Mutagenetix > Incidental Mutation

Incidental Mutation 'R4578:Vmn2r52'

343408

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r52

Ensembl Gene

ENSMUSG00000091930

Gene Name

vomeronasal 2, receptor 52

Synonyms

EG384534

MMRRC Submission

041800-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4578 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

9892579-9910213 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 9904617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 407 (H407Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129352 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164918]

AlphaFold

L7N2B2

Predicted Effect

probably damaging
Transcript: ENSMUST00000164918
AA Change: H407Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129352
Gene: ENSMUSG00000091930
AA Change: H407Q

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	469	8.1e-29	PFAM
Pfam:NCD3G	512	565	1.5e-19	PFAM
Pfam:7tm_3	596	833	1.1e-55	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,884,537 (GRCm39)	Y440*	probably null	Het
Aldh3b3	A	T	19: 4,014,832 (GRCm39)	T110S	probably benign	Het
Atp2b2	T	C	6: 113,737,672 (GRCm39)	T901A	probably damaging	Het
Auts2	C	T	5: 132,287,773 (GRCm39)	G70E	probably benign	Het
Bfar	A	T	16: 13,505,307 (GRCm39)	I106F	probably benign	Het
Btbd10	T	G	7: 112,921,959 (GRCm39)	I301L	possibly damaging	Het
Card14	G	A	11: 119,217,567 (GRCm39)	R400H	probably benign	Het
Ccdc80	A	G	16: 44,915,849 (GRCm39)	R202G	probably damaging	Het
Cimip2a	T	C	2: 25,110,300 (GRCm39)	S71P	probably benign	Het
Cmtm7	A	C	9: 114,592,351 (GRCm39)	I82S	probably benign	Het
Cngb3	T	A	4: 19,425,613 (GRCm39)	W474R	probably damaging	Het
Coq9	T	C	8: 95,580,234 (GRCm39)	V285A	probably benign	Het
Cp	A	G	3: 20,028,052 (GRCm39)	E486G	probably damaging	Het
Crybg3	C	T	16: 59,350,564 (GRCm39)	C892Y	probably damaging	Het
Cttn	A	T	7: 144,008,453 (GRCm39)	F176L	probably damaging	Het
Cytip	T	A	2: 58,050,024 (GRCm39)	N15I	possibly damaging	Het
Dgkb	A	G	12: 38,477,492 (GRCm39)	E634G	possibly damaging	Het
Duox1	A	G	2: 122,164,258 (GRCm39)	E906G	probably benign	Het
Efcab6	A	T	15: 83,817,369 (GRCm39)	S735T	probably benign	Het
Elfn1	T	C	5: 139,957,808 (GRCm39)	S271P	probably benign	Het
Ep300	T	C	15: 81,533,210 (GRCm39)	S1756P	unknown	Het
Ep300	T	A	15: 81,495,611 (GRCm39)		probably benign	Het
Ercc5	T	A	1: 44,187,308 (GRCm39)	V29E	probably benign	Het
Frmd4a	C	A	2: 4,608,490 (GRCm39)	A786E	possibly damaging	Het
Ftcd	A	C	10: 76,425,092 (GRCm39)	E524D	probably benign	Het
Gfod2	T	C	8: 106,454,878 (GRCm39)	M1V	probably null	Het
Gm12790	T	C	4: 101,825,324 (GRCm39)	D30G	probably benign	Het
Gsta4	A	T	9: 78,113,302 (GRCm39)	R127S	probably benign	Het
Hcn2	G	A	10: 79,560,282 (GRCm39)		probably null	Het
Hectd1	A	G	12: 51,798,715 (GRCm39)	V2135A	probably damaging	Het
Hoxc6	A	G	15: 102,918,093 (GRCm39)	D19G	probably benign	Het
Hydin	A	T	8: 110,993,971 (GRCm39)	T2S	unknown	Het
Ifna14	A	T	4: 88,489,747 (GRCm39)	S97T	possibly damaging	Het
Igkv17-127	T	C	6: 67,838,183 (GRCm39)	L14P	unknown	Het
Il17rb	A	G	14: 29,724,356 (GRCm39)	V166A	probably damaging	Het
Iqca1	T	A	1: 90,001,472 (GRCm39)	I520F	probably damaging	Het
Kcnv2	G	T	19: 27,300,994 (GRCm39)	V282L	probably benign	Het
Klk12	A	G	7: 43,422,667 (GRCm39)	D198G	probably damaging	Het
Kntc1	T	G	5: 123,904,018 (GRCm39)	L345R	probably damaging	Het
Lrfn5	A	G	12: 61,890,763 (GRCm39)	D684G	probably benign	Het
Mef2a	T	C	7: 66,890,187 (GRCm39)	N131S	probably benign	Het
Mis18bp1	T	C	12: 65,200,655 (GRCm39)	Y124C	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Myh2	T	A	11: 67,064,084 (GRCm39)	V48D	possibly damaging	Het
Nat10	A	G	2: 103,584,417 (GRCm39)	M120T	probably damaging	Het
Nf1	T	C	11: 79,336,585 (GRCm39)	S1065P	probably damaging	Het
Nfib	A	T	4: 82,215,048 (GRCm39)	S518R	probably damaging	Het
Pced1a	A	C	2: 130,264,596 (GRCm39)	L78R	probably damaging	Het
Peli3	T	C	19: 4,984,486 (GRCm39)	D192G	probably benign	Het
Plb1	C	T	5: 32,404,901 (GRCm39)	Q20*	probably null	Het
Pomgnt2	G	A	9: 121,812,131 (GRCm39)	R217C	probably damaging	Het
Ptprd	C	T	4: 76,162,023 (GRCm39)	V78I	possibly damaging	Het
Rngtt	A	G	4: 33,339,050 (GRCm39)	E285G	probably benign	Het
Sclt1	G	A	3: 41,625,900 (GRCm39)	Q356*	probably null	Het
Scn2b	T	C	9: 45,037,460 (GRCm39)	F169S	possibly damaging	Het
Sfta2	C	T	17: 35,960,775 (GRCm39)		probably benign	Het
Srpra	T	C	9: 35,125,904 (GRCm39)	I394T	possibly damaging	Het
Sspo	A	C	6: 48,440,307 (GRCm39)	D1541A	possibly damaging	Het
Strc	G	A	2: 121,208,484 (GRCm39)	L296F	possibly damaging	Het
Svop	C	T	5: 114,203,743 (GRCm39)	V13M	probably damaging	Het
Taf6l	C	A	19: 8,761,335 (GRCm39)	R10L	possibly damaging	Het
Tbx3	G	T	5: 119,820,841 (GRCm39)	R617L	probably damaging	Het
Tnrc6a	A	G	7: 122,783,444 (GRCm39)	R1471G	possibly damaging	Het
Togaram1	T	C	12: 65,067,100 (GRCm39)	L1714P	probably damaging	Het
Traf3ip2	A	G	10: 39,510,650 (GRCm39)	N308D	probably damaging	Het
Trim30b	T	C	7: 104,006,538 (GRCm39)	Y106C	possibly damaging	Het
Vcp	A	T	4: 42,984,565 (GRCm39)	M442K	probably benign	Het
Vmn2r16	A	T	5: 109,511,665 (GRCm39)	Y624F	possibly damaging	Het
Vps13a	A	T	19: 16,659,474 (GRCm39)	D1684E	probably damaging	Het
Wdr49	T	C	3: 75,242,550 (GRCm39)	M380V	probably benign	Het

Other mutations in Vmn2r52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Vmn2r52	APN	7	9,903,023 (GRCm39)	missense	probably benign	0.30
IGL00328:Vmn2r52	APN	7	9,905,344 (GRCm39)	missense	probably benign	0.12
IGL00980:Vmn2r52	APN	7	9,905,017 (GRCm39)	missense	probably damaging	1.00
IGL01468:Vmn2r52	APN	7	9,892,868 (GRCm39)	missense	probably damaging	1.00
IGL01660:Vmn2r52	APN	7	9,893,107 (GRCm39)	missense	probably damaging	0.97
IGL02215:Vmn2r52	APN	7	9,905,029 (GRCm39)	missense	probably damaging	0.97
IGL03030:Vmn2r52	APN	7	9,892,799 (GRCm39)	missense	probably benign	0.12
IGL03212:Vmn2r52	APN	7	9,893,474 (GRCm39)	missense	possibly damaging	0.47
FR4589:Vmn2r52	UTSW	7	9,892,947 (GRCm39)	missense	probably damaging	0.97
PIT4283001:Vmn2r52	UTSW	7	9,904,756 (GRCm39)	missense	possibly damaging	0.89
R0184:Vmn2r52	UTSW	7	9,893,265 (GRCm39)	missense	probably damaging	1.00
R0190:Vmn2r52	UTSW	7	9,905,315 (GRCm39)	missense	probably benign	0.00
R0240:Vmn2r52	UTSW	7	9,893,327 (GRCm39)	missense	probably damaging	0.99
R0240:Vmn2r52	UTSW	7	9,893,327 (GRCm39)	missense	probably damaging	0.99
R0257:Vmn2r52	UTSW	7	9,904,982 (GRCm39)	nonsense	probably null
R0310:Vmn2r52	UTSW	7	9,893,393 (GRCm39)	missense	probably damaging	1.00
R1831:Vmn2r52	UTSW	7	9,893,415 (GRCm39)	missense	probably damaging	1.00
R1862:Vmn2r52	UTSW	7	9,907,333 (GRCm39)	missense	possibly damaging	0.94
R2484:Vmn2r52	UTSW	7	9,903,058 (GRCm39)	missense	probably damaging	0.96
R2510:Vmn2r52	UTSW	7	9,904,795 (GRCm39)	missense	probably benign
R3625:Vmn2r52	UTSW	7	9,893,105 (GRCm39)	missense	probably damaging	1.00
R3803:Vmn2r52	UTSW	7	9,907,439 (GRCm39)	missense	probably damaging	1.00
R4013:Vmn2r52	UTSW	7	9,904,603 (GRCm39)	missense	probably benign	0.00
R4283:Vmn2r52	UTSW	7	9,904,565 (GRCm39)	missense	possibly damaging	0.60
R4324:Vmn2r52	UTSW	7	9,904,940 (GRCm39)	missense	possibly damaging	0.94
R4806:Vmn2r52	UTSW	7	9,893,169 (GRCm39)	missense	probably damaging	1.00
R5083:Vmn2r52	UTSW	7	9,893,392 (GRCm39)	nonsense	probably null
R5249:Vmn2r52	UTSW	7	9,910,197 (GRCm39)	missense	probably benign
R5306:Vmn2r52	UTSW	7	9,904,672 (GRCm39)	missense	possibly damaging	0.88
R5332:Vmn2r52	UTSW	7	9,903,052 (GRCm39)	missense	probably benign	0.17
R5617:Vmn2r52	UTSW	7	9,904,861 (GRCm39)	missense	probably damaging	0.99
R5643:Vmn2r52	UTSW	7	9,905,059 (GRCm39)	missense	probably damaging	1.00
R5749:Vmn2r52	UTSW	7	9,892,959 (GRCm39)	missense	probably damaging	1.00
R5763:Vmn2r52	UTSW	7	9,905,231 (GRCm39)	missense	probably benign	0.01
R6103:Vmn2r52	UTSW	7	9,905,327 (GRCm39)	missense	probably benign	0.36
R6148:Vmn2r52	UTSW	7	9,905,090 (GRCm39)	missense	probably benign	0.00
R6356:Vmn2r52	UTSW	7	9,902,926 (GRCm39)	missense	probably benign	0.01
R6412:Vmn2r52	UTSW	7	9,904,936 (GRCm39)	missense	probably benign
R6657:Vmn2r52	UTSW	7	9,893,090 (GRCm39)	missense	probably damaging	0.99
R6997:Vmn2r52	UTSW	7	9,902,998 (GRCm39)	missense	probably benign	0.06
R7395:Vmn2r52	UTSW	7	9,904,744 (GRCm39)	missense	probably benign	0.00
R7621:Vmn2r52	UTSW	7	9,907,274 (GRCm39)	missense	probably benign	0.00
R7691:Vmn2r52	UTSW	7	9,893,109 (GRCm39)	missense	probably damaging	0.97
R7852:Vmn2r52	UTSW	7	9,892,895 (GRCm39)	missense	probably damaging	1.00
R7908:Vmn2r52	UTSW	7	9,896,877 (GRCm39)	missense	probably benign
R7909:Vmn2r52	UTSW	7	9,896,877 (GRCm39)	missense	probably benign
R7912:Vmn2r52	UTSW	7	9,896,877 (GRCm39)	missense	probably benign
R7913:Vmn2r52	UTSW	7	9,896,877 (GRCm39)	missense	probably benign
R7938:Vmn2r52	UTSW	7	9,893,300 (GRCm39)	missense	probably benign	0.12
R8884:Vmn2r52	UTSW	7	9,892,734 (GRCm39)	missense	probably damaging	1.00
R9003:Vmn2r52	UTSW	7	9,905,181 (GRCm39)	missense	probably benign	0.07
R9140:Vmn2r52	UTSW	7	9,892,643 (GRCm39)	missense	probably damaging	0.99
R9141:Vmn2r52	UTSW	7	9,905,331 (GRCm39)	nonsense	probably null
R9500:Vmn2r52	UTSW	7	9,905,281 (GRCm39)	missense	probably damaging	1.00
R9562:Vmn2r52	UTSW	7	9,893,476 (GRCm39)	missense	probably benign	0.22
R9564:Vmn2r52	UTSW	7	9,905,182 (GRCm39)	missense	probably benign	0.15
R9565:Vmn2r52	UTSW	7	9,893,476 (GRCm39)	missense	probably benign	0.22
R9597:Vmn2r52	UTSW	7	9,904,719 (GRCm39)	nonsense	probably null
R9743:Vmn2r52	UTSW	7	9,904,606 (GRCm39)	missense	possibly damaging	0.81
Z1176:Vmn2r52	UTSW	7	9,905,127 (GRCm39)	missense	probably damaging	0.97
Z1177:Vmn2r52	UTSW	7	9,903,117 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- CCCCGAAATTTTCATCGATAATCTG -3'
(R):5'- CATTTCTAGTAATGCCAGAGTGG -3'

Sequencing Primer
(F):5'- CTGAGAGACACTAAACAGCT -3'
(R):5'- GCCAGAGTGGAAATATTTTAACTGTG -3'

Posted On

2015-09-24