Incidental Mutation 'R6594:Vmn2r4'
| ID |
524737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r4
|
| Ensembl Gene |
ENSMUSG00000092049 |
| Gene Name |
vomeronasal 2, receptor 4 |
| Synonyms |
EG637053 |
| MMRRC Submission |
044718-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6594 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
64295982-64322741 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64296731 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 685
(S685P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135228
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000170280]
[ENSMUST00000175724]
|
| AlphaFold |
K7N784 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170280
AA Change: S596P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127513
Gene: ENSMUSG00000092049
AA Change: S596P
| 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 damaging
Transcript: ENSMUST00000175724
AA Change: S685P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000135228
Gene: ENSMUSG00000092049
AA Change: S685P
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (52/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
C |
6: 23,113,432 (GRCm39) |
N296S |
probably benign |
Het |
| Abca13 |
A |
T |
11: 9,244,632 (GRCm39) |
N2165I |
possibly damaging |
Het |
| Anpep |
T |
A |
7: 79,491,109 (GRCm39) |
|
probably null |
Het |
| Bcl2a1b |
A |
C |
9: 89,089,647 (GRCm39) |
I145L |
probably benign |
Het |
| Ccar2 |
G |
A |
14: 70,377,925 (GRCm39) |
L687F |
probably damaging |
Het |
| Cd69 |
A |
G |
6: 129,246,537 (GRCm39) |
|
probably null |
Het |
| Chchd10 |
A |
C |
10: 75,772,158 (GRCm39) |
Q43P |
probably damaging |
Het |
| Ddx55 |
A |
G |
5: 124,704,988 (GRCm39) |
E415G |
probably damaging |
Het |
| Defa41 |
A |
G |
8: 21,692,471 (GRCm39) |
|
probably null |
Het |
| Dhx40 |
A |
T |
11: 86,676,599 (GRCm39) |
C172S |
possibly damaging |
Het |
| Epha1 |
G |
A |
6: 42,341,625 (GRCm39) |
T475I |
probably benign |
Het |
| Eri1 |
T |
C |
8: 35,949,687 (GRCm39) |
T91A |
probably damaging |
Het |
| Fscn1 |
C |
T |
5: 142,955,783 (GRCm39) |
A158V |
probably benign |
Het |
| Gm11437 |
C |
T |
11: 84,055,386 (GRCm39) |
G77R |
probably null |
Het |
| Golm1 |
T |
C |
13: 59,812,041 (GRCm39) |
N94D |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Haus4 |
C |
A |
14: 54,781,268 (GRCm39) |
E269D |
possibly damaging |
Het |
| Hyou1 |
T |
C |
9: 44,300,619 (GRCm39) |
M896T |
probably benign |
Het |
| Itpr2 |
T |
A |
6: 146,091,978 (GRCm39) |
M2174L |
possibly damaging |
Het |
| Kars1 |
T |
C |
8: 112,720,299 (GRCm39) |
|
probably benign |
Het |
| Kif1a |
T |
C |
1: 92,949,035 (GRCm39) |
M1488V |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,270,267 (GRCm39) |
T4106A |
possibly damaging |
Het |
| Lrrc20 |
G |
A |
10: 61,318,225 (GRCm39) |
V16I |
possibly damaging |
Het |
| Mecr |
T |
A |
4: 131,582,004 (GRCm39) |
V162E |
probably damaging |
Het |
| Ms4a4a |
C |
A |
19: 11,363,778 (GRCm39) |
A102E |
probably damaging |
Het |
| Mycn |
T |
C |
12: 12,990,051 (GRCm39) |
D115G |
probably damaging |
Het |
| Ninj2 |
A |
T |
6: 120,175,750 (GRCm39) |
T138S |
possibly damaging |
Het |
| Oasl2 |
G |
A |
5: 115,044,836 (GRCm39) |
V121I |
probably benign |
Het |
| Or10s1 |
T |
C |
9: 39,986,239 (GRCm39) |
L216P |
probably damaging |
Het |
| Or2r11 |
A |
T |
6: 42,437,309 (GRCm39) |
S215T |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,127 (GRCm39) |
F61S |
probably damaging |
Het |
| Pcdha11 |
A |
C |
18: 37,144,235 (GRCm39) |
I109L |
probably benign |
Het |
| Pira1 |
T |
A |
7: 3,739,498 (GRCm39) |
K457* |
probably null |
Het |
| Pon1 |
A |
G |
6: 5,185,314 (GRCm39) |
L62P |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,269,126 (GRCm39) |
K1571* |
probably null |
Het |
| Sec24d |
G |
T |
3: 123,087,412 (GRCm39) |
G193C |
probably damaging |
Het |
| Sema3b |
A |
T |
9: 107,476,025 (GRCm39) |
M732K |
probably benign |
Het |
| Serpinb8 |
T |
C |
1: 107,525,201 (GRCm39) |
M1T |
probably null |
Het |
| Sgip1 |
T |
A |
4: 102,819,676 (GRCm39) |
V594E |
probably damaging |
Het |
| Slc3a2 |
T |
C |
19: 8,685,410 (GRCm39) |
S197G |
probably damaging |
Het |
| Slc44a5 |
T |
C |
3: 153,964,660 (GRCm39) |
V520A |
possibly damaging |
Het |
| Surf6 |
G |
T |
2: 26,792,761 (GRCm39) |
D13E |
possibly damaging |
Het |
| Tmem94 |
G |
A |
11: 115,689,112 (GRCm39) |
R1341H |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,018,994 (GRCm39) |
R395Q |
probably benign |
Het |
| Traf7 |
A |
G |
17: 24,728,813 (GRCm39) |
V591A |
possibly damaging |
Het |
| Trim72 |
T |
C |
7: 127,609,220 (GRCm39) |
S341P |
probably damaging |
Het |
| Trps1 |
A |
G |
15: 50,694,351 (GRCm39) |
V398A |
probably damaging |
Het |
| Ube2m |
C |
A |
7: 12,771,617 (GRCm39) |
E14* |
probably null |
Het |
| Unc119 |
T |
A |
11: 78,238,046 (GRCm39) |
Y10N |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,642,995 (GRCm39) |
L4119P |
possibly damaging |
Het |
| Vcp |
A |
T |
4: 42,993,826 (GRCm39) |
I102N |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,486,535 (GRCm39) |
M787V |
possibly damaging |
Het |
| Vmn2r72 |
T |
C |
7: 85,398,892 (GRCm39) |
H487R |
probably benign |
Het |
| Xcr1 |
A |
G |
9: 123,685,309 (GRCm39) |
I151T |
probably benign |
Het |
| Zfp658 |
T |
C |
7: 43,216,701 (GRCm39) |
S24P |
possibly damaging |
Het |
| Zfyve16 |
T |
C |
13: 92,650,326 (GRCm39) |
D886G |
probably benign |
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 |
|
R7049:Vmn2r4
|
UTSW |
3 |
64,296,550 (GRCm39) |
missense |
probably benign |
0.14 |
|
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'- TGTGCATACACCAATCTCCC -3'
(R):5'- TTCCTTGCTTATGAGGAGGC -3'
Sequencing Primer
(F):5'- TGCATACACCAATCTCCCCTACAAC -3'
(R):5'- GCTTATGAGGAGGCCCTGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation