Mutagenetix > Incidental Mutation

Incidental Mutation 'R6760:Vmn2r28'

531190

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r28

Ensembl Gene

ENSMUSG00000066820

Gene Name

vomeronasal 2, receptor 28

Synonyms

EG665255

MMRRC Submission

044876-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R6760 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

5483455-5496850 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 5484229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 657 (T657I)

Ref Sequence

ENSEMBL: ENSMUSP00000083477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086297]

AlphaFold

L7N203

Predicted Effect

probably damaging
Transcript: ENSMUST00000086297
AA Change: T657I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000083477
Gene: ENSMUSG00000066820
AA Change: T657I

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	73	470	1.7e-26	PFAM
Pfam:NCD3G	512	565	9.8e-21	PFAM
Pfam:7tm_3	598	833	2.8e-56	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.8%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco1	C	A	4: 40,180,210 (GRCm39)	C370*	probably null	Het
Akap6	C	T	12: 53,186,561 (GRCm39)	S1325L	probably damaging	Het
Atp2a3	A	G	11: 72,873,566 (GRCm39)	D813G	probably damaging	Het
Baz2b	T	A	2: 59,792,776 (GRCm39)	I451F	probably benign	Het
Calm2	T	C	17: 87,743,123 (GRCm39)	D65G	probably benign	Het
Cdh23	C	T	10: 60,141,947 (GRCm39)	V3049M	probably damaging	Het
Cfap46	A	G	7: 139,232,356 (GRCm39)	L869P	probably damaging	Het
Chrna9	T	A	5: 66,128,571 (GRCm39)	Y260N	probably damaging	Het
Clock	G	A	5: 76,374,823 (GRCm39)	P782L	unknown	Het
Coro2a	A	G	4: 46,540,572 (GRCm39)	M449T	probably benign	Het
Crispld1	T	G	1: 17,821,025 (GRCm39)	V355G	possibly damaging	Het
Dnah7c	C	A	1: 46,688,500 (GRCm39)	T1890K	probably benign	Het
Dnah7c	A	G	1: 46,688,511 (GRCm39)	S1894G	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Gpr37	T	C	6: 25,669,168 (GRCm39)	I559V	probably benign	Het
Grik5	A	G	7: 24,758,364 (GRCm39)		probably null	Het
Itga8	T	C	2: 12,306,451 (GRCm39)	Y48C	probably damaging	Het
Manba	T	C	3: 135,248,212 (GRCm39)	V367A	probably damaging	Het
Mrgpra1	G	A	7: 46,984,789 (GRCm39)	R297W	probably benign	Het
Myh7b	C	A	2: 155,462,038 (GRCm39)	Y311*	probably null	Het
Nmd3	T	A	3: 69,654,170 (GRCm39)		probably null	Het
Or5m9	T	A	2: 85,877,358 (GRCm39)	C177*	probably null	Het
Pakap	T	C	4: 57,856,026 (GRCm39)	W493R	probably damaging	Het
Pcdhb11	A	T	18: 37,554,637 (GRCm39)		probably benign	Het
Plcb1	C	T	2: 135,313,980 (GRCm39)	T1144M	possibly damaging	Het
Sfrp1	A	G	8: 23,901,904 (GRCm39)	D35G	probably damaging	Het
St3gal1	A	G	15: 66,983,195 (GRCm39)	V187A	possibly damaging	Het
Timeless	A	G	10: 128,081,986 (GRCm39)	K537R	probably benign	Het
Tnrc6a	T	A	7: 122,771,222 (GRCm39)	V1004E	probably damaging	Het
Tubb4a	T	C	17: 57,387,796 (GRCm39)	E410G	possibly damaging	Het
U2surp	G	A	9: 95,375,764 (GRCm39)	A143V	probably benign	Het
Vmn2r118	T	A	17: 55,899,714 (GRCm39)	H730L	possibly damaging	Het
Ybey	A	T	10: 76,304,033 (GRCm39)	N56K	probably benign	Het

Other mutations in Vmn2r28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00095:Vmn2r28	APN	7	5,491,068 (GRCm39)	missense	probably benign	0.12
IGL01061:Vmn2r28	APN	7	5,491,183 (GRCm39)	missense	probably damaging	1.00
IGL01160:Vmn2r28	APN	7	5,489,477 (GRCm39)	missense	probably damaging	0.99
IGL01335:Vmn2r28	APN	7	5,484,087 (GRCm39)	missense	possibly damaging	0.67
IGL01532:Vmn2r28	APN	7	5,489,463 (GRCm39)	missense	probably benign	0.16
IGL01791:Vmn2r28	APN	7	5,491,161 (GRCm39)	missense	probably benign	0.00
IGL01875:Vmn2r28	APN	7	5,484,302 (GRCm39)	missense	probably benign	0.30
IGL02161:Vmn2r28	APN	7	5,491,123 (GRCm39)	missense	possibly damaging	0.88
IGL02499:Vmn2r28	APN	7	5,493,568 (GRCm39)	missense	probably damaging	0.98
IGL02858:Vmn2r28	APN	7	5,484,003 (GRCm39)	missense	probably damaging	0.99
IGL03061:Vmn2r28	APN	7	5,487,015 (GRCm39)	missense	probably damaging	0.98
G1patch:Vmn2r28	UTSW	7	5,491,408 (GRCm39)	missense	probably benign	0.13
R0288:Vmn2r28	UTSW	7	5,491,020 (GRCm39)	missense	probably damaging	1.00
R0361:Vmn2r28	UTSW	7	5,496,715 (GRCm39)	missense	probably benign	0.00
R0396:Vmn2r28	UTSW	7	5,491,513 (GRCm39)	missense	probably benign	0.05
R0480:Vmn2r28	UTSW	7	5,493,456 (GRCm39)	missense	probably benign	0.00
R0485:Vmn2r28	UTSW	7	5,491,689 (GRCm39)	missense	probably damaging	1.00
R0837:Vmn2r28	UTSW	7	5,491,026 (GRCm39)	missense	probably damaging	0.99
R1282:Vmn2r28	UTSW	7	5,484,301 (GRCm39)	missense	probably damaging	0.99
R1296:Vmn2r28	UTSW	7	5,484,544 (GRCm39)	missense	possibly damaging	0.81
R1829:Vmn2r28	UTSW	7	5,496,810 (GRCm39)	missense	probably benign
R1853:Vmn2r28	UTSW	7	5,484,246 (GRCm39)	nonsense	probably null
R1869:Vmn2r28	UTSW	7	5,489,345 (GRCm39)	missense	probably benign	0.00
R1887:Vmn2r28	UTSW	7	5,491,288 (GRCm39)	missense	possibly damaging	0.90
R1961:Vmn2r28	UTSW	7	5,484,070 (GRCm39)	missense	possibly damaging	0.85
R1998:Vmn2r28	UTSW	7	5,491,313 (GRCm39)	missense	possibly damaging	0.87
R2392:Vmn2r28	UTSW	7	5,487,130 (GRCm39)	missense	probably damaging	0.98
R2432:Vmn2r28	UTSW	7	5,491,701 (GRCm39)	missense	probably damaging	0.99
R3055:Vmn2r28	UTSW	7	5,484,391 (GRCm39)	missense	probably damaging	0.98
R3753:Vmn2r28	UTSW	7	5,491,026 (GRCm39)	missense	probably damaging	0.99
R3877:Vmn2r28	UTSW	7	5,491,357 (GRCm39)	missense	probably damaging	1.00
R4307:Vmn2r28	UTSW	7	5,493,707 (GRCm39)	missense	probably damaging	0.99
R5023:Vmn2r28	UTSW	7	5,489,463 (GRCm39)	missense	probably benign	0.16
R5057:Vmn2r28	UTSW	7	5,489,463 (GRCm39)	missense	probably benign	0.16
R5083:Vmn2r28	UTSW	7	5,483,671 (GRCm39)	missense	possibly damaging	0.77
R5427:Vmn2r28	UTSW	7	5,489,376 (GRCm39)	missense	probably damaging	0.99
R5472:Vmn2r28	UTSW	7	5,490,943 (GRCm39)	critical splice donor site	probably null
R5511:Vmn2r28	UTSW	7	5,487,011 (GRCm39)	missense	possibly damaging	0.61
R5731:Vmn2r28	UTSW	7	5,491,668 (GRCm39)	missense	probably benign	0.41
R6091:Vmn2r28	UTSW	7	5,496,790 (GRCm39)	missense	possibly damaging	0.88
R6179:Vmn2r28	UTSW	7	5,491,003 (GRCm39)	nonsense	probably null
R6276:Vmn2r28	UTSW	7	5,493,730 (GRCm39)	missense	probably benign	0.01
R6441:Vmn2r28	UTSW	7	5,491,474 (GRCm39)	missense	probably benign	0.00
R6463:Vmn2r28	UTSW	7	5,489,435 (GRCm39)	missense	probably benign	0.07
R6528:Vmn2r28	UTSW	7	5,493,684 (GRCm39)	missense	probably benign	0.12
R6725:Vmn2r28	UTSW	7	5,491,408 (GRCm39)	missense	probably benign	0.13
R6849:Vmn2r28	UTSW	7	5,483,806 (GRCm39)	missense	probably damaging	1.00
R7110:Vmn2r28	UTSW	7	5,493,733 (GRCm39)	missense	probably benign	0.06
R7146:Vmn2r28	UTSW	7	5,484,495 (GRCm39)	missense	probably benign	0.05
R7407:Vmn2r28	UTSW	7	5,484,308 (GRCm39)	missense	probably damaging	1.00
R7563:Vmn2r28	UTSW	7	5,491,200 (GRCm39)	missense	probably benign	0.00
R7611:Vmn2r28	UTSW	7	5,484,255 (GRCm39)	missense	probably benign	0.02
R7808:Vmn2r28	UTSW	7	5,496,678 (GRCm39)	missense	probably damaging	0.98
R7862:Vmn2r28	UTSW	7	5,493,613 (GRCm39)	missense	probably benign	0.00
R7916:Vmn2r28	UTSW	7	5,483,818 (GRCm39)	missense	probably damaging	1.00
R8183:Vmn2r28	UTSW	7	5,491,147 (GRCm39)	missense	probably damaging	1.00
R8334:Vmn2r28	UTSW	7	5,487,059 (GRCm39)	missense	probably damaging	1.00
R8519:Vmn2r28	UTSW	7	5,489,347 (GRCm39)	missense	probably benign	0.31
R8989:Vmn2r28	UTSW	7	5,493,473 (GRCm39)	missense	probably benign	0.00
R9066:Vmn2r28	UTSW	7	5,491,596 (GRCm39)	missense	probably damaging	1.00
R9422:Vmn2r28	UTSW	7	5,483,747 (GRCm39)	missense	probably damaging	1.00
R9469:Vmn2r28	UTSW	7	5,487,118 (GRCm39)	missense	probably damaging	0.99
R9608:Vmn2r28	UTSW	7	5,491,220 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- TGTTTCCATGCTCAGAATGTTCATC -3'
(R):5'- TCACAGCTCTGGTACTTTGGG -3'

Sequencing Primer
(F):5'- GAAACTGCTAGCCAGATTGC -3'
(R):5'- GCGTTTGTGAAGCACCATGAC -3'

Posted On

2018-08-01