Incidental Mutation 'R5970:Vmn2r104'
| ID |
470829 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r104
|
| Ensembl Gene |
ENSMUSG00000090315 |
| Gene Name |
vomeronasal 2, receptor 104 |
| Synonyms |
V2r7 |
| MMRRC Submission |
044153-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
20029425-20048205 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 20029471 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 846
(I846T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129895
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168050]
|
| AlphaFold |
E9Q2J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168050
AA Change: I846T
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000129895
Gene: ENSMUSG00000090315
AA Change: I846T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
85 |
457 |
4e-38 |
PFAM |
|
Pfam:NCD3G
|
512 |
565 |
2.1e-20 |
PFAM |
|
Pfam:7tm_3
|
598 |
833 |
1.7e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
G |
A |
6: 90,597,046 |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,467,951 |
V413A |
possibly damaging |
Het |
| Amotl1 |
T |
A |
9: 14,596,528 |
D41V |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,340,047 |
V184A |
probably benign |
Het |
| Birc6 |
G |
T |
17: 74,618,502 |
G936V |
possibly damaging |
Het |
| Ccser1 |
T |
A |
6: 61,311,242 |
S130T |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,720,907 |
I56V |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,930,744 |
I486T |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,716,329 |
I1557V |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,945,847 |
I104F |
unknown |
Het |
| Cry2 |
A |
G |
2: 92,412,967 |
S510P |
probably benign |
Het |
| Csmd2 |
G |
C |
4: 128,546,151 |
A3133P |
probably benign |
Het |
| Cyld |
G |
T |
8: 88,732,993 |
A611S |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,825,512 |
G1197E |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,808,729 |
F2969L |
probably benign |
Het |
| Dnaic1 |
A |
G |
4: 41,625,281 |
K415R |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,854,171 |
T1253S |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,195,702 |
L1542P |
possibly damaging |
Het |
| Duox1 |
T |
A |
2: 122,340,201 |
L1234Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 3,968,590 |
R585S |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,699,352 |
|
probably null |
Het |
| Heatr6 |
G |
A |
11: 83,753,718 |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,784 |
D431G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,829,289 |
N1543D |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,625,380 |
K154R |
probably benign |
Het |
| Mical3 |
G |
A |
6: 120,958,271 |
Q893* |
probably null |
Het |
| Morc3 |
C |
T |
16: 93,866,453 |
H515Y |
possibly damaging |
Het |
| Mprip |
A |
T |
11: 59,757,721 |
R750S |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,451,491 |
V1436M |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,790,669 |
R69* |
probably null |
Het |
| Muc5b |
A |
T |
7: 141,856,712 |
Y1274F |
unknown |
Het |
| Mybpc1 |
A |
G |
10: 88,542,456 |
L674P |
probably damaging |
Het |
| Mypn |
A |
G |
10: 63,131,023 |
V958A |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,296,818 |
T2436A |
probably benign |
Het |
| Olfr835 |
A |
G |
9: 19,035,147 |
D8G |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,321,773 |
L402Q |
probably damaging |
Het |
| Pigp |
T |
A |
16: 94,370,194 |
|
probably null |
Het |
| Rp1 |
A |
G |
1: 4,348,462 |
L809P |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,494,781 |
|
probably benign |
Het |
| Sdf2 |
A |
T |
11: 78,246,080 |
M29L |
probably benign |
Het |
| Serpina3b |
T |
G |
12: 104,134,091 |
L311V |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,523,488 |
Y349* |
probably null |
Het |
| Spidr |
A |
C |
16: 16,114,869 |
C182W |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,377,798 |
S146R |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,653,582 |
V145A |
probably damaging |
Het |
| Stradb |
T |
C |
1: 58,980,016 |
|
probably null |
Het |
| Tcp11l2 |
T |
A |
10: 84,594,797 |
|
probably benign |
Het |
| Tfdp2 |
C |
T |
9: 96,317,574 |
P74S |
unknown |
Het |
| Tmprss15 |
C |
T |
16: 79,057,659 |
R287H |
probably benign |
Het |
| Trav10d |
T |
C |
14: 52,811,322 |
Y57H |
probably damaging |
Het |
| Ywhah |
T |
A |
5: 33,026,948 |
M165K |
possibly damaging |
Het |
| Zfp324 |
C |
A |
7: 12,969,366 |
P72T |
probably benign |
Het |
|
| Other mutations in Vmn2r104 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Vmn2r104
|
APN |
17 |
20,038,239 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL01098:Vmn2r104
|
APN |
17 |
20,048,096 (GRCm38) |
missense |
probably benign |
0.27 |
|
IGL01333:Vmn2r104
|
APN |
17 |
20,042,793 (GRCm38) |
missense |
probably benign |
0.17 |
|
IGL01527:Vmn2r104
|
APN |
17 |
20,042,896 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
IGL01773:Vmn2r104
|
APN |
17 |
20,040,668 (GRCm38) |
missense |
probably benign |
0.10 |
|
IGL01939:Vmn2r104
|
APN |
17 |
20,029,925 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02121:Vmn2r104
|
APN |
17 |
20,041,794 (GRCm38) |
nonsense |
probably null |
|
|
IGL02305:Vmn2r104
|
APN |
17 |
20,042,856 (GRCm38) |
missense |
probably benign |
0.09 |
|
IGL02374:Vmn2r104
|
APN |
17 |
20,042,786 (GRCm38) |
missense |
probably benign |
0.34 |
|
IGL03260:Vmn2r104
|
APN |
17 |
20,042,821 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL03366:Vmn2r104
|
APN |
17 |
20,029,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0091:Vmn2r104
|
UTSW |
17 |
20,041,813 (GRCm38) |
missense |
possibly damaging |
0.79 |
|
R0125:Vmn2r104
|
UTSW |
17 |
20,029,807 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0257:Vmn2r104
|
UTSW |
17 |
20,029,627 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0381:Vmn2r104
|
UTSW |
17 |
20,048,002 (GRCm38) |
nonsense |
probably null |
|
|
R0709:Vmn2r104
|
UTSW |
17 |
20,042,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0786:Vmn2r104
|
UTSW |
17 |
20,042,725 (GRCm38) |
missense |
probably benign |
|
|
R1575:Vmn2r104
|
UTSW |
17 |
20,042,215 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1827:Vmn2r104
|
UTSW |
17 |
20,042,235 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1932:Vmn2r104
|
UTSW |
17 |
20,040,769 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1956:Vmn2r104
|
UTSW |
17 |
20,042,051 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2203:Vmn2r104
|
UTSW |
17 |
20,029,821 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2205:Vmn2r104
|
UTSW |
17 |
20,029,821 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2859:Vmn2r104
|
UTSW |
17 |
20,048,193 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R3701:Vmn2r104
|
UTSW |
17 |
20,029,556 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3834:Vmn2r104
|
UTSW |
17 |
20,029,921 (GRCm38) |
missense |
probably benign |
0.02 |
|
R4151:Vmn2r104
|
UTSW |
17 |
20,029,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4470:Vmn2r104
|
UTSW |
17 |
20,042,241 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4625:Vmn2r104
|
UTSW |
17 |
20,048,181 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4754:Vmn2r104
|
UTSW |
17 |
20,040,768 (GRCm38) |
nonsense |
probably null |
|
|
R4911:Vmn2r104
|
UTSW |
17 |
20,030,026 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5270:Vmn2r104
|
UTSW |
17 |
20,038,266 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5279:Vmn2r104
|
UTSW |
17 |
20,041,884 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5311:Vmn2r104
|
UTSW |
17 |
20,029,901 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5370:Vmn2r104
|
UTSW |
17 |
20,030,188 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5461:Vmn2r104
|
UTSW |
17 |
20,030,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5683:Vmn2r104
|
UTSW |
17 |
20,040,719 (GRCm38) |
nonsense |
probably null |
|
|
R5795:Vmn2r104
|
UTSW |
17 |
20,030,282 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R5795:Vmn2r104
|
UTSW |
17 |
20,030,110 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5983:Vmn2r104
|
UTSW |
17 |
20,041,708 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5992:Vmn2r104
|
UTSW |
17 |
20,029,485 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6066:Vmn2r104
|
UTSW |
17 |
20,038,311 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6156:Vmn2r104
|
UTSW |
17 |
20,041,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6182:Vmn2r104
|
UTSW |
17 |
20,030,245 (GRCm38) |
missense |
probably benign |
0.16 |
|
R6245:Vmn2r104
|
UTSW |
17 |
20,041,567 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R6333:Vmn2r104
|
UTSW |
17 |
20,029,586 (GRCm38) |
missense |
probably benign |
0.30 |
|
R6573:Vmn2r104
|
UTSW |
17 |
20,042,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7101:Vmn2r104
|
UTSW |
17 |
20,030,096 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R7123:Vmn2r104
|
UTSW |
17 |
20,040,826 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7485:Vmn2r104
|
UTSW |
17 |
20,029,475 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7514:Vmn2r104
|
UTSW |
17 |
20,029,529 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7634:Vmn2r104
|
UTSW |
17 |
20,041,709 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R7958:Vmn2r104
|
UTSW |
17 |
20,042,726 (GRCm38) |
missense |
probably benign |
|
|
R8031:Vmn2r104
|
UTSW |
17 |
20,042,786 (GRCm38) |
missense |
probably benign |
0.34 |
|
R8094:Vmn2r104
|
UTSW |
17 |
20,030,221 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R8191:Vmn2r104
|
UTSW |
17 |
20,030,203 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R8308:Vmn2r104
|
UTSW |
17 |
20,040,778 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R8691:Vmn2r104
|
UTSW |
17 |
20,041,848 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8795:Vmn2r104
|
UTSW |
17 |
20,042,726 (GRCm38) |
missense |
probably benign |
|
|
R8900:Vmn2r104
|
UTSW |
17 |
20,041,662 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8913:Vmn2r104
|
UTSW |
17 |
20,029,706 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9180:Vmn2r104
|
UTSW |
17 |
20,042,825 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9199:Vmn2r104
|
UTSW |
17 |
20,041,835 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9282:Vmn2r104
|
UTSW |
17 |
20,040,836 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9303:Vmn2r104
|
UTSW |
17 |
20,048,177 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9305:Vmn2r104
|
UTSW |
17 |
20,048,177 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9322:Vmn2r104
|
UTSW |
17 |
20,042,825 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9325:Vmn2r104
|
UTSW |
17 |
20,048,171 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9414:Vmn2r104
|
UTSW |
17 |
20,029,988 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9785:Vmn2r104
|
UTSW |
17 |
20,048,147 (GRCm38) |
missense |
probably benign |
|
|
RF007:Vmn2r104
|
UTSW |
17 |
20,048,040 (GRCm38) |
missense |
probably benign |
0.36 |
|
Z1177:Vmn2r104
|
UTSW |
17 |
20,029,789 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCATCAGGTCTTCAACTCAG -3'
(R):5'- TGGCCCTTGGGAGTTATACC -3'
Sequencing Primer
(F):5'- TCAGGTCTTCAACTCAGAGATATTG -3'
(R):5'- CCCTTGGGAGTTATACCATGGC -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation