Mutagenetix > Incidental Mutation

Incidental Mutation 'R0070:Vmn2r88'

67060

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r88

Ensembl Gene

ENSMUSG00000000606

Gene Name

vomeronasal 2, receptor 88

Synonyms

V2r3, V2r13

MMRRC Submission

038361-MU

Accession Numbers

Essential gene?

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

Stock #

R0070 (G1)

Quality Score

112

Status

Validated

Chromosome

Chromosomal Location

51410819-51419527 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51414140 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 312 (T312S)

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: T312S

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000022438
Gene: ENSMUSG00000000606
AA Change: T312S

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: T304S

SMART Domains

Protein: ENSMUSP00000125126
Gene: ENSMUSG00000000606
AA Change: T304S

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: T279S

SMART Domains

Protein: ENSMUSP00000124837
Gene: ENSMUSG00000000606
AA Change: T279S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000228139
AA Change: T304S

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (68/70)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre4	T	C	17: 55,802,154	I387T	probably damaging	Het
Alpi	A	G	1: 87,101,159		probably benign	Het
Ankfn1	A	T	11: 89,392,302	L173Q	probably damaging	Het
Atp2a1	T	C	7: 126,447,452	E892G	probably benign	Het
AU018091	T	C	7: 3,158,898		probably null	Het
Capn12	T	C	7: 28,889,126		probably benign	Het
Capn2	C	A	1: 182,473,869		probably benign	Het
Cd79b	A	G	11: 106,311,918		probably benign	Het
Cdh7	C	T	1: 110,098,372	A446V	probably benign	Het
Ciapin1	T	C	8: 94,825,219	N246S	possibly damaging	Het
Cmip	T	A	8: 117,426,554	I270N	probably damaging	Het
Cyp2d40	A	G	15: 82,760,774	V225A	unknown	Het
Dnah9	A	G	11: 66,160,040	V142A	probably benign	Het
Fam126a	T	C	5: 23,964,999	S451G	probably damaging	Het
Flt3	A	G	5: 147,372,726		probably benign	Het
Gm10238	A	G	15: 75,237,585		noncoding transcript	Het
Gm4787	T	A	12: 81,379,066	D106V	probably damaging	Het
Hipk2	G	A	6: 38,818,984	R117*	probably null	Het
Ifna11	A	G	4: 88,820,275	D106G	possibly damaging	Het
Igkv1-115	G	A	6: 68,161,418	V2I	probably benign	Het
Itga6	T	C	2: 71,826,716		probably benign	Het
Kcnj6	C	A	16: 94,941,197	K5N	probably benign	Het
Kcnt1	T	C	2: 25,892,362	V191A	probably benign	Het
Lcorl	G	A	5: 45,733,701	R437C	probably damaging	Het
Man2a1	G	A	17: 64,659,079		probably null	Het
Map3k14	T	A	11: 103,239,554		probably null	Het
Mtch1	T	A	17: 29,340,059		probably benign	Het
Myo1c	A	G	11: 75,660,250	N217S	probably benign	Het
Olfr132	A	G	17: 38,130,889	L101P	probably damaging	Het
Olfr1362	T	C	13: 21,611,261	K236R	possibly damaging	Het
Orm3	A	G	4: 63,356,646	T64A	probably benign	Het
Phf20l1	T	G	15: 66,639,991	W940G	probably damaging	Het
Phldb1	C	T	9: 44,707,904	R844H	probably damaging	Het
Piezo2	T	C	18: 63,102,084	D814G	probably damaging	Het
Pkd2	T	C	5: 104,466,990	C233R	probably damaging	Het
Prkd3	A	G	17: 78,954,510	Y792H	probably damaging	Het
Pth1r	A	T	9: 110,727,550		probably null	Het
Pxdn	T	C	12: 29,982,727	L146S	probably damaging	Het
Rnf32	A	G	5: 29,225,127	T315A	probably benign	Het
Rpl5	T	C	5: 107,901,900	Y12H	probably benign	Het
Serpinh1	A	T	7: 99,349,314	S36R	probably damaging	Het
Setx	A	T	2: 29,161,525	T2030S	probably benign	Het
Sf3a3	G	A	4: 124,714,955	V21I	probably benign	Het
Sin3b	T	A	8: 72,725,582	H105Q	probably damaging	Het
Slitrk1	T	C	14: 108,913,317		probably benign	Het
Slx4	A	T	16: 3,988,016	D557E	possibly damaging	Het
Sprr3	C	T	3: 92,457,302	M78I	probably benign	Het
Ssmem1	A	G	6: 30,519,421	E35G	possibly damaging	Het
Stag1	C	T	9: 100,956,408	P1238S	probably null	Het
Stra6	C	T	9: 58,152,615		probably benign	Het
Tmem127	T	C	2: 127,257,059	V171A	probably damaging	Het
Tmem150a	A	G	6: 72,358,759		probably null	Het
Top2a	C	G	11: 99,015,060		probably null	Het
Ttn	T	C	2: 76,814,427		probably null	Het
Tusc3	G	A	8: 39,063,267	G129R	possibly damaging	Het
Uspl1	A	G	5: 149,209,705	Y422C	probably damaging	Het
Wdr78	A	T	4: 103,059,934	I571K	probably damaging	Het
Zc3hav1l	A	T	6: 38,295,190	S215T	probably damaging	Het
Zfp947	T	A	17: 22,146,184	T170S	probably benign	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
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
R3081:Vmn2r88	UTSW	14	51418632	missense	probably damaging	0.99
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'- AGTAGCCACCAAGGACACACATTTG -3'
(R):5'- TGTGGGCCACAGCATAAACAGC -3'

Sequencing Primer
(F):5'- GACAAGGGTATTCAGTTTCTCTCAG -3'
(R):5'- AGTGCTGTCCATTCCAATGTG -3'

Posted On

2013-08-20