Incidental Mutation 'R2030:Or4a72'
| ID |
221094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4a72
|
| Ensembl Gene |
ENSMUSG00000111456 |
| Gene Name |
olfactory receptor family 4 subfamily A member 72 |
| Synonyms |
GA_x6K02T2Q125-51020951-51020028, MOR231-12, Olfr1245 |
| MMRRC Submission |
040037-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.246)
|
| Stock # |
R2030 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89405056-89406117 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 89405558 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 171
(V171I)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000214870]
[ENSMUST00000217402]
|
| AlphaFold |
A0A1L1SQJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099766
AA Change: V171I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: V171I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
6e-49 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
2.8e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099773
AA Change: V171I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000097361
Gene: ENSMUSG00000075083
AA Change: V171I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
3.2e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214870
AA Change: V171I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217402
AA Change: V171I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adtrp |
C |
T |
13: 41,981,735 (GRCm39) |
V13I |
probably damaging |
Het |
| Ak2 |
A |
G |
4: 128,902,013 (GRCm39) |
K229E |
probably benign |
Het |
| Atp13a4 |
A |
T |
16: 29,241,502 (GRCm39) |
V741D |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,197,697 (GRCm39) |
M896K |
probably benign |
Het |
| Ccser1 |
C |
T |
6: 61,288,547 (GRCm39) |
R237C |
probably benign |
Het |
| Cdk7 |
A |
G |
13: 100,859,182 (GRCm39) |
|
probably benign |
Het |
| CK137956 |
A |
G |
4: 127,845,180 (GRCm39) |
S188P |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dbndd2 |
A |
G |
2: 164,330,563 (GRCm39) |
D72G |
probably damaging |
Het |
| Disp3 |
A |
T |
4: 148,344,423 (GRCm39) |
I493N |
probably damaging |
Het |
| Dnaaf10 |
A |
T |
11: 17,179,832 (GRCm39) |
T278S |
probably benign |
Het |
| Epx |
T |
C |
11: 87,755,650 (GRCm39) |
D678G |
probably damaging |
Het |
| Fbxw5 |
G |
T |
2: 25,394,810 (GRCm39) |
V235L |
probably damaging |
Het |
| Fmo4 |
T |
A |
1: 162,621,741 (GRCm39) |
D490V |
probably damaging |
Het |
| Fuca2 |
A |
G |
10: 13,382,518 (GRCm39) |
Y268C |
probably damaging |
Het |
| Gm4787 |
C |
T |
12: 81,425,544 (GRCm39) |
V205I |
probably damaging |
Het |
| Gpat3 |
G |
A |
5: 101,045,687 (GRCm39) |
R437K |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,834,121 (GRCm39) |
S3109G |
probably damaging |
Het |
| Hr |
G |
A |
14: 70,808,888 (GRCm39) |
R1117H |
probably damaging |
Het |
| Htra4 |
T |
A |
8: 25,523,593 (GRCm39) |
D324V |
probably damaging |
Het |
| Kcnd3 |
A |
G |
3: 105,366,853 (GRCm39) |
Y241C |
probably damaging |
Het |
| Kcp |
G |
A |
6: 29,489,071 (GRCm39) |
L1072F |
probably damaging |
Het |
| Lrrc52 |
T |
C |
1: 167,294,028 (GRCm39) |
N86D |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,188,247 (GRCm39) |
T26A |
probably damaging |
Het |
| Mre11a |
A |
T |
9: 14,707,101 (GRCm39) |
N117Y |
probably damaging |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,076 (GRCm39) |
S279T |
possibly damaging |
Het |
| Myh13 |
T |
G |
11: 67,241,064 (GRCm39) |
S814A |
probably benign |
Het |
| Ncapd2 |
A |
G |
6: 125,153,678 (GRCm39) |
V679A |
possibly damaging |
Het |
| Nipbl |
A |
T |
15: 8,379,771 (GRCm39) |
V1007D |
probably damaging |
Het |
| Nlrp12 |
T |
A |
7: 3,277,049 (GRCm39) |
H960L |
probably damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,769 (GRCm39) |
M263K |
possibly damaging |
Het |
| Or7e169 |
A |
G |
9: 19,757,709 (GRCm39) |
S69P |
probably benign |
Het |
| Pklr |
A |
G |
3: 89,050,545 (GRCm39) |
Y402C |
probably damaging |
Het |
| Prdm2 |
T |
C |
4: 142,859,334 (GRCm39) |
T1319A |
possibly damaging |
Het |
| Rif1 |
T |
A |
2: 51,982,358 (GRCm39) |
V541E |
probably damaging |
Het |
| Ryk |
T |
A |
9: 102,758,855 (GRCm39) |
I248N |
possibly damaging |
Het |
| Shisa2 |
A |
T |
14: 59,867,134 (GRCm39) |
I129F |
probably damaging |
Het |
| Snap25 |
T |
G |
2: 136,611,973 (GRCm39) |
|
probably benign |
Het |
| Snx31 |
G |
A |
15: 36,525,848 (GRCm39) |
P284S |
probably benign |
Het |
| Spata31g1 |
C |
T |
4: 42,974,131 (GRCm39) |
Q1155* |
probably null |
Het |
| Tas2r140 |
A |
G |
6: 40,469,154 (GRCm39) |
K328R |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 133,032,213 (GRCm39) |
T182A |
probably benign |
Het |
| Thumpd2 |
G |
A |
17: 81,372,387 (GRCm39) |
R35C |
probably damaging |
Het |
| Tnxb |
A |
T |
17: 34,937,443 (GRCm39) |
N3811Y |
probably damaging |
Het |
| Tpte |
A |
C |
8: 22,835,901 (GRCm39) |
N428T |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,831,629 (GRCm39) |
D1498G |
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,842,444 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,703,277 (GRCm39) |
|
probably benign |
Het |
| Wdr24 |
A |
G |
17: 26,045,017 (GRCm39) |
I251V |
probably benign |
Het |
| Zc3h6 |
T |
C |
2: 128,848,006 (GRCm39) |
Y278H |
probably damaging |
Het |
| Zfat |
A |
G |
15: 67,990,783 (GRCm39) |
|
probably null |
Het |
| Zfp442 |
A |
T |
2: 150,250,042 (GRCm39) |
V620E |
possibly damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,984 (GRCm39) |
H540R |
probably damaging |
Het |
|
| Other mutations in Or4a72 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01122:Or4a72
|
APN |
2 |
89,405,767 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01690:Or4a72
|
APN |
2 |
89,405,557 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02334:Or4a72
|
APN |
2 |
89,405,668 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02435:Or4a72
|
APN |
2 |
89,405,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02793:Or4a72
|
APN |
2 |
89,405,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02875:Or4a72
|
APN |
2 |
89,405,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03218:Or4a72
|
APN |
2 |
89,405,935 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL03392:Or4a72
|
APN |
2 |
89,405,593 (GRCm39) |
missense |
probably damaging |
0.96 |
|
H8786:Or4a72
|
UTSW |
2 |
89,405,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
I0000:Or4a72
|
UTSW |
2 |
89,405,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0044:Or4a72
|
UTSW |
2 |
89,405,974 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0190:Or4a72
|
UTSW |
2 |
89,405,302 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1585:Or4a72
|
UTSW |
2 |
89,405,746 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1902:Or4a72
|
UTSW |
2 |
89,405,947 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2018:Or4a72
|
UTSW |
2 |
89,405,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2019:Or4a72
|
UTSW |
2 |
89,405,737 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2020:Or4a72
|
UTSW |
2 |
89,405,305 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2021:Or4a72
|
UTSW |
2 |
89,405,305 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2133:Or4a72
|
UTSW |
2 |
89,405,600 (GRCm39) |
nonsense |
probably null |
|
|
R3850:Or4a72
|
UTSW |
2 |
89,405,378 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4066:Or4a72
|
UTSW |
2 |
89,405,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4754:Or4a72
|
UTSW |
2 |
89,405,391 (GRCm39) |
missense |
probably benign |
|
|
R4923:Or4a72
|
UTSW |
2 |
89,406,023 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5303:Or4a72
|
UTSW |
2 |
89,405,345 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5574:Or4a72
|
UTSW |
2 |
89,405,321 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6083:Or4a72
|
UTSW |
2 |
89,406,016 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6188:Or4a72
|
UTSW |
2 |
89,405,538 (GRCm39) |
nonsense |
probably null |
|
|
R6724:Or4a72
|
UTSW |
2 |
89,405,309 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6964:Or4a72
|
UTSW |
2 |
89,405,333 (GRCm39) |
missense |
probably benign |
|
|
R7066:Or4a72
|
UTSW |
2 |
89,406,047 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7401:Or4a72
|
UTSW |
2 |
89,405,449 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8232:Or4a72
|
UTSW |
2 |
89,405,938 (GRCm39) |
missense |
noncoding transcript |
|
|
R8558:Or4a72
|
UTSW |
2 |
89,405,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8708:Or4a72
|
UTSW |
2 |
89,405,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9482:Or4a72
|
UTSW |
2 |
89,405,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTAAACTGGTCGGGCATAC -3'
(R):5'- GTGGCAATGGCTTATGATCGC -3'
Sequencing Primer
(F):5'- CTGGTCGGGCATACATAAAAATAC -3'
(R):5'- CGCTATGTGGCAATCTGTAAGCC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation