Incidental Mutation 'R3158:Or11h4'
| ID |
263598 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or11h4
|
| Ensembl Gene |
ENSMUSG00000059069 |
| Gene Name |
olfactory receptor family 11 subfamily H member 4 |
| Synonyms |
MOR106-1, Olfr749, GA_x6K02T2PMLR-6484046-6483105 |
| MMRRC Submission |
040609-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.064)
|
| Stock # |
R3158 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
50973676-50981781 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50974271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 116
(V116A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074674]
[ENSMUST00000214290]
|
| AlphaFold |
E9Q438 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074674
AA Change: V116A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000074242
Gene: ENSMUSG00000059069
AA Change: V116A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
5.2e-53 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
7.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214290
AA Change: V116A
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| Meta Mutation Damage Score |
0.1470 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
97% (35/36) |
| 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]
PHENOTYPE: A reporter allele shows expression of this olfactory receptor by embryonic day 15.5 and throughout olfactory development there is an increase in the numbers of expressing olfactory sensory neurons with expression localized to the dorsal main olfactory epithelium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc2 |
A |
T |
11: 101,220,102 (GRCm39) |
N696I |
probably damaging |
Het |
| Ccr4 |
G |
T |
9: 114,321,350 (GRCm39) |
N238K |
probably benign |
Het |
| Cd300e |
A |
C |
11: 114,952,849 (GRCm39) |
M1R |
probably null |
Het |
| Cep95 |
A |
G |
11: 106,700,013 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,834,918 (GRCm39) |
I1096V |
probably benign |
Het |
| Clca4b |
C |
A |
3: 144,617,878 (GRCm39) |
V742L |
probably benign |
Het |
| Diaph3 |
A |
T |
14: 86,893,892 (GRCm39) |
I39N |
possibly damaging |
Het |
| Dll3 |
A |
T |
7: 27,993,520 (GRCm39) |
D566E |
possibly damaging |
Het |
| Dmpk |
A |
G |
7: 18,826,944 (GRCm39) |
T579A |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,346,965 (GRCm39) |
Y84F |
possibly damaging |
Het |
| Eya1 |
G |
A |
1: 14,374,691 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,944,940 (GRCm39) |
T1278A |
possibly damaging |
Het |
| Galnt12 |
A |
G |
4: 47,104,264 (GRCm39) |
D174G |
probably damaging |
Het |
| Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
| Gm7853 |
A |
G |
14: 35,811,358 (GRCm39) |
|
noncoding transcript |
Het |
| Hsd3b5 |
G |
A |
3: 98,529,375 (GRCm39) |
A85V |
probably benign |
Het |
| Itga11 |
A |
G |
9: 62,676,560 (GRCm39) |
K916R |
probably benign |
Het |
| Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
| Krt6a |
T |
C |
15: 101,599,801 (GRCm39) |
Y437C |
probably damaging |
Het |
| Lrp5 |
A |
G |
19: 3,665,849 (GRCm39) |
S707P |
probably damaging |
Het |
| Med14 |
G |
A |
X: 12,550,330 (GRCm39) |
|
probably benign |
Het |
| Mmp11 |
C |
T |
10: 75,762,948 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,168,637 (GRCm39) |
H950R |
probably damaging |
Het |
| Myo1g |
G |
T |
11: 6,464,527 (GRCm39) |
T511K |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,701,499 (GRCm39) |
F2154S |
probably damaging |
Het |
| Or5b101 |
G |
C |
19: 13,005,411 (GRCm39) |
A94G |
probably benign |
Het |
| Or8h8 |
C |
T |
2: 86,752,950 (GRCm39) |
E309K |
probably benign |
Het |
| Prss52 |
G |
T |
14: 64,350,992 (GRCm39) |
W259L |
probably damaging |
Het |
| Sbk2 |
G |
A |
7: 4,960,526 (GRCm39) |
R215* |
probably null |
Het |
| Sectm1a |
A |
G |
11: 120,959,603 (GRCm39) |
I175T |
probably benign |
Het |
| Smu1 |
T |
A |
4: 40,754,529 (GRCm39) |
R123S |
possibly damaging |
Het |
| Stk3 |
A |
G |
15: 35,008,387 (GRCm39) |
S178P |
possibly damaging |
Het |
| Tle6 |
T |
C |
10: 81,431,038 (GRCm39) |
|
probably null |
Het |
| Vmn2r37 |
C |
T |
7: 9,220,713 (GRCm39) |
M383I |
probably benign |
Het |
|
| Other mutations in Or11h4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03188:Or11h4
|
APN |
14 |
50,974,315 (GRCm39) |
nonsense |
probably null |
|
|
R0141:Or11h4
|
UTSW |
14 |
50,973,840 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0462:Or11h4
|
UTSW |
14 |
50,974,554 (GRCm39) |
missense |
probably benign |
|
|
R1424:Or11h4
|
UTSW |
14 |
50,974,521 (GRCm39) |
missense |
probably benign |
|
|
R1791:Or11h4
|
UTSW |
14 |
50,974,144 (GRCm39) |
small insertion |
probably benign |
|
|
R1912:Or11h4
|
UTSW |
14 |
50,974,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Or11h4
|
UTSW |
14 |
50,974,033 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2171:Or11h4
|
UTSW |
14 |
50,973,876 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2176:Or11h4
|
UTSW |
14 |
50,973,681 (GRCm39) |
missense |
probably benign |
|
|
R2184:Or11h4
|
UTSW |
14 |
50,974,059 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5068:Or11h4
|
UTSW |
14 |
50,974,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5069:Or11h4
|
UTSW |
14 |
50,974,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5070:Or11h4
|
UTSW |
14 |
50,974,531 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5733:Or11h4
|
UTSW |
14 |
50,974,509 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6155:Or11h4
|
UTSW |
14 |
50,974,076 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6728:Or11h4
|
UTSW |
14 |
50,974,296 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7033:Or11h4
|
UTSW |
14 |
50,974,164 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7276:Or11h4
|
UTSW |
14 |
50,974,187 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7535:Or11h4
|
UTSW |
14 |
50,974,122 (GRCm39) |
missense |
probably benign |
0.37 |
|
R8124:Or11h4
|
UTSW |
14 |
50,973,743 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9021:Or11h4
|
UTSW |
14 |
50,974,554 (GRCm39) |
missense |
probably benign |
|
|
R9632:Or11h4
|
UTSW |
14 |
50,974,199 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9710:Or11h4
|
UTSW |
14 |
50,974,199 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAATGGGTCCATGTCACAGAG -3'
(R):5'- GTGACTCACGTCTACATACCCC -3'
Sequencing Primer
(F):5'- TCCATGTCACAGAGGAAGTGATC -3'
(R):5'- CGTCTACATACCCCCATGTAC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation