653:Vmn2r112	UTSW	17	22,820,160 (GRCm39)	missense	probably null	1.00
R6654:Vmn2r112	UTSW	17	22,822,450 (GRCm39)	missense	possibly damaging	0.89
R6700:Vmn2r112	UTSW	17	22,822,462 (GRCm39)	missense	possibly damaging	0.53
R6993:Vmn2r112	UTSW	17	22,822,195 (GRCm39)	missense	probably benign	0.01
R7052:Vmn2r112	UTSW	17	22,821,507 (GRCm39)	missense	probably benign
R7454:Vmn2r112	UTSW	17	22,822,288 (GRCm39)	missense	probably benign	0.00
R7763:Vmn2r112	UTSW	17	22,822,099 (GRCm39)	missense	probably damaging	1.00
R8032:Vmn2r112	UTSW	17	22,822,375 (GRCm39)	missense	probably benign	0.21
R8177:Vmn2r112	UTSW	17	22,822,594 (GRCm39)	missense	possibly damaging	0.47
R8263:Vmn2r112	UTSW	17	22,824,140 (GRCm39)	missense	probably damaging	1.00
R8395:Vmn2r112	UTSW	17	22,837,587 (GRCm39)	missense	possibly damaging	0.94
R8492:Vmn2r112	UTSW	17	22,821,470 (GRCm39)	missense	probably benign	0.03
R8889:Vmn2r112	UTSW	17	22,837,612 (GRCm39)	missense	probably damaging	1.00
R8892:Vmn2r112	UTSW	17	22,837,612 (GRCm39)	missense	probably damaging	1.00
R9246:Vmn2r112	UTSW	17	22,824,088 (GRCm39)	missense	probably benign	0.21
R9269:Vmn2r112	UTSW	17	22,820,213 (GRCm39)	missense	probably benign
R9273:Vmn2r112	UTSW	17	22,837,721 (GRCm39)	missense	probably damaging	1.00
R9288:Vmn2r112	UTSW	17	22,822,323 (GRCm39)	missense	probably damaging	1.00
R9352:Vmn2r112	UTSW	17	22,822,479 (GRCm39)	missense	probably damaging	0.98
R9406:Vmn2r112	UTSW	17	22,824,223 (GRCm39)	nonsense	probably null
R9432:Vmn2r112	UTSW	17	22,821,233 (GRCm39)	missense
R9728:Vmn2r112	UTSW	17	22,824,108 (GRCm39)	missense	probably damaging	0.96
Z1088:Vmn2r112	UTSW	17	22,824,059 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GGCCTCTGATCATACATCTCTAGC -3'
(R):5'- TTGACTGAGTTCAATGTCTGCAC -3'

Sequencing Primer
(F):5'- GATCATACATCTCTAGCCCTTGC -3'
(R):5'- CCAGAAATCTCACTATTGTGTTGTTG -3'

Posted On

2014-10-30