Incidental Mutation 'R1311:Or14c41'
| ID |
157932 |
| 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 |
039377-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R1311 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
86234485-86235414 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86235161 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 226
(V226D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150377
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078447]
[ENSMUST00000172965]
[ENSMUST00000215365]
|
| AlphaFold |
Q7TS08 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078447
AA Change: V226D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077542
Gene: ENSMUSG00000059319
AA Change: V226D
| 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 damaging
Transcript: ENSMUST00000172965
AA Change: V226D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000134371
Gene: ENSMUSG00000057067
AA Change: V226D
| 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 damaging
Transcript: ENSMUST00000215365
AA Change: V226D
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.1%
- 20x: 86.2%
|
| Validation Efficiency |
98% (42/43) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1c |
T |
C |
2: 58,170,261 (GRCm39) |
Q449R |
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,759,007 (GRCm39) |
Y195H |
possibly damaging |
Het |
| Casp8ap2 |
T |
A |
4: 32,648,111 (GRCm39) |
N1939K |
probably damaging |
Het |
| Cd209c |
T |
A |
8: 3,995,908 (GRCm39) |
M1L |
probably benign |
Het |
| Ckb |
TCCACCACCA |
TCCACCA |
12: 111,636,079 (GRCm39) |
|
probably benign |
Het |
| Col13a1 |
A |
G |
10: 61,699,789 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,817,286 (GRCm39) |
V1640A |
probably benign |
Het |
| Eml6 |
T |
C |
11: 29,781,088 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,932,706 (GRCm39) |
T1409I |
probably damaging |
Het |
| Gm4884 |
G |
C |
7: 40,692,539 (GRCm39) |
E169D |
possibly damaging |
Het |
| Gm5709 |
T |
C |
3: 59,526,100 (GRCm39) |
|
noncoding transcript |
Het |
| Htr2b |
C |
A |
1: 86,038,346 (GRCm39) |
A87S |
probably damaging |
Het |
| Kansl2 |
G |
T |
15: 98,426,797 (GRCm39) |
H275N |
possibly damaging |
Het |
| Megf6 |
G |
A |
4: 154,348,239 (GRCm39) |
|
probably null |
Het |
| Mtpn |
A |
G |
6: 35,489,185 (GRCm39) |
I113T |
possibly damaging |
Het |
| Myh6 |
G |
T |
14: 55,183,822 (GRCm39) |
A1704E |
probably damaging |
Het |
| Notum |
C |
T |
11: 120,546,575 (GRCm39) |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Olfml1 |
T |
C |
7: 107,167,103 (GRCm39) |
|
probably null |
Het |
| Ptpn5 |
A |
T |
7: 46,728,980 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,990,854 (GRCm39) |
F985L |
probably benign |
Het |
| Slc7a7 |
A |
T |
14: 54,610,487 (GRCm39) |
Y386* |
probably null |
Het |
| Snph |
G |
T |
2: 151,439,122 (GRCm39) |
P36Q |
probably damaging |
Het |
| St18 |
T |
C |
1: 6,915,868 (GRCm39) |
C838R |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Supt7l |
T |
C |
5: 31,677,605 (GRCm39) |
Y187C |
probably damaging |
Het |
| Sycp2l |
A |
T |
13: 41,288,661 (GRCm39) |
K241* |
probably null |
Het |
| Tenm2 |
G |
T |
11: 35,959,421 (GRCm39) |
|
probably benign |
Het |
| Tfap4 |
A |
G |
16: 4,377,290 (GRCm39) |
|
probably null |
Het |
| Tmem132e |
T |
C |
11: 82,335,122 (GRCm39) |
Y643H |
probably damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,758 (GRCm39) |
S114C |
probably damaging |
Het |
| Ush2a |
T |
C |
1: 188,679,342 (GRCm39) |
I4850T |
possibly damaging |
Het |
| Zmym6 |
G |
T |
4: 127,017,151 (GRCm39) |
L977F |
probably 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 |
|
R1777:Or14c41
|
UTSW |
7 |
86,235,272 (GRCm39) |
missense |
probably benign |
|
|
R2259:Or14c41
|
UTSW |
7 |
86,235,092 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2379:Or14c41
|
UTSW |
7 |
86,235,400 (GRCm39) |
missense |
probably benign |
|
|
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'- GCCCAATGCTTGTATCAACTCTCTCACT -3'
(R):5'- ACAGCCTTCTTTATCTGTTTGTTTCTAAGACT -3'
Sequencing Primer
(F):5'- ATCACAGGAGCATTTCTTTGGC -3'
(R):5'- CTCAACTATTTCTGAGATTGCTGAAG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation