Incidental Mutation 'R3622:Or1e30'
| ID |
268684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1e30
|
| Ensembl Gene |
ENSMUSG00000069818 |
| Gene Name |
olfactory receptor family 1 subfamily E member 30 |
| Synonyms |
Olfr390, MOR135-26, GA_x6K02T2P1NL-3938806-3939741 |
| MMRRC Submission |
040677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.146)
|
| Stock # |
R3622 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
73677766-73678701 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73678567 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 268
(T268A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092919]
[ENSMUST00000120081]
[ENSMUST00000206815]
[ENSMUST00000215161]
|
| AlphaFold |
Q8VEZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092919
AA Change: T268A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000090598
Gene: ENSMUSG00000069818
AA Change: T268A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
2.1e-61 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
7.2e-9 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
6.8e-28 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000120081
AA Change: T268A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000113472
Gene: ENSMUSG00000069818
AA Change: T268A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
7.2e-9 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.4e-36 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
5.6e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206815
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215161
AA Change: T268A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| Meta Mutation Damage Score |
0.0882 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (42/42) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
A |
7: 119,950,036 (GRCm39) |
Y503* |
probably null |
Het |
| Akap9 |
C |
A |
5: 4,026,235 (GRCm39) |
Q1297K |
possibly damaging |
Het |
| Dffb |
T |
C |
4: 154,049,976 (GRCm39) |
T296A |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,631 (GRCm39) |
|
probably null |
Het |
| Elp1 |
A |
T |
4: 56,759,925 (GRCm39) |
|
probably null |
Het |
| Grid2ip |
T |
C |
5: 143,371,774 (GRCm39) |
S666P |
probably damaging |
Het |
| Gucy2e |
T |
A |
11: 69,115,877 (GRCm39) |
E835V |
probably damaging |
Het |
| Hdac5 |
G |
A |
11: 102,086,644 (GRCm39) |
P120S |
probably benign |
Het |
| Htr1d |
T |
C |
4: 136,170,815 (GRCm39) |
I348T |
probably damaging |
Het |
| Hyal4 |
A |
T |
6: 24,765,737 (GRCm39) |
S364C |
probably damaging |
Het |
| Igkv1-133 |
A |
T |
6: 67,701,944 (GRCm39) |
Q16L |
probably benign |
Het |
| Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
T |
6: 17,549,085 (GRCm39) |
D979V |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,772,245 (GRCm39) |
T1702A |
probably damaging |
Het |
| Midn |
A |
G |
10: 79,986,144 (GRCm39) |
D78G |
probably benign |
Het |
| Muc5b |
T |
C |
7: 141,405,595 (GRCm39) |
|
probably benign |
Het |
| Oma1 |
T |
C |
4: 103,223,288 (GRCm39) |
I491T |
probably benign |
Het |
| Or5ak24 |
C |
T |
2: 85,260,837 (GRCm39) |
C112Y |
probably benign |
Het |
| Or5b107 |
T |
A |
19: 13,143,020 (GRCm39) |
M214K |
probably benign |
Het |
| Or8b48 |
A |
G |
9: 38,492,792 (GRCm39) |
Y73C |
probably damaging |
Het |
| Pbld2 |
T |
C |
10: 62,897,470 (GRCm39) |
L57P |
probably damaging |
Het |
| Phka2 |
T |
A |
X: 159,327,291 (GRCm39) |
Y334* |
probably null |
Het |
| Plin4 |
G |
T |
17: 56,411,112 (GRCm39) |
T973K |
possibly damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,515 (GRCm39) |
R143H |
possibly damaging |
Het |
| Rps18 |
G |
C |
17: 34,171,247 (GRCm39) |
|
probably null |
Het |
| Samd9l |
A |
T |
6: 3,374,032 (GRCm39) |
C1076* |
probably null |
Het |
| Scml4 |
T |
C |
10: 42,806,607 (GRCm39) |
|
probably benign |
Het |
| Slc16a10 |
A |
G |
10: 40,017,890 (GRCm39) |
V48A |
probably benign |
Het |
| Slc6a5 |
T |
C |
7: 49,567,371 (GRCm39) |
V275A |
probably benign |
Het |
| Smad9 |
C |
T |
3: 54,696,705 (GRCm39) |
R257W |
probably damaging |
Het |
| Snrpb |
C |
A |
2: 130,017,299 (GRCm39) |
R73L |
probably null |
Het |
| Srsf9 |
C |
T |
5: 115,468,571 (GRCm39) |
A69V |
probably damaging |
Het |
| Stfa2 |
A |
G |
16: 36,224,433 (GRCm39) |
Y90H |
probably damaging |
Het |
| Tgm6 |
T |
A |
2: 129,993,681 (GRCm39) |
V640E |
possibly damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,640,451 (GRCm39) |
R1414C |
probably damaging |
Het |
| Tyk2 |
A |
T |
9: 21,038,606 (GRCm39) |
C8S |
probably damaging |
Het |
| Upp2 |
G |
A |
2: 58,680,128 (GRCm39) |
R300Q |
possibly damaging |
Het |
| Utp20 |
A |
G |
10: 88,593,855 (GRCm39) |
|
probably benign |
Het |
| Veph1 |
C |
T |
3: 66,122,858 (GRCm39) |
V224I |
probably benign |
Het |
| Vmn1r30 |
A |
T |
6: 58,412,437 (GRCm39) |
F132I |
probably benign |
Het |
| Vmn2r116 |
A |
G |
17: 23,605,025 (GRCm39) |
S113G |
probably benign |
Het |
| Vps53 |
A |
C |
11: 76,008,609 (GRCm39) |
V237G |
probably benign |
Het |
|
| Other mutations in Or1e30 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Or1e30
|
APN |
11 |
73,678,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01621:Or1e30
|
APN |
11 |
73,678,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01630:Or1e30
|
APN |
11 |
73,678,687 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01866:Or1e30
|
APN |
11 |
73,678,654 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL02577:Or1e30
|
APN |
11 |
73,677,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02617:Or1e30
|
APN |
11 |
73,678,560 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03017:Or1e30
|
APN |
11 |
73,678,344 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03215:Or1e30
|
APN |
11 |
73,678,211 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03342:Or1e30
|
APN |
11 |
73,678,309 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03098:Or1e30
|
UTSW |
11 |
73,678,529 (GRCm39) |
missense |
probably benign |
0.29 |
|
R0115:Or1e30
|
UTSW |
11 |
73,678,141 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R0217:Or1e30
|
UTSW |
11 |
73,678,214 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1971:Or1e30
|
UTSW |
11 |
73,678,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2033:Or1e30
|
UTSW |
11 |
73,678,264 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2058:Or1e30
|
UTSW |
11 |
73,678,100 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3051:Or1e30
|
UTSW |
11 |
73,678,060 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3913:Or1e30
|
UTSW |
11 |
73,678,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4545:Or1e30
|
UTSW |
11 |
73,677,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4656:Or1e30
|
UTSW |
11 |
73,678,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5120:Or1e30
|
UTSW |
11 |
73,677,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5635:Or1e30
|
UTSW |
11 |
73,678,460 (GRCm39) |
missense |
probably benign |
0.26 |
|
R6020:Or1e30
|
UTSW |
11 |
73,678,378 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6151:Or1e30
|
UTSW |
11 |
73,678,521 (GRCm39) |
nonsense |
probably null |
|
|
R6885:Or1e30
|
UTSW |
11 |
73,677,926 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6984:Or1e30
|
UTSW |
11 |
73,678,603 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7057:Or1e30
|
UTSW |
11 |
73,677,974 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7120:Or1e30
|
UTSW |
11 |
73,677,940 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7704:Or1e30
|
UTSW |
11 |
73,678,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Or1e30
|
UTSW |
11 |
73,677,766 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R9100:Or1e30
|
UTSW |
11 |
73,678,687 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9258:Or1e30
|
UTSW |
11 |
73,678,281 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9384:Or1e30
|
UTSW |
11 |
73,677,796 (GRCm39) |
missense |
probably benign |
|
|
R9421:Or1e30
|
UTSW |
11 |
73,677,927 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9450:Or1e30
|
UTSW |
11 |
73,678,101 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R9698:Or1e30
|
UTSW |
11 |
73,678,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATAGGAGGGCTTGTTGTCC -3'
(R):5'- GTTTAGTAGAATAGACTACACTGGGG -3'
Sequencing Primer
(F):5'- GGGCTTGTTGTCCTACTTCC -3'
(R):5'- ATAGACTACACTGGGGAAAAGAC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation