Incidental Mutation 'R6183:Vmn2r66'
| ID |
487624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r66
|
| Ensembl Gene |
ENSMUSG00000094950 |
| Gene Name |
vomeronasal 2, receptor 66 |
| Synonyms |
F830104D24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6183 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
84643853-84661228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84644766 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 548
(D548G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124773]
|
| AlphaFold |
A0A3B2W842 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124773
AA Change: D548G
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000122645
Gene: ENSMUSG00000094950
AA Change: D548G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
77 |
463 |
5e-31 |
PFAM |
|
Pfam:NCD3G
|
507 |
559 |
6e-21 |
PFAM |
|
Pfam:7tm_3
|
589 |
827 |
3.8e-52 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
A |
5: 8,968,718 (GRCm39) |
D352E |
probably benign |
Het |
| Adgrb3 |
T |
A |
1: 25,133,451 (GRCm39) |
I972L |
probably damaging |
Het |
| Alg3 |
T |
C |
16: 20,429,391 (GRCm39) |
Y33C |
probably benign |
Het |
| Atp1a3 |
C |
T |
7: 24,681,177 (GRCm39) |
G816D |
probably damaging |
Het |
| Ccdc121 |
T |
C |
5: 31,645,320 (GRCm39) |
Y358H |
probably damaging |
Het |
| Ces1g |
C |
T |
8: 94,057,867 (GRCm39) |
V145M |
possibly damaging |
Het |
| Clip1 |
A |
G |
5: 123,780,667 (GRCm39) |
S339P |
probably damaging |
Het |
| Col2a1 |
G |
T |
15: 97,886,671 (GRCm39) |
T378N |
unknown |
Het |
| Dennd4b |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
3: 90,182,875 (GRCm39) |
|
probably benign |
Het |
| Dnah12 |
T |
A |
14: 26,583,726 (GRCm39) |
L3207Q |
probably damaging |
Het |
| Efcab5 |
T |
C |
11: 77,028,084 (GRCm39) |
T416A |
probably benign |
Het |
| Ephb1 |
A |
T |
9: 102,072,524 (GRCm39) |
I85N |
probably damaging |
Het |
| Etnppl |
T |
C |
3: 130,413,966 (GRCm39) |
C22R |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,432,949 (GRCm39) |
T11A |
probably benign |
Het |
| Gm5458 |
C |
A |
14: 19,649,712 (GRCm39) |
V171L |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,948,903 (GRCm39) |
|
probably null |
Het |
| Hnrnpll |
A |
G |
17: 80,357,305 (GRCm39) |
V237A |
possibly damaging |
Het |
| Hps3 |
T |
C |
3: 20,063,032 (GRCm39) |
T712A |
probably benign |
Het |
| Ibsp |
A |
G |
5: 104,453,896 (GRCm39) |
E78G |
possibly damaging |
Het |
| Ighv1-62-2 |
G |
A |
12: 115,410,056 (GRCm39) |
A111V |
probably damaging |
Het |
| Igkv4-63 |
G |
T |
6: 69,355,108 (GRCm39) |
Q58K |
probably damaging |
Het |
| Iqcg |
T |
C |
16: 32,851,293 (GRCm39) |
Y226C |
probably damaging |
Het |
| Khdc1a |
A |
T |
1: 21,420,332 (GRCm39) |
D30V |
possibly damaging |
Het |
| Krtap5-5 |
C |
A |
7: 141,783,524 (GRCm39) |
C42F |
unknown |
Het |
| Lmod3 |
T |
C |
6: 97,229,514 (GRCm39) |
N7D |
probably damaging |
Het |
| Lvrn |
A |
G |
18: 46,983,752 (GRCm39) |
N165S |
probably benign |
Het |
| Ms4a4c |
A |
G |
19: 11,403,593 (GRCm39) |
T192A |
possibly damaging |
Het |
| Ncald |
A |
T |
15: 37,397,476 (GRCm39) |
V68D |
probably damaging |
Het |
| Or4e5 |
T |
A |
14: 52,728,188 (GRCm39) |
T78S |
probably benign |
Het |
| Pcdhgb7 |
A |
T |
18: 37,885,315 (GRCm39) |
I162F |
probably damaging |
Het |
| Prokr1 |
T |
C |
6: 87,565,834 (GRCm39) |
T4A |
possibly damaging |
Het |
| Qrich2 |
T |
A |
11: 116,348,955 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
C |
T |
1: 152,462,321 (GRCm39) |
E60K |
possibly damaging |
Het |
| Rtn1 |
A |
T |
12: 72,455,265 (GRCm39) |
W21R |
probably benign |
Het |
| Scart2 |
A |
G |
7: 139,875,947 (GRCm39) |
T404A |
possibly damaging |
Het |
| Spast |
A |
G |
17: 74,680,353 (GRCm39) |
I438M |
probably damaging |
Het |
| Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
| Tas1r1 |
A |
G |
4: 152,116,998 (GRCm39) |
I212T |
probably damaging |
Het |
| Tbc1d1 |
A |
G |
5: 64,432,768 (GRCm39) |
N439D |
probably damaging |
Het |
| Tjp2 |
C |
T |
19: 24,078,155 (GRCm39) |
A913T |
probably damaging |
Het |
| Tnfrsf26 |
A |
G |
7: 143,165,494 (GRCm39) |
L47P |
probably damaging |
Het |
| Unc13a |
A |
T |
8: 72,097,310 (GRCm39) |
S1195T |
probably damaging |
Het |
| Usp54 |
T |
C |
14: 20,602,313 (GRCm39) |
R1346G |
probably damaging |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,272 (GRCm39) |
M62K |
possibly damaging |
Het |
| Vmn2r125 |
A |
T |
4: 156,702,364 (GRCm39) |
D50V |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,664,192 (GRCm39) |
N470K |
probably damaging |
Het |
| Zc3h7a |
A |
T |
16: 10,965,234 (GRCm39) |
I633N |
possibly damaging |
Het |
|
| Other mutations in Vmn2r66 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Vmn2r66
|
APN |
7 |
84,656,299 (GRCm39) |
missense |
probably benign |
|
|
IGL01562:Vmn2r66
|
APN |
7 |
84,656,495 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01689:Vmn2r66
|
APN |
7 |
84,657,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02237:Vmn2r66
|
APN |
7 |
84,643,908 (GRCm39) |
missense |
probably benign |
|
|
IGL02415:Vmn2r66
|
APN |
7 |
84,656,020 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02439:Vmn2r66
|
APN |
7 |
84,654,455 (GRCm39) |
splice site |
probably benign |
|
|
IGL02545:Vmn2r66
|
APN |
7 |
84,655,798 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02708:Vmn2r66
|
APN |
7 |
84,655,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02794:Vmn2r66
|
APN |
7 |
84,644,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02885:Vmn2r66
|
APN |
7 |
84,644,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02975:Vmn2r66
|
APN |
7 |
84,656,182 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03027:Vmn2r66
|
APN |
7 |
84,644,777 (GRCm39) |
splice site |
probably benign |
|
|
IGL03081:Vmn2r66
|
APN |
7 |
84,657,138 (GRCm39) |
missense |
probably benign |
|
|
PIT4131001:Vmn2r66
|
UTSW |
7 |
84,644,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0098:Vmn2r66
|
UTSW |
7 |
84,654,965 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0504:Vmn2r66
|
UTSW |
7 |
84,656,023 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0557:Vmn2r66
|
UTSW |
7 |
84,643,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0617:Vmn2r66
|
UTSW |
7 |
84,644,484 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0883:Vmn2r66
|
UTSW |
7 |
84,657,070 (GRCm39) |
missense |
probably benign |
|
|
R1159:Vmn2r66
|
UTSW |
7 |
84,644,613 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1168:Vmn2r66
|
UTSW |
7 |
84,656,062 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1172:Vmn2r66
|
UTSW |
7 |
84,654,799 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1175:Vmn2r66
|
UTSW |
7 |
84,654,799 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1538:Vmn2r66
|
UTSW |
7 |
84,644,166 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1658:Vmn2r66
|
UTSW |
7 |
84,656,955 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1937:Vmn2r66
|
UTSW |
7 |
84,644,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1989:Vmn2r66
|
UTSW |
7 |
84,661,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2698:Vmn2r66
|
UTSW |
7 |
84,644,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2890:Vmn2r66
|
UTSW |
7 |
84,661,027 (GRCm39) |
splice site |
probably null |
|
|
R3686:Vmn2r66
|
UTSW |
7 |
84,644,397 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4152:Vmn2r66
|
UTSW |
7 |
84,654,800 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4500:Vmn2r66
|
UTSW |
7 |
84,657,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4618:Vmn2r66
|
UTSW |
7 |
84,644,296 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4656:Vmn2r66
|
UTSW |
7 |
84,661,204 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4668:Vmn2r66
|
UTSW |
7 |
84,643,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4942:Vmn2r66
|
UTSW |
7 |
84,656,980 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Vmn2r66
|
UTSW |
7 |
84,656,017 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5223:Vmn2r66
|
UTSW |
7 |
84,657,093 (GRCm39) |
missense |
probably benign |
|
|
R5377:Vmn2r66
|
UTSW |
7 |
84,656,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5512:Vmn2r66
|
UTSW |
7 |
84,657,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5611:Vmn2r66
|
UTSW |
7 |
84,654,951 (GRCm39) |
nonsense |
probably null |
|
|
R5749:Vmn2r66
|
UTSW |
7 |
84,655,979 (GRCm39) |
nonsense |
probably null |
|
|
R6131:Vmn2r66
|
UTSW |
7 |
84,644,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6509:Vmn2r66
|
UTSW |
7 |
84,656,054 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6930:Vmn2r66
|
UTSW |
7 |
84,661,216 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6992:Vmn2r66
|
UTSW |
7 |
84,654,436 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7015:Vmn2r66
|
UTSW |
7 |
84,644,766 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7302:Vmn2r66
|
UTSW |
7 |
84,654,423 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7516:Vmn2r66
|
UTSW |
7 |
84,661,176 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7763:Vmn2r66
|
UTSW |
7 |
84,654,909 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7814:Vmn2r66
|
UTSW |
7 |
84,656,472 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8077:Vmn2r66
|
UTSW |
7 |
84,656,093 (GRCm39) |
missense |
probably benign |
|
|
R8307:Vmn2r66
|
UTSW |
7 |
84,656,270 (GRCm39) |
missense |
probably benign |
|
|
R8315:Vmn2r66
|
UTSW |
7 |
84,643,932 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8490:Vmn2r66
|
UTSW |
7 |
84,654,794 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8511:Vmn2r66
|
UTSW |
7 |
84,656,026 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8781:Vmn2r66
|
UTSW |
7 |
84,644,355 (GRCm39) |
nonsense |
probably null |
|
|
R8812:Vmn2r66
|
UTSW |
7 |
84,654,893 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9203:Vmn2r66
|
UTSW |
7 |
84,654,950 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9277:Vmn2r66
|
UTSW |
7 |
84,661,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGTTTCAGGAAGACACAGATTAC -3'
(R):5'- CTTCTATTATCATCTGTTGGACTGG -3'
Sequencing Primer
(F):5'- TTTCAGGAAGACACAGATTACAACAG -3'
(R):5'- ATTATCATCTGTTGGACTGGATTGTG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation