Incidental Mutation 'R2363:Or1e17'
| ID |
247237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1e17
|
| Ensembl Gene |
ENSMUSG00000069816 |
| Gene Name |
olfactory receptor family 1 subfamily E member 17 |
| Synonyms |
GA_x6K02T2P1NL-4097159-4098136, MTPCR50, MOR135-27, Olfr23 |
| MMRRC Submission |
040344-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.220)
|
| Stock # |
R2363 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73827503-73833484 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73831182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 37
(T37A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092917]
[ENSMUST00000121280]
[ENSMUST00000214210]
|
| AlphaFold |
Q7TRX4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000092917
AA Change: T37A
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000090596
Gene: ENSMUSG00000069816
AA Change: T37A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
7.8e-60 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
3.8e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
9.3e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121280
AA Change: T37A
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000113870
Gene: ENSMUSG00000057050
AA Change: T37A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
1.3e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
4.3e-35 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
1.2e-44 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000214210
AA Change: T37A
PolyPhen 2
Score 0.559 (Sensitivity: 0.88; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1307 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
98% (51/52) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
C |
2: 103,397,528 (GRCm39) |
C153R |
probably damaging |
Het |
| Adam23 |
A |
G |
1: 63,596,650 (GRCm39) |
|
probably null |
Het |
| Adpgk |
G |
T |
9: 59,222,136 (GRCm39) |
M354I |
probably benign |
Het |
| Atmin |
G |
T |
8: 117,681,653 (GRCm39) |
|
probably null |
Het |
| C1rl |
G |
A |
6: 124,486,069 (GRCm39) |
G480D |
probably benign |
Het |
| C4b |
G |
A |
17: 34,955,032 (GRCm39) |
|
probably benign |
Het |
| Cacnb1 |
G |
A |
11: 97,903,672 (GRCm39) |
T127I |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,210 (GRCm39) |
V1626E |
probably benign |
Het |
| Cndp2 |
C |
T |
18: 84,686,694 (GRCm39) |
G443S |
probably damaging |
Het |
| Crb1 |
A |
G |
1: 139,265,016 (GRCm39) |
I134T |
possibly damaging |
Het |
| Dnaaf3 |
T |
C |
7: 4,535,276 (GRCm39) |
|
probably null |
Het |
| Enam |
C |
T |
5: 88,651,008 (GRCm39) |
P764L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fbln1 |
G |
A |
15: 85,111,341 (GRCm39) |
|
probably null |
Het |
| Flnb |
A |
G |
14: 7,945,950 (GRCm38) |
I2452V |
possibly damaging |
Het |
| Fmo3 |
A |
T |
1: 162,781,884 (GRCm39) |
W490R |
probably damaging |
Het |
| Gabrb1 |
C |
T |
5: 72,026,916 (GRCm39) |
R106* |
probably null |
Het |
| Galnt4 |
C |
T |
10: 98,944,923 (GRCm39) |
T216I |
probably damaging |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Golph3 |
A |
G |
15: 12,349,649 (GRCm39) |
D223G |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,151,473 (GRCm39) |
F905I |
possibly damaging |
Het |
| Il23r |
T |
C |
6: 67,429,401 (GRCm39) |
T314A |
probably benign |
Het |
| Lrrtm4 |
T |
C |
6: 79,998,857 (GRCm39) |
W90R |
probably damaging |
Het |
| Maml2 |
C |
T |
9: 13,532,541 (GRCm39) |
T585I |
probably damaging |
Het |
| Mpp3 |
G |
A |
11: 101,911,312 (GRCm39) |
A170V |
probably damaging |
Het |
| Naip6 |
T |
A |
13: 100,452,928 (GRCm39) |
K44N |
possibly damaging |
Het |
| Or10aa3 |
C |
T |
1: 173,878,814 (GRCm39) |
R292C |
probably damaging |
Het |
| Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
| Or4k51 |
C |
T |
2: 111,585,139 (GRCm39) |
P182S |
probably damaging |
Het |
| Or51b6 |
T |
A |
7: 103,556,267 (GRCm39) |
M207K |
probably benign |
Het |
| Or6f2 |
A |
G |
7: 139,756,878 (GRCm39) |
T282A |
probably damaging |
Het |
| Or7e165 |
T |
G |
9: 19,694,892 (GRCm39) |
I154M |
probably benign |
Het |
| Or8c10 |
T |
C |
9: 38,279,394 (GRCm39) |
I174T |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,535,521 (GRCm39) |
V204E |
probably benign |
Het |
| Pcdhb10 |
T |
A |
18: 37,547,190 (GRCm39) |
C755* |
probably null |
Het |
| Pcdhb20 |
A |
G |
18: 37,638,725 (GRCm39) |
Y417C |
probably damaging |
Het |
| Pkd1l3 |
G |
T |
8: 110,355,341 (GRCm39) |
W723L |
probably benign |
Het |
| Plin1 |
C |
T |
7: 79,376,139 (GRCm39) |
|
probably null |
Het |
| Polr3a |
A |
T |
14: 24,525,960 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
A |
T |
10: 58,314,758 (GRCm39) |
K1826I |
possibly damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,626,608 (GRCm39) |
I970V |
possibly damaging |
Het |
| Rdx |
C |
A |
9: 51,980,173 (GRCm39) |
F255L |
probably damaging |
Het |
| Rp1l1 |
A |
T |
14: 64,267,447 (GRCm39) |
H1011L |
possibly damaging |
Het |
| Serpina6 |
T |
C |
12: 103,614,868 (GRCm39) |
D326G |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,966 (GRCm39) |
E909G |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,047,697 (GRCm39) |
V1015D |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,920 (GRCm39) |
Y629N |
probably damaging |
Het |
| Triml1 |
A |
G |
8: 43,594,408 (GRCm39) |
S8P |
probably damaging |
Het |
|
| Other mutations in Or1e17 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01546:Or1e17
|
APN |
11 |
73,832,020 (GRCm39) |
missense |
probably benign |
|
|
IGL02290:Or1e17
|
APN |
11 |
73,831,695 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02301:Or1e17
|
APN |
11 |
73,831,894 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02303:Or1e17
|
APN |
11 |
73,831,276 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02510:Or1e17
|
APN |
11 |
73,831,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02558:Or1e17
|
APN |
11 |
73,831,651 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02712:Or1e17
|
APN |
11 |
73,831,756 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02795:Or1e17
|
APN |
11 |
73,831,755 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02800:Or1e17
|
APN |
11 |
73,831,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03350:Or1e17
|
APN |
11 |
73,831,664 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0277:Or1e17
|
UTSW |
11 |
73,831,773 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0323:Or1e17
|
UTSW |
11 |
73,831,773 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0333:Or1e17
|
UTSW |
11 |
73,831,593 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R0389:Or1e17
|
UTSW |
11 |
73,831,879 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0391:Or1e17
|
UTSW |
11 |
73,831,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0723:Or1e17
|
UTSW |
11 |
73,831,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1469:Or1e17
|
UTSW |
11 |
73,831,383 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1469:Or1e17
|
UTSW |
11 |
73,831,383 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1900:Or1e17
|
UTSW |
11 |
73,831,486 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4236:Or1e17
|
UTSW |
11 |
73,831,182 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R4630:Or1e17
|
UTSW |
11 |
73,831,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4717:Or1e17
|
UTSW |
11 |
73,831,641 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4801:Or1e17
|
UTSW |
11 |
73,831,696 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4802:Or1e17
|
UTSW |
11 |
73,831,696 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4964:Or1e17
|
UTSW |
11 |
73,832,028 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5119:Or1e17
|
UTSW |
11 |
73,831,378 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5470:Or1e17
|
UTSW |
11 |
73,831,696 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6196:Or1e17
|
UTSW |
11 |
73,831,635 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6551:Or1e17
|
UTSW |
11 |
73,831,129 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7695:Or1e17
|
UTSW |
11 |
73,831,720 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7979:Or1e17
|
UTSW |
11 |
73,831,401 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8074:Or1e17
|
UTSW |
11 |
73,831,213 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8834:Or1e17
|
UTSW |
11 |
73,831,164 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R9344:Or1e17
|
UTSW |
11 |
73,831,744 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9352:Or1e17
|
UTSW |
11 |
73,831,470 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9800:Or1e17
|
UTSW |
11 |
73,831,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
X0065:Or1e17
|
UTSW |
11 |
73,831,150 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1088:Or1e17
|
UTSW |
11 |
73,831,964 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCCCTTGTCTTACGTATATGTTC -3'
(R):5'- ACATAACGGTCATAGGCCATG -3'
Sequencing Primer
(F):5'- AAACTGTCATCTCCCGGT -3'
(R):5'- TACATTTGTGCAAGGCAGCC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation