Incidental Mutation 'R7721:Vmn2r18'
| ID |
595220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r18
|
| Ensembl Gene |
ENSMUSG00000091794 |
| Gene Name |
vomeronasal 2, receptor 18 |
| Synonyms |
EG632671 |
| MMRRC Submission |
045777-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.082)
|
| Stock # |
R7721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
151485126-151529232 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 151510158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 72
(E72K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127506
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165928]
|
| AlphaFold |
A0A3B2WB67 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165928
AA Change: E72K
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000127506
Gene: ENSMUSG00000091794
AA Change: E72K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ANF_receptor
|
1 |
403 |
5.7e-39 |
PFAM |
|
Pfam:NCD3G
|
446 |
499 |
5.5e-20 |
PFAM |
|
Pfam:7tm_3
|
531 |
767 |
5e-53 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,784,929 (GRCm39) |
|
probably null |
Het |
| Adamtsl3 |
T |
G |
7: 82,255,728 (GRCm39) |
M1580R |
possibly damaging |
Het |
| Alg9 |
T |
C |
9: 50,687,942 (GRCm39) |
I78T |
probably damaging |
Het |
| Ankmy2 |
G |
T |
12: 36,207,143 (GRCm39) |
|
probably benign |
Het |
| Ankrd11 |
G |
T |
8: 123,621,498 (GRCm39) |
L785M |
probably damaging |
Het |
| Atrnl1 |
T |
A |
19: 57,684,763 (GRCm39) |
D796E |
probably benign |
Het |
| C1s2 |
A |
G |
6: 124,607,017 (GRCm39) |
V277A |
possibly damaging |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,503,383 (GRCm39) |
I107T |
probably benign |
Het |
| Cldn15 |
A |
G |
5: 136,997,015 (GRCm39) |
M19V |
probably benign |
Het |
| Cldn23 |
T |
G |
8: 36,293,417 (GRCm39) |
S24R |
possibly damaging |
Het |
| Cnr1 |
T |
A |
4: 33,944,416 (GRCm39) |
I268N |
probably damaging |
Het |
| Csf2ra |
A |
T |
19: 61,215,024 (GRCm39) |
W147R |
probably damaging |
Het |
| Ctsb |
G |
T |
14: 63,370,765 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,088,874 (GRCm39) |
M34T |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,176,564 (GRCm39) |
I463V |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,670,842 (GRCm39) |
D470V |
probably benign |
Het |
| Dtx4 |
A |
G |
19: 12,459,500 (GRCm39) |
S435P |
probably benign |
Het |
| Ear2 |
T |
A |
14: 44,340,495 (GRCm39) |
M51K |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,615,366 (GRCm39) |
L711* |
probably null |
Het |
| Elmo1 |
T |
A |
13: 20,464,973 (GRCm39) |
|
probably null |
Het |
| Faf1 |
T |
A |
4: 109,593,794 (GRCm39) |
I124N |
probably damaging |
Het |
| Gkap1 |
A |
C |
13: 58,384,799 (GRCm39) |
|
probably null |
Het |
| Glipr2 |
T |
C |
4: 43,957,770 (GRCm39) |
S4P |
probably benign |
Het |
| Gm38119 |
A |
T |
3: 92,645,337 (GRCm39) |
C86S |
unknown |
Het |
| Gpr171 |
T |
G |
3: 59,005,320 (GRCm39) |
I152L |
probably benign |
Het |
| Hes7 |
T |
A |
11: 69,012,352 (GRCm39) |
T9S |
unknown |
Het |
| Homer3 |
T |
C |
8: 70,743,662 (GRCm39) |
V180A |
probably benign |
Het |
| Irx1 |
T |
A |
13: 72,108,176 (GRCm39) |
M169L |
probably benign |
Het |
| Kap |
A |
G |
6: 133,828,690 (GRCm39) |
|
probably null |
Het |
| Mgat5b |
A |
G |
11: 116,857,627 (GRCm39) |
M2V |
|
Het |
| Mob4 |
C |
T |
1: 55,187,479 (GRCm39) |
Q76* |
probably null |
Het |
| Or10w3 |
T |
A |
19: 13,704,207 (GRCm39) |
I194N |
possibly damaging |
Het |
| Or8b47 |
A |
T |
9: 38,435,013 (GRCm39) |
|
probably null |
Het |
| Or8g26 |
A |
G |
9: 39,096,056 (GRCm39) |
D191G |
probably benign |
Het |
| Pate14 |
C |
T |
9: 36,549,159 (GRCm39) |
G34R |
possibly damaging |
Het |
| Pcdha9 |
A |
T |
18: 37,132,689 (GRCm39) |
Q586L |
probably benign |
Het |
| Pgk2 |
T |
A |
17: 40,518,409 (GRCm39) |
I340F |
probably benign |
Het |
| Prex1 |
G |
A |
2: 166,419,810 (GRCm39) |
Q1289* |
probably null |
Het |
| Prr22 |
A |
G |
17: 57,078,819 (GRCm39) |
D324G |
possibly damaging |
Het |
| Rab2b |
A |
T |
14: 52,501,217 (GRCm39) |
S201T |
probably benign |
Het |
| Rdh1 |
T |
A |
10: 127,596,121 (GRCm39) |
|
probably null |
Het |
| Rhbdl1 |
G |
T |
17: 26,055,123 (GRCm39) |
N82K |
probably benign |
Het |
| Rspo1 |
C |
A |
4: 124,885,210 (GRCm39) |
Q29K |
possibly damaging |
Het |
| Rtp3 |
A |
T |
9: 110,814,948 (GRCm39) |
Y472* |
probably null |
Het |
| Senp5 |
T |
A |
16: 31,809,252 (GRCm39) |
M1L |
unknown |
Het |
| Slfn4 |
A |
T |
11: 83,078,389 (GRCm39) |
|
probably null |
Het |
| Stab1 |
A |
G |
14: 30,863,413 (GRCm39) |
V2091A |
possibly damaging |
Het |
| Stk32c |
A |
G |
7: 138,768,069 (GRCm39) |
S71P |
possibly damaging |
Het |
| Tpr |
A |
G |
1: 150,320,180 (GRCm39) |
T2243A |
probably benign |
Het |
| Tubgcp6 |
A |
T |
15: 88,985,604 (GRCm39) |
N1544K |
probably damaging |
Het |
| Uqcc1 |
T |
C |
2: 155,700,066 (GRCm39) |
N202S |
probably benign |
Het |
| Zfp654 |
C |
A |
16: 64,606,570 (GRCm39) |
C3F |
probably damaging |
Het |
| Zfp804b |
T |
C |
5: 6,821,263 (GRCm39) |
E600G |
possibly damaging |
Het |
|
| Other mutations in Vmn2r18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Vmn2r18
|
APN |
5 |
151,496,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01564:Vmn2r18
|
APN |
5 |
151,508,633 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01602:Vmn2r18
|
APN |
5 |
151,510,106 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01605:Vmn2r18
|
APN |
5 |
151,510,106 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL01619:Vmn2r18
|
APN |
5 |
151,510,229 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02177:Vmn2r18
|
APN |
5 |
151,510,274 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
IGL02682:Vmn2r18
|
APN |
5 |
151,508,102 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02751:Vmn2r18
|
APN |
5 |
151,508,072 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02977:Vmn2r18
|
APN |
5 |
151,510,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0089:Vmn2r18
|
UTSW |
5 |
151,508,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0282:Vmn2r18
|
UTSW |
5 |
151,508,668 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0529:Vmn2r18
|
UTSW |
5 |
151,485,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0812:Vmn2r18
|
UTSW |
5 |
151,496,395 (GRCm39) |
splice site |
probably benign |
|
|
R1467:Vmn2r18
|
UTSW |
5 |
151,510,301 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1467:Vmn2r18
|
UTSW |
5 |
151,510,301 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1506:Vmn2r18
|
UTSW |
5 |
151,499,099 (GRCm39) |
splice site |
probably null |
|
|
R1562:Vmn2r18
|
UTSW |
5 |
151,510,301 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1637:Vmn2r18
|
UTSW |
5 |
151,508,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1651:Vmn2r18
|
UTSW |
5 |
151,485,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:Vmn2r18
|
UTSW |
5 |
151,499,190 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1884:Vmn2r18
|
UTSW |
5 |
151,499,190 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1914:Vmn2r18
|
UTSW |
5 |
151,499,286 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2051:Vmn2r18
|
UTSW |
5 |
151,486,016 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2056:Vmn2r18
|
UTSW |
5 |
151,508,160 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2252:Vmn2r18
|
UTSW |
5 |
151,508,441 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R2265:Vmn2r18
|
UTSW |
5 |
151,510,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2266:Vmn2r18
|
UTSW |
5 |
151,510,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2267:Vmn2r18
|
UTSW |
5 |
151,510,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2843:Vmn2r18
|
UTSW |
5 |
151,485,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3023:Vmn2r18
|
UTSW |
5 |
151,485,148 (GRCm39) |
missense |
probably benign |
0.13 |
|
R3694:Vmn2r18
|
UTSW |
5 |
151,508,033 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3763:Vmn2r18
|
UTSW |
5 |
151,508,644 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3816:Vmn2r18
|
UTSW |
5 |
151,485,148 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4007:Vmn2r18
|
UTSW |
5 |
151,508,711 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4152:Vmn2r18
|
UTSW |
5 |
151,485,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4308:Vmn2r18
|
UTSW |
5 |
151,508,268 (GRCm39) |
nonsense |
probably null |
|
|
R4362:Vmn2r18
|
UTSW |
5 |
151,496,368 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Vmn2r18
|
UTSW |
5 |
151,508,424 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4716:Vmn2r18
|
UTSW |
5 |
151,485,602 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4817:Vmn2r18
|
UTSW |
5 |
151,508,897 (GRCm39) |
splice site |
probably null |
|
|
R5111:Vmn2r18
|
UTSW |
5 |
151,485,913 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5692:Vmn2r18
|
UTSW |
5 |
151,485,724 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6115:Vmn2r18
|
UTSW |
5 |
151,508,462 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6244:Vmn2r18
|
UTSW |
5 |
151,508,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6595:Vmn2r18
|
UTSW |
5 |
151,485,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6997:Vmn2r18
|
UTSW |
5 |
151,485,338 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7227:Vmn2r18
|
UTSW |
5 |
151,496,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7349:Vmn2r18
|
UTSW |
5 |
151,485,682 (GRCm39) |
nonsense |
probably null |
|
|
R7506:Vmn2r18
|
UTSW |
5 |
151,508,485 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7590:Vmn2r18
|
UTSW |
5 |
151,485,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Vmn2r18
|
UTSW |
5 |
151,508,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7882:Vmn2r18
|
UTSW |
5 |
151,485,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7984:Vmn2r18
|
UTSW |
5 |
151,485,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8295:Vmn2r18
|
UTSW |
5 |
151,508,621 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8353:Vmn2r18
|
UTSW |
5 |
151,485,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8453:Vmn2r18
|
UTSW |
5 |
151,485,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8670:Vmn2r18
|
UTSW |
5 |
151,485,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Vmn2r18
|
UTSW |
5 |
151,508,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8727:Vmn2r18
|
UTSW |
5 |
151,508,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8895:Vmn2r18
|
UTSW |
5 |
151,485,140 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9286:Vmn2r18
|
UTSW |
5 |
151,499,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9339:Vmn2r18
|
UTSW |
5 |
151,485,132 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Vmn2r18
|
UTSW |
5 |
151,508,498 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1187:Vmn2r18
|
UTSW |
5 |
151,508,497 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTTGTCAGTGTTTGGATGAAGAATC -3'
(R):5'- TAAGGACACCCACCTGCTTC -3'
Sequencing Primer
(F):5'- CCATTAGTGAACATTGTGGAATCC -3'
(R):5'- GCTTCCCAATGTTACCTTGGG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation