Mutagenetix > Incidental Mutations

Incidental Mutation 'R8747:Vmn1r52'

663599

Institutional Source

Beutler Lab

Gene Symbol

Vmn1r52

Ensembl Gene

ENSMUSG00000060816

Gene Name

vomeronasal 1 receptor 52

Synonyms

V1ra7, VN3

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8747 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90174808-90181248 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90179469 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 252 (T252A)

Ref Sequence

ENSEMBL: ENSMUSP00000078760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079832] [ENSMUST00000226520] [ENSMUST00000227100] [ENSMUST00000227578] [ENSMUST00000227893] [ENSMUST00000228385] [ENSMUST00000228394] [ENSMUST00000228665]

Predicted Effect

probably benign
Transcript: ENSMUST00000079832
AA Change: T252A

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078760
Gene: ENSMUSG00000060816
AA Change: T252A

Domain	Start	End	E-Value	Type
Pfam:V1R	38	302	1e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226520
AA Change: T252A

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227100
AA Change: T52A

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227578
AA Change: T73A

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000227893
AA Change: T252A

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228385
AA Change: T64A

PolyPhen 2 Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)

Predicted Effect

probably benign
Transcript: ENSMUST00000228394
AA Change: T252A

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000228665
AA Change: T252A

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700109H08Rik	A	G	5: 3,582,240	D190G	probably benign	Het
8430408G22Rik	T	A	6: 116,652,161	L155Q	possibly damaging	Het
Abhd11	A	G	5: 135,011,906	I271V	possibly damaging	Het
AI314180	C	T	4: 58,828,632	V934I	probably damaging	Het
Akap6	T	G	12: 53,142,216	S2138A	probably benign	Het
Amn	C	A	12: 111,275,006	P235H	probably damaging	Het
Arf2	A	T	11: 103,969,149	M18L	probably benign	Het
Bok	T	C	1: 93,694,942		probably null	Het
Casp8	A	G	1: 58,844,458	N308S	probably benign	Het
Cavin3	G	T	7: 105,481,947	H71Q	possibly damaging	Het
Ccdc87	A	G	19: 4,841,618	I713V	probably benign	Het
Clcn6	A	T	4: 148,008,897		probably null	Het
Cmas	T	C	6: 142,771,201	I273T	possibly damaging	Het
Ctxn3	A	T	18: 57,477,306	D65V	probably damaging	Het
D130040H23Rik	C	A	8: 69,303,053	N387K	probably benign	Het
Dnah9	T	C	11: 65,927,990	K3174R	possibly damaging	Het
Efcab14	A	G	4: 115,746,596	N157S	probably damaging	Het
Ets1	G	A	9: 32,730,178	G109D	probably damaging	Het
Fbln5	G	A	12: 101,768,495	R173C	probably damaging	Het
Fchsd1	G	A	18: 37,962,982	P525L	probably benign	Het
Gmppa	G	A	1: 75,439,381	V156I	probably damaging	Het
Gtpbp1	A	G	15: 79,719,281	D182G		Het
Ift140	T	A	17: 25,035,835	S430T	probably benign	Het
Kat7	G	C	11: 95,294,566	C161W	probably damaging	Het
Lipk	T	A	19: 34,018,784	M32K	probably damaging	Het
Lum	A	T	10: 97,568,489	D82V	possibly damaging	Het
Macf1	C	A	4: 123,355,151	A7196S	probably damaging	Het
Mroh2b	T	A	15: 4,935,300	S926T	probably damaging	Het
Nbn	G	T	4: 15,981,555	R549I	probably damaging	Het
Nfu1	T	C	6: 87,019,418	I117T	probably damaging	Het
Olfr1355	A	G	10: 78,879,321	T50A	probably benign	Het
Olfr566	T	C	7: 102,856,932	T117A	probably benign	Het
Parp1	T	C	1: 180,594,710	L778P	probably damaging	Het
Pbld2	G	T	10: 63,052,290	V125F	probably benign	Het
Prkag2	A	G	5: 24,880,682		probably null	Het
Prss54	A	G	8: 95,559,723	F241L	probably benign	Het
Rnf121	T	C	7: 102,029,109	D177G	probably damaging	Het
Slc12a7	G	A	13: 73,785,122	V100I	probably benign	Het
Slc28a1	C	T	7: 81,124,971	L189F	possibly damaging	Het
Slc35a3	T	C	3: 116,694,570	Q16R	probably damaging	Het
Snap91	A	G	9: 86,804,524	F354L	probably damaging	Het
Steap2	A	G	5: 5,673,539	I447T	probably benign	Het
Tagap	T	A	17: 7,928,770	I104N	probably damaging	Het
Tas1r2	A	G	4: 139,660,007	D259G	probably benign	Het
Tgm3	T	C	2: 130,044,532	S558P	probably benign	Het
Tuba3a	A	G	6: 125,281,055	V324A	probably damaging	Het
Vmn1r238	T	G	18: 3,123,232	I61L	possibly damaging	Het
Vmp1	A	G	11: 86,602,059	V308A	probably damaging	Het
Wdfy4	A	C	14: 33,152,654	V159G		Het
Zfp827	A	G	8: 79,028,687	M1V	probably null	Het
Zmym4	A	G	4: 126,893,405	I1031T	probably damaging	Het

Other mutations in Vmn1r52

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01721:Vmn1r52	APN	6	90178923	missense	probably benign
IGL02102:Vmn1r52	APN	6	90179207	missense	possibly damaging	0.92
IGL02583:Vmn1r52	APN	6	90179144	nonsense	probably null
IGL02938:Vmn1r52	APN	6	90179313	missense	possibly damaging	0.58
R0233:Vmn1r52	UTSW	6	90179611	missense	possibly damaging	0.96
R0233:Vmn1r52	UTSW	6	90179611	missense	possibly damaging	0.96
R0904:Vmn1r52	UTSW	6	90179464	missense	probably damaging	0.98
R2190:Vmn1r52	UTSW	6	90179169	missense	probably benign	0.12
R4184:Vmn1r52	UTSW	6	90179237	missense	probably benign	0.00
R4906:Vmn1r52	UTSW	6	90178948	missense	possibly damaging	0.63
R5475:Vmn1r52	UTSW	6	90178912	missense	probably benign	0.04
R5689:Vmn1r52	UTSW	6	90179250	missense	possibly damaging	0.95
R5740:Vmn1r52	UTSW	6	90179194	missense	probably benign	0.02
R7263:Vmn1r52	UTSW	6	90179553	missense	probably benign	0.00
R7337:Vmn1r52	UTSW	6	90179623	missense	probably benign	0.31
R7374:Vmn1r52	UTSW	6	90179136	missense	probably benign	0.08
R8161:Vmn1r52	UTSW	6	90179257	missense	possibly damaging	0.73
R8699:Vmn1r52	UTSW	6	90178760	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TCCACACTGTTGGCTTTCAGG -3'
(R):5'- TGTGAGAAAACTTACCCTCACAG -3'

Sequencing Primer
(F):5'- CACACTGTTGGCTTTCAGGAATGTC -3'
(R):5'- TTACCCTCACAGAAAATCAAAGTAC -3'

Posted On

2021-03-08