Incidental Mutation 'R9346:Or1e1c'
| ID |
707810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1e1c
|
| Ensembl Gene |
ENSMUSG00000063881 |
| Gene Name |
olfactory receptor family 1 subfamily E member 1C |
| Synonyms |
GA_x6K02T2P1NL-3535075-3536028, MOR135-12, Olfr376 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9346 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73262072-73266530 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 73266129 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 188
(S188P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077977
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078952]
[ENSMUST00000120401]
[ENSMUST00000170592]
|
| AlphaFold |
E9Q4M1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078952
AA Change: S188P
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000077977
Gene: ENSMUSG00000063881
AA Change: S188P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
314 |
3e-59 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
41 |
311 |
7.4e-8 |
PFAM |
|
Pfam:7tm_1
|
47 |
296 |
2.7e-27 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120401
AA Change: S185P
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113236
Gene: ENSMUSG00000063881
AA Change: S185P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
38 |
308 |
1.1e-7 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
7.2e-36 |
PFAM |
|
Pfam:7tm_4
|
142 |
286 |
1.4e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170592
AA Change: S185P
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000126073
Gene: ENSMUSG00000063881
AA Change: S185P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
38 |
308 |
1.1e-7 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
7.2e-36 |
PFAM |
|
Pfam:7tm_4
|
142 |
286 |
1.4e-46 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (45/45) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
G |
T |
11: 58,179,095 (GRCm39) |
C143F |
|
Het |
| Adam8 |
T |
C |
7: 139,567,634 (GRCm39) |
I370V |
probably benign |
Het |
| Adamts1 |
T |
A |
16: 85,599,420 (GRCm39) |
D60V |
possibly damaging |
Het |
| Adh5 |
G |
A |
3: 138,157,203 (GRCm39) |
V255I |
probably benign |
Het |
| Aipl1 |
C |
T |
11: 71,928,253 (GRCm39) |
G11D |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,185,792 (GRCm39) |
I37T |
probably benign |
Het |
| Arnt2 |
C |
T |
7: 83,931,321 (GRCm39) |
R383Q |
probably benign |
Het |
| Arrb1 |
T |
A |
7: 99,242,207 (GRCm39) |
Y238* |
probably null |
Het |
| Brdt |
T |
C |
5: 107,524,880 (GRCm39) |
I807T |
probably damaging |
Het |
| Cacna1d |
T |
A |
14: 29,818,880 (GRCm39) |
Q1247L |
possibly damaging |
Het |
| Carmil3 |
T |
C |
14: 55,732,141 (GRCm39) |
Y213H |
probably damaging |
Het |
| Ccdc180 |
A |
T |
4: 45,927,953 (GRCm39) |
T1163S |
probably benign |
Het |
| Cfl1 |
T |
A |
19: 5,543,641 (GRCm39) |
L206Q |
probably benign |
Het |
| Chga |
A |
G |
12: 102,525,548 (GRCm39) |
D63G |
probably damaging |
Het |
| Dennd1a |
T |
C |
2: 37,911,447 (GRCm39) |
D180G |
probably benign |
Het |
| Dop1b |
T |
C |
16: 93,577,702 (GRCm39) |
|
probably null |
Het |
| Fam171a2 |
C |
T |
11: 102,328,771 (GRCm39) |
V663M |
possibly damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Gimap9 |
C |
A |
6: 48,654,492 (GRCm39) |
N26K |
probably damaging |
Het |
| Gtf2i |
A |
G |
5: 134,273,663 (GRCm39) |
F769L |
probably damaging |
Het |
| Gtf2i |
G |
T |
5: 134,315,781 (GRCm39) |
H164N |
probably benign |
Het |
| Ino80 |
G |
A |
2: 119,257,439 (GRCm39) |
T797I |
possibly damaging |
Het |
| Kcnma1 |
T |
C |
14: 23,700,233 (GRCm39) |
S188G |
possibly damaging |
Het |
| Krt82 |
A |
G |
15: 101,458,959 (GRCm39) |
M27T |
probably benign |
Het |
| Ncam2 |
A |
G |
16: 81,252,204 (GRCm39) |
K216E |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,100,495 (GRCm39) |
Q95R |
probably benign |
Het |
| Or4c102 |
T |
A |
2: 88,423,062 (GRCm39) |
S305T |
probably benign |
Het |
| Pon1 |
C |
A |
6: 5,193,722 (GRCm39) |
V10L |
probably benign |
Het |
| Ptk2b |
T |
A |
14: 66,415,541 (GRCm39) |
N252Y |
possibly damaging |
Het |
| Rad51 |
G |
A |
2: 118,949,093 (GRCm39) |
C31Y |
probably benign |
Het |
| Sbf2 |
A |
G |
7: 109,919,946 (GRCm39) |
F1525L |
probably benign |
Het |
| Sec11a |
T |
C |
7: 80,557,760 (GRCm39) |
D173G |
unknown |
Het |
| Sftpd |
C |
T |
14: 40,896,466 (GRCm39) |
R239H |
probably benign |
Het |
| Shq1 |
T |
A |
6: 100,641,431 (GRCm39) |
Y150F |
probably damaging |
Het |
| Slc39a11 |
A |
G |
11: 113,414,449 (GRCm39) |
V50A |
probably damaging |
Het |
| Snrnp25 |
A |
T |
11: 32,155,622 (GRCm39) |
M1L |
probably benign |
Het |
| Tgm6 |
A |
T |
2: 129,983,776 (GRCm39) |
K312* |
probably null |
Het |
| Tln1 |
C |
A |
4: 43,546,895 (GRCm39) |
R827L |
probably damaging |
Het |
| Trim37 |
A |
T |
11: 87,057,426 (GRCm39) |
|
probably null |
Het |
| Zdhhc13 |
T |
A |
7: 48,472,328 (GRCm39) |
N495K |
probably benign |
Het |
| Zfp280b |
C |
T |
10: 75,875,126 (GRCm39) |
T335I |
possibly damaging |
Het |
| Zfp583 |
T |
A |
7: 6,328,542 (GRCm39) |
T16S |
probably benign |
Het |
| Zgpat |
C |
A |
2: 181,021,844 (GRCm39) |
D423E |
probably benign |
Het |
|
| Other mutations in Or1e1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:Or1e1c
|
APN |
11 |
73,265,833 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01462:Or1e1c
|
APN |
11 |
73,265,578 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
IGL01725:Or1e1c
|
APN |
11 |
73,265,982 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL02225:Or1e1c
|
APN |
11 |
73,265,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0006:Or1e1c
|
UTSW |
11 |
73,266,414 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0090:Or1e1c
|
UTSW |
11 |
73,266,402 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0743:Or1e1c
|
UTSW |
11 |
73,265,715 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0884:Or1e1c
|
UTSW |
11 |
73,265,715 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1102:Or1e1c
|
UTSW |
11 |
73,265,700 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1582:Or1e1c
|
UTSW |
11 |
73,266,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Or1e1c
|
UTSW |
11 |
73,266,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1929:Or1e1c
|
UTSW |
11 |
73,266,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1941:Or1e1c
|
UTSW |
11 |
73,266,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4738:Or1e1c
|
UTSW |
11 |
73,266,176 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4947:Or1e1c
|
UTSW |
11 |
73,266,243 (GRCm39) |
nonsense |
probably null |
|
|
R5837:Or1e1c
|
UTSW |
11 |
73,266,474 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6440:Or1e1c
|
UTSW |
11 |
73,266,173 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6736:Or1e1c
|
UTSW |
11 |
73,266,402 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7254:Or1e1c
|
UTSW |
11 |
73,266,201 (GRCm39) |
missense |
probably benign |
|
|
R7354:Or1e1c
|
UTSW |
11 |
73,266,201 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7437:Or1e1c
|
UTSW |
11 |
73,265,844 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7918:Or1e1c
|
UTSW |
11 |
73,265,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8842:Or1e1c
|
UTSW |
11 |
73,266,186 (GRCm39) |
missense |
probably benign |
|
|
R8985:Or1e1c
|
UTSW |
11 |
73,266,252 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9416:Or1e1c
|
UTSW |
11 |
73,265,790 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9683:Or1e1c
|
UTSW |
11 |
73,265,811 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9789:Or1e1c
|
UTSW |
11 |
73,265,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTGCAGACCTTGAAAGCTTCC -3'
(R):5'- TGGAGAAGGCTTTACGGATG -3'
Sequencing Primer
(F):5'- CATGGCCTATGACCGCTATGTG -3'
(R):5'- TTTACGGATGCCTCGAGC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation