Incidental Mutation 'R5149:Or2n1c'
| ID |
395273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or2n1c
|
| Ensembl Gene |
ENSMUSG00000057801 |
| Gene Name |
olfactory receptor family 2 subfamily N member 1C |
| Synonyms |
MOR256-48, GA_x6K02T2PSCP-2656648-2657586, Olfr135 |
| MMRRC Submission |
042732-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R5149 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
38519138-38520076 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 38519208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Alanine
at position 24
(E24A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150535
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076245]
[ENSMUST00000213217]
|
| AlphaFold |
Q8VEY4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076245
AA Change: E24A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075595
Gene: ENSMUSG00000057801
AA Change: E24A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
7.6e-50 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
9.2e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213217
AA Change: E24A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
A |
G |
16: 22,717,673 (GRCm39) |
T245A |
probably benign |
Het |
| Akr1c13 |
G |
T |
13: 4,244,168 (GRCm39) |
V74L |
probably benign |
Het |
| Amt |
G |
A |
9: 108,178,650 (GRCm39) |
V389I |
possibly damaging |
Het |
| Ankrd26 |
T |
C |
6: 118,535,957 (GRCm39) |
N159S |
probably benign |
Het |
| Atp1a4 |
A |
G |
1: 172,059,572 (GRCm39) |
I840T |
probably damaging |
Het |
| Capn1 |
T |
C |
19: 6,040,364 (GRCm39) |
|
probably null |
Het |
| Col27a1 |
T |
C |
4: 63,249,664 (GRCm39) |
|
probably benign |
Het |
| Cyp2j5 |
A |
G |
4: 96,547,744 (GRCm39) |
L166P |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
| Dchs1 |
G |
A |
7: 105,404,865 (GRCm39) |
T2559I |
probably damaging |
Het |
| Dnah12 |
C |
A |
14: 26,572,883 (GRCm39) |
S258* |
probably null |
Het |
| Dpep1 |
A |
T |
8: 123,927,177 (GRCm39) |
T309S |
probably benign |
Het |
| Epha5 |
A |
T |
5: 84,298,217 (GRCm39) |
F559L |
probably damaging |
Het |
| Gm3409 |
T |
C |
5: 146,474,571 (GRCm39) |
I29T |
possibly damaging |
Het |
| Grhl1 |
CAGAAGAAG |
CAGAAG |
12: 24,662,178 (GRCm39) |
|
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,267,209 (GRCm39) |
R941S |
probably damaging |
Het |
| Helb |
C |
T |
10: 119,941,648 (GRCm39) |
E347K |
probably benign |
Het |
| Ighv14-3 |
A |
G |
12: 114,023,710 (GRCm39) |
S36P |
probably damaging |
Het |
| Klrb1c |
T |
A |
6: 128,760,670 (GRCm39) |
M211L |
probably benign |
Het |
| Larp7 |
C |
T |
3: 127,334,460 (GRCm39) |
E510K |
probably damaging |
Het |
| Lrig1 |
C |
T |
6: 94,605,025 (GRCm39) |
R190Q |
possibly damaging |
Het |
| Marchf6 |
A |
G |
15: 31,462,140 (GRCm39) |
S863P |
possibly damaging |
Het |
| Mgst2 |
A |
G |
3: 51,589,958 (GRCm39) |
N132S |
probably benign |
Het |
| Nlgn2 |
C |
T |
11: 69,716,216 (GRCm39) |
R775H |
probably damaging |
Het |
| Or5w15 |
A |
T |
2: 87,567,749 (GRCm39) |
S306R |
probably benign |
Het |
| Or6c6c |
T |
C |
10: 129,541,377 (GRCm39) |
V210A |
probably benign |
Het |
| Papln |
A |
T |
12: 83,818,656 (GRCm39) |
|
probably null |
Het |
| Poteg |
C |
T |
8: 27,971,671 (GRCm39) |
S395L |
possibly damaging |
Het |
| Prox1 |
T |
A |
1: 189,879,250 (GRCm39) |
I643F |
possibly damaging |
Het |
| Septin4 |
A |
G |
11: 87,480,071 (GRCm39) |
E211G |
probably damaging |
Het |
| Serpinb6e |
A |
G |
13: 34,016,468 (GRCm39) |
F422L |
probably damaging |
Het |
| Slc22a19 |
A |
G |
19: 7,688,503 (GRCm39) |
L19P |
probably damaging |
Het |
| Snf8 |
G |
T |
11: 95,934,286 (GRCm39) |
A136S |
probably benign |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Spta1 |
A |
G |
1: 174,075,000 (GRCm39) |
T2409A |
probably damaging |
Het |
| Tat |
A |
G |
8: 110,723,450 (GRCm39) |
S313G |
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,074,855 (GRCm39) |
C1785* |
probably null |
Het |
| Tmem132b |
A |
G |
5: 125,699,989 (GRCm39) |
S176G |
probably damaging |
Het |
| Tnfrsf8 |
T |
C |
4: 145,029,675 (GRCm39) |
R42G |
possibly damaging |
Het |
| Trio |
T |
C |
15: 27,754,115 (GRCm39) |
D2124G |
possibly damaging |
Het |
| Trp53bp1 |
A |
T |
2: 121,046,598 (GRCm39) |
D1067E |
probably benign |
Het |
| Tspan13 |
T |
C |
12: 36,074,065 (GRCm39) |
S24G |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,344,062 (GRCm39) |
S814P |
possibly damaging |
Het |
| Zfp213 |
C |
A |
17: 23,780,373 (GRCm39) |
R49L |
probably damaging |
Het |
|
| Other mutations in Or2n1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00978:Or2n1c
|
APN |
17 |
38,519,873 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01316:Or2n1c
|
APN |
17 |
38,519,388 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01666:Or2n1c
|
APN |
17 |
38,519,780 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02096:Or2n1c
|
APN |
17 |
38,520,074 (GRCm39) |
makesense |
probably null |
|
|
R0255:Or2n1c
|
UTSW |
17 |
38,519,286 (GRCm39) |
missense |
probably benign |
|
|
R0630:Or2n1c
|
UTSW |
17 |
38,519,304 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1185:Or2n1c
|
UTSW |
17 |
38,520,074 (GRCm39) |
makesense |
probably null |
|
|
R1185:Or2n1c
|
UTSW |
17 |
38,520,074 (GRCm39) |
makesense |
probably null |
|
|
R1185:Or2n1c
|
UTSW |
17 |
38,520,074 (GRCm39) |
makesense |
probably null |
|
|
R1279:Or2n1c
|
UTSW |
17 |
38,519,678 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1878:Or2n1c
|
UTSW |
17 |
38,519,265 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1969:Or2n1c
|
UTSW |
17 |
38,519,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2374:Or2n1c
|
UTSW |
17 |
38,519,958 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3708:Or2n1c
|
UTSW |
17 |
38,519,174 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5025:Or2n1c
|
UTSW |
17 |
38,519,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Or2n1c
|
UTSW |
17 |
38,519,208 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5095:Or2n1c
|
UTSW |
17 |
38,519,208 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5103:Or2n1c
|
UTSW |
17 |
38,519,208 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5104:Or2n1c
|
UTSW |
17 |
38,519,208 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5105:Or2n1c
|
UTSW |
17 |
38,519,208 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5150:Or2n1c
|
UTSW |
17 |
38,519,208 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5344:Or2n1c
|
UTSW |
17 |
38,519,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6608:Or2n1c
|
UTSW |
17 |
38,519,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7300:Or2n1c
|
UTSW |
17 |
38,519,588 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R7324:Or2n1c
|
UTSW |
17 |
38,519,607 (GRCm39) |
missense |
probably benign |
|
|
R7580:Or2n1c
|
UTSW |
17 |
38,519,934 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8062:Or2n1c
|
UTSW |
17 |
38,520,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8371:Or2n1c
|
UTSW |
17 |
38,519,189 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8984:Or2n1c
|
UTSW |
17 |
38,519,304 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9002:Or2n1c
|
UTSW |
17 |
38,519,555 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACATTCCAAGTGTAGAATGCC -3'
(R):5'- TGATGGTCTTTGTAGAGCCCC -3'
Sequencing Primer
(F):5'- GTGTAGAATGCCAACCCTGGATTC -3'
(R):5'- TCTTTGTAGAGCCCCAAAGG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation