Incidental Mutation 'R8847:Vmn2r120'
ID |
674787 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r120
|
Ensembl Gene |
ENSMUSG00000090655 |
Gene Name |
vomeronasal 2, receptor 120 |
Synonyms |
EG224916 |
MMRRC Submission |
068735-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R8847 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
57815783-57852314 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 57816217 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 713
(M713L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129296
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000165781]
|
AlphaFold |
A0A3Q4EG79 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000165781
AA Change: M713L
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000129296 Gene: ENSMUSG00000090655 AA Change: M713L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
80 |
474 |
5.9e-42 |
PFAM |
Pfam:NCD3G
|
517 |
570 |
7.5e-22 |
PFAM |
Pfam:7tm_3
|
598 |
836 |
1.3e-54 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
G |
C |
8: 41,206,746 (GRCm39) |
R4T |
probably benign |
Het |
Alk |
T |
A |
17: 72,256,820 (GRCm39) |
I680F |
probably benign |
Het |
Best3 |
A |
G |
10: 116,824,572 (GRCm39) |
T13A |
possibly damaging |
Het |
Ccdc7b |
A |
G |
8: 129,872,082 (GRCm39) |
D59G |
|
Het |
Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
Cic |
G |
A |
7: 24,970,631 (GRCm39) |
V121M |
probably damaging |
Het |
Clasp1 |
C |
G |
1: 118,506,705 (GRCm39) |
P1280R |
probably damaging |
Het |
Col6a5 |
A |
T |
9: 105,741,472 (GRCm39) |
N2482K |
possibly damaging |
Het |
Crebbp |
A |
G |
16: 3,902,891 (GRCm39) |
M2116T |
probably benign |
Het |
Ddn |
T |
C |
15: 98,704,794 (GRCm39) |
E166G |
possibly damaging |
Het |
Dennd6a |
C |
T |
14: 26,327,086 (GRCm39) |
T249I |
probably benign |
Het |
Diaph1 |
A |
T |
18: 37,987,590 (GRCm39) |
D1055E |
possibly damaging |
Het |
Dnajc13 |
C |
A |
9: 104,057,360 (GRCm39) |
G1547* |
probably null |
Het |
Dvl1 |
C |
T |
4: 155,942,611 (GRCm39) |
R626C |
possibly damaging |
Het |
Fer1l6 |
A |
C |
15: 58,414,012 (GRCm39) |
K13Q |
possibly damaging |
Het |
Fry |
G |
A |
5: 150,309,472 (GRCm39) |
E639K |
|
Het |
Gm6408 |
G |
T |
5: 146,420,602 (GRCm39) |
V161L |
probably benign |
Het |
Gpatch8 |
A |
T |
11: 102,372,010 (GRCm39) |
N509K |
unknown |
Het |
Hycc2 |
G |
T |
1: 58,595,713 (GRCm39) |
P55Q |
probably damaging |
Het |
Ints13 |
T |
C |
6: 146,457,631 (GRCm39) |
T416A |
probably benign |
Het |
Iqcf6 |
A |
T |
9: 106,504,650 (GRCm39) |
M105L |
probably damaging |
Het |
Magi3 |
C |
A |
3: 103,922,334 (GRCm39) |
R1461L |
probably benign |
Het |
Map3k8 |
A |
T |
18: 4,333,889 (GRCm39) |
L401Q |
|
Het |
Miga2 |
G |
T |
2: 30,273,990 (GRCm39) |
R542L |
probably damaging |
Het |
Mphosph9 |
A |
T |
5: 124,454,209 (GRCm39) |
V96E |
possibly damaging |
Het |
Nek5 |
T |
C |
8: 22,613,595 (GRCm39) |
S28G |
probably benign |
Het |
Niban1 |
A |
G |
1: 151,575,929 (GRCm39) |
E351G |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,803,962 (GRCm39) |
|
probably benign |
Het |
Npc1 |
A |
G |
18: 12,323,987 (GRCm39) |
L1275P |
probably damaging |
Het |
Nphp4 |
C |
T |
4: 152,590,863 (GRCm39) |
R287C |
probably damaging |
Het |
Or10ak11 |
T |
C |
4: 118,686,821 (GRCm39) |
D271G |
probably damaging |
Het |
Or13a20 |
G |
C |
7: 140,232,326 (GRCm39) |
A145P |
possibly damaging |
Het |
Or1j13 |
G |
A |
2: 36,369,483 (GRCm39) |
R220* |
probably null |
Het |
Or1p1c |
C |
T |
11: 74,160,443 (GRCm39) |
T76I |
probably damaging |
Het |
Parn |
A |
T |
16: 13,446,270 (GRCm39) |
L343* |
probably null |
Het |
Pax5 |
T |
A |
4: 44,691,865 (GRCm39) |
D127V |
probably benign |
Het |
Peak1 |
C |
A |
9: 56,114,427 (GRCm39) |
D1505Y |
probably damaging |
Het |
Perm1 |
C |
T |
4: 156,302,068 (GRCm39) |
T204I |
probably benign |
Het |
Pid1 |
A |
T |
1: 84,093,694 (GRCm39) |
S65T |
unknown |
Het |
Pkn2 |
A |
G |
3: 142,526,401 (GRCm39) |
V392A |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,878,479 (GRCm39) |
D578G |
probably benign |
Het |
Ppp4r4 |
T |
A |
12: 103,562,747 (GRCm39) |
L572Q |
probably damaging |
Het |
Pum3 |
G |
A |
19: 27,398,713 (GRCm39) |
T279M |
probably damaging |
Het |
Rasa2 |
A |
G |
9: 96,458,402 (GRCm39) |
V266A |
possibly damaging |
Het |
Sirpb1c |
C |
T |
3: 15,886,584 (GRCm39) |
W264* |
probably null |
Het |
Slc35g3 |
A |
T |
11: 69,651,399 (GRCm39) |
Y195* |
probably null |
Het |
Slk |
T |
A |
19: 47,607,632 (GRCm39) |
H289Q |
|
Het |
Spef2 |
T |
C |
15: 9,668,913 (GRCm39) |
S758G |
probably benign |
Het |
Spon2 |
C |
T |
5: 33,371,841 (GRCm39) |
A322T |
probably benign |
Het |
Spred2 |
T |
C |
11: 19,951,064 (GRCm39) |
L87P |
probably benign |
Het |
Stk10 |
A |
G |
11: 32,539,427 (GRCm39) |
D269G |
|
Het |
Tex48 |
T |
A |
4: 63,530,772 (GRCm39) |
|
probably benign |
Het |
Themis2 |
T |
A |
4: 132,513,509 (GRCm39) |
H239L |
probably damaging |
Het |
Tle4 |
T |
A |
19: 14,493,737 (GRCm39) |
R199* |
probably null |
Het |
Tlr11 |
C |
T |
14: 50,600,182 (GRCm39) |
H723Y |
possibly damaging |
Het |
Trdj2 |
T |
A |
14: 54,374,237 (GRCm39) |
S1T |
|
Het |
Vdac1 |
T |
G |
11: 52,267,230 (GRCm39) |
S44A |
|
Het |
Vill |
C |
T |
9: 118,897,514 (GRCm39) |
T647I |
probably damaging |
Het |
Vmn1r61 |
A |
G |
7: 5,613,817 (GRCm39) |
C166R |
probably damaging |
Het |
Vmn2r114 |
T |
A |
17: 23,528,986 (GRCm39) |
N372I |
probably damaging |
Het |
Vmn2r61 |
T |
C |
7: 41,950,010 (GRCm39) |
V810A |
probably damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,590,212 (GRCm39) |
L568Q |
probably damaging |
Het |
Wdr7 |
T |
C |
18: 63,872,293 (GRCm39) |
V409A |
probably damaging |
Het |
Ylpm1 |
C |
A |
12: 85,061,672 (GRCm39) |
N524K |
unknown |
Het |
Zfp958 |
A |
C |
8: 4,678,434 (GRCm39) |
H153P |
probably damaging |
Het |
|
Other mutations in Vmn2r120 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01335:Vmn2r120
|
APN |
17 |
57,832,732 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL01346:Vmn2r120
|
APN |
17 |
57,852,232 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01996:Vmn2r120
|
APN |
17 |
57,832,222 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02503:Vmn2r120
|
APN |
17 |
57,816,385 (GRCm39) |
missense |
probably benign |
0.40 |
IGL02582:Vmn2r120
|
APN |
17 |
57,831,724 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02747:Vmn2r120
|
APN |
17 |
57,831,719 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02896:Vmn2r120
|
APN |
17 |
57,816,008 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03139:Vmn2r120
|
APN |
17 |
57,831,742 (GRCm39) |
missense |
probably benign |
0.39 |
IGL03342:Vmn2r120
|
APN |
17 |
57,816,372 (GRCm39) |
missense |
probably benign |
0.03 |
A4554:Vmn2r120
|
UTSW |
17 |
57,832,715 (GRCm39) |
missense |
probably benign |
0.01 |
R0207:Vmn2r120
|
UTSW |
17 |
57,832,052 (GRCm39) |
missense |
probably benign |
0.17 |
R0472:Vmn2r120
|
UTSW |
17 |
57,831,518 (GRCm39) |
missense |
probably benign |
0.03 |
R0517:Vmn2r120
|
UTSW |
17 |
57,815,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R1109:Vmn2r120
|
UTSW |
17 |
57,832,829 (GRCm39) |
missense |
probably benign |
0.09 |
R1316:Vmn2r120
|
UTSW |
17 |
57,832,939 (GRCm39) |
missense |
probably benign |
0.28 |
R1543:Vmn2r120
|
UTSW |
17 |
57,829,374 (GRCm39) |
missense |
probably benign |
0.09 |
R1795:Vmn2r120
|
UTSW |
17 |
57,832,038 (GRCm39) |
missense |
probably benign |
0.35 |
R1850:Vmn2r120
|
UTSW |
17 |
57,832,826 (GRCm39) |
missense |
probably benign |
0.19 |
R1920:Vmn2r120
|
UTSW |
17 |
57,831,839 (GRCm39) |
missense |
probably benign |
0.01 |
R1921:Vmn2r120
|
UTSW |
17 |
57,831,839 (GRCm39) |
missense |
probably benign |
0.01 |
R1922:Vmn2r120
|
UTSW |
17 |
57,831,839 (GRCm39) |
missense |
probably benign |
0.01 |
R2063:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2064:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2065:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2067:Vmn2r120
|
UTSW |
17 |
57,831,553 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2286:Vmn2r120
|
UTSW |
17 |
57,815,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R2291:Vmn2r120
|
UTSW |
17 |
57,816,479 (GRCm39) |
missense |
probably damaging |
1.00 |
R3416:Vmn2r120
|
UTSW |
17 |
57,816,241 (GRCm39) |
missense |
possibly damaging |
0.89 |
R3874:Vmn2r120
|
UTSW |
17 |
57,831,954 (GRCm39) |
missense |
probably benign |
0.40 |
R4023:Vmn2r120
|
UTSW |
17 |
57,843,718 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4024:Vmn2r120
|
UTSW |
17 |
57,843,718 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4348:Vmn2r120
|
UTSW |
17 |
57,829,466 (GRCm39) |
missense |
possibly damaging |
0.47 |
R4409:Vmn2r120
|
UTSW |
17 |
57,816,477 (GRCm39) |
missense |
probably damaging |
1.00 |
R4610:Vmn2r120
|
UTSW |
17 |
57,816,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R4771:Vmn2r120
|
UTSW |
17 |
57,831,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R4786:Vmn2r120
|
UTSW |
17 |
57,829,048 (GRCm39) |
missense |
probably benign |
0.14 |
R4927:Vmn2r120
|
UTSW |
17 |
57,816,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R5285:Vmn2r120
|
UTSW |
17 |
57,843,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R5566:Vmn2r120
|
UTSW |
17 |
57,852,290 (GRCm39) |
missense |
possibly damaging |
0.95 |
R5578:Vmn2r120
|
UTSW |
17 |
57,829,514 (GRCm39) |
missense |
probably benign |
0.01 |
R5643:Vmn2r120
|
UTSW |
17 |
57,831,977 (GRCm39) |
missense |
probably benign |
0.01 |
R5644:Vmn2r120
|
UTSW |
17 |
57,831,977 (GRCm39) |
missense |
probably benign |
0.01 |
R5781:Vmn2r120
|
UTSW |
17 |
57,831,938 (GRCm39) |
missense |
probably benign |
0.00 |
R6084:Vmn2r120
|
UTSW |
17 |
57,832,721 (GRCm39) |
missense |
probably benign |
0.15 |
R6120:Vmn2r120
|
UTSW |
17 |
57,832,973 (GRCm39) |
missense |
probably benign |
0.02 |
R6160:Vmn2r120
|
UTSW |
17 |
57,816,418 (GRCm39) |
missense |
probably benign |
0.03 |
R6248:Vmn2r120
|
UTSW |
17 |
57,852,287 (GRCm39) |
missense |
probably benign |
0.03 |
R6256:Vmn2r120
|
UTSW |
17 |
57,831,700 (GRCm39) |
nonsense |
probably null |
|
R6730:Vmn2r120
|
UTSW |
17 |
57,832,012 (GRCm39) |
missense |
probably benign |
0.03 |
R6821:Vmn2r120
|
UTSW |
17 |
57,843,659 (GRCm39) |
missense |
probably benign |
0.00 |
R6868:Vmn2r120
|
UTSW |
17 |
57,852,218 (GRCm39) |
missense |
probably benign |
0.00 |
R6880:Vmn2r120
|
UTSW |
17 |
57,816,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Vmn2r120
|
UTSW |
17 |
57,816,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R7276:Vmn2r120
|
UTSW |
17 |
57,831,881 (GRCm39) |
missense |
probably benign |
0.11 |
R7373:Vmn2r120
|
UTSW |
17 |
57,816,406 (GRCm39) |
missense |
probably benign |
0.35 |
R7653:Vmn2r120
|
UTSW |
17 |
57,816,258 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7667:Vmn2r120
|
UTSW |
17 |
57,843,657 (GRCm39) |
missense |
probably benign |
0.04 |
R7775:Vmn2r120
|
UTSW |
17 |
57,832,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R7778:Vmn2r120
|
UTSW |
17 |
57,832,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R7797:Vmn2r120
|
UTSW |
17 |
57,815,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R7824:Vmn2r120
|
UTSW |
17 |
57,832,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R7902:Vmn2r120
|
UTSW |
17 |
57,816,244 (GRCm39) |
missense |
possibly damaging |
0.87 |
R7922:Vmn2r120
|
UTSW |
17 |
57,831,683 (GRCm39) |
missense |
probably damaging |
0.99 |
R8508:Vmn2r120
|
UTSW |
17 |
57,832,843 (GRCm39) |
missense |
probably benign |
0.03 |
R8882:Vmn2r120
|
UTSW |
17 |
57,852,229 (GRCm39) |
missense |
probably benign |
0.01 |
R9134:Vmn2r120
|
UTSW |
17 |
57,832,093 (GRCm39) |
missense |
probably damaging |
1.00 |
R9161:Vmn2r120
|
UTSW |
17 |
57,831,864 (GRCm39) |
missense |
|
|
R9336:Vmn2r120
|
UTSW |
17 |
57,832,201 (GRCm39) |
missense |
possibly damaging |
0.91 |
RF005:Vmn2r120
|
UTSW |
17 |
57,828,991 (GRCm39) |
missense |
possibly damaging |
0.65 |
Z1177:Vmn2r120
|
UTSW |
17 |
57,816,245 (GRCm39) |
missense |
probably benign |
0.00 |
Z1188:Vmn2r120
|
UTSW |
17 |
57,829,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCAGGAACTTGGCTTCATTG -3'
(R):5'- TCCCAACATGGCAACTTGC -3'
Sequencing Primer
(F):5'- AGGTTCCTGGCCCAAAATG -3'
(R):5'- GCAACTTGCATTCTACAGCAGATG -3'
|
Posted On |
2021-07-15 |