Incidental Mutation 'R3845:Vmn2r124'
| ID |
277350 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r124
|
| Ensembl Gene |
ENSMUSG00000094396 |
| Gene Name |
vomeronasal 2, receptor 124 |
| Synonyms |
Vmn2r-ps113, Gm7196 |
| MMRRC Submission |
040893-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
R3845 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
18269746-18294482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18293953 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 680
(V680D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176802]
[ENSMUST00000231546]
|
| AlphaFold |
K7N789 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176802
AA Change: V680D
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000135613
Gene: ENSMUSG00000094396
AA Change: V680D
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
84 |
449 |
2.2e-37 |
PFAM |
|
Pfam:NCD3G
|
510 |
563 |
9.3e-21 |
PFAM |
|
Pfam:7tm_3
|
596 |
831 |
1.6e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000231546
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (45/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
C |
8: 44,079,669 (GRCm39) |
N185S |
probably benign |
Het |
| Apool |
A |
T |
X: 111,274,155 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,416,540 (GRCm39) |
N439S |
probably null |
Het |
| AU041133 |
T |
A |
10: 81,987,152 (GRCm39) |
H268Q |
probably damaging |
Het |
| Ccdc136 |
C |
T |
6: 29,417,176 (GRCm39) |
R666W |
probably benign |
Het |
| Ccdc97 |
T |
C |
7: 25,414,453 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,839,583 (GRCm39) |
V336A |
possibly damaging |
Het |
| Chd3 |
T |
C |
11: 69,237,585 (GRCm39) |
N1870D |
possibly damaging |
Het |
| Col5a3 |
C |
T |
9: 20,719,673 (GRCm39) |
D229N |
unknown |
Het |
| Cpn1 |
G |
T |
19: 43,962,523 (GRCm39) |
P142Q |
possibly damaging |
Het |
| Cubn |
T |
C |
2: 13,287,819 (GRCm39) |
D3420G |
probably damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,087,135 (GRCm39) |
F482S |
possibly damaging |
Het |
| Foxo1 |
T |
A |
3: 52,253,701 (GRCm39) |
D621E |
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,322,826 (GRCm39) |
M609V |
possibly damaging |
Het |
| Hsd17b3 |
A |
T |
13: 64,236,876 (GRCm39) |
F23I |
possibly damaging |
Het |
| Kcnk10 |
A |
G |
12: 98,407,003 (GRCm39) |
I217T |
probably benign |
Het |
| Mis18bp1 |
G |
A |
12: 65,195,916 (GRCm39) |
S616L |
possibly damaging |
Het |
| Mtch1 |
A |
T |
17: 29,561,806 (GRCm39) |
F133I |
probably damaging |
Het |
| Myh4 |
T |
A |
11: 67,149,931 (GRCm39) |
V1830E |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,689,237 (GRCm39) |
M347V |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 55,993,713 (GRCm39) |
|
probably benign |
Het |
| Nhej1 |
A |
T |
1: 75,008,042 (GRCm39) |
D76E |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or5m12 |
A |
C |
2: 85,735,081 (GRCm39) |
C106G |
probably damaging |
Het |
| Pias3 |
T |
C |
3: 96,609,526 (GRCm39) |
V307A |
probably benign |
Het |
| Pltp |
T |
A |
2: 164,696,208 (GRCm39) |
M135L |
probably benign |
Het |
| Plxna2 |
A |
G |
1: 194,476,098 (GRCm39) |
Y1106C |
probably damaging |
Het |
| Pramel26 |
T |
C |
4: 143,538,545 (GRCm39) |
E142G |
probably damaging |
Het |
| Ptgir |
G |
A |
7: 16,641,311 (GRCm39) |
R201H |
probably damaging |
Het |
| Ptk7 |
A |
T |
17: 46,897,344 (GRCm39) |
D329E |
probably benign |
Het |
| Pygl |
T |
C |
12: 70,245,217 (GRCm39) |
D411G |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,138,069 (GRCm39) |
M72K |
probably damaging |
Het |
| Sfrp1 |
T |
C |
8: 23,902,264 (GRCm39) |
L155P |
probably damaging |
Het |
| Slc5a4a |
A |
G |
10: 76,024,983 (GRCm39) |
E620G |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,698,273 (GRCm39) |
I1314V |
probably benign |
Het |
| Tas2r109 |
G |
A |
6: 132,957,766 (GRCm39) |
L55F |
probably damaging |
Het |
| Tek |
T |
A |
4: 94,693,109 (GRCm39) |
C274S |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,584,532 (GRCm39) |
N330S |
probably benign |
Het |
| Tent4b |
A |
T |
8: 88,977,292 (GRCm39) |
I322F |
possibly damaging |
Het |
| Tmem38b |
T |
A |
4: 53,859,905 (GRCm39) |
D228E |
probably benign |
Het |
| Topbp1 |
T |
C |
9: 103,187,122 (GRCm39) |
V109A |
possibly damaging |
Het |
| Trbv5 |
A |
G |
6: 41,039,682 (GRCm39) |
I96V |
probably benign |
Het |
| Trim16 |
T |
G |
11: 62,727,498 (GRCm39) |
|
probably benign |
Het |
| Upf3a |
A |
T |
8: 13,848,238 (GRCm39) |
T345S |
probably benign |
Het |
| Usp15 |
A |
G |
10: 122,955,040 (GRCm39) |
S913P |
probably damaging |
Het |
| Vmn2r91 |
G |
A |
17: 18,327,860 (GRCm39) |
V485I |
probably benign |
Het |
| Zdbf2 |
A |
T |
1: 63,347,483 (GRCm39) |
H1954L |
possibly damaging |
Het |
|
| Other mutations in Vmn2r124 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00988:Vmn2r124
|
APN |
17 |
18,282,932 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01356:Vmn2r124
|
APN |
17 |
18,293,733 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01387:Vmn2r124
|
APN |
17 |
18,283,188 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01413:Vmn2r124
|
APN |
17 |
18,282,827 (GRCm39) |
missense |
probably benign |
0.41 |
|
IGL01550:Vmn2r124
|
APN |
17 |
18,283,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01759:Vmn2r124
|
APN |
17 |
18,284,330 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01762:Vmn2r124
|
APN |
17 |
18,283,434 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02132:Vmn2r124
|
APN |
17 |
18,284,491 (GRCm39) |
splice site |
probably benign |
|
|
IGL02290:Vmn2r124
|
APN |
17 |
18,293,597 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02370:Vmn2r124
|
APN |
17 |
18,284,453 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02527:Vmn2r124
|
APN |
17 |
18,286,764 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
PIT4280001:Vmn2r124
|
UTSW |
17 |
18,283,487 (GRCm39) |
missense |
probably benign |
0.22 |
|
PIT4514001:Vmn2r124
|
UTSW |
17 |
18,293,974 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0362:Vmn2r124
|
UTSW |
17 |
18,284,486 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0401:Vmn2r124
|
UTSW |
17 |
18,284,407 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0513:Vmn2r124
|
UTSW |
17 |
18,293,991 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1139:Vmn2r124
|
UTSW |
17 |
18,294,052 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R1513:Vmn2r124
|
UTSW |
17 |
18,283,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1669:Vmn2r124
|
UTSW |
17 |
18,283,206 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1710:Vmn2r124
|
UTSW |
17 |
18,282,187 (GRCm39) |
splice site |
probably benign |
|
|
R1852:Vmn2r124
|
UTSW |
17 |
18,283,436 (GRCm39) |
missense |
probably benign |
|
|
R1860:Vmn2r124
|
UTSW |
17 |
18,269,759 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1953:Vmn2r124
|
UTSW |
17 |
18,283,122 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2233:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2234:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2235:Vmn2r124
|
UTSW |
17 |
18,269,927 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2397:Vmn2r124
|
UTSW |
17 |
18,269,859 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2519:Vmn2r124
|
UTSW |
17 |
18,294,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3846:Vmn2r124
|
UTSW |
17 |
18,293,953 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4594:Vmn2r124
|
UTSW |
17 |
18,294,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4612:Vmn2r124
|
UTSW |
17 |
18,283,284 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4790:Vmn2r124
|
UTSW |
17 |
18,269,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4809:Vmn2r124
|
UTSW |
17 |
18,294,007 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5227:Vmn2r124
|
UTSW |
17 |
18,269,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5254:Vmn2r124
|
UTSW |
17 |
18,283,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5609:Vmn2r124
|
UTSW |
17 |
18,294,102 (GRCm39) |
missense |
probably benign |
|
|
R6145:Vmn2r124
|
UTSW |
17 |
18,283,113 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6181:Vmn2r124
|
UTSW |
17 |
18,294,019 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6271:Vmn2r124
|
UTSW |
17 |
18,283,145 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7297:Vmn2r124
|
UTSW |
17 |
18,293,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7397:Vmn2r124
|
UTSW |
17 |
18,282,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7406:Vmn2r124
|
UTSW |
17 |
18,282,306 (GRCm39) |
missense |
unknown |
|
|
R7699:Vmn2r124
|
UTSW |
17 |
18,293,985 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7859:Vmn2r124
|
UTSW |
17 |
18,282,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8121:Vmn2r124
|
UTSW |
17 |
18,282,433 (GRCm39) |
missense |
probably benign |
|
|
R8138:Vmn2r124
|
UTSW |
17 |
18,283,610 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8756:Vmn2r124
|
UTSW |
17 |
18,294,094 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8796:Vmn2r124
|
UTSW |
17 |
18,282,933 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8841:Vmn2r124
|
UTSW |
17 |
18,283,299 (GRCm39) |
missense |
|
|
|
R8960:Vmn2r124
|
UTSW |
17 |
18,283,291 (GRCm39) |
nonsense |
probably null |
|
|
R8970:Vmn2r124
|
UTSW |
17 |
18,294,439 (GRCm39) |
missense |
probably benign |
|
|
R9128:Vmn2r124
|
UTSW |
17 |
18,294,439 (GRCm39) |
missense |
probably benign |
|
|
R9566:Vmn2r124
|
UTSW |
17 |
18,293,581 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9680:Vmn2r124
|
UTSW |
17 |
18,293,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGTGAAACACAGAGACACTCC -3'
(R):5'- AGCCCTTGTTGCACAAAATG -3'
Sequencing Primer
(F):5'- GAGACACTCCTATTGTCAAGGC -3'
(R):5'- GCCCTTGTTGCACAAAATGATGATG -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation