Incidental Mutation 'R2379:Or14c41'
| ID |
248383 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or14c41
|
| Ensembl Gene |
ENSMUSG00000059319 |
| Gene Name |
olfactory receptor family 14 subfamily C member 41 |
| Synonyms |
Olfr295, GA_x6K02T2NHDJ-9539243-9538314, MOR220-1 |
| MMRRC Submission |
040355-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R2379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
86234485-86235414 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 86235400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 306
(F306V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078447]
[ENSMUST00000172965]
[ENSMUST00000215365]
|
| AlphaFold |
Q7TS08 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078447
AA Change: F306V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000077542
Gene: ENSMUSG00000059319
AA Change: F306V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
288 |
6.1e-26 |
PFAM |
|
Pfam:7tm_4
|
137 |
281 |
2.2e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172965
AA Change: F306V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134371
Gene: ENSMUSG00000057067
AA Change: F306V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
305 |
1.2e-46 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
2e-20 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215365
AA Change: F306V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
93% (37/40) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff4 |
T |
C |
11: 53,299,305 (GRCm39) |
|
probably benign |
Het |
| Anpep |
T |
C |
7: 79,490,966 (GRCm39) |
T209A |
probably benign |
Het |
| Asb16 |
A |
G |
11: 102,163,357 (GRCm39) |
T116A |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,696,275 (GRCm39) |
Q1140K |
probably benign |
Het |
| Btc |
A |
T |
5: 91,524,768 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
C |
17: 34,954,717 (GRCm39) |
D860G |
possibly damaging |
Het |
| Cd177 |
G |
A |
7: 24,457,468 (GRCm39) |
T191I |
possibly damaging |
Het |
| Cngb1 |
A |
G |
8: 95,986,758 (GRCm39) |
L378P |
probably damaging |
Het |
| Ddx60 |
T |
C |
8: 62,490,122 (GRCm39) |
F1697S |
probably damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,138 (GRCm39) |
S1446N |
probably damaging |
Het |
| Fn1 |
T |
A |
1: 71,688,443 (GRCm39) |
K154* |
probably null |
Het |
| Gm10801 |
G |
T |
2: 98,494,185 (GRCm39) |
S109I |
probably benign |
Het |
| Ifi204 |
T |
A |
1: 173,583,559 (GRCm39) |
R220* |
probably null |
Het |
| Limk1 |
A |
G |
5: 134,708,335 (GRCm39) |
|
probably benign |
Het |
| Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
| Mms22l |
T |
A |
4: 24,496,929 (GRCm39) |
S8T |
possibly damaging |
Het |
| Mpp7 |
T |
A |
18: 7,403,345 (GRCm39) |
R322* |
probably null |
Het |
| Mycbp2 |
T |
C |
14: 103,412,386 (GRCm39) |
N2529S |
probably benign |
Het |
| Npr3 |
A |
G |
15: 11,883,449 (GRCm39) |
F327L |
probably damaging |
Het |
| Or12j3 |
A |
T |
7: 139,952,748 (GRCm39) |
Y258* |
probably null |
Het |
| Or14c46 |
T |
C |
7: 85,918,857 (GRCm39) |
T47A |
probably damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,052 (GRCm39) |
H107L |
probably benign |
Het |
| Or5p1 |
T |
C |
7: 107,916,499 (GRCm39) |
S133P |
probably benign |
Het |
| Or6c217 |
A |
T |
10: 129,737,781 (GRCm39) |
V266E |
probably damaging |
Het |
| Or7e177 |
T |
C |
9: 20,211,963 (GRCm39) |
S157P |
possibly damaging |
Het |
| Pld2 |
A |
T |
11: 70,445,140 (GRCm39) |
Y580F |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,879,682 (GRCm39) |
D990V |
probably benign |
Het |
| Sik3 |
A |
G |
9: 46,066,707 (GRCm39) |
E162G |
probably damaging |
Het |
| Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,244,238 (GRCm39) |
T266A |
unknown |
Het |
| Tnks1bp1 |
A |
G |
2: 84,894,182 (GRCm39) |
S1370G |
probably benign |
Het |
| Usp28 |
A |
G |
9: 48,914,395 (GRCm39) |
R99G |
probably null |
Het |
| Vmn2r13 |
T |
G |
5: 109,319,644 (GRCm39) |
E445D |
probably benign |
Het |
| Vmn2r27 |
A |
G |
6: 124,201,342 (GRCm39) |
I205T |
possibly damaging |
Het |
|
| Other mutations in Or14c41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Or14c41
|
APN |
7 |
86,234,647 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02248:Or14c41
|
APN |
7 |
86,235,312 (GRCm39) |
nonsense |
probably null |
|
|
IGL02309:Or14c41
|
APN |
7 |
86,234,705 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02866:Or14c41
|
APN |
7 |
86,234,901 (GRCm39) |
nonsense |
probably null |
|
|
IGL03059:Or14c41
|
APN |
7 |
86,234,779 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03134:Or14c41
|
UTSW |
7 |
86,235,220 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1311:Or14c41
|
UTSW |
7 |
86,235,161 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1777:Or14c41
|
UTSW |
7 |
86,235,272 (GRCm39) |
missense |
probably benign |
|
|
R2259:Or14c41
|
UTSW |
7 |
86,235,092 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5944:Or14c41
|
UTSW |
7 |
86,234,486 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6213:Or14c41
|
UTSW |
7 |
86,234,485 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R6241:Or14c41
|
UTSW |
7 |
86,235,245 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8730:Or14c41
|
UTSW |
7 |
86,235,259 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9316:Or14c41
|
UTSW |
7 |
86,235,134 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9461:Or14c41
|
UTSW |
7 |
86,235,247 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGCCTTTTCCACCTGTGTC -3'
(R):5'- TGTGTATATAGGAGCACATGGATGG -3'
Sequencing Primer
(F):5'- ACATTATTGTGGTGTCTGTGTTTC -3'
(R):5'- CACATGGATGGGGGATGAGGTTAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation