Mutagenetix > Incidental Mutations

Incidental Mutation 'R1536:Vmn2r27'

169525

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r27

Ensembl Gene

ENSMUSG00000072778

Gene Name

vomeronasal 2, receptor27

Synonyms

EG232367

MMRRC Submission

039575-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R1536 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

124191596-124231784 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124200690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 452 (R452G)

Ref Sequence

ENSEMBL: ENSMUSP00000098528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100968]

AlphaFold

D3YUK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000100968
AA Change: R452G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098528
Gene: ENSMUSG00000072778
AA Change: R452G

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	81	475	1.1e-27	PFAM
Pfam:NCD3G	519	570	1.3e-18	PFAM
Pfam:7tm_3	603	838	2.6e-50	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.5%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	T	5: 87,970,665	I3F	probably benign	Het
4930590J08Rik	A	G	6: 91,917,035	N211S	probably benign	Het
A2ml1	A	T	6: 128,547,233	Y1145*	probably null	Het
Abca7	A	G	10: 80,014,230	D1972G	probably benign	Het
Adamts19	A	T	18: 59,052,615	D1187V	probably damaging	Het
Adcy6	G	C	15: 98,600,007	I421M	probably damaging	Het
Afap1	C	A	5: 35,974,491	H387Q	probably damaging	Het
Atp8b1	C	T	18: 64,545,264	V854M	probably damaging	Het
Auts2	C	T	5: 131,487,463		probably benign	Het
Cbll1	T	C	12: 31,487,856	D300G	probably damaging	Het
Cd200r4	A	T	16: 44,833,049	T61S	possibly damaging	Het
Chmp4c	G	T	3: 10,389,684	V207L	probably benign	Het
Cntn5	T	C	9: 9,976,316	T413A	possibly damaging	Het
Cox7a2	T	A	9: 79,758,581		probably null	Het
Cwc27	A	G	13: 104,797,306	L236P	probably damaging	Het
Diaph1	A	G	18: 37,896,093		probably null	Het
Dst	T	A	1: 34,260,372		probably benign	Het
Ear1	T	A	14: 43,819,126	H95L	probably damaging	Het
Enpp1	T	A	10: 24,641,834	H898L	probably benign	Het
Entpd5	G	A	12: 84,382,295	R321*	probably null	Het
Ercc6l2	C	A	13: 63,824,871	N177K	possibly damaging	Het
Ergic1	T	C	17: 26,641,706		probably null	Het
Erich6	A	T	3: 58,626,598	I336N	probably benign	Het
Fmnl2	A	G	2: 53,105,537	E424G	probably damaging	Het
Galnt3	A	T	2: 66,084,206	D622E	probably damaging	Het
Gjd4	T	A	18: 9,280,569	T170S	probably damaging	Het
Gm5611	G	A	9: 17,030,607		noncoding transcript	Het
Gpc5	T	A	14: 115,399,250	N448K	probably benign	Het
Klra3	G	C	6: 130,333,144	R138G	probably benign	Het
Man2b2	T	C	5: 36,820,927	T338A	probably benign	Het
Mbtps1	A	T	8: 119,546,125	S94T	probably benign	Het
Muc3a	A	T	5: 137,210,081	S205T	unknown	Het
Nav2	C	A	7: 49,545,934	D1019E	probably damaging	Het
Neurl4	T	A	11: 69,903,426	L236*	probably null	Het
Olfr272	A	G	4: 52,911,260	V178A	probably benign	Het
Plcxd3	T	C	15: 4,516,611		probably benign	Het
Pprc1	T	C	19: 46,071,526		probably benign	Het
Prkaa2	T	A	4: 105,075,450	N67I	probably damaging	Het
Prom1	T	A	5: 44,018,353	Y508F	probably benign	Het
Prx	A	G	7: 27,517,258	M534V	probably damaging	Het
Rps6kc1	C	T	1: 190,871,768	R219Q	possibly damaging	Het
Sbf2	T	C	7: 110,378,043	Y628C	probably damaging	Het
Slc1a2	A	T	2: 102,777,510	D501V	probably benign	Het
Spata31	A	T	13: 64,921,382	Q448L	probably damaging	Het
Stk35	T	C	2: 129,811,235		probably benign	Het
Stxbp5	T	A	10: 9,838,092	R234S	probably damaging	Het
Tifab	A	G	13: 56,176,288	V114A	probably benign	Het
Tiprl	A	G	1: 165,228,406	M49T	probably benign	Het
Tlr12	A	G	4: 128,617,752	L235P	possibly damaging	Het
Tmem57	A	G	4: 134,804,507	V617A	probably damaging	Het
Trim43b	A	T	9: 89,085,358	C407*	probably null	Het
Txndc17	C	A	11: 72,207,707	F28L	probably damaging	Het
Vmn2r3	T	A	3: 64,275,117	D387V	probably damaging	Het
Vps13b	T	C	15: 35,875,566	I2699T	probably damaging	Het
Zfp944	G	T	17: 22,339,716	Y183*	probably null	Het

Other mutations in Vmn2r27

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01285:Vmn2r27	APN	6	124192411	missense	possibly damaging	0.86
IGL01388:Vmn2r27	APN	6	124223832	missense	possibly damaging	0.55
IGL01923:Vmn2r27	APN	6	124200525	missense	probably benign	0.20
IGL01954:Vmn2r27	APN	6	124192248	missense	probably damaging	1.00
IGL02105:Vmn2r27	APN	6	124197349	splice site	probably benign
IGL02586:Vmn2r27	APN	6	124224475	nonsense	probably null
IGL03130:Vmn2r27	APN	6	124192317	missense	possibly damaging	0.82
IGL03330:Vmn2r27	APN	6	124230180	nonsense	probably null
R0124:Vmn2r27	UTSW	6	124231619	missense	probably benign
R0234:Vmn2r27	UTSW	6	124231619	missense	probably benign
R0234:Vmn2r27	UTSW	6	124231619	missense	probably benign
R0384:Vmn2r27	UTSW	6	124223912	missense	probably benign	0.01
R0582:Vmn2r27	UTSW	6	124224290	missense	probably benign	0.02
R0733:Vmn2r27	UTSW	6	124192188	missense	probably benign	0.18
R0738:Vmn2r27	UTSW	6	124223702	missense	possibly damaging	0.48
R0835:Vmn2r27	UTSW	6	124200624	missense	probably damaging	0.99
R1183:Vmn2r27	UTSW	6	124200532	missense	probably benign
R1401:Vmn2r27	UTSW	6	124191632	nonsense	probably null
R1484:Vmn2r27	UTSW	6	124200515	missense	probably damaging	0.96
R1539:Vmn2r27	UTSW	6	124191771	missense	probably damaging	1.00
R1565:Vmn2r27	UTSW	6	124231634	missense	probably benign
R1595:Vmn2r27	UTSW	6	124231615	missense	probably benign	0.00
R1614:Vmn2r27	UTSW	6	124223934	missense	probably benign	0.01
R1742:Vmn2r27	UTSW	6	124200677	missense	possibly damaging	0.48
R1816:Vmn2r27	UTSW	6	124230371	nonsense	probably null
R1822:Vmn2r27	UTSW	6	124231634	missense	probably benign
R1824:Vmn2r27	UTSW	6	124231634	missense	probably benign
R1870:Vmn2r27	UTSW	6	124224211	missense	probably benign	0.11
R1942:Vmn2r27	UTSW	6	124223763	missense	probably damaging	1.00
R1962:Vmn2r27	UTSW	6	124223834	missense	possibly damaging	0.70
R2069:Vmn2r27	UTSW	6	124224483	missense	probably damaging	1.00
R2075:Vmn2r27	UTSW	6	124200551	missense	possibly damaging	0.85
R2379:Vmn2r27	UTSW	6	124224383	missense	possibly damaging	0.89
R3748:Vmn2r27	UTSW	6	124230392	missense	probably benign	0.35
R4384:Vmn2r27	UTSW	6	124224156	missense	probably benign	0.05
R4392:Vmn2r27	UTSW	6	124230176	missense	probably benign	0.01
R4758:Vmn2r27	UTSW	6	124231637	missense	possibly damaging	0.87
R5018:Vmn2r27	UTSW	6	124224182	missense	probably benign	0.02
R5235:Vmn2r27	UTSW	6	124192054	missense	probably damaging	0.99
R5718:Vmn2r27	UTSW	6	124192144	missense	possibly damaging	0.66
R5859:Vmn2r27	UTSW	6	124200688	missense	probably damaging	1.00
R5958:Vmn2r27	UTSW	6	124231727	missense	probably benign	0.00
R6044:Vmn2r27	UTSW	6	124231772	missense	probably benign
R6086:Vmn2r27	UTSW	6	124191999	missense	probably damaging	1.00
R6396:Vmn2r27	UTSW	6	124224166	nonsense	probably null
R6546:Vmn2r27	UTSW	6	124192410	missense	possibly damaging	0.49
R6746:Vmn2r27	UTSW	6	124200593	missense	possibly damaging	0.47
R6976:Vmn2r27	UTSW	6	124224353	nonsense	probably null
R7091:Vmn2r27	UTSW	6	124223945	missense	possibly damaging	0.85
R7145:Vmn2r27	UTSW	6	124191752	missense	probably benign
R7176:Vmn2r27	UTSW	6	124192036	missense	probably benign	0.01
R7382:Vmn2r27	UTSW	6	124197317	missense	probably damaging	1.00
R7482:Vmn2r27	UTSW	6	124224261	missense	probably damaging	1.00
R7853:Vmn2r27	UTSW	6	124192021	missense	probably damaging	1.00
R7859:Vmn2r27	UTSW	6	124224242	missense	probably benign	0.00
R7959:Vmn2r27	UTSW	6	124192081	missense	probably benign
R8266:Vmn2r27	UTSW	6	124191978	missense	probably benign	0.00
R8353:Vmn2r27	UTSW	6	124192445	missense	probably damaging	0.99
R8394:Vmn2r27	UTSW	6	124191817	missense	possibly damaging	0.71
R8463:Vmn2r27	UTSW	6	124192209	missense	probably damaging	1.00
R8477:Vmn2r27	UTSW	6	124224241	missense	probably benign	0.11
R8705:Vmn2r27	UTSW	6	124230229	missense	probably damaging	1.00
R8752:Vmn2r27	UTSW	6	124224059	missense	probably benign	0.00
R9109:Vmn2r27	UTSW	6	124197265	missense	possibly damaging	0.95
R9140:Vmn2r27	UTSW	6	124192248	missense	probably damaging	1.00
R9157:Vmn2r27	UTSW	6	124224285	missense	probably benign	0.09
R9431:Vmn2r27	UTSW	6	124191897	missense	probably damaging	1.00
R9477:Vmn2r27	UTSW	6	124191951	missense	probably damaging	0.99
Z1177:Vmn2r27	UTSW	6	124191901	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGCAGCACACAGTGATGACTTC -3'
(R):5'- ATCTGGTGGACAGAGTCCTCCTTC -3'

Sequencing Primer
(F):5'- GTGATGACTTCAAGAATACTCACC -3'
(R):5'- GTGCATAGAGCACTACTGCTAC -3'

Posted On

2014-04-13