Incidental Mutation 'PIT4468001:Vmn2r83'
ID |
555650 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r83
|
Ensembl Gene |
ENSMUSG00000091381 |
Gene Name |
vomeronasal 2, receptor 83 |
Synonyms |
EG625029 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.141)
|
Stock # |
PIT4468001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
79304792-79327988 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 79313884 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 164
(L164R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131426
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000167976]
|
AlphaFold |
E9Q0G7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167976
AA Change: L164R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131426 Gene: ENSMUSG00000091381 AA Change: L164R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
79 |
473 |
1.5e-33 |
PFAM |
Pfam:NCD3G
|
516 |
569 |
6.2e-22 |
PFAM |
Pfam:7tm_3
|
602 |
837 |
8.1e-52 |
PFAM |
|
Coding Region Coverage |
- 1x: 93.0%
- 3x: 90.7%
- 10x: 85.2%
- 20x: 72.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610042L04Rik |
C |
T |
14: 4,348,940 (GRCm38) |
L34F |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,601,701 (GRCm39) |
|
probably null |
Het |
Arhgap15 |
C |
A |
2: 44,133,143 (GRCm39) |
Q350K |
probably damaging |
Het |
Bbs1 |
T |
A |
19: 4,956,190 (GRCm39) |
H35L |
probably benign |
Het |
Cep85 |
T |
C |
4: 133,876,008 (GRCm39) |
N468S |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,455,338 (GRCm39) |
I1050V |
possibly damaging |
Het |
Chd8 |
A |
C |
14: 52,445,453 (GRCm39) |
D1709E |
probably benign |
Het |
Clec9a |
G |
A |
6: 129,396,597 (GRCm39) |
|
probably null |
Het |
Cyp2c70 |
T |
A |
19: 40,153,806 (GRCm39) |
D261V |
probably damaging |
Het |
Deup1 |
T |
C |
9: 15,475,301 (GRCm39) |
N420D |
possibly damaging |
Het |
Dpys |
T |
A |
15: 39,720,601 (GRCm39) |
D53V |
probably damaging |
Het |
Edem1 |
A |
G |
6: 108,821,828 (GRCm39) |
E295G |
probably damaging |
Het |
Farp2 |
G |
T |
1: 93,456,499 (GRCm39) |
E61* |
probably null |
Het |
Fat3 |
T |
G |
9: 15,907,647 (GRCm39) |
D2785A |
probably benign |
Het |
Fbxo30 |
T |
A |
10: 11,166,700 (GRCm39) |
M474K |
possibly damaging |
Het |
Gm13090 |
C |
A |
4: 151,175,539 (GRCm39) |
P93Q |
unknown |
Het |
Gm21976 |
A |
T |
13: 98,443,535 (GRCm39) |
R229* |
probably null |
Het |
Gpr108 |
A |
T |
17: 57,554,563 (GRCm39) |
L25Q |
probably null |
Het |
Hdac9 |
C |
A |
12: 34,145,933 (GRCm39) |
V920F |
unknown |
Het |
Ighv13-2 |
T |
C |
12: 114,321,593 (GRCm39) |
S49G |
probably benign |
Het |
Krt6a |
T |
C |
15: 101,602,352 (GRCm39) |
Y111C |
probably damaging |
Het |
Mib1 |
T |
C |
18: 10,798,463 (GRCm39) |
S775P |
possibly damaging |
Het |
Mki67 |
A |
G |
7: 135,300,876 (GRCm39) |
I1386T |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,942,294 (GRCm39) |
E352G |
probably damaging |
Het |
Nfya |
A |
G |
17: 48,702,805 (GRCm39) |
M61T |
unknown |
Het |
Ntn4 |
A |
G |
10: 93,480,587 (GRCm39) |
T104A |
probably damaging |
Het |
Numb |
G |
A |
12: 83,854,921 (GRCm39) |
T135I |
probably damaging |
Het |
Or4b12 |
C |
A |
2: 90,096,564 (GRCm39) |
C70F |
probably benign |
Het |
Or52ab4 |
A |
C |
7: 102,987,807 (GRCm39) |
E182A |
probably damaging |
Het |
Or5m5 |
A |
T |
2: 85,814,792 (GRCm39) |
T203S |
probably benign |
Het |
Parpbp |
A |
C |
10: 87,979,935 (GRCm39) |
L7R |
probably benign |
Het |
Pcdhb8 |
T |
C |
18: 37,489,686 (GRCm39) |
Y455H |
probably damaging |
Het |
Pcdhga10 |
T |
A |
18: 37,880,936 (GRCm39) |
D232E |
probably damaging |
Het |
Pcdhga9 |
T |
A |
18: 37,872,527 (GRCm39) |
C785* |
probably null |
Het |
Pkd1l3 |
A |
G |
8: 110,391,131 (GRCm39) |
Y1913C |
possibly damaging |
Het |
Pld4 |
T |
G |
12: 112,734,256 (GRCm39) |
L374R |
probably damaging |
Het |
Ppp1r13b |
A |
T |
12: 111,805,136 (GRCm39) |
I350N |
probably benign |
Het |
Rc3h2 |
C |
A |
2: 37,289,651 (GRCm39) |
G387V |
probably damaging |
Het |
Rfwd3 |
T |
C |
8: 112,009,352 (GRCm39) |
H408R |
probably benign |
Het |
Rpl3l |
A |
G |
17: 24,954,457 (GRCm39) |
T173A |
probably benign |
Het |
Sdad1 |
T |
C |
5: 92,439,777 (GRCm39) |
D416G |
probably damaging |
Het |
Srp72 |
C |
A |
5: 77,142,053 (GRCm39) |
T430K |
probably benign |
Het |
Steap1 |
C |
A |
5: 5,786,642 (GRCm39) |
G265V |
probably damaging |
Het |
Sulf2 |
A |
T |
2: 165,922,720 (GRCm39) |
I670N |
probably benign |
Het |
Tcf7l2 |
A |
T |
19: 55,730,820 (GRCm39) |
D16V |
probably damaging |
Het |
Tmem100 |
T |
A |
11: 89,926,187 (GRCm39) |
S5T |
probably benign |
Het |
Tnc |
C |
A |
4: 63,882,904 (GRCm39) |
D1906Y |
probably damaging |
Het |
Trak1 |
T |
C |
9: 121,282,398 (GRCm39) |
S436P |
probably benign |
Het |
Ttyh1 |
T |
C |
7: 4,122,771 (GRCm39) |
Y40H |
possibly damaging |
Het |
Ubxn8 |
T |
A |
8: 34,111,569 (GRCm39) |
S275C |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,178,252 (GRCm39) |
Y76C |
probably damaging |
Het |
Upk3b |
C |
T |
5: 136,071,861 (GRCm39) |
T222M |
probably benign |
Het |
Usp42 |
T |
A |
5: 143,700,399 (GRCm39) |
K1208M |
probably damaging |
Het |
Vmn2r25 |
A |
T |
6: 123,816,557 (GRCm39) |
D341E |
probably benign |
Het |
Vwa8 |
G |
T |
14: 79,420,501 (GRCm39) |
R1734L |
probably damaging |
Het |
Zfand2b |
G |
T |
1: 75,146,476 (GRCm39) |
R117L |
probably benign |
Het |
|
Other mutations in Vmn2r83 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00226:Vmn2r83
|
APN |
10 |
79,314,805 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01096:Vmn2r83
|
APN |
10 |
79,313,662 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01542:Vmn2r83
|
APN |
10 |
79,314,846 (GRCm39) |
missense |
probably benign |
0.30 |
IGL01803:Vmn2r83
|
APN |
10 |
79,304,894 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02110:Vmn2r83
|
APN |
10 |
79,327,534 (GRCm39) |
missense |
possibly damaging |
0.82 |
IGL02347:Vmn2r83
|
APN |
10 |
79,316,067 (GRCm39) |
missense |
possibly damaging |
0.75 |
IGL02417:Vmn2r83
|
APN |
10 |
79,314,881 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02544:Vmn2r83
|
APN |
10 |
79,317,293 (GRCm39) |
splice site |
probably benign |
|
IGL02683:Vmn2r83
|
APN |
10 |
79,327,115 (GRCm39) |
missense |
probably benign |
|
IGL02976:Vmn2r83
|
APN |
10 |
79,304,832 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4378001:Vmn2r83
|
UTSW |
10 |
79,304,849 (GRCm39) |
missense |
probably benign |
0.00 |
R0092:Vmn2r83
|
UTSW |
10 |
79,327,798 (GRCm39) |
missense |
probably damaging |
1.00 |
R1391:Vmn2r83
|
UTSW |
10 |
79,314,931 (GRCm39) |
missense |
probably damaging |
0.96 |
R1539:Vmn2r83
|
UTSW |
10 |
79,327,759 (GRCm39) |
missense |
probably damaging |
1.00 |
R1575:Vmn2r83
|
UTSW |
10 |
79,314,956 (GRCm39) |
missense |
probably damaging |
0.98 |
R2033:Vmn2r83
|
UTSW |
10 |
79,327,653 (GRCm39) |
missense |
probably benign |
0.03 |
R3916:Vmn2r83
|
UTSW |
10 |
79,314,744 (GRCm39) |
missense |
probably benign |
0.01 |
R3967:Vmn2r83
|
UTSW |
10 |
79,327,154 (GRCm39) |
missense |
probably benign |
0.00 |
R4840:Vmn2r83
|
UTSW |
10 |
79,313,682 (GRCm39) |
missense |
possibly damaging |
0.73 |
R5063:Vmn2r83
|
UTSW |
10 |
79,314,921 (GRCm39) |
missense |
probably benign |
0.04 |
R5630:Vmn2r83
|
UTSW |
10 |
79,327,785 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5707:Vmn2r83
|
UTSW |
10 |
79,327,183 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5980:Vmn2r83
|
UTSW |
10 |
79,314,626 (GRCm39) |
missense |
probably benign |
0.04 |
R6294:Vmn2r83
|
UTSW |
10 |
79,313,688 (GRCm39) |
missense |
probably damaging |
0.99 |
R6302:Vmn2r83
|
UTSW |
10 |
79,304,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6769:Vmn2r83
|
UTSW |
10 |
79,313,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R6986:Vmn2r83
|
UTSW |
10 |
79,316,093 (GRCm39) |
missense |
probably benign |
|
R7221:Vmn2r83
|
UTSW |
10 |
79,316,001 (GRCm39) |
missense |
probably benign |
0.02 |
R7376:Vmn2r83
|
UTSW |
10 |
79,314,790 (GRCm39) |
missense |
probably benign |
0.00 |
R7431:Vmn2r83
|
UTSW |
10 |
79,327,306 (GRCm39) |
missense |
probably damaging |
0.99 |
R7501:Vmn2r83
|
UTSW |
10 |
79,327,771 (GRCm39) |
missense |
probably damaging |
0.98 |
R7526:Vmn2r83
|
UTSW |
10 |
79,327,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R7663:Vmn2r83
|
UTSW |
10 |
79,314,956 (GRCm39) |
missense |
probably damaging |
0.98 |
R7881:Vmn2r83
|
UTSW |
10 |
79,314,261 (GRCm39) |
missense |
probably benign |
0.01 |
R7939:Vmn2r83
|
UTSW |
10 |
79,314,651 (GRCm39) |
missense |
probably damaging |
1.00 |
R8314:Vmn2r83
|
UTSW |
10 |
79,317,313 (GRCm39) |
missense |
possibly damaging |
0.76 |
R8364:Vmn2r83
|
UTSW |
10 |
79,316,037 (GRCm39) |
missense |
probably benign |
0.12 |
R8802:Vmn2r83
|
UTSW |
10 |
79,314,261 (GRCm39) |
missense |
probably benign |
0.01 |
R8947:Vmn2r83
|
UTSW |
10 |
79,304,873 (GRCm39) |
missense |
probably benign |
0.00 |
R8969:Vmn2r83
|
UTSW |
10 |
79,313,853 (GRCm39) |
missense |
probably benign |
0.15 |
R8983:Vmn2r83
|
UTSW |
10 |
79,327,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R9018:Vmn2r83
|
UTSW |
10 |
79,316,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R9082:Vmn2r83
|
UTSW |
10 |
79,304,894 (GRCm39) |
missense |
probably benign |
0.00 |
R9390:Vmn2r83
|
UTSW |
10 |
79,317,322 (GRCm39) |
nonsense |
probably null |
|
X0026:Vmn2r83
|
UTSW |
10 |
79,314,486 (GRCm39) |
missense |
probably benign |
|
X0026:Vmn2r83
|
UTSW |
10 |
79,304,849 (GRCm39) |
missense |
probably benign |
0.00 |
Z1176:Vmn2r83
|
UTSW |
10 |
79,314,756 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAAACACTTCTCTGGGTCTTG -3'
(R):5'- TGATCATGATCAAAAGGCCCAAAAG -3'
Sequencing Primer
(F):5'- CTGGGTCTTGAGATTTATAATGTGCC -3'
(R):5'- AGTGATAAAGTTGAAACTCTTCTCC -3'
|
Posted On |
2019-06-07 |