Mutagenetix > Incidental Mutation

Incidental Mutation 'R5046:Vmn2r88'

394393

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r88

Ensembl Gene

ENSMUSG00000000606

Gene Name

vomeronasal 2, receptor 88

Synonyms

V2r13, V2r3

MMRRC Submission

042636-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.110) question?

Stock #

R5046 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51648458-51656984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51650638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 117 (D117G)

Ref Sequence

ENSEMBL: ENSMUSP00000022438 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022438] [ENSMUST00000159674] [ENSMUST00000162998] [ENSMUST00000228139]

AlphaFold

L7N1W8

Predicted Effect

probably benign
Transcript: ENSMUST00000022438
AA Change: D117G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: D117G

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:ANF_receptor	76	457	8.3e-27	PFAM
Pfam:NCD3G	516	570	1.2e-18	PFAM
Pfam:7tm_3	603	838	1.9e-55	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000159674
AA Change: D117G

SMART Domains

Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: D117G

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	30	408	3.2e-30	PFAM
Pfam:NCD3G	463	516	1.2e-19	PFAM
Pfam:7tm_3	546	785	3.7e-81	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161565

Predicted Effect

probably benign
Transcript: ENSMUST00000162998

SMART Domains

Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399

Domain	Start	End	E-Value	Type
Pfam:Takusan	35	115	2.2e-25	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000163019
AA Change: D92G

SMART Domains

Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: D92G

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	52	399	3.7e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000228139
AA Change: D117G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm4	C	A	7: 119,302,597 (GRCm39)	H241N	probably damaging	Het
Arhgap32	G	A	9: 32,168,095 (GRCm39)	A693T	probably damaging	Het
B4galnt3	G	T	6: 120,191,759 (GRCm39)	A658D	probably damaging	Het
Car12	G	A	9: 66,653,895 (GRCm39)	E84K	probably benign	Het
Crocc2	T	A	1: 93,133,624 (GRCm39)	S969T	probably damaging	Het
Crym	A	G	7: 119,794,667 (GRCm39)	V184A	possibly damaging	Het
Cryzl2	T	C	1: 157,292,583 (GRCm39)	C122R	probably damaging	Het
Defb30	T	C	14: 63,273,463 (GRCm39)	E49G	probably benign	Het
Dnah3	A	G	7: 119,550,803 (GRCm39)	L3161P	probably damaging	Het
Dnajc5g	A	G	5: 31,267,036 (GRCm39)	N104S	probably benign	Het
Fcgr1	T	G	3: 96,194,302 (GRCm39)	K195T	probably damaging	Het
Gal	C	T	19: 3,461,167 (GRCm39)	R89H	probably damaging	Het
Gcfc2	C	T	6: 81,925,316 (GRCm39)	A577V	probably benign	Het
Gm5116	A	C	7: 32,195,379 (GRCm39)		noncoding transcript	Het
Golga3	A	T	5: 110,340,806 (GRCm39)	Q540L	probably damaging	Het
Hectd1	T	C	12: 51,797,171 (GRCm39)	E2184G	probably damaging	Het
Hspa12a	T	C	19: 58,787,977 (GRCm39)	D615G	probably damaging	Het
Igkv14-130	A	T	6: 67,768,465 (GRCm39)	Y107F	probably damaging	Het
Ldlr	T	A	9: 21,657,203 (GRCm39)		probably null	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrrc37a	A	T	11: 103,389,066 (GRCm39)	S2120T	unknown	Het
Mtfmt	G	T	9: 65,346,897 (GRCm39)	V164F	probably damaging	Het
Nampt	T	C	12: 32,883,037 (GRCm39)	V74A	probably damaging	Het
Ndufc2	G	T	7: 97,056,871 (GRCm39)	R120L	probably damaging	Het
Neo1	A	T	9: 58,801,194 (GRCm39)	V1156D	possibly damaging	Het
Nlrp1b	G	A	11: 71,050,898 (GRCm39)	P1065S	possibly damaging	Het
Nop9	A	G	14: 55,983,397 (GRCm39)	H56R	possibly damaging	Het
Or4k41	A	T	2: 111,279,934 (GRCm39)	T150S	probably benign	Het
Or6c75	A	T	10: 129,337,178 (GRCm39)	M142L	possibly damaging	Het
Pign	A	T	1: 105,449,798 (GRCm39)	N909K	possibly damaging	Het
Prex1	A	G	2: 166,414,883 (GRCm39)	V304A	probably benign	Het
Racgap1	G	A	15: 99,526,643 (GRCm39)	R307W	probably damaging	Het
Rap1gds1	C	A	3: 138,661,181 (GRCm39)	E399*	probably null	Het
Rwdd4a	G	A	8: 47,995,837 (GRCm39)		probably null	Het
Sanbr	A	C	11: 23,570,354 (GRCm39)	M182R	probably benign	Het
Scp2	T	C	4: 107,928,488 (GRCm39)	T401A	probably benign	Het
Sdha	A	G	13: 74,475,452 (GRCm39)	F526S	probably damaging	Het
Shroom1	T	A	11: 53,354,872 (GRCm39)	L264Q	probably benign	Het
Sorl1	T	C	9: 41,907,590 (GRCm39)	T1466A	probably benign	Het
Trpm2	C	T	10: 77,801,852 (GRCm39)	C71Y	probably damaging	Het
Ugt2b34	G	A	5: 87,052,246 (GRCm39)	S250L	probably benign	Het
Wdr73	A	T	7: 80,542,173 (GRCm39)		probably benign	Het

Other mutations in Vmn2r88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Vmn2r88	APN	14	51,650,713 (GRCm39)	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51,650,517 (GRCm39)	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51,650,582 (GRCm39)	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51,654,259 (GRCm39)	missense	possibly damaging	0.59
IGL02308:Vmn2r88	APN	14	51,655,437 (GRCm39)	missense	possibly damaging	0.96
IGL02481:Vmn2r88	APN	14	51,651,611 (GRCm39)	missense	probably benign
IGL02483:Vmn2r88	APN	14	51,651,611 (GRCm39)	missense	probably benign
IGL03241:Vmn2r88	APN	14	51,655,830 (GRCm39)	missense	probably benign	0.03
R0052:Vmn2r88	UTSW	14	51,656,157 (GRCm39)	missense	possibly damaging	0.88
R0070:Vmn2r88	UTSW	14	51,651,597 (GRCm39)	missense	probably benign	0.08
R0799:Vmn2r88	UTSW	14	51,651,959 (GRCm39)	missense	possibly damaging	0.61
R0906:Vmn2r88	UTSW	14	51,655,666 (GRCm39)	missense	probably damaging	1.00
R1322:Vmn2r88	UTSW	14	51,651,565 (GRCm39)	missense	probably damaging	1.00
R1352:Vmn2r88	UTSW	14	51,656,007 (GRCm39)	missense	probably damaging	1.00
R1639:Vmn2r88	UTSW	14	51,654,244 (GRCm39)	missense	probably damaging	0.98
R1780:Vmn2r88	UTSW	14	51,656,029 (GRCm39)	missense	probably damaging	1.00
R1834:Vmn2r88	UTSW	14	51,650,487 (GRCm39)	splice site	probably benign
R1911:Vmn2r88	UTSW	14	51,655,671 (GRCm39)	missense	probably damaging	1.00
R2113:Vmn2r88	UTSW	14	51,655,651 (GRCm39)	missense	probably damaging	1.00
R2120:Vmn2r88	UTSW	14	51,650,665 (GRCm39)	missense	probably benign	0.00
R2126:Vmn2r88	UTSW	14	51,651,264 (GRCm39)	missense	probably benign	0.01
R2348:Vmn2r88	UTSW	14	51,651,461 (GRCm39)	missense	probably benign	0.00
R2881:Vmn2r88	UTSW	14	51,656,146 (GRCm39)	missense	probably damaging	0.97
R2884:Vmn2r88	UTSW	14	51,651,391 (GRCm39)	missense	probably damaging	1.00
R3081:Vmn2r88	UTSW	14	51,656,089 (GRCm39)	missense	probably damaging	0.99
R3933:Vmn2r88	UTSW	14	51,651,435 (GRCm39)	missense	probably benign	0.44
R3967:Vmn2r88	UTSW	14	51,650,647 (GRCm39)	missense	probably benign	0.06
R4091:Vmn2r88	UTSW	14	51,652,883 (GRCm39)	missense	probably damaging	1.00
R4378:Vmn2r88	UTSW	14	51,650,746 (GRCm39)	nonsense	probably null
R4397:Vmn2r88	UTSW	14	51,655,435 (GRCm39)	missense	probably damaging	1.00
R4418:Vmn2r88	UTSW	14	51,655,538 (GRCm39)	missense	probably damaging	1.00
R4609:Vmn2r88	UTSW	14	51,655,531 (GRCm39)	missense	probably damaging	0.98
R4647:Vmn2r88	UTSW	14	51,656,250 (GRCm39)	missense	probably benign	0.02
R4672:Vmn2r88	UTSW	14	51,655,612 (GRCm39)	missense	probably damaging	1.00
R4684:Vmn2r88	UTSW	14	51,650,791 (GRCm39)	missense	possibly damaging	0.95
R4686:Vmn2r88	UTSW	14	51,650,796 (GRCm39)	missense	probably benign	0.03
R4720:Vmn2r88	UTSW	14	51,650,702 (GRCm39)	missense	probably benign	0.01
R5063:Vmn2r88	UTSW	14	51,648,603 (GRCm39)	missense	probably damaging	0.96
R5619:Vmn2r88	UTSW	14	51,651,367 (GRCm39)	missense	probably damaging	0.99
R5652:Vmn2r88	UTSW	14	51,656,029 (GRCm39)	missense	probably damaging	0.98
R6020:Vmn2r88	UTSW	14	51,655,606 (GRCm39)	nonsense	probably null
R6103:Vmn2r88	UTSW	14	51,652,826 (GRCm39)	missense	probably benign	0.17
R6674:Vmn2r88	UTSW	14	51,651,795 (GRCm39)	missense	probably benign	0.01
R6799:Vmn2r88	UTSW	14	51,651,426 (GRCm39)	missense	probably benign	0.05
R7089:Vmn2r88	UTSW	14	51,656,100 (GRCm39)	missense
R7104:Vmn2r88	UTSW	14	51,651,253 (GRCm39)	missense
R7265:Vmn2r88	UTSW	14	51,655,776 (GRCm39)	missense
R7316:Vmn2r88	UTSW	14	51,651,712 (GRCm39)	missense
R7552:Vmn2r88	UTSW	14	51,648,315 (GRCm39)	splice site	probably null
R7611:Vmn2r88	UTSW	14	51,651,454 (GRCm39)	missense
R7667:Vmn2r88	UTSW	14	51,655,446 (GRCm39)	missense
R7682:Vmn2r88	UTSW	14	51,655,906 (GRCm39)	missense
R7755:Vmn2r88	UTSW	14	51,650,503 (GRCm39)	missense	probably benign	0.00
R7811:Vmn2r88	UTSW	14	51,656,160 (GRCm39)	missense
R7882:Vmn2r88	UTSW	14	51,650,503 (GRCm39)	missense	probably benign	0.00
R7957:Vmn2r88	UTSW	14	51,650,589 (GRCm39)	missense
R7998:Vmn2r88	UTSW	14	51,651,565 (GRCm39)	missense
R8142:Vmn2r88	UTSW	14	51,651,564 (GRCm39)	missense
R8186:Vmn2r88	UTSW	14	51,656,157 (GRCm39)	missense
R8348:Vmn2r88	UTSW	14	51,656,253 (GRCm39)	missense	probably damaging	0.97
R8448:Vmn2r88	UTSW	14	51,656,253 (GRCm39)	missense	probably damaging	0.97
R8483:Vmn2r88	UTSW	14	51,650,530 (GRCm39)	missense	possibly damaging	0.48
R8783:Vmn2r88	UTSW	14	51,651,523 (GRCm39)	missense
R8859:Vmn2r88	UTSW	14	51,656,263 (GRCm39)	missense	probably damaging	0.97
R8916:Vmn2r88	UTSW	14	51,648,593 (GRCm39)	missense
R8936:Vmn2r88	UTSW	14	51,655,983 (GRCm39)	missense	possibly damaging	0.88
R9004:Vmn2r88	UTSW	14	51,650,624 (GRCm39)	missense
R9038:Vmn2r88	UTSW	14	51,651,490 (GRCm39)	missense
R9063:Vmn2r88	UTSW	14	51,648,329 (GRCm39)	start gained	probably benign
R9311:Vmn2r88	UTSW	14	51,650,503 (GRCm39)	missense	probably benign	0.00
R9382:Vmn2r88	UTSW	14	51,656,197 (GRCm39)	missense
R9483:Vmn2r88	UTSW	14	51,648,641 (GRCm39)	missense
R9602:Vmn2r88	UTSW	14	51,651,189 (GRCm39)	missense
V5622:Vmn2r88	UTSW	14	51,650,584 (GRCm39)	missense	probably benign
X0024:Vmn2r88	UTSW	14	51,651,289 (GRCm39)	missense	possibly damaging	0.79
X0025:Vmn2r88	UTSW	14	51,654,259 (GRCm39)	missense	possibly damaging	0.59
Z1177:Vmn2r88	UTSW	14	51,655,644 (GRCm39)	missense
Z1177:Vmn2r88	UTSW	14	51,655,503 (GRCm39)	frame shift	probably null
Z1190:Vmn2r88	UTSW	14	51,650,658 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- GATCCCTGTGCTCAGACAAC -3'
(R):5'- GCACACTCACAAATGTGTTCTC -3'

Sequencing Primer
(F):5'- AAAATAATTAGTCTGGCTGTGCGG -3'
(R):5'- TTTCTTGTAGGCACCTATAAATGC -3'

Posted On

2016-06-15