Incidental Mutation 'R5046:Or6c75'
| ID |
394383 |
| 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 |
042636-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.256)
|
| Stock # |
R5046 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
129336755-129337723 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129337178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 142
(M142L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151759
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056002]
[ENSMUST00000203966]
[ENSMUST00000215067]
[ENSMUST00000218901]
|
| AlphaFold |
Q8VGJ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056002
AA Change: M134L
PolyPhen 2
Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000052235
Gene: ENSMUSG00000044025
AA Change: M134L
| 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 benign
Transcript: ENSMUST00000203966
AA Change: M134L
PolyPhen 2
Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000145450
Gene: ENSMUSG00000044025
AA Change: M134L
| 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 benign
Transcript: ENSMUST00000215067
AA Change: M134L
PolyPhen 2
Score 0.419 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000218901
AA Change: M142L
PolyPhen 2
Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.3351 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
| Validation Efficiency |
100% (52/52) |
| 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 |
|---|
| Acsm4 |
C |
A |
7: 119,302,597 (GRCm39) |
H241N |
probably damaging |
Het |
| Arhgap32 |
G |
A |
9: 32,168,095 (GRCm39) |
A693T |
probably damaging |
Het |
| B4galnt3 |
G |
T |
6: 120,191,759 (GRCm39) |
A658D |
probably damaging |
Het |
| Car12 |
G |
A |
9: 66,653,895 (GRCm39) |
E84K |
probably benign |
Het |
| Crocc2 |
T |
A |
1: 93,133,624 (GRCm39) |
S969T |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,794,667 (GRCm39) |
V184A |
possibly damaging |
Het |
| Cryzl2 |
T |
C |
1: 157,292,583 (GRCm39) |
C122R |
probably damaging |
Het |
| Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
| Dnah3 |
A |
G |
7: 119,550,803 (GRCm39) |
L3161P |
probably damaging |
Het |
| Dnajc5g |
A |
G |
5: 31,267,036 (GRCm39) |
N104S |
probably benign |
Het |
| Fcgr1 |
T |
G |
3: 96,194,302 (GRCm39) |
K195T |
probably damaging |
Het |
| Gal |
C |
T |
19: 3,461,167 (GRCm39) |
R89H |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,925,316 (GRCm39) |
A577V |
probably benign |
Het |
| Gm5116 |
A |
C |
7: 32,195,379 (GRCm39) |
|
noncoding transcript |
Het |
| Golga3 |
A |
T |
5: 110,340,806 (GRCm39) |
Q540L |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,797,171 (GRCm39) |
E2184G |
probably damaging |
Het |
| Hspa12a |
T |
C |
19: 58,787,977 (GRCm39) |
D615G |
probably damaging |
Het |
| Igkv14-130 |
A |
T |
6: 67,768,465 (GRCm39) |
Y107F |
probably damaging |
Het |
| Ldlr |
T |
A |
9: 21,657,203 (GRCm39) |
|
probably null |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Lrrc37a |
A |
T |
11: 103,389,066 (GRCm39) |
S2120T |
unknown |
Het |
| Mtfmt |
G |
T |
9: 65,346,897 (GRCm39) |
V164F |
probably damaging |
Het |
| Nampt |
T |
C |
12: 32,883,037 (GRCm39) |
V74A |
probably damaging |
Het |
| Ndufc2 |
G |
T |
7: 97,056,871 (GRCm39) |
R120L |
probably damaging |
Het |
| Neo1 |
A |
T |
9: 58,801,194 (GRCm39) |
V1156D |
possibly damaging |
Het |
| Nlrp1b |
G |
A |
11: 71,050,898 (GRCm39) |
P1065S |
possibly damaging |
Het |
| Nop9 |
A |
G |
14: 55,983,397 (GRCm39) |
H56R |
possibly damaging |
Het |
| Or4k41 |
A |
T |
2: 111,279,934 (GRCm39) |
T150S |
probably benign |
Het |
| Pign |
A |
T |
1: 105,449,798 (GRCm39) |
N909K |
possibly damaging |
Het |
| Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
| Racgap1 |
G |
A |
15: 99,526,643 (GRCm39) |
R307W |
probably damaging |
Het |
| Rap1gds1 |
C |
A |
3: 138,661,181 (GRCm39) |
E399* |
probably null |
Het |
| Rwdd4a |
G |
A |
8: 47,995,837 (GRCm39) |
|
probably null |
Het |
| Sanbr |
A |
C |
11: 23,570,354 (GRCm39) |
M182R |
probably benign |
Het |
| Scp2 |
T |
C |
4: 107,928,488 (GRCm39) |
T401A |
probably benign |
Het |
| Sdha |
A |
G |
13: 74,475,452 (GRCm39) |
F526S |
probably damaging |
Het |
| Shroom1 |
T |
A |
11: 53,354,872 (GRCm39) |
L264Q |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,907,590 (GRCm39) |
T1466A |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,801,852 (GRCm39) |
C71Y |
probably damaging |
Het |
| Ugt2b34 |
G |
A |
5: 87,052,246 (GRCm39) |
S250L |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,650,638 (GRCm39) |
D117G |
probably benign |
Het |
| Wdr73 |
A |
T |
7: 80,542,173 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
R9456:Or6c75
|
UTSW |
10 |
129,337,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCTGTCTGCATTCCCAG -3'
(R):5'- AAGGTGACCATGAGTGTTACC -3'
Sequencing Primer
(F):5'- CCAGATTCCTTGTCACTATTGTG -3'
(R):5'- GTGACCATGAGTGTTACCACAGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation