Incidental Mutation 'R6992:Vmn2r66'
| ID |
543906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r66
|
| Ensembl Gene |
ENSMUSG00000094950 |
| Gene Name |
vomeronasal 2, receptor 66 |
| Synonyms |
F830104D24Rik |
| MMRRC Submission |
045098-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R6992 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
84643853-84661228 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 84654436 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 508
(S508P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122645
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000124773]
|
| AlphaFold |
A0A3B2W842 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124773
AA Change: S508P
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000122645
Gene: ENSMUSG00000094950
AA Change: S508P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
C |
T |
4: 103,099,990 (GRCm39) |
S171N |
possibly damaging |
Het |
| 6030468B19Rik |
T |
G |
11: 117,688,594 (GRCm39) |
M1R |
probably null |
Het |
| A730049H05Rik |
T |
C |
6: 92,804,975 (GRCm39) |
|
probably benign |
Het |
| AC125199.3 |
G |
T |
16: 88,608,915 (GRCm39) |
H52Q |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 44,105,642 (GRCm39) |
M1K |
probably null |
Het |
| Adgrf5 |
T |
C |
17: 43,763,214 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
T |
C |
5: 98,108,564 (GRCm39) |
T316A |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,861,542 (GRCm39) |
V714D |
probably damaging |
Het |
| Cd96 |
A |
G |
16: 45,870,087 (GRCm39) |
S461P |
possibly damaging |
Het |
| Cdc16 |
C |
A |
8: 13,809,188 (GRCm39) |
A51E |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,091,339 (GRCm39) |
D1243E |
probably benign |
Het |
| Cntf |
A |
T |
19: 12,742,697 (GRCm39) |
I21N |
probably damaging |
Het |
| Col11a2 |
C |
T |
17: 34,266,118 (GRCm39) |
A282V |
probably benign |
Het |
| Col14a1 |
T |
A |
15: 55,274,958 (GRCm39) |
|
probably null |
Het |
| Cyp2b9 |
T |
C |
7: 25,900,564 (GRCm39) |
Y401H |
probably benign |
Het |
| Dlgap4 |
A |
G |
2: 156,590,860 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
T |
C |
6: 113,547,979 (GRCm39) |
|
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,839,608 (GRCm39) |
F474I |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,858,599 (GRCm39) |
V1622A |
possibly damaging |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| Gstm4 |
A |
G |
3: 107,951,981 (GRCm39) |
M3T |
possibly damaging |
Het |
| Hdac10 |
T |
C |
15: 89,009,534 (GRCm39) |
D466G |
probably benign |
Het |
| Hook2 |
A |
G |
8: 85,729,185 (GRCm39) |
E625G |
probably damaging |
Het |
| Hspbp1 |
G |
C |
7: 4,667,714 (GRCm39) |
P260A |
probably benign |
Het |
| Igdcc3 |
C |
A |
9: 65,088,853 (GRCm39) |
Q411K |
probably damaging |
Het |
| Il18rap |
G |
A |
1: 40,581,195 (GRCm39) |
E356K |
probably benign |
Het |
| Inpp4a |
A |
T |
1: 37,428,772 (GRCm39) |
M699L |
probably damaging |
Het |
| Klhdc1 |
A |
G |
12: 69,300,531 (GRCm39) |
H157R |
probably damaging |
Het |
| Klhl6 |
G |
T |
16: 19,772,337 (GRCm39) |
T336N |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,059,428 (GRCm39) |
|
probably null |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Mlh3 |
T |
A |
12: 85,282,494 (GRCm39) |
N1412Y |
probably damaging |
Het |
| Mrps27 |
A |
G |
13: 99,541,522 (GRCm39) |
M209V |
probably benign |
Het |
| Mtor |
A |
T |
4: 148,548,932 (GRCm39) |
T572S |
probably benign |
Het |
| Neurog1 |
T |
C |
13: 56,399,363 (GRCm39) |
K128R |
probably damaging |
Het |
| Or10g6 |
T |
A |
9: 39,933,896 (GRCm39) |
L69* |
probably null |
Het |
| Or2b4 |
T |
A |
17: 38,116,754 (GRCm39) |
N239K |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,562,811 (GRCm39) |
I48V |
possibly damaging |
Het |
| Pcdhgb1 |
A |
G |
18: 37,814,652 (GRCm39) |
K381R |
probably benign |
Het |
| Pdzd2 |
T |
C |
15: 12,457,945 (GRCm39) |
D306G |
probably damaging |
Het |
| Plekha5 |
C |
T |
6: 140,489,634 (GRCm39) |
T237I |
probably damaging |
Het |
| Plscr1l1 |
T |
C |
9: 92,236,725 (GRCm39) |
M128T |
probably benign |
Het |
| Pole |
A |
T |
5: 110,480,365 (GRCm39) |
I103F |
probably damaging |
Het |
| Ppfia2 |
A |
T |
10: 106,310,715 (GRCm39) |
Q74L |
possibly damaging |
Het |
| Ppm1d |
T |
C |
11: 85,223,178 (GRCm39) |
F261S |
probably damaging |
Het |
| Psg21 |
A |
T |
7: 18,388,668 (GRCm39) |
|
probably null |
Het |
| Ptprg |
T |
A |
14: 11,962,602 (GRCm38) |
F133L |
probably damaging |
Het |
| Rom1 |
G |
A |
19: 8,906,569 (GRCm39) |
|
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,412,489 (GRCm39) |
F762L |
probably damaging |
Het |
| Sec23ip |
T |
C |
7: 128,367,164 (GRCm39) |
S600P |
probably benign |
Het |
| Sema4b |
T |
A |
7: 79,869,900 (GRCm39) |
I396N |
probably damaging |
Het |
| Serpina3k |
T |
A |
12: 104,307,366 (GRCm39) |
D199E |
probably benign |
Het |
| Slc19a1 |
A |
G |
10: 76,885,540 (GRCm39) |
D480G |
possibly damaging |
Het |
| Slc8b1 |
G |
A |
5: 120,665,880 (GRCm39) |
V404M |
probably damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,765,330 (GRCm39) |
D304G |
probably benign |
Het |
| Smpdl3b |
G |
T |
4: 132,472,452 (GRCm39) |
A107D |
possibly damaging |
Het |
| Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
| Tmem245 |
A |
G |
4: 56,937,940 (GRCm39) |
F203L |
probably benign |
Het |
| Tnip1 |
T |
A |
11: 54,809,542 (GRCm39) |
I442F |
probably benign |
Het |
| Txnip |
A |
G |
3: 96,466,439 (GRCm39) |
K127R |
possibly damaging |
Het |
| Usp32 |
A |
C |
11: 84,922,914 (GRCm39) |
L172R |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,952 (GRCm39) |
Y550N |
probably damaging |
Het |
| Wdr81 |
G |
A |
11: 75,342,612 (GRCm39) |
A885V |
probably benign |
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 |
|
R6183:Vmn2r66
|
UTSW |
7 |
84,644,766 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
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 |
|
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'- TTCCTGGGATCTAGAATAATGAGAC -3'
(R):5'- GATTTGCCATGGAATAAATACCTGG -3'
Sequencing Primer
(F):5'- TCCACAAGGACTTTTGTTAACTATG -3'
(R):5'- GCCATGGAATAAATACCTGGAATTTC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation