Mutagenetix > Incidental Mutation

Incidental Mutation 'R7049:Vmn2r4'

547473

Institutional Source

Beutler Lab

Gene Symbol

Vmn2r4

Ensembl Gene

ENSMUSG00000092049

Gene Name

vomeronasal 2, receptor 4

Synonyms

EG637053

MMRRC Submission

045147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R7049 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

64295982-64322741 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64296550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 745 (G745D)

Ref Sequence

ENSEMBL: ENSMUSP00000135228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170280] [ENSMUST00000175724]

AlphaFold

K7N784

Predicted Effect

probably benign
Transcript: ENSMUST00000170280
AA Change: G656D

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: G656D

Domain	Start	End	E-Value	Type
Pfam:ANF_receptor	1	416	2.7e-72	PFAM
Pfam:Peripla_BP_6	61	240	1.9e-9	PFAM
Pfam:NCD3G	458	511	1.1e-17	PFAM
Pfam:7tm_3	542	779	1.8e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175724
AA Change: G745D

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: G745D

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:ANF_receptor	88	505	2.3e-75	PFAM
Pfam:NCD3G	547	600	4.7e-17	PFAM
Pfam:7tm_3	633	867	8.2e-47	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,941,497 (GRCm39)	V447A	probably benign	Het
Adam6b	A	G	12: 113,454,122 (GRCm39)	D313G	probably damaging	Het
Adcy10	G	T	1: 165,367,443 (GRCm39)	C571F	probably damaging	Het
Anxa1	A	G	19: 20,352,635 (GRCm39)	V313A	probably benign	Het
Bpifb6	A	T	2: 153,750,733 (GRCm39)		probably null	Het
Cacna1c	C	A	6: 118,578,124 (GRCm39)	C1713F	probably benign	Het
Cep135	A	G	5: 76,754,585 (GRCm39)	N354S	probably benign	Het
Cers2	A	G	3: 95,228,965 (GRCm39)	D200G	probably damaging	Het
Cpne1	A	G	2: 155,920,727 (GRCm39)	L133P	probably damaging	Het
Ddhd1	A	G	14: 45,840,138 (GRCm39)	Y16H	probably damaging	Het
Depp1	T	C	6: 116,629,254 (GRCm39)	L199P	probably damaging	Het
Fastkd2	T	C	1: 63,771,009 (GRCm39)	F122L	probably benign	Het
Fastkd5	A	T	2: 130,457,431 (GRCm39)	D386E	probably damaging	Het
Gm5134	T	A	10: 75,828,292 (GRCm39)	C291S	probably damaging	Het
Gria2	T	C	3: 80,596,634 (GRCm39)	S811G	probably damaging	Het
Hcn1	C	T	13: 118,111,998 (GRCm39)	P654L	unknown	Het
Hrnr	C	A	3: 93,230,461 (GRCm39)	S233*	probably null	Het
Hspa5	C	T	2: 34,663,204 (GRCm39)	P127L	probably damaging	Het
Itgal	A	T	7: 126,895,573 (GRCm39)		probably benign	Het
L3mbtl4	G	T	17: 68,768,561 (GRCm39)	R223L	probably benign	Het
Mical1	A	G	10: 41,358,246 (GRCm39)	R420G	possibly damaging	Het
Mllt6	T	A	11: 97,564,637 (GRCm39)	L481Q	probably damaging	Het
Mtdh	T	A	15: 34,131,311 (GRCm39)	N174K	probably damaging	Het
Nhsl1	A	G	10: 18,407,386 (GRCm39)	M1507V	probably damaging	Het
Npm3	A	T	19: 45,737,994 (GRCm39)	M1K	probably null	Het
Or1e21	C	T	11: 73,344,430 (GRCm39)	G203R	probably damaging	Het
Pold1	A	T	7: 44,190,795 (GRCm39)	W290R	possibly damaging	Het
Prss52	C	T	14: 64,350,021 (GRCm39)	T216I	probably damaging	Het
Psme4	T	C	11: 30,763,904 (GRCm39)		probably null	Het
Pwwp2a	T	A	11: 43,597,018 (GRCm39)	F453I	probably damaging	Het
Rttn	A	G	18: 89,082,340 (GRCm39)	N1422S	probably damaging	Het
Scaf4	A	C	16: 90,057,075 (GRCm39)	I92R	unknown	Het
Slc12a1	A	G	2: 125,013,177 (GRCm39)	K345E	probably benign	Het
Slc22a28	A	T	19: 8,049,270 (GRCm39)	N326K	probably benign	Het
Smgc	A	G	15: 91,744,576 (GRCm39)	E311G	possibly damaging	Het
Snx7	C	T	3: 117,633,680 (GRCm39)	R90H	possibly damaging	Het
Tex101	A	G	7: 24,367,683 (GRCm39)	I223T	probably benign	Het
Tnik	A	T	3: 28,715,853 (GRCm39)	K1093*	probably null	Het
Tnxb	T	G	17: 34,936,242 (GRCm39)		probably null	Het
Trio	T	C	15: 27,749,885 (GRCm39)	N2272S	possibly damaging	Het
Tubal3	T	C	13: 3,982,756 (GRCm39)	Y179H	probably damaging	Het
Vps9d1	A	T	8: 123,973,882 (GRCm39)	Y300*	probably null	Het
Zfp646	T	A	7: 127,479,199 (GRCm39)	C459S	possibly damaging	Het

Other mutations in Vmn2r4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01310:Vmn2r4	APN	3	64,317,200 (GRCm39)	splice site	probably null
IGL01448:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01452:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01454:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01456:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01463:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01467:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01468:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01470:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01476:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01481:Vmn2r4	APN	3	64,313,816 (GRCm39)	missense	probably damaging	0.99
IGL01534:Vmn2r4	APN	3	64,313,844 (GRCm39)	missense	probably damaging	1.00
IGL01636:Vmn2r4	APN	3	64,313,657 (GRCm39)	missense	probably benign	0.21
IGL01879:Vmn2r4	APN	3	64,298,431 (GRCm39)	missense	probably damaging	1.00
IGL02147:Vmn2r4	APN	3	64,305,782 (GRCm39)	splice site	probably benign
IGL02276:Vmn2r4	APN	3	64,313,877 (GRCm39)	missense	possibly damaging	0.95
IGL02432:Vmn2r4	APN	3	64,313,821 (GRCm39)	missense	probably benign	0.38
IGL02533:Vmn2r4	APN	3	64,305,840 (GRCm39)	nonsense	probably null
IGL02655:Vmn2r4	APN	3	64,305,886 (GRCm39)	missense	probably damaging	0.97
IGL02666:Vmn2r4	APN	3	64,296,433 (GRCm39)	missense	probably benign	0.10
IGL02902:Vmn2r4	APN	3	64,314,337 (GRCm39)	missense	probably benign	0.22
IGL03189:Vmn2r4	APN	3	64,296,589 (GRCm39)	missense	possibly damaging	0.89
IGL03250:Vmn2r4	APN	3	64,314,063 (GRCm39)	missense	probably damaging	1.00
IGL03271:Vmn2r4	APN	3	64,305,850 (GRCm39)	missense	probably benign	0.01
R0310:Vmn2r4	UTSW	3	64,296,855 (GRCm39)	nonsense	probably null
R0504:Vmn2r4	UTSW	3	64,296,784 (GRCm39)	missense	probably damaging	1.00
R1546:Vmn2r4	UTSW	3	64,314,309 (GRCm39)	missense	probably damaging	1.00
R1562:Vmn2r4	UTSW	3	64,296,865 (GRCm39)	missense	probably damaging	0.98
R1863:Vmn2r4	UTSW	3	64,314,410 (GRCm39)	missense	probably benign	0.33
R1873:Vmn2r4	UTSW	3	64,298,479 (GRCm39)	missense	possibly damaging	0.93
R1939:Vmn2r4	UTSW	3	64,305,976 (GRCm39)	missense	probably benign	0.00
R2103:Vmn2r4	UTSW	3	64,322,704 (GRCm39)	missense	possibly damaging	0.48
R3083:Vmn2r4	UTSW	3	64,296,788 (GRCm39)	missense	probably damaging	1.00
R3687:Vmn2r4	UTSW	3	64,296,896 (GRCm39)	missense	possibly damaging	0.93
R3707:Vmn2r4	UTSW	3	64,296,895 (GRCm39)	missense	probably damaging	0.99
R3963:Vmn2r4	UTSW	3	64,322,572 (GRCm39)	missense	probably damaging	0.99
R4428:Vmn2r4	UTSW	3	64,322,590 (GRCm39)	missense	probably damaging	1.00
R4710:Vmn2r4	UTSW	3	64,317,201 (GRCm39)	critical splice donor site	probably null
R4737:Vmn2r4	UTSW	3	64,317,384 (GRCm39)	missense	probably damaging	1.00
R4767:Vmn2r4	UTSW	3	64,298,397 (GRCm39)	missense	probably damaging	0.99
R4776:Vmn2r4	UTSW	3	64,296,082 (GRCm39)	missense	probably damaging	0.96
R4834:Vmn2r4	UTSW	3	64,317,484 (GRCm39)	missense	probably benign	0.40
R4893:Vmn2r4	UTSW	3	64,313,676 (GRCm39)	missense	probably damaging	0.96
R4908:Vmn2r4	UTSW	3	64,296,476 (GRCm39)	missense	possibly damaging	0.59
R5049:Vmn2r4	UTSW	3	64,306,019 (GRCm39)	splice site	probably null
R5092:Vmn2r4	UTSW	3	64,298,373 (GRCm39)	missense	probably benign	0.01
R5234:Vmn2r4	UTSW	3	64,305,878 (GRCm39)	missense	possibly damaging	0.88
R5240:Vmn2r4	UTSW	3	64,314,358 (GRCm39)	missense	possibly damaging	0.53
R5704:Vmn2r4	UTSW	3	64,317,370 (GRCm39)	missense	probably benign	0.03
R5897:Vmn2r4	UTSW	3	64,322,687 (GRCm39)	nonsense	probably null
R5907:Vmn2r4	UTSW	3	64,298,487 (GRCm39)	missense	probably damaging	0.99
R5924:Vmn2r4	UTSW	3	64,296,685 (GRCm39)	missense	probably damaging	1.00
R6145:Vmn2r4	UTSW	3	64,314,364 (GRCm39)	missense	probably benign	0.00
R6191:Vmn2r4	UTSW	3	64,322,702 (GRCm39)	missense	probably benign	0.34
R6192:Vmn2r4	UTSW	3	64,322,699 (GRCm39)	missense	probably benign	0.00
R6207:Vmn2r4	UTSW	3	64,313,926 (GRCm39)	missense	probably damaging	1.00
R6457:Vmn2r4	UTSW	3	64,317,378 (GRCm39)	missense	probably damaging	1.00
R6533:Vmn2r4	UTSW	3	64,322,519 (GRCm39)	missense	probably benign
R6545:Vmn2r4	UTSW	3	64,313,777 (GRCm39)	missense	possibly damaging	0.50
R6594:Vmn2r4	UTSW	3	64,296,731 (GRCm39)	missense	probably damaging	1.00
R7150:Vmn2r4	UTSW	3	64,305,898 (GRCm39)	missense	probably benign	0.01
R7187:Vmn2r4	UTSW	3	64,322,681 (GRCm39)	missense	probably benign	0.00
R7363:Vmn2r4	UTSW	3	64,314,432 (GRCm39)	missense	probably damaging	1.00
R7477:Vmn2r4	UTSW	3	64,305,850 (GRCm39)	missense	probably benign	0.01
R7675:Vmn2r4	UTSW	3	64,322,657 (GRCm39)	missense	probably benign	0.01
R7858:Vmn2r4	UTSW	3	64,317,226 (GRCm39)	missense	probably benign	0.00
R7888:Vmn2r4	UTSW	3	64,313,943 (GRCm39)	missense	probably damaging	0.99
R8678:Vmn2r4	UTSW	3	64,314,391 (GRCm39)	missense	probably benign
R8743:Vmn2r4	UTSW	3	64,317,247 (GRCm39)	missense	possibly damaging	0.95
R8841:Vmn2r4	UTSW	3	64,314,058 (GRCm39)	missense	probably damaging	0.97
R9671:Vmn2r4	UTSW	3	64,317,271 (GRCm39)	missense	probably benign	0.00
R9778:Vmn2r4	UTSW	3	64,322,497 (GRCm39)	missense	probably benign	0.15
X0019:Vmn2r4	UTSW	3	64,314,057 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAATAGTTATCTGGCAGCTGGC -3'
(R):5'- GTTGTTCATAGGCAAGCCATG -3'

Sequencing Primer
(F):5'- CTGGCGAGCCACAAAGGTG -3'
(R):5'- TGCAACTGGTCCTGCAAGAC -3'

Posted On

2019-05-13