Incidental Mutation 'R9456:Or6c75'
| ID |
714590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or6c75
|
| Ensembl Gene |
ENSMUSG00000044025 |
| Gene Name |
olfactory receptor family 6 subfamily C member 75 |
| Synonyms |
MOR112-1, GA_x6K02T2PULF-11179777-11180721, Olfr790 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R9456 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
129336755-129337723 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129337515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 254
(V254A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056002]
[ENSMUST00000203966]
[ENSMUST00000215067]
[ENSMUST00000218901]
|
| AlphaFold |
Q8VGJ3 |
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000052235
Gene: ENSMUSG00000044025
AA Change: V246A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
315 |
5.6e-53 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203966
AA Change: V246A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000145450
Gene: ENSMUSG00000044025
AA Change: V246A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
315 |
5.6e-53 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
1.3e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215067
AA Change: V246A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218901
AA Change: V254A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.4%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
T |
C |
18: 10,645,121 (GRCm39) |
D391G |
probably benign |
Het |
| Arhgdia |
A |
C |
11: 120,470,068 (GRCm39) |
W202G |
probably damaging |
Het |
| Atp2a3 |
A |
T |
11: 72,871,131 (GRCm39) |
D575V |
probably benign |
Het |
| Cep350 |
C |
A |
1: 155,744,457 (GRCm39) |
V2121L |
probably benign |
Het |
| Clcn2 |
CCCGCCGCCGCCGCCGC |
CCCGCCGCCGCCGC |
16: 20,534,702 (GRCm39) |
|
probably benign |
Het |
| Cldn9 |
A |
T |
17: 23,902,556 (GRCm39) |
V23E |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,593,237 (GRCm39) |
S1542F |
probably benign |
Het |
| Cmbl |
A |
G |
15: 31,589,948 (GRCm39) |
D226G |
probably damaging |
Het |
| Dennd4b |
C |
T |
3: 90,178,515 (GRCm39) |
T537I |
probably damaging |
Het |
| Dnah7b |
C |
A |
1: 46,165,953 (GRCm39) |
D539E |
possibly damaging |
Het |
| Fam219a |
T |
C |
4: 41,521,871 (GRCm39) |
T70A |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 38,942,571 (GRCm39) |
V488E |
possibly damaging |
Het |
| Gm3336 |
A |
G |
8: 71,174,740 (GRCm39) |
*96W |
probably null |
Het |
| Hectd1 |
A |
G |
12: 51,832,584 (GRCm39) |
I930T |
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,506,053 (GRCm39) |
C3824* |
probably null |
Het |
| Ift140 |
T |
C |
17: 25,254,758 (GRCm39) |
F413L |
probably benign |
Het |
| Itfg1 |
A |
G |
8: 86,565,566 (GRCm39) |
V90A |
probably benign |
Het |
| Jph4 |
A |
T |
14: 55,351,090 (GRCm39) |
W309R |
probably damaging |
Het |
| Kdm2a |
C |
T |
19: 4,393,141 (GRCm39) |
D405N |
|
Het |
| Klhl5 |
T |
C |
5: 65,305,939 (GRCm39) |
F302S |
probably damaging |
Het |
| Klk1b8 |
T |
C |
7: 43,453,177 (GRCm39) |
M256T |
probably benign |
Het |
| Klre1 |
A |
T |
6: 129,559,368 (GRCm39) |
R99S |
probably benign |
Het |
| Krt79 |
T |
C |
15: 101,839,904 (GRCm39) |
T364A |
probably benign |
Het |
| Lin7a |
C |
T |
10: 107,218,483 (GRCm39) |
P131L |
possibly damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,594,699 (GRCm39) |
Y9H |
probably benign |
Het |
| Lrrc8a |
T |
A |
2: 30,145,663 (GRCm39) |
I159N |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,615,532 (GRCm39) |
S692G |
probably benign |
Het |
| Myo15a |
G |
A |
11: 60,392,668 (GRCm39) |
V1017M |
|
Het |
| Nol4 |
T |
C |
18: 23,172,897 (GRCm39) |
D68G |
probably benign |
Het |
| Or4f53 |
T |
C |
2: 111,088,348 (GRCm39) |
V296A |
probably benign |
Het |
| Pigw |
C |
A |
11: 84,768,040 (GRCm39) |
A430S |
probably benign |
Het |
| Pla2g4c |
T |
C |
7: 13,077,900 (GRCm39) |
L356P |
probably damaging |
Het |
| Prorp |
T |
C |
12: 55,385,015 (GRCm39) |
V410A |
probably damaging |
Het |
| Prr5 |
A |
G |
15: 84,585,682 (GRCm39) |
T226A |
probably benign |
Het |
| Pygo1 |
C |
T |
9: 72,833,056 (GRCm39) |
|
probably benign |
Het |
| Rnf214 |
A |
G |
9: 45,779,286 (GRCm39) |
I333T |
possibly damaging |
Het |
| Septin3 |
A |
G |
15: 82,167,352 (GRCm39) |
I86V |
probably benign |
Het |
| Slc30a3 |
AGGGCTTACCTGAGCGG |
AGG |
5: 31,246,889 (GRCm39) |
|
probably null |
Het |
| Socs5 |
C |
A |
17: 87,442,266 (GRCm39) |
T402K |
probably damaging |
Het |
| Speer3 |
T |
A |
5: 13,846,368 (GRCm39) |
N229K |
|
Het |
| Stk16 |
T |
C |
1: 75,187,804 (GRCm39) |
|
probably benign |
Het |
| Taar7d |
T |
A |
10: 23,903,287 (GRCm39) |
F56L |
probably benign |
Het |
| Tmprss2 |
C |
T |
16: 97,392,669 (GRCm39) |
V93I |
probably benign |
Het |
| Tnpo2 |
G |
A |
8: 85,774,015 (GRCm39) |
E350K |
probably benign |
Het |
| Tor1aip2 |
C |
T |
1: 155,937,525 (GRCm39) |
P87S |
possibly damaging |
Het |
| Trgv7 |
A |
T |
13: 19,362,385 (GRCm39) |
R25* |
probably null |
Het |
| Ush2a |
A |
G |
1: 188,558,589 (GRCm39) |
E3606G |
probably benign |
Het |
| Zeb1 |
C |
T |
18: 5,766,709 (GRCm39) |
Q407* |
probably null |
Het |
| Zfp609 |
A |
G |
9: 65,611,125 (GRCm39) |
S613P |
|
Het |
| Zfp735 |
A |
G |
11: 73,602,403 (GRCm39) |
N449S |
possibly damaging |
Het |
|
| Other mutations in Or6c75 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01132:Or6c75
|
APN |
10 |
129,337,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01575:Or6c75
|
APN |
10 |
129,337,436 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02389:Or6c75
|
APN |
10 |
129,336,939 (GRCm39) |
missense |
probably benign |
|
|
IGL02601:Or6c75
|
APN |
10 |
129,337,723 (GRCm39) |
makesense |
probably null |
|
|
G5030:Or6c75
|
UTSW |
10 |
129,337,406 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0785:Or6c75
|
UTSW |
10 |
129,336,750 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0850:Or6c75
|
UTSW |
10 |
129,337,593 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0899:Or6c75
|
UTSW |
10 |
129,337,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1167:Or6c75
|
UTSW |
10 |
129,337,019 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1515:Or6c75
|
UTSW |
10 |
129,337,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1557:Or6c75
|
UTSW |
10 |
129,337,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Or6c75
|
UTSW |
10 |
129,336,775 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1892:Or6c75
|
UTSW |
10 |
129,336,902 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4296:Or6c75
|
UTSW |
10 |
129,337,339 (GRCm39) |
nonsense |
probably null |
|
|
R4681:Or6c75
|
UTSW |
10 |
129,337,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5046:Or6c75
|
UTSW |
10 |
129,337,178 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5309:Or6c75
|
UTSW |
10 |
129,337,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5312:Or6c75
|
UTSW |
10 |
129,337,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5550:Or6c75
|
UTSW |
10 |
129,337,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5788:Or6c75
|
UTSW |
10 |
129,336,779 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
|
R5788:Or6c75
|
UTSW |
10 |
129,336,763 (GRCm39) |
missense |
probably benign |
|
|
R7457:Or6c75
|
UTSW |
10 |
129,337,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7782:Or6c75
|
UTSW |
10 |
129,337,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7969:Or6c75
|
UTSW |
10 |
129,337,716 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8512:Or6c75
|
UTSW |
10 |
129,337,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8966:Or6c75
|
UTSW |
10 |
129,336,951 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9352:Or6c75
|
UTSW |
10 |
129,337,364 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9436:Or6c75
|
UTSW |
10 |
129,336,969 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGCTTTCTTGCTCAAACAC -3'
(R):5'- GGTCCACTTTCCTTATGATCATGG -3'
Sequencing Primer
(F):5'- AAACACTCACTTTCTCGAGCTCATG -3'
(R):5'- AGAAGATTCTCTGGATCATGTTTTTG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation