Incidental Mutation 'R2879:Or1p1c'
| ID |
260242 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1p1c
|
| Ensembl Gene |
ENSMUSG00000070375 |
| Gene Name |
olfactory receptor family 1 subfamily P member 1C |
| Synonyms |
Olfr406, MOR133-1, Olfr406-ps, GA_x6K02T2P1NL-4415162-4416133 |
| MMRRC Submission |
040467-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R2879 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
74160217-74161188 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 74161049 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 278
(V278D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148929
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000133561]
[ENSMUST00000214303]
[ENSMUST00000217016]
|
| AlphaFold |
Q7TRX0 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127098
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133561
AA Change: V278D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125963
Gene: ENSMUSG00000070375
AA Change: V278D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
310 |
3.5e-56 |
PFAM |
|
Pfam:7tm_1
|
41 |
292 |
3e-27 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214303
AA Change: V278D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217016
AA Change: V278D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Acte1 |
T |
A |
7: 143,447,800 (GRCm39) |
Y214* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,026,353 (GRCm39) |
|
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Ano6 |
T |
A |
15: 95,841,308 (GRCm39) |
C468* |
probably null |
Het |
| Arhgef10l |
G |
T |
4: 140,242,598 (GRCm39) |
H890Q |
probably benign |
Het |
| Ccnj |
T |
A |
19: 40,833,158 (GRCm39) |
L112Q |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,351,114 (GRCm39) |
|
probably null |
Het |
| Chchd4 |
A |
G |
6: 91,442,200 (GRCm39) |
S73P |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,254,924 (GRCm39) |
K139E |
possibly damaging |
Het |
| Cyp2b13 |
T |
G |
7: 25,785,456 (GRCm39) |
|
probably null |
Het |
| Dagla |
T |
C |
19: 10,248,448 (GRCm39) |
I71V |
possibly damaging |
Het |
| Epor |
A |
T |
9: 21,870,936 (GRCm39) |
W315R |
probably damaging |
Het |
| Etv1 |
T |
A |
12: 38,833,809 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,202,314 (GRCm39) |
C1280S |
probably damaging |
Het |
| Fbxo2 |
G |
C |
4: 148,250,468 (GRCm39) |
R269P |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,894,120 (GRCm39) |
L61Q |
probably damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,723,797 (GRCm39) |
|
probably null |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Ibsp |
G |
A |
5: 104,458,260 (GRCm39) |
E266K |
possibly damaging |
Het |
| Lamb3 |
T |
A |
1: 193,013,092 (GRCm39) |
M439K |
possibly damaging |
Het |
| Lnx1 |
C |
T |
5: 74,780,784 (GRCm39) |
V246M |
probably benign |
Het |
| Lrrc32 |
A |
G |
7: 98,148,984 (GRCm39) |
Q588R |
probably benign |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Med13 |
C |
T |
11: 86,189,988 (GRCm39) |
A974T |
possibly damaging |
Het |
| Mogat2 |
A |
T |
7: 98,871,573 (GRCm39) |
I246N |
possibly damaging |
Het |
| Myl2 |
T |
C |
5: 122,242,748 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,225,029 (GRCm39) |
Y145H |
probably benign |
Het |
| Plg |
A |
G |
17: 12,622,987 (GRCm39) |
E509G |
possibly damaging |
Het |
| Pnkp |
T |
A |
7: 44,508,102 (GRCm39) |
S142T |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,048,936 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
A |
G |
5: 124,526,635 (GRCm39) |
M960T |
probably damaging |
Het |
| Smad1 |
T |
C |
8: 80,080,084 (GRCm39) |
|
probably null |
Het |
| Ssc5d |
G |
A |
7: 4,939,906 (GRCm39) |
|
probably null |
Het |
| Tfcp2 |
C |
T |
15: 100,449,201 (GRCm39) |
|
probably null |
Het |
| Tmem121 |
A |
G |
12: 113,152,028 (GRCm39) |
Y82C |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,880,788 (GRCm39) |
I161V |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,010,783 (GRCm39) |
F523L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,601,849 (GRCm39) |
|
silent |
Het |
| Ttpal |
A |
G |
2: 163,457,503 (GRCm39) |
|
probably null |
Het |
| Vdr |
T |
A |
15: 97,757,008 (GRCm39) |
Y288F |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,783,480 (GRCm39) |
A302V |
probably benign |
Het |
| Zfp346 |
T |
G |
13: 55,253,163 (GRCm39) |
C3G |
possibly damaging |
Het |
|
| Other mutations in Or1p1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01370:Or1p1c
|
APN |
11 |
74,160,325 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01480:Or1p1c
|
APN |
11 |
74,160,427 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02138:Or1p1c
|
APN |
11 |
74,160,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02986:Or1p1c
|
APN |
11 |
74,160,928 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0018:Or1p1c
|
UTSW |
11 |
74,160,934 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1822:Or1p1c
|
UTSW |
11 |
74,161,066 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1823:Or1p1c
|
UTSW |
11 |
74,161,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1956:Or1p1c
|
UTSW |
11 |
74,160,670 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2017:Or1p1c
|
UTSW |
11 |
74,161,159 (GRCm39) |
missense |
probably benign |
|
|
R3854:Or1p1c
|
UTSW |
11 |
74,161,105 (GRCm39) |
nonsense |
probably null |
|
|
R4750:Or1p1c
|
UTSW |
11 |
74,160,246 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6076:Or1p1c
|
UTSW |
11 |
74,161,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Or1p1c
|
UTSW |
11 |
74,160,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6431:Or1p1c
|
UTSW |
11 |
74,160,235 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7032:Or1p1c
|
UTSW |
11 |
74,160,428 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7216:Or1p1c
|
UTSW |
11 |
74,160,550 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7429:Or1p1c
|
UTSW |
11 |
74,160,579 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8144:Or1p1c
|
UTSW |
11 |
74,160,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8161:Or1p1c
|
UTSW |
11 |
74,160,544 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8847:Or1p1c
|
UTSW |
11 |
74,160,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8872:Or1p1c
|
UTSW |
11 |
74,160,120 (GRCm39) |
splice site |
probably benign |
|
|
R8977:Or1p1c
|
UTSW |
11 |
74,160,304 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9049:Or1p1c
|
UTSW |
11 |
74,161,115 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9336:Or1p1c
|
UTSW |
11 |
74,160,743 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9596:Or1p1c
|
UTSW |
11 |
74,160,289 (GRCm39) |
missense |
probably benign |
|
|
R9771:Or1p1c
|
UTSW |
11 |
74,160,635 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCGCATTGTGTCAGCCATC -3'
(R):5'- ACAAAGCACACATGGGGTTCAG -3'
Sequencing Primer
(F):5'- CATTGTGTCAGCCATCATCAGGG -3'
(R):5'- GGTAGACATTTCTAAAAGATCCTCAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation