Incidental Mutation 'R3835:Or4a79'
| ID |
275571 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4a79
|
| Ensembl Gene |
ENSMUSG00000110819 |
| Gene Name |
olfactory receptor family 4 subfamily A member 79 |
| Synonyms |
GA_x6K02T2Q125-51162884-51161940, Olfr1252, MOR231-22_p |
| MMRRC Submission |
040890-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R3835 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89551509-89552453 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 89551799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 219
(I219L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000186710]
[ENSMUST00000187990]
[ENSMUST00000213196]
[ENSMUST00000216203]
|
| AlphaFold |
Q7TQZ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099766
AA Change: I219L
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000097354
Gene: ENSMUSG00000100601
AA Change: I219L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
6e-49 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
2.8e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000186710
AA Change: I219L
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140045
Gene: ENSMUSG00000110819
AA Change: I219L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
285 |
5.1e-28 |
PFAM |
|
Pfam:7tm_4
|
137 |
278 |
1e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187990
AA Change: I219L
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000140066
Gene: ENSMUSG00000111715
AA Change: I219L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
285 |
2.7e-28 |
PFAM |
|
Pfam:7tm_4
|
137 |
278 |
3.5e-37 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213196
AA Change: I219L
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216203
AA Change: I219L
PolyPhen 2
Score 0.753 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (43/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl4 |
T |
C |
3: 151,216,254 (GRCm39) |
I479T |
probably damaging |
Het |
| Adh6a |
G |
A |
3: 138,033,275 (GRCm39) |
|
probably null |
Het |
| Anapc7 |
A |
G |
5: 122,581,940 (GRCm39) |
T528A |
possibly damaging |
Het |
| Ap5b1 |
A |
G |
19: 5,618,918 (GRCm39) |
T113A |
possibly damaging |
Het |
| Apaf1 |
G |
A |
10: 90,895,449 (GRCm39) |
R439C |
probably benign |
Het |
| Apoa5 |
A |
T |
9: 46,181,878 (GRCm39) |
H318L |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,169,911 (GRCm39) |
R1545G |
probably benign |
Het |
| Btnl9 |
T |
G |
11: 49,071,512 (GRCm39) |
T104P |
probably damaging |
Het |
| Cimip3 |
AC |
A |
17: 47,744,348 (GRCm39) |
|
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,533,449 (GRCm39) |
K107R |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,007,128 (GRCm39) |
R610W |
probably damaging |
Het |
| Eno1 |
T |
C |
4: 150,331,119 (GRCm39) |
S186P |
probably benign |
Het |
| Gipc2 |
C |
A |
3: 151,833,823 (GRCm39) |
V153F |
probably damaging |
Het |
| Gpt |
A |
G |
15: 76,582,783 (GRCm39) |
Y295C |
probably damaging |
Het |
| Kcnh5 |
T |
A |
12: 74,945,044 (GRCm39) |
Q735L |
probably benign |
Het |
| Lrrc10 |
A |
G |
10: 116,881,691 (GRCm39) |
N122D |
possibly damaging |
Het |
| Lrrc37 |
C |
A |
11: 103,510,836 (GRCm39) |
L377F |
unknown |
Het |
| Meis2 |
T |
C |
2: 115,752,228 (GRCm39) |
H301R |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,412,918 (GRCm39) |
I1955F |
unknown |
Het |
| Nalcn |
A |
T |
14: 123,530,834 (GRCm39) |
|
probably benign |
Het |
| Nmt2 |
T |
C |
2: 3,315,723 (GRCm39) |
|
probably benign |
Het |
| Nnt |
C |
T |
13: 119,509,031 (GRCm39) |
G403R |
probably damaging |
Het |
| Or4d6 |
T |
A |
19: 12,086,764 (GRCm39) |
I49F |
possibly damaging |
Het |
| Or5b109 |
A |
T |
19: 13,212,103 (GRCm39) |
D163V |
probably benign |
Het |
| Ovgp1 |
A |
G |
3: 105,893,631 (GRCm39) |
E468G |
probably benign |
Het |
| Pax6 |
G |
A |
2: 105,526,795 (GRCm39) |
E234K |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,609,810 (GRCm39) |
E3138G |
probably damaging |
Het |
| Prmt6 |
T |
C |
3: 110,158,121 (GRCm39) |
D56G |
possibly damaging |
Het |
| Ptprt |
A |
G |
2: 161,389,307 (GRCm39) |
V1261A |
probably damaging |
Het |
| Qtrt2 |
A |
G |
16: 43,701,435 (GRCm39) |
S42P |
probably damaging |
Het |
| Rab9b |
C |
T |
X: 135,762,259 (GRCm39) |
R47Q |
possibly damaging |
Het |
| Rpgrip1 |
A |
G |
14: 52,384,710 (GRCm39) |
E606G |
probably damaging |
Het |
| Setx |
C |
T |
2: 29,035,072 (GRCm39) |
S519L |
possibly damaging |
Het |
| Slc15a2 |
A |
T |
16: 36,592,490 (GRCm39) |
C191* |
probably null |
Het |
| Snrk |
T |
C |
9: 121,966,069 (GRCm39) |
|
probably benign |
Het |
| St6galnac1 |
T |
C |
11: 116,657,109 (GRCm39) |
D422G |
probably damaging |
Het |
| Stag1 |
C |
T |
9: 100,620,035 (GRCm39) |
T46I |
probably damaging |
Het |
| Tagln |
T |
C |
9: 45,843,008 (GRCm39) |
I18V |
probably benign |
Het |
| Tasor2 |
T |
C |
13: 3,625,292 (GRCm39) |
T1553A |
probably benign |
Het |
| Tbx18 |
C |
A |
9: 87,611,689 (GRCm39) |
A114S |
probably benign |
Het |
| Ttc16 |
T |
C |
2: 32,659,322 (GRCm39) |
D259G |
probably damaging |
Het |
| Vldlr |
A |
G |
19: 27,212,214 (GRCm39) |
D76G |
probably damaging |
Het |
| Vmn2r24 |
G |
T |
6: 123,764,412 (GRCm39) |
D430Y |
probably benign |
Het |
| Xlr3a |
T |
C |
X: 72,138,644 (GRCm39) |
E5G |
probably damaging |
Het |
|
| Other mutations in Or4a79 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01481:Or4a79
|
APN |
2 |
89,551,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4151001:Or4a79
|
UTSW |
2 |
89,552,237 (GRCm39) |
missense |
probably benign |
0.42 |
|
R1838:Or4a79
|
UTSW |
2 |
89,552,053 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1866:Or4a79
|
UTSW |
2 |
89,551,550 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4577:Or4a79
|
UTSW |
2 |
89,552,387 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4675:Or4a79
|
UTSW |
2 |
89,551,838 (GRCm39) |
missense |
probably benign |
|
|
R4799:Or4a79
|
UTSW |
2 |
89,551,706 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4845:Or4a79
|
UTSW |
2 |
89,552,120 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5076:Or4a79
|
UTSW |
2 |
89,551,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Or4a79
|
UTSW |
2 |
89,551,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5384:Or4a79
|
UTSW |
2 |
89,551,649 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5418:Or4a79
|
UTSW |
2 |
89,552,343 (GRCm39) |
missense |
probably benign |
|
|
R5763:Or4a79
|
UTSW |
2 |
89,552,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6997:Or4a79
|
UTSW |
2 |
89,552,269 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7013:Or4a79
|
UTSW |
2 |
89,551,730 (GRCm39) |
missense |
probably benign |
0.20 |
|
R7500:Or4a79
|
UTSW |
2 |
89,552,281 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7608:Or4a79
|
UTSW |
2 |
89,551,642 (GRCm39) |
missense |
probably benign |
0.42 |
|
R7671:Or4a79
|
UTSW |
2 |
89,551,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7781:Or4a79
|
UTSW |
2 |
89,551,879 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7841:Or4a79
|
UTSW |
2 |
89,552,309 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7999:Or4a79
|
UTSW |
2 |
89,552,344 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8147:Or4a79
|
UTSW |
2 |
89,552,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8882:Or4a79
|
UTSW |
2 |
89,551,740 (GRCm39) |
nonsense |
probably null |
|
|
X0064:Or4a79
|
UTSW |
2 |
89,551,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCACAGCTTTGCCATAC -3'
(R):5'- TGCACATGCTCTGCTTCAAG -3'
Sequencing Primer
(F):5'- GCTTTGCCATACAAATTTTAATCTCC -3'
(R):5'- GCACATGCTCTGCTTCAAGTTATC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation