Mutagenetix > Incidental Mutation

Incidental Mutation 'R3081:Vmn2r88'

265454

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r88

Ensembl Gene

ENSMUSG00000000606

Gene Name

vomeronasal 2, receptor 88

Synonyms

V2r3, V2r13

MMRRC Submission

040571-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R3081 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51410819-51419527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51418632 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 775 (N775S)

Ref Sequence

ENSEMBL: ENSMUSP00000022438 (fasta)

Gene Model

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

AlphaFold

L7N1W8

Predicted Effect

probably damaging
Transcript: ENSMUST00000022438
AA Change: N775S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: N775S

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

possibly damaging
Transcript: ENSMUST00000159674
AA Change: N766S

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: N766S

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

probably benign
Transcript: ENSMUST00000163019

SMART Domains

Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000228139
AA Change: N767S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Meta Mutation Damage Score

0.6467

Coding Region Coverage

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

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	T	A	7: 97,565,225	T48S	probably benign	Het
Abcc3	T	A	11: 94,356,976	L1230F	probably damaging	Het
Abcf3	T	A	16: 20,559,364	I542N	probably benign	Het
Als2	A	G	1: 59,187,349	L932P	probably damaging	Het
Arhgap45	G	A	10: 80,026,447	R583H	probably damaging	Het
Asl	T	C	5: 130,013,404	Y277C	probably damaging	Het
Bcl9	A	T	3: 97,205,673	N1155K	possibly damaging	Het
Carm1	C	A	9: 21,579,396		probably null	Het
Cdkn2aip	T	C	8: 47,711,497	K394E	probably damaging	Het
Cfap70	A	G	14: 20,420,762	Y472H	probably damaging	Het
Cfap77	T	A	2: 28,962,650	K203N	probably damaging	Het
Cldn14	T	C	16: 93,919,304	K218R	probably damaging	Het
Coro6	T	C	11: 77,468,912	F336S	probably damaging	Het
Derl1	C	A	15: 57,875,611		probably benign	Het
Dixdc1	G	A	9: 50,710,959	A25V	probably damaging	Het
Dock2	T	A	11: 34,231,610	H1651L	probably benign	Het
Dock6	A	G	9: 21,839,200	F473L	possibly damaging	Het
Dzip3	T	C	16: 48,927,558	H1163R	probably damaging	Het
Efcab9	T	C	11: 32,523,689	D35G	probably benign	Het
Evpl	T	C	11: 116,220,852	D2004G	probably damaging	Het
Faiml	A	G	9: 99,232,474	C121R	probably damaging	Het
Fastkd3	T	C	13: 68,584,868	V436A	probably benign	Het
Fbxl5	A	G	5: 43,750,880	Y660H	probably damaging	Het
Glt8d1	T	C	14: 31,006,660	V15A	probably benign	Het
Gpr25	A	C	1: 136,259,885	I330S	possibly damaging	Het
Hdac5	A	T	11: 102,205,610	V257E	probably damaging	Het
Lama2	C	T	10: 27,001,235	E2652K	probably benign	Het
Lrriq1	T	A	10: 103,144,889	S1462C	probably damaging	Het
Mgat3	A	G	15: 80,211,854	D294G	probably benign	Het
Mylk2	A	G	2: 152,919,354	N459S	probably benign	Het
Myo3b	A	C	2: 70,256,583		probably benign	Het
Naip6	T	C	13: 100,300,453	T521A	probably benign	Het
Nfxl1	C	T	5: 72,529,035	A608T	possibly damaging	Het
Nmd3	A	G	3: 69,724,399		probably benign	Het
Nol8	C	T	13: 49,678,392		probably benign	Het
Olfr389	A	T	11: 73,777,225	M34K	probably damaging	Het
Olfr870	C	A	9: 20,170,765	G269W	probably benign	Het
Olfr901	T	A	9: 38,431,056	M258K	possibly damaging	Het
Olfr954	G	A	9: 39,461,930	M166I	probably benign	Het
Pcdhgb2	T	C	18: 37,691,513	F519S	probably damaging	Het
Phf11c	A	G	14: 59,381,484	V284A	probably benign	Het
Rasl11a	G	T	5: 146,847,303	C186F	probably benign	Het
Rps18-ps3	T	C	8: 107,262,837		noncoding transcript	Het
Rusc1	A	G	3: 89,091,723	S251P	possibly damaging	Het
Rxfp3	T	C	15: 11,037,217	E23G	probably benign	Het
Senp6	G	A	9: 80,143,842	A1134T	probably benign	Het
Slc22a4	A	G	11: 54,007,789	V159A	probably benign	Het
Spata31d1a	T	C	13: 59,703,093	N407S	probably benign	Het
Ssc4d	T	C	5: 135,965,724	T51A	possibly damaging	Het
Stip1	C	T	19: 7,035,648	A23T	probably benign	Het
Tecta	A	T	9: 42,377,994	M425K	possibly damaging	Het
Tmed4	T	C	11: 6,274,151	H115R	probably benign	Het
Tmem255b	T	A	8: 13,451,048	L74H	probably damaging	Het
Trav6n-5	A	T	14: 53,105,284	H93L	possibly damaging	Het
Tsen54	T	A	11: 115,820,164	D187E	probably benign	Het
Ttc39d	A	G	17: 80,217,553	Y547C	probably damaging	Het
Vps13a	G	T	19: 16,664,737	N2175K	probably benign	Het
Wnk4	A	G	11: 101,276,891		probably benign	Het
Zfp180	A	T	7: 24,105,503	Q449L	probably damaging	Het

Other mutations in Vmn2r88

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Vmn2r88	APN	14	51413125	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51413060	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51413256	missense	probably benign	0.00
IGL00990:Vmn2r88	APN	14	51416802	missense	possibly damaging	0.59
IGL02308:Vmn2r88	APN	14	51417980	missense	possibly damaging	0.96
IGL02481:Vmn2r88	APN	14	51414154	missense	probably benign
IGL02483:Vmn2r88	APN	14	51414154	missense	probably benign
IGL03241:Vmn2r88	APN	14	51418373	missense	probably benign	0.03
R0052:Vmn2r88	UTSW	14	51418700	missense	possibly damaging	0.88
R0070:Vmn2r88	UTSW	14	51414140	missense	probably benign	0.08
R0799:Vmn2r88	UTSW	14	51414502	missense	possibly damaging	0.61
R0906:Vmn2r88	UTSW	14	51418209	missense	probably damaging	1.00
R1322:Vmn2r88	UTSW	14	51414108	missense	probably damaging	1.00
R1352:Vmn2r88	UTSW	14	51418550	missense	probably damaging	1.00
R1639:Vmn2r88	UTSW	14	51416787	missense	probably damaging	0.98
R1780:Vmn2r88	UTSW	14	51418572	missense	probably damaging	1.00
R1834:Vmn2r88	UTSW	14	51413030	splice site	probably benign
R1911:Vmn2r88	UTSW	14	51418214	missense	probably damaging	1.00
R2113:Vmn2r88	UTSW	14	51418194	missense	probably damaging	1.00
R2120:Vmn2r88	UTSW	14	51413208	missense	probably benign	0.00
R2126:Vmn2r88	UTSW	14	51413807	missense	probably benign	0.01
R2348:Vmn2r88	UTSW	14	51414004	missense	probably benign	0.00
R2881:Vmn2r88	UTSW	14	51418689	missense	probably damaging	0.97
R2884:Vmn2r88	UTSW	14	51413934	missense	probably damaging	1.00
R3933:Vmn2r88	UTSW	14	51413978	missense	probably benign	0.44
R3967:Vmn2r88	UTSW	14	51413190	missense	probably benign	0.06
R4091:Vmn2r88	UTSW	14	51415426	missense	probably damaging	1.00
R4378:Vmn2r88	UTSW	14	51413289	nonsense	probably null
R4397:Vmn2r88	UTSW	14	51417978	missense	probably damaging	1.00
R4418:Vmn2r88	UTSW	14	51418081	missense	probably damaging	1.00
R4609:Vmn2r88	UTSW	14	51418074	missense	probably damaging	0.98
R4647:Vmn2r88	UTSW	14	51418793	missense	probably benign	0.02
R4672:Vmn2r88	UTSW	14	51418155	missense	probably damaging	1.00
R4684:Vmn2r88	UTSW	14	51413334	missense	possibly damaging	0.95
R4686:Vmn2r88	UTSW	14	51413339	missense	probably benign	0.03
R4720:Vmn2r88	UTSW	14	51413245	missense	probably benign	0.01
R5046:Vmn2r88	UTSW	14	51413181	missense	probably benign	0.03
R5063:Vmn2r88	UTSW	14	51411146	missense	probably damaging	0.96
R5619:Vmn2r88	UTSW	14	51413910	missense	probably damaging	0.99
R5652:Vmn2r88	UTSW	14	51418572	missense	probably damaging	0.98
R6020:Vmn2r88	UTSW	14	51418149	nonsense	probably null
R6103:Vmn2r88	UTSW	14	51415369	missense	probably benign	0.17
R6674:Vmn2r88	UTSW	14	51414338	missense	probably benign	0.01
R6799:Vmn2r88	UTSW	14	51413969	missense	probably benign	0.05
R7089:Vmn2r88	UTSW	14	51418643	missense
R7104:Vmn2r88	UTSW	14	51413796	missense
R7265:Vmn2r88	UTSW	14	51418319	missense
R7316:Vmn2r88	UTSW	14	51414255	missense
R7552:Vmn2r88	UTSW	14	51410858	splice site	probably null
R7611:Vmn2r88	UTSW	14	51413997	missense
R7667:Vmn2r88	UTSW	14	51417989	missense
R7682:Vmn2r88	UTSW	14	51418449	missense
R7755:Vmn2r88	UTSW	14	51413046	missense	probably benign	0.00
R7811:Vmn2r88	UTSW	14	51418703	missense
R7882:Vmn2r88	UTSW	14	51413046	missense	probably benign	0.00
R7957:Vmn2r88	UTSW	14	51413132	missense
R7998:Vmn2r88	UTSW	14	51414108	missense
R8142:Vmn2r88	UTSW	14	51414107	missense
R8186:Vmn2r88	UTSW	14	51418700	missense
R8348:Vmn2r88	UTSW	14	51418796	missense	probably damaging	0.97
R8448:Vmn2r88	UTSW	14	51418796	missense	probably damaging	0.97
R8483:Vmn2r88	UTSW	14	51413073	missense	possibly damaging	0.48
R8783:Vmn2r88	UTSW	14	51414066	missense
R8859:Vmn2r88	UTSW	14	51418806	missense	probably damaging	0.97
R8916:Vmn2r88	UTSW	14	51411136	missense
R8936:Vmn2r88	UTSW	14	51418526	missense	possibly damaging	0.88
R9004:Vmn2r88	UTSW	14	51413167	missense
R9038:Vmn2r88	UTSW	14	51414033	missense
R9063:Vmn2r88	UTSW	14	51410872	start gained	probably benign
R9311:Vmn2r88	UTSW	14	51413046	missense	probably benign	0.00
R9382:Vmn2r88	UTSW	14	51418740	missense
R9483:Vmn2r88	UTSW	14	51411184	missense
R9602:Vmn2r88	UTSW	14	51413732	missense
V5622:Vmn2r88	UTSW	14	51413127	missense	probably benign
X0024:Vmn2r88	UTSW	14	51413832	missense	possibly damaging	0.79
X0025:Vmn2r88	UTSW	14	51416802	missense	possibly damaging	0.59
Z1177:Vmn2r88	UTSW	14	51418046	frame shift	probably null
Z1177:Vmn2r88	UTSW	14	51418187	missense
Z1190:Vmn2r88	UTSW	14	51413201	missense

Predicted Primers

PCR Primer
(F):5'- TCACTACTCCAGGAAGAAGAATG -3'
(R):5'- TGGGACAAAGATACACATTAGCAAC -3'

Sequencing Primer
(F):5'- GGCACCTAAGTTGGTCATTCC -3'
(R):5'- CCCTGCACTAGAAGCCAAGATTG -3'

Posted On

2015-02-05