Incidental Mutation 'R6116:Or11a4'
ID |
485135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Or11a4
|
Ensembl Gene |
ENSMUSG00000064121 |
Gene Name |
olfactory receptor family 11 subfamily A member 4 |
Synonyms |
MOR121-1, Olfr96, GA_x6K02T2PSCP-1665046-1665987 |
MMRRC Submission |
044265-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.164)
|
Stock # |
R6116 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
37535982-37537032 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 37536459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 148
(T148A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151151
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078209]
[ENSMUST00000213475]
[ENSMUST00000214482]
|
AlphaFold |
Q8VFE3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078209
AA Change: T148A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000077338 Gene: ENSMUSG00000064121 AA Change: T148A
Domain | Start | End | E-Value | Type |
Pfam:7tm_4
|
33 |
309 |
6.6e-53 |
PFAM |
Pfam:7tm_1
|
43 |
291 |
6.2e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213475
AA Change: T148A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000214482
AA Change: T148A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,990,327 (GRCm39) |
|
probably benign |
Het |
Apc |
A |
T |
18: 34,449,508 (GRCm39) |
I2101F |
probably damaging |
Het |
Bpifa3 |
G |
A |
2: 153,975,633 (GRCm39) |
V68I |
possibly damaging |
Het |
Csmd1 |
T |
A |
8: 16,261,864 (GRCm39) |
I878F |
probably damaging |
Het |
Cyp2c67 |
A |
T |
19: 39,605,879 (GRCm39) |
M339K |
probably damaging |
Het |
Dock3 |
A |
G |
9: 106,809,161 (GRCm39) |
Y1321H |
probably damaging |
Het |
Dsc1 |
G |
T |
18: 20,230,356 (GRCm39) |
D316E |
probably benign |
Het |
Eno3 |
C |
T |
11: 70,552,401 (GRCm39) |
T351M |
possibly damaging |
Het |
Erbb2 |
T |
A |
11: 98,318,225 (GRCm39) |
F487Y |
probably damaging |
Het |
Exosc10 |
T |
C |
4: 148,657,810 (GRCm39) |
L652P |
probably benign |
Het |
Glmn |
A |
T |
5: 107,705,206 (GRCm39) |
M470K |
probably damaging |
Het |
Gm15446 |
T |
A |
5: 110,090,902 (GRCm39) |
C385S |
probably damaging |
Het |
Hspa8 |
A |
G |
9: 40,716,271 (GRCm39) |
E581G |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,898,205 (GRCm39) |
D787G |
probably benign |
Het |
Igkv12-44 |
T |
C |
6: 69,791,838 (GRCm39) |
T42A |
possibly damaging |
Het |
Itsn2 |
T |
C |
12: 4,679,939 (GRCm39) |
|
probably benign |
Het |
Jade2 |
T |
C |
11: 51,726,460 (GRCm39) |
E84G |
probably damaging |
Het |
Lpar3 |
T |
A |
3: 145,946,352 (GRCm39) |
M10K |
possibly damaging |
Het |
Lpin2 |
A |
G |
17: 71,550,925 (GRCm39) |
D695G |
probably damaging |
Het |
Mosmo |
T |
A |
7: 120,325,418 (GRCm39) |
L7H |
probably damaging |
Het |
Ms4a8a |
C |
T |
19: 11,058,436 (GRCm39) |
A9T |
unknown |
Het |
Myb |
T |
C |
10: 21,030,653 (GRCm39) |
D48G |
probably damaging |
Het |
Neurod6 |
T |
C |
6: 55,655,776 (GRCm39) |
Y287C |
probably damaging |
Het |
Olr1 |
T |
A |
6: 129,476,947 (GRCm39) |
D106V |
probably damaging |
Het |
Or8b4 |
A |
G |
9: 37,829,955 (GRCm39) |
M1V |
probably null |
Het |
Peg10 |
C |
CCCATCAGGA |
6: 4,756,351 (GRCm39) |
|
probably benign |
Het |
Plch1 |
C |
T |
3: 63,609,444 (GRCm39) |
R912H |
probably damaging |
Het |
Ppfia3 |
T |
C |
7: 45,004,127 (GRCm39) |
Y505C |
probably damaging |
Het |
Sdk2 |
T |
A |
11: 113,745,190 (GRCm39) |
I702F |
probably damaging |
Het |
Slc16a11 |
T |
C |
11: 70,106,262 (GRCm39) |
F119L |
probably benign |
Het |
Slc2a10 |
A |
C |
2: 165,359,623 (GRCm39) |
T496P |
probably damaging |
Het |
Slc7a2 |
T |
C |
8: 41,353,206 (GRCm39) |
Y181H |
probably damaging |
Het |
Spata31e5 |
G |
A |
1: 28,817,780 (GRCm39) |
A84V |
probably benign |
Het |
Stab2 |
G |
T |
10: 86,743,054 (GRCm39) |
P1185Q |
probably damaging |
Het |
Tcf7l2 |
T |
A |
19: 55,907,446 (GRCm39) |
S335R |
probably damaging |
Het |
Ttc41 |
G |
A |
10: 86,594,952 (GRCm39) |
|
probably null |
Het |
Vmn2r32 |
A |
T |
7: 7,467,092 (GRCm39) |
I812N |
probably damaging |
Het |
Wdr24 |
C |
T |
17: 26,043,579 (GRCm39) |
H134Y |
probably benign |
Het |
|
Other mutations in Or11a4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01868:Or11a4
|
APN |
17 |
37,536,043 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02151:Or11a4
|
APN |
17 |
37,536,057 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02335:Or11a4
|
APN |
17 |
37,536,217 (GRCm39) |
missense |
probably damaging |
0.97 |
R0360:Or11a4
|
UTSW |
17 |
37,536,934 (GRCm39) |
missense |
possibly damaging |
0.49 |
R0364:Or11a4
|
UTSW |
17 |
37,536,934 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1763:Or11a4
|
UTSW |
17 |
37,536,321 (GRCm39) |
missense |
probably benign |
0.02 |
R3977:Or11a4
|
UTSW |
17 |
37,536,049 (GRCm39) |
missense |
probably benign |
0.24 |
R6248:Or11a4
|
UTSW |
17 |
37,536,451 (GRCm39) |
nonsense |
probably null |
|
R6378:Or11a4
|
UTSW |
17 |
37,536,688 (GRCm39) |
missense |
probably benign |
0.21 |
R6518:Or11a4
|
UTSW |
17 |
37,536,159 (GRCm39) |
missense |
probably benign |
0.05 |
R6614:Or11a4
|
UTSW |
17 |
37,536,790 (GRCm39) |
missense |
probably benign |
0.01 |
R6798:Or11a4
|
UTSW |
17 |
37,536,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R6874:Or11a4
|
UTSW |
17 |
37,536,238 (GRCm39) |
missense |
probably benign |
0.00 |
R7468:Or11a4
|
UTSW |
17 |
37,536,276 (GRCm39) |
missense |
probably benign |
0.01 |
R7820:Or11a4
|
UTSW |
17 |
37,536,786 (GRCm39) |
missense |
probably benign |
0.00 |
R7852:Or11a4
|
UTSW |
17 |
37,536,163 (GRCm39) |
missense |
probably benign |
0.01 |
R8322:Or11a4
|
UTSW |
17 |
37,536,241 (GRCm39) |
missense |
probably damaging |
0.99 |
R8481:Or11a4
|
UTSW |
17 |
37,536,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R8933:Or11a4
|
UTSW |
17 |
37,536,346 (GRCm39) |
missense |
possibly damaging |
0.96 |
X0027:Or11a4
|
UTSW |
17 |
37,536,634 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCATATCTGTGGCTGGCTG -3'
(R):5'- GCACAGTCACTACAATCTGAGC -3'
Sequencing Primer
(F):5'- CTGGCTGCTTGCTCCAG -3'
(R):5'- AGTCACTACAATCTGAGCATAGG -3'
|
Posted On |
2017-08-16 |