Incidental Mutation 'I2288:Or5w19'
| ID |
7909 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5w19
|
| Ensembl Gene |
ENSMUSG00000045225 |
| Gene Name |
olfactory receptor family 5 subfamily W member 19 |
| Synonyms |
Olfr1152, MOR177-12, GA_x6K02T2Q125-49372426-49373358 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
I2288 (G3)
of strain
633
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
87698337-87699269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 87698479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 48
(I48N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051058]
[ENSMUST00000213308]
|
| AlphaFold |
Q7TR34 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000051058
AA Change: I48N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000054645
Gene: ENSMUSG00000045225
AA Change: I48N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
4e-46 |
PFAM |
|
Pfam:7tm_1
|
40 |
290 |
1e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121994
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213308
AA Change: I48N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
|
| Validation Efficiency |
71% (138/195) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
A |
T |
8: 25,174,677 (GRCm39) |
I696N |
probably damaging |
Het |
| Adgra1 |
T |
C |
7: 139,432,495 (GRCm39) |
I111T |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,585,643 (GRCm39) |
L4607P |
probably damaging |
Het |
| Alppl2 |
A |
T |
1: 87,015,898 (GRCm39) |
M284K |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,243,478 (GRCm39) |
K1024E |
probably damaging |
Het |
| Arid2 |
T |
C |
15: 96,267,392 (GRCm39) |
V624A |
possibly damaging |
Het |
| Babam1 |
G |
A |
8: 71,850,467 (GRCm39) |
R32Q |
probably damaging |
Het |
| Camk1g |
C |
T |
1: 193,033,414 (GRCm39) |
|
probably benign |
Homo |
| Cfap44 |
C |
A |
16: 44,269,501 (GRCm39) |
Y1168* |
probably null |
Het |
| Clasp1 |
A |
G |
1: 118,492,959 (GRCm39) |
H1168R |
probably benign |
Het |
| Crkl |
A |
G |
16: 17,301,612 (GRCm39) |
T289A |
probably damaging |
Het |
| Dlec1 |
A |
G |
9: 118,972,669 (GRCm39) |
D1464G |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,309,077 (GRCm39) |
H1891Q |
probably damaging |
Het |
| Dnah10 |
G |
A |
5: 124,807,164 (GRCm39) |
A150T |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,882,428 (GRCm39) |
T667A |
probably benign |
Het |
| Fpr-rs3 |
A |
T |
17: 20,844,757 (GRCm39) |
L128Q |
probably damaging |
Het |
| Fxn |
C |
T |
19: 24,239,431 (GRCm39) |
|
probably benign |
Homo |
| Golgb1 |
A |
G |
16: 36,718,904 (GRCm39) |
H270R |
probably benign |
Het |
| Gramd1b |
T |
C |
9: 40,218,101 (GRCm39) |
I572V |
probably damaging |
Het |
| Iqch |
A |
T |
9: 63,408,172 (GRCm39) |
I664K |
probably benign |
Het |
| Kcnn2 |
T |
A |
18: 45,808,340 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,012,944 (GRCm39) |
I2001K |
probably damaging |
Het |
| Lrrc40 |
T |
A |
3: 157,758,426 (GRCm39) |
I277K |
probably damaging |
Het |
| Myo1e |
A |
G |
9: 70,249,379 (GRCm39) |
E493G |
possibly damaging |
Homo |
| Nrcam |
C |
A |
12: 44,611,098 (GRCm39) |
H567Q |
probably benign |
Homo |
| Or52d3 |
T |
C |
7: 104,229,593 (GRCm39) |
C247R |
probably damaging |
Het |
| Or5bw2 |
A |
T |
7: 6,573,818 (GRCm39) |
Y276F |
probably damaging |
Homo |
| Parvg |
C |
A |
15: 84,212,981 (GRCm39) |
|
probably benign |
Het |
| Ripk4 |
A |
G |
16: 97,549,345 (GRCm39) |
V237A |
probably benign |
Het |
| Spam1 |
A |
G |
6: 24,796,477 (GRCm39) |
I143V |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,072,542 (GRCm39) |
|
probably benign |
Het |
| Taar4 |
A |
G |
10: 23,836,818 (GRCm39) |
T143A |
probably benign |
Het |
| Ttc12 |
T |
A |
9: 49,381,558 (GRCm39) |
M138L |
possibly damaging |
Het |
| Ttll9 |
A |
G |
2: 152,814,259 (GRCm39) |
|
probably benign |
Het |
| Usp34 |
T |
A |
11: 23,382,473 (GRCm39) |
|
probably benign |
Homo |
| Utrn |
A |
G |
10: 12,297,384 (GRCm39) |
Y675H |
probably damaging |
Het |
|
| Other mutations in Or5w19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01418:Or5w19
|
APN |
2 |
87,698,809 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01618:Or5w19
|
APN |
2 |
87,698,488 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02326:Or5w19
|
APN |
2 |
87,699,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03162:Or5w19
|
APN |
2 |
87,698,484 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03189:Or5w19
|
APN |
2 |
87,698,559 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0761:Or5w19
|
UTSW |
2 |
87,698,880 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1558:Or5w19
|
UTSW |
2 |
87,698,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1938:Or5w19
|
UTSW |
2 |
87,698,805 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3810:Or5w19
|
UTSW |
2 |
87,698,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3812:Or5w19
|
UTSW |
2 |
87,698,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4728:Or5w19
|
UTSW |
2 |
87,698,779 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4928:Or5w19
|
UTSW |
2 |
87,698,574 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5172:Or5w19
|
UTSW |
2 |
87,699,171 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5174:Or5w19
|
UTSW |
2 |
87,698,755 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6147:Or5w19
|
UTSW |
2 |
87,699,061 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6195:Or5w19
|
UTSW |
2 |
87,698,904 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6233:Or5w19
|
UTSW |
2 |
87,698,904 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6541:Or5w19
|
UTSW |
2 |
87,698,638 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7507:Or5w19
|
UTSW |
2 |
87,698,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8068:Or5w19
|
UTSW |
2 |
87,698,995 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8407:Or5w19
|
UTSW |
2 |
87,698,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9110:Or5w19
|
UTSW |
2 |
87,698,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9408:Or5w19
|
UTSW |
2 |
87,698,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9797:Or5w19
|
UTSW |
2 |
87,698,478 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
| Posted On |
2012-11-13 |
Incidental Mutation