Incidental Mutation 'R5804:Or9g4'
| ID |
448389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or9g4
|
| Ensembl Gene |
ENSMUSG00000075211 |
| Gene Name |
olfactory receptor family 9 subfamily G member 4 |
| Synonyms |
MOR213-4, Olfr1006, GA_x6K02T2Q125-47154544-47153606 |
| MMRRC Submission |
043211-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5804 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
85504555-85509085 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85504682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 271
(D271V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099917]
[ENSMUST00000216084]
|
| AlphaFold |
A2ALD2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099917
AA Change: D271V
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000097501
Gene: ENSMUSG00000075211
AA Change: D271V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
39 |
315 |
1.3e-51 |
PFAM |
|
Pfam:7tm_1
|
49 |
298 |
3.6e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099919
AA Change: D271V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097503
Gene: ENSMUSG00000075211
AA Change: D271V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
41 |
290 |
3.7e-30 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
3.3e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216084
AA Change: D271V
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216207
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
A |
T |
16: 8,396,100 (GRCm39) |
R19* |
probably null |
Het |
| Abcb9 |
A |
G |
5: 124,218,118 (GRCm39) |
M406T |
probably benign |
Het |
| Ager |
A |
G |
17: 34,817,157 (GRCm39) |
E32G |
probably damaging |
Het |
| Cdk10 |
T |
A |
8: 123,955,579 (GRCm39) |
|
probably null |
Het |
| Cfap97d1 |
A |
G |
11: 101,881,640 (GRCm39) |
N112S |
probably damaging |
Het |
| Ctsl |
A |
T |
13: 64,514,302 (GRCm39) |
Y259N |
probably damaging |
Het |
| Ctu2 |
T |
C |
8: 123,207,965 (GRCm39) |
|
probably null |
Het |
| Dse |
T |
A |
10: 34,029,375 (GRCm39) |
I572F |
possibly damaging |
Het |
| Flt1 |
A |
T |
5: 147,517,247 (GRCm39) |
|
probably null |
Het |
| Gatm |
T |
A |
2: 122,433,083 (GRCm39) |
Y193F |
probably benign |
Het |
| Gpaa1 |
T |
C |
15: 76,216,826 (GRCm39) |
F170S |
probably damaging |
Het |
| Grm3 |
A |
G |
5: 9,620,155 (GRCm39) |
L363P |
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,138,951 (GRCm39) |
P64S |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 107,026,455 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
C |
10: 14,009,519 (GRCm39) |
K1725N |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,550,098 (GRCm39) |
C2695* |
probably null |
Het |
| Hmgcr |
G |
A |
13: 96,802,695 (GRCm39) |
T68M |
probably damaging |
Het |
| Igsf21 |
A |
T |
4: 139,755,385 (GRCm39) |
D423E |
possibly damaging |
Het |
| Jag1 |
T |
C |
2: 136,930,124 (GRCm39) |
N751S |
probably benign |
Het |
| Klrc2 |
A |
T |
6: 129,637,436 (GRCm39) |
N28K |
possibly damaging |
Het |
| Lrrc8c |
A |
T |
5: 105,727,423 (GRCm39) |
D29V |
possibly damaging |
Het |
| Mtcl1 |
A |
C |
17: 66,650,132 (GRCm39) |
S1329A |
probably benign |
Het |
| Nin |
C |
T |
12: 70,092,375 (GRCm39) |
V645I |
possibly damaging |
Het |
| Or4c127 |
T |
C |
2: 89,833,332 (GRCm39) |
I194T |
possibly damaging |
Het |
| Or51i1 |
T |
C |
7: 103,671,439 (GRCm39) |
I29V |
probably benign |
Het |
| Or8s2 |
T |
A |
15: 98,276,215 (GRCm39) |
M259L |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,027 (GRCm39) |
H426L |
probably benign |
Het |
| Poteg |
A |
G |
8: 27,946,826 (GRCm39) |
D238G |
probably damaging |
Het |
| Psen1 |
T |
C |
12: 83,778,474 (GRCm39) |
F386L |
probably damaging |
Het |
| Rassf9 |
A |
T |
10: 102,380,905 (GRCm39) |
I96F |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,840,077 (GRCm39) |
|
probably null |
Het |
| Slc16a4 |
A |
T |
3: 107,206,280 (GRCm39) |
M117L |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,689,506 (GRCm39) |
N372S |
possibly damaging |
Het |
| Stmn4 |
G |
A |
14: 66,593,748 (GRCm39) |
G47D |
probably benign |
Het |
| Tex26 |
A |
G |
5: 149,386,612 (GRCm39) |
N137S |
possibly damaging |
Het |
| Ttn |
T |
A |
2: 76,747,163 (GRCm39) |
I4629F |
probably benign |
Het |
| Ubash3a |
G |
A |
17: 31,427,206 (GRCm39) |
|
probably null |
Het |
| Ube3d |
T |
C |
9: 86,307,401 (GRCm39) |
I233V |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,297,369 (GRCm39) |
T680S |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,826,640 (GRCm39) |
T2846I |
probably benign |
Het |
| Zbtb22 |
TGGACCCGGGAC |
TGGACCCGGGACCCGGGAC |
17: 34,137,593 (GRCm39) |
|
probably null |
Het |
| Zfp41 |
C |
T |
15: 75,490,557 (GRCm39) |
P170S |
probably damaging |
Het |
|
| Other mutations in Or9g4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01139:Or9g4
|
APN |
2 |
85,504,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01520:Or9g4
|
APN |
2 |
85,504,701 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01939:Or9g4
|
APN |
2 |
85,505,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02060:Or9g4
|
APN |
2 |
85,505,178 (GRCm39) |
missense |
probably benign |
0.34 |
|
IGL02171:Or9g4
|
APN |
2 |
85,505,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03058:Or9g4
|
APN |
2 |
85,505,025 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03210:Or9g4
|
APN |
2 |
85,504,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB002:Or9g4
|
UTSW |
2 |
85,504,907 (GRCm39) |
missense |
|
|
|
BB012:Or9g4
|
UTSW |
2 |
85,504,907 (GRCm39) |
missense |
|
|
|
R0294:Or9g4
|
UTSW |
2 |
85,505,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1304:Or9g4
|
UTSW |
2 |
85,504,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1476:Or9g4
|
UTSW |
2 |
85,505,262 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4757:Or9g4
|
UTSW |
2 |
85,504,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4793:Or9g4
|
UTSW |
2 |
85,504,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6146:Or9g4
|
UTSW |
2 |
85,504,938 (GRCm39) |
nonsense |
probably null |
|
|
R6511:Or9g4
|
UTSW |
2 |
85,505,184 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6896:Or9g4
|
UTSW |
2 |
85,505,277 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7075:Or9g4
|
UTSW |
2 |
85,505,168 (GRCm39) |
missense |
|
|
|
R7344:Or9g4
|
UTSW |
2 |
85,505,275 (GRCm39) |
nonsense |
probably null |
|
|
R7350:Or9g4
|
UTSW |
2 |
85,505,189 (GRCm39) |
missense |
|
|
|
R7925:Or9g4
|
UTSW |
2 |
85,504,907 (GRCm39) |
missense |
|
|
|
R8704:Or9g4
|
UTSW |
2 |
85,504,562 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTTCACCATTCAAAGGGTCAC -3'
(R):5'- ACGGTACTCTCCAGCATTCTTG -3'
Sequencing Primer
(F):5'- ACAAATGGAAAATGGAGTTATTGGG -3'
(R):5'- GCCATCCTCATTTCCTACTTCAAC -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation