Incidental Mutation 'R6362:Vmn2r72'
| ID |
512515 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r72
|
| Ensembl Gene |
ENSMUSG00000051877 |
| Gene Name |
vomeronasal 2, receptor 72 |
| Synonyms |
EG244114, Vmn2r72-ps |
| MMRRC Submission |
044512-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R6362 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
85386992-85404189 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 85400382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 222
(F222L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133014
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063425]
|
| AlphaFold |
D3Z4N8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000063425
AA Change: F222L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133014
Gene: ENSMUSG00000051877
AA Change: F222L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
82 |
469 |
2.3e-28 |
PFAM |
|
Pfam:NCD3G
|
512 |
564 |
1.2e-18 |
PFAM |
|
Pfam:7tm_3
|
594 |
832 |
4e-53 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 96.0%
|
| Validation Efficiency |
99% (78/79) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh5a1 |
T |
G |
13: 25,102,533 (GRCm39) |
D310A |
probably benign |
Het |
| Als2cl |
T |
A |
9: 110,724,514 (GRCm39) |
|
probably null |
Het |
| Amacr |
C |
A |
15: 10,984,891 (GRCm39) |
R170S |
probably damaging |
Het |
| Brwd1 |
C |
T |
16: 95,803,507 (GRCm39) |
R2221Q |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,330,533 (GRCm39) |
|
probably null |
Het |
| Cd3d |
G |
A |
9: 44,897,589 (GRCm39) |
D157N |
probably damaging |
Het |
| Cep131 |
T |
C |
11: 119,955,516 (GRCm39) |
D1043G |
probably damaging |
Het |
| Cimip1 |
T |
G |
2: 173,369,967 (GRCm39) |
|
probably null |
Het |
| Cit |
A |
G |
5: 116,024,735 (GRCm39) |
D326G |
probably benign |
Het |
| Col16a1 |
G |
C |
4: 129,959,983 (GRCm39) |
G370R |
unknown |
Het |
| Col6a3 |
T |
A |
1: 90,738,285 (GRCm39) |
Y1078F |
probably damaging |
Het |
| Colgalt2 |
A |
C |
1: 152,347,549 (GRCm39) |
Y161S |
probably damaging |
Het |
| Cyp2j13 |
A |
G |
4: 95,959,932 (GRCm39) |
Y75H |
probably damaging |
Het |
| Daxx |
G |
A |
17: 34,130,338 (GRCm39) |
V118I |
probably damaging |
Het |
| Dennd5a |
G |
T |
7: 109,533,472 (GRCm39) |
C75* |
probably null |
Het |
| Diaph3 |
A |
G |
14: 87,009,566 (GRCm39) |
L1071P |
probably damaging |
Het |
| Disp3 |
A |
G |
4: 148,338,765 (GRCm39) |
L802P |
possibly damaging |
Het |
| Dmc1 |
A |
G |
15: 79,473,024 (GRCm39) |
V141A |
probably benign |
Het |
| Dsc2 |
A |
T |
18: 20,168,520 (GRCm39) |
Y45* |
probably null |
Het |
| Dspp |
A |
G |
5: 104,323,900 (GRCm39) |
I348V |
probably benign |
Het |
| Epb42 |
C |
A |
2: 120,856,260 (GRCm39) |
C428F |
possibly damaging |
Het |
| Fam227a |
G |
T |
15: 79,527,551 (GRCm39) |
P100Q |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,890,170 (GRCm39) |
V252I |
probably benign |
Het |
| Fhod1 |
C |
A |
8: 106,058,273 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
G |
T |
18: 24,887,312 (GRCm39) |
A68S |
probably benign |
Het |
| Gatm |
T |
C |
2: 122,428,677 (GRCm39) |
D328G |
probably benign |
Het |
| Gm6401 |
G |
T |
14: 41,789,727 (GRCm39) |
H44N |
probably benign |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gpr84 |
G |
A |
15: 103,216,937 (GRCm39) |
A380V |
probably damaging |
Het |
| Herc1 |
G |
T |
9: 66,379,190 (GRCm39) |
W3492L |
probably damaging |
Het |
| Hjurp |
A |
T |
1: 88,202,772 (GRCm39) |
Y71N |
possibly damaging |
Het |
| Jag2 |
T |
A |
12: 112,883,742 (GRCm39) |
K246N |
probably damaging |
Het |
| Klhl32 |
T |
C |
4: 24,629,195 (GRCm39) |
D524G |
probably null |
Het |
| Lax1 |
A |
G |
1: 133,608,334 (GRCm39) |
S136P |
possibly damaging |
Het |
| Lefty1 |
A |
G |
1: 180,764,725 (GRCm39) |
K217E |
probably benign |
Het |
| Lgr5 |
A |
G |
10: 115,314,430 (GRCm39) |
L169P |
probably damaging |
Het |
| Lrrc37 |
G |
C |
11: 103,511,478 (GRCm39) |
N163K |
unknown |
Het |
| Mad1l1 |
A |
T |
5: 140,300,810 (GRCm39) |
S29T |
possibly damaging |
Het |
| Man1a |
T |
C |
10: 53,950,891 (GRCm39) |
H77R |
probably benign |
Het |
| Met |
C |
T |
6: 17,558,732 (GRCm39) |
S1120F |
probably damaging |
Het |
| Mfsd4b2 |
A |
T |
10: 39,797,605 (GRCm39) |
I250N |
probably damaging |
Het |
| Myod1 |
A |
G |
7: 46,026,305 (GRCm39) |
H70R |
possibly damaging |
Het |
| Neb |
T |
C |
2: 52,102,704 (GRCm39) |
N4280S |
probably benign |
Het |
| Nudt6 |
T |
C |
3: 37,473,638 (GRCm39) |
T28A |
possibly damaging |
Het |
| Nup85 |
A |
G |
11: 115,474,560 (GRCm39) |
E628G |
probably damaging |
Het |
| Oaz3 |
A |
T |
3: 94,342,295 (GRCm39) |
D120E |
probably damaging |
Het |
| Or2y3 |
A |
T |
17: 38,393,620 (GRCm39) |
M83K |
probably damaging |
Het |
| Or5b102 |
A |
T |
19: 13,040,709 (GRCm39) |
|
probably benign |
Het |
| Or5be3 |
C |
T |
2: 86,863,633 (GRCm39) |
A311T |
probably benign |
Het |
| Or5m8 |
C |
A |
2: 85,822,285 (GRCm39) |
N41K |
probably damaging |
Het |
| Or6c1b |
A |
C |
10: 129,272,812 (GRCm39) |
I44L |
probably damaging |
Het |
| Osbpl8 |
A |
T |
10: 111,108,929 (GRCm39) |
K404* |
probably null |
Het |
| Pcdhga2 |
A |
G |
18: 37,803,958 (GRCm39) |
N601D |
probably damaging |
Het |
| Pld2 |
T |
C |
11: 70,445,501 (GRCm39) |
Y638H |
probably damaging |
Het |
| Pramel27 |
A |
G |
4: 143,579,435 (GRCm39) |
Y340C |
probably damaging |
Het |
| Prickle2 |
C |
G |
6: 92,435,596 (GRCm39) |
V2L |
possibly damaging |
Het |
| Psmd6 |
G |
A |
14: 14,116,949 (GRCm38) |
R125C |
probably benign |
Het |
| Rnaset2b |
G |
A |
17: 7,259,093 (GRCm39) |
V24I |
probably benign |
Het |
| Rusc2 |
A |
T |
4: 43,416,416 (GRCm39) |
D574V |
probably benign |
Het |
| Scn8a |
T |
A |
15: 100,837,996 (GRCm39) |
|
probably null |
Het |
| Sec11a |
T |
C |
7: 80,572,879 (GRCm39) |
E134G |
probably benign |
Het |
| Senp5 |
A |
G |
16: 31,808,702 (GRCm39) |
V157A |
probably damaging |
Het |
| Shkbp1 |
C |
T |
7: 27,051,120 (GRCm39) |
|
probably null |
Het |
| Slc43a1 |
T |
C |
2: 84,690,128 (GRCm39) |
L435P |
probably damaging |
Het |
| Spn |
G |
A |
7: 126,735,895 (GRCm39) |
P204L |
possibly damaging |
Het |
| Srr |
T |
A |
11: 74,801,028 (GRCm39) |
Q173L |
probably damaging |
Het |
| Star |
C |
G |
8: 26,301,835 (GRCm39) |
T222S |
probably benign |
Het |
| Timm22 |
T |
A |
11: 76,301,953 (GRCm39) |
Y93N |
probably damaging |
Het |
| Tmc4 |
G |
T |
7: 3,678,458 (GRCm39) |
Q58K |
probably benign |
Het |
| Tmem86b |
C |
T |
7: 4,632,835 (GRCm39) |
M1I |
probably null |
Het |
| Tmtc2 |
A |
T |
10: 105,205,831 (GRCm39) |
I488N |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,913,362 (GRCm39) |
Y1792F |
probably damaging |
Het |
| Tph1 |
T |
A |
7: 46,296,867 (GRCm39) |
R443W |
possibly damaging |
Het |
| Ttyh1 |
T |
A |
7: 4,132,323 (GRCm39) |
V253E |
possibly damaging |
Het |
| Usf3 |
A |
G |
16: 44,038,940 (GRCm39) |
D1140G |
probably benign |
Het |
| Usp10 |
T |
C |
8: 120,668,055 (GRCm39) |
S118P |
probably benign |
Het |
| Vmn2r63 |
C |
T |
7: 42,552,721 (GRCm39) |
C845Y |
probably benign |
Het |
| Zfp654 |
G |
A |
16: 64,606,457 (GRCm39) |
Q582* |
probably null |
Het |
| Zfp791 |
C |
T |
8: 85,846,279 (GRCm39) |
|
probably benign |
Het |
| Zfp879 |
T |
A |
11: 50,729,302 (GRCm39) |
D32V |
probably damaging |
Het |
|
| Other mutations in Vmn2r72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00931:Vmn2r72
|
APN |
7 |
85,398,854 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01019:Vmn2r72
|
APN |
7 |
85,387,542 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL01445:Vmn2r72
|
APN |
7 |
85,398,854 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02076:Vmn2r72
|
APN |
7 |
85,387,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02082:Vmn2r72
|
APN |
7 |
85,387,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02086:Vmn2r72
|
APN |
7 |
85,387,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02089:Vmn2r72
|
APN |
7 |
85,387,374 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02125:Vmn2r72
|
APN |
7 |
85,399,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02146:Vmn2r72
|
APN |
7 |
85,387,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Vmn2r72
|
APN |
7 |
85,399,901 (GRCm39) |
missense |
probably benign |
|
|
IGL02514:Vmn2r72
|
APN |
7 |
85,387,907 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02662:Vmn2r72
|
APN |
7 |
85,387,391 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02697:Vmn2r72
|
APN |
7 |
85,387,879 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL02733:Vmn2r72
|
APN |
7 |
85,401,021 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03070:Vmn2r72
|
APN |
7 |
85,401,249 (GRCm39) |
splice site |
probably benign |
|
|
IGL03150:Vmn2r72
|
APN |
7 |
85,400,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03159:Vmn2r72
|
APN |
7 |
85,404,162 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03333:Vmn2r72
|
APN |
7 |
85,400,075 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0081:Vmn2r72
|
UTSW |
7 |
85,401,044 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0090:Vmn2r72
|
UTSW |
7 |
85,404,084 (GRCm39) |
missense |
probably benign |
|
|
R0655:Vmn2r72
|
UTSW |
7 |
85,387,319 (GRCm39) |
nonsense |
probably null |
|
|
R0778:Vmn2r72
|
UTSW |
7 |
85,398,947 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1169:Vmn2r72
|
UTSW |
7 |
85,400,517 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1172:Vmn2r72
|
UTSW |
7 |
85,401,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1173:Vmn2r72
|
UTSW |
7 |
85,401,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1175:Vmn2r72
|
UTSW |
7 |
85,401,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1248:Vmn2r72
|
UTSW |
7 |
85,398,396 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1302:Vmn2r72
|
UTSW |
7 |
85,387,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1506:Vmn2r72
|
UTSW |
7 |
85,398,419 (GRCm39) |
missense |
probably benign |
|
|
R1632:Vmn2r72
|
UTSW |
7 |
85,401,000 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1775:Vmn2r72
|
UTSW |
7 |
85,387,378 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1962:Vmn2r72
|
UTSW |
7 |
85,398,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2201:Vmn2r72
|
UTSW |
7 |
85,387,444 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2290:Vmn2r72
|
UTSW |
7 |
85,387,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2327:Vmn2r72
|
UTSW |
7 |
85,387,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2424:Vmn2r72
|
UTSW |
7 |
85,400,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2655:Vmn2r72
|
UTSW |
7 |
85,400,477 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2860:Vmn2r72
|
UTSW |
7 |
85,400,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2861:Vmn2r72
|
UTSW |
7 |
85,400,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2862:Vmn2r72
|
UTSW |
7 |
85,400,044 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3009:Vmn2r72
|
UTSW |
7 |
85,398,850 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3797:Vmn2r72
|
UTSW |
7 |
85,387,285 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3798:Vmn2r72
|
UTSW |
7 |
85,387,285 (GRCm39) |
missense |
probably benign |
0.44 |
|
R3902:Vmn2r72
|
UTSW |
7 |
85,398,943 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3959:Vmn2r72
|
UTSW |
7 |
85,400,339 (GRCm39) |
missense |
probably benign |
0.36 |
|
R3974:Vmn2r72
|
UTSW |
7 |
85,399,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4399:Vmn2r72
|
UTSW |
7 |
85,387,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4421:Vmn2r72
|
UTSW |
7 |
85,387,708 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4426:Vmn2r72
|
UTSW |
7 |
85,387,036 (GRCm39) |
nonsense |
probably null |
|
|
R4522:Vmn2r72
|
UTSW |
7 |
85,401,134 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4523:Vmn2r72
|
UTSW |
7 |
85,401,134 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4533:Vmn2r72
|
UTSW |
7 |
85,401,134 (GRCm39) |
missense |
probably benign |
0.44 |
|
R4691:Vmn2r72
|
UTSW |
7 |
85,387,119 (GRCm39) |
nonsense |
probably null |
|
|
R4781:Vmn2r72
|
UTSW |
7 |
85,387,069 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4863:Vmn2r72
|
UTSW |
7 |
85,399,806 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4952:Vmn2r72
|
UTSW |
7 |
85,400,317 (GRCm39) |
missense |
probably benign |
|
|
R4991:Vmn2r72
|
UTSW |
7 |
85,400,338 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4995:Vmn2r72
|
UTSW |
7 |
85,387,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5095:Vmn2r72
|
UTSW |
7 |
85,387,061 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5174:Vmn2r72
|
UTSW |
7 |
85,387,048 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5276:Vmn2r72
|
UTSW |
7 |
85,387,462 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5395:Vmn2r72
|
UTSW |
7 |
85,400,105 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R5560:Vmn2r72
|
UTSW |
7 |
85,401,150 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5933:Vmn2r72
|
UTSW |
7 |
85,387,058 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6033:Vmn2r72
|
UTSW |
7 |
85,387,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6033:Vmn2r72
|
UTSW |
7 |
85,387,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6354:Vmn2r72
|
UTSW |
7 |
85,399,747 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6594:Vmn2r72
|
UTSW |
7 |
85,398,892 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6794:Vmn2r72
|
UTSW |
7 |
85,387,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7113:Vmn2r72
|
UTSW |
7 |
85,399,011 (GRCm39) |
splice site |
probably null |
|
|
R7189:Vmn2r72
|
UTSW |
7 |
85,404,125 (GRCm39) |
missense |
probably benign |
0.36 |
|
R7266:Vmn2r72
|
UTSW |
7 |
85,387,482 (GRCm39) |
nonsense |
probably null |
|
|
R7323:Vmn2r72
|
UTSW |
7 |
85,399,771 (GRCm39) |
missense |
probably benign |
|
|
R7426:Vmn2r72
|
UTSW |
7 |
85,400,348 (GRCm39) |
missense |
probably benign |
|
|
R7606:Vmn2r72
|
UTSW |
7 |
85,400,362 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7651:Vmn2r72
|
UTSW |
7 |
85,401,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7688:Vmn2r72
|
UTSW |
7 |
85,404,098 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7753:Vmn2r72
|
UTSW |
7 |
85,399,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7843:Vmn2r72
|
UTSW |
7 |
85,398,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8157:Vmn2r72
|
UTSW |
7 |
85,400,441 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8254:Vmn2r72
|
UTSW |
7 |
85,400,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8389:Vmn2r72
|
UTSW |
7 |
85,401,168 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8444:Vmn2r72
|
UTSW |
7 |
85,387,383 (GRCm39) |
missense |
probably benign |
|
|
R8989:Vmn2r72
|
UTSW |
7 |
85,404,134 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9015:Vmn2r72
|
UTSW |
7 |
85,398,388 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9080:Vmn2r72
|
UTSW |
7 |
85,387,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9269:Vmn2r72
|
UTSW |
7 |
85,400,411 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9317:Vmn2r72
|
UTSW |
7 |
85,404,022 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9509:Vmn2r72
|
UTSW |
7 |
85,404,075 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Vmn2r72
|
UTSW |
7 |
85,398,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTATGGGAGAGGCATAGTCTC -3'
(R):5'- GCTAAAGCACACTCTACATCATGTTC -3'
Sequencing Primer
(F):5'- GAGAGGCATAGTCTCCATAAACTATC -3'
(R):5'- TTTTTCAGCTTTACTGCGGTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation