Incidental Mutation 'PIT4280001:Vmn2r124'
| ID |
554437 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r124
|
| Ensembl Gene |
ENSMUSG00000094396 |
| Gene Name |
vomeronasal 2, receptor 124 |
| Synonyms |
Vmn2r-ps113, Gm7196 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.270)
|
| Stock # |
PIT4280001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
18269746-18294482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18283487 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 394
(N394D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000176802]
[ENSMUST00000231546]
|
| AlphaFold |
K7N789 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176802
AA Change: N394D
PolyPhen 2
Score 0.217 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000135613
Gene: ENSMUSG00000094396
AA Change: N394D
| 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
|
| Coding Region Coverage |
- 1x: 93.1%
- 3x: 90.9%
- 10x: 85.5%
- 20x: 73.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
A |
G |
11: 83,331,660 (GRCm39) |
D161G |
probably damaging |
Het |
| Acer2 |
C |
T |
4: 86,805,320 (GRCm39) |
L95F |
probably damaging |
Het |
| Adam15 |
C |
T |
3: 89,251,285 (GRCm39) |
|
probably null |
Het |
| Aoc1l3 |
A |
T |
6: 48,964,054 (GRCm39) |
M21L |
probably benign |
Het |
| Bmi1 |
T |
A |
2: 18,687,820 (GRCm39) |
Y98* |
probably null |
Het |
| Cdon |
T |
C |
9: 35,398,231 (GRCm39) |
C983R |
probably damaging |
Het |
| Cfap91 |
C |
T |
16: 38,153,135 (GRCm39) |
V160I |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,585,387 (GRCm39) |
R1297G |
probably damaging |
Het |
| Cpd |
A |
T |
11: 76,681,850 (GRCm39) |
M1132K |
probably benign |
Het |
| Dnah17 |
T |
A |
11: 117,989,408 (GRCm39) |
R1267W |
possibly damaging |
Het |
| Dnah9 |
G |
A |
11: 65,895,839 (GRCm39) |
A2512V |
probably benign |
Het |
| Eri3 |
G |
A |
4: 117,439,831 (GRCm39) |
G175D |
probably damaging |
Het |
| Fbxo9 |
C |
A |
9: 77,994,793 (GRCm39) |
W244L |
probably damaging |
Het |
| Fgfr3 |
A |
T |
5: 33,889,576 (GRCm39) |
H343L |
probably benign |
Het |
| Fmnl2 |
G |
A |
2: 53,008,208 (GRCm39) |
A803T |
unknown |
Het |
| Fmnl3 |
A |
G |
15: 99,219,134 (GRCm39) |
|
probably null |
Het |
| Fth1 |
C |
A |
19: 9,961,973 (GRCm39) |
A104E |
probably damaging |
Het |
| Gcm1 |
T |
C |
9: 77,966,915 (GRCm39) |
Y45H |
probably damaging |
Het |
| Gm5157 |
C |
G |
7: 20,919,007 (GRCm39) |
G179R |
probably damaging |
Het |
| Gpr179 |
A |
G |
11: 97,234,941 (GRCm39) |
I463T |
probably damaging |
Het |
| Gpr35 |
T |
C |
1: 92,910,356 (GRCm39) |
Y23H |
probably damaging |
Het |
| Inpp4b |
C |
T |
8: 82,761,046 (GRCm39) |
H647Y |
probably benign |
Het |
| Kif6 |
A |
T |
17: 50,062,148 (GRCm39) |
K436M |
probably benign |
Het |
| Lacc1 |
T |
A |
14: 77,272,517 (GRCm39) |
Q93L |
probably damaging |
Het |
| Lamc1 |
T |
C |
1: 153,119,217 (GRCm39) |
R801G |
probably damaging |
Het |
| Lrp2bp |
T |
G |
8: 46,476,048 (GRCm39) |
V263G |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,961,668 (GRCm39) |
K453N |
probably damaging |
Het |
| Mfsd6 |
T |
A |
1: 52,700,039 (GRCm39) |
Y703F |
probably benign |
Het |
| Mms22l |
A |
G |
4: 24,581,149 (GRCm39) |
T820A |
probably benign |
Het |
| Ndufa12 |
T |
C |
10: 94,034,994 (GRCm39) |
|
probably null |
Het |
| Nlrp12 |
A |
T |
7: 3,290,063 (GRCm39) |
C150S |
possibly damaging |
Het |
| Noc4l |
G |
A |
5: 110,799,305 (GRCm39) |
T159I |
probably benign |
Het |
| Olfml2b |
T |
A |
1: 170,475,305 (GRCm39) |
C77S |
probably damaging |
Het |
| Or4c12 |
A |
T |
2: 89,774,087 (GRCm39) |
I124N |
probably damaging |
Het |
| Or9a4 |
C |
A |
6: 40,548,650 (GRCm39) |
T110K |
probably damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,399,374 (GRCm39) |
V784A |
probably damaging |
Het |
| Pip5kl1 |
A |
T |
2: 32,473,470 (GRCm39) |
Y369F |
probably benign |
Het |
| Pkdrej |
A |
T |
15: 85,704,136 (GRCm39) |
I600N |
probably benign |
Het |
| Psg19 |
T |
C |
7: 18,530,831 (GRCm39) |
I108V |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,045,327 (GRCm39) |
V539M |
probably damaging |
Het |
| Resf1 |
T |
G |
6: 149,227,023 (GRCm39) |
I23S |
probably benign |
Het |
| Rsbn1l |
T |
A |
5: 21,124,653 (GRCm39) |
H383L |
probably damaging |
Het |
| Scamp2 |
A |
T |
9: 57,488,076 (GRCm39) |
N118I |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,546,074 (GRCm39) |
V879A |
probably damaging |
Het |
| Scn8a |
G |
A |
15: 100,855,370 (GRCm39) |
E172K |
probably damaging |
Het |
| Slc16a6 |
C |
T |
11: 109,349,419 (GRCm39) |
C214Y |
possibly damaging |
Het |
| Stag1 |
A |
G |
9: 100,824,769 (GRCm39) |
T922A |
possibly damaging |
Het |
| Tarbp1 |
T |
C |
8: 127,157,586 (GRCm39) |
H1307R |
probably damaging |
Het |
| Tut1 |
T |
G |
19: 8,936,626 (GRCm39) |
V150G |
probably benign |
Het |
| Ubr2 |
G |
A |
17: 47,255,789 (GRCm39) |
R1371W |
probably damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,553,409 (GRCm39) |
T616A |
probably damaging |
Het |
| Zp3 |
G |
A |
5: 136,013,318 (GRCm39) |
V217M |
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 |
|
|
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 |
|
R3845:Vmn2r124
|
UTSW |
17 |
18,293,953 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
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'- TAGACTCATTCCATGGAAGCC -3'
(R):5'- CTGTGATTGTGGACAAGATAACTG -3'
Sequencing Primer
(F):5'- CCATGGAAGCCTAATTTTTAAACAC -3'
(R):5'- CCTTCGCCATTTAAATACGG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation