Incidental Mutation 'R2310:Or4a73'
| ID |
244726 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4a73
|
| Ensembl Gene |
ENSMUSG00000111715 |
| Gene Name |
olfactory receptor family 4 subfamily A member 73 |
| Synonyms |
GA_x6K02T2Q125-51034790-51033846, Olfr1246, MOR231-9 |
| MMRRC Submission |
040309-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.156)
|
| Stock # |
R2310 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89420413-89421490 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89420794 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 222
(S222P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000187990]
[ENSMUST00000213221]
[ENSMUST00000217192]
[ENSMUST00000217254]
|
| AlphaFold |
Q7TQZ6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099772
AA Change: S222P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097360
Gene: ENSMUSG00000075082
AA Change: S222P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
9.5e-47 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
4.2e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000187990
AA Change: S222P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140066
Gene: ENSMUSG00000111715
AA Change: S222P
| 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 |
probably damaging
Transcript: ENSMUST00000191053
AA Change: S222P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000140823
Gene: ENSMUSG00000100828
AA Change: S222P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
285 |
1.9e-29 |
PFAM |
|
Pfam:7tm_4
|
137 |
278 |
1.1e-38 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213221
AA Change: S222P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217192
AA Change: S222P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217254
AA Change: S222P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.4336 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.5%
|
| Validation Efficiency |
100% (39/39) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef10l |
A |
C |
4: 140,320,429 (GRCm39) |
C136W |
probably damaging |
Het |
| Ascc3 |
T |
A |
10: 50,624,988 (GRCm39) |
H1625Q |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cpa3 |
C |
T |
3: 20,281,387 (GRCm39) |
C173Y |
probably damaging |
Het |
| Cyp2c65 |
A |
G |
19: 39,081,826 (GRCm39) |
T451A |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Efhd1 |
T |
C |
1: 87,192,350 (GRCm39) |
L60P |
probably damaging |
Het |
| Flrt2 |
A |
G |
12: 95,746,864 (GRCm39) |
T401A |
probably benign |
Het |
| Frmd4a |
GAA |
G |
2: 4,577,210 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
A |
G |
11: 83,318,265 (GRCm39) |
V148A |
possibly damaging |
Het |
| Golga5 |
A |
G |
12: 102,458,420 (GRCm39) |
E621G |
probably damaging |
Het |
| Gsap |
A |
T |
5: 21,401,088 (GRCm39) |
R74* |
probably null |
Het |
| Intu |
C |
T |
3: 40,608,243 (GRCm39) |
A85V |
probably benign |
Het |
| Kansl3 |
T |
A |
1: 36,382,445 (GRCm39) |
I860F |
probably damaging |
Het |
| Kif23 |
A |
G |
9: 61,831,426 (GRCm39) |
S715P |
probably damaging |
Het |
| Map3k8 |
A |
T |
18: 4,349,001 (GRCm39) |
C106S |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,564,433 (GRCm39) |
E934G |
probably damaging |
Het |
| Mrpl19 |
A |
T |
6: 81,941,054 (GRCm39) |
|
probably null |
Het |
| Msl3l2 |
C |
A |
10: 55,991,421 (GRCm39) |
R49S |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,217,444 (GRCm39) |
I2410F |
possibly damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,836 (GRCm38) |
V82A |
probably benign |
Het |
| Pip5k1c |
T |
G |
10: 81,142,142 (GRCm39) |
S117R |
probably damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,690,841 (GRCm39) |
S561P |
probably damaging |
Het |
| Pramel13 |
A |
T |
4: 144,119,475 (GRCm39) |
|
probably null |
Het |
| Rassf5 |
A |
T |
1: 131,172,477 (GRCm39) |
W131R |
probably damaging |
Het |
| Shq1 |
C |
T |
6: 100,607,963 (GRCm39) |
W316* |
probably null |
Het |
| Slc45a4 |
A |
G |
15: 73,461,409 (GRCm39) |
Y87H |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,768,963 (GRCm39) |
D32G |
probably benign |
Het |
| Tjp1 |
C |
T |
7: 64,979,490 (GRCm39) |
R345Q |
possibly damaging |
Het |
| Tnrc18 |
C |
G |
5: 142,774,308 (GRCm39) |
V174L |
probably damaging |
Het |
| Trmt6 |
G |
T |
2: 132,650,832 (GRCm39) |
P259T |
probably damaging |
Het |
| Ubap1 |
T |
A |
4: 41,379,341 (GRCm39) |
V185E |
possibly damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,822,096 (GRCm39) |
V258E |
probably damaging |
Het |
| Wnk2 |
T |
C |
13: 49,204,053 (GRCm39) |
T1979A |
probably damaging |
Het |
| Xirp2 |
A |
G |
2: 67,356,591 (GRCm39) |
D3784G |
probably benign |
Het |
| Zfp119a |
A |
T |
17: 56,172,440 (GRCm39) |
Y468N |
probably benign |
Het |
|
| Other mutations in Or4a73 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02140:Or4a73
|
APN |
2 |
89,420,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02184:Or4a73
|
APN |
2 |
89,420,637 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03383:Or4a73
|
APN |
2 |
89,420,656 (GRCm39) |
missense |
probably benign |
0.24 |
|
PIT4283001:Or4a73
|
UTSW |
2 |
89,420,572 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0453:Or4a73
|
UTSW |
2 |
89,421,095 (GRCm39) |
nonsense |
probably null |
|
|
R1614:Or4a73
|
UTSW |
2 |
89,421,040 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2436:Or4a73
|
UTSW |
2 |
89,421,117 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3683:Or4a73
|
UTSW |
2 |
89,421,099 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3685:Or4a73
|
UTSW |
2 |
89,421,099 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4037:Or4a73
|
UTSW |
2 |
89,421,379 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5219:Or4a73
|
UTSW |
2 |
89,421,046 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5350:Or4a73
|
UTSW |
2 |
89,421,432 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5383:Or4a73
|
UTSW |
2 |
89,421,457 (GRCm39) |
start codon destroyed |
probably null |
0.91 |
|
R5639:Or4a73
|
UTSW |
2 |
89,421,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5927:Or4a73
|
UTSW |
2 |
89,421,444 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6056:Or4a73
|
UTSW |
2 |
89,421,445 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6177:Or4a73
|
UTSW |
2 |
89,420,661 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7351:Or4a73
|
UTSW |
2 |
89,420,857 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7496:Or4a73
|
UTSW |
2 |
89,421,040 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7583:Or4a73
|
UTSW |
2 |
89,421,095 (GRCm39) |
nonsense |
probably null |
|
|
R7973:Or4a73
|
UTSW |
2 |
89,421,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8770:Or4a73
|
UTSW |
2 |
89,421,171 (GRCm39) |
missense |
probably benign |
0.16 |
|
R8813:Or4a73
|
UTSW |
2 |
89,420,730 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8821:Or4a73
|
UTSW |
2 |
89,420,880 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9037:Or4a73
|
UTSW |
2 |
89,421,051 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9062:Or4a73
|
UTSW |
2 |
89,420,923 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9262:Or4a73
|
UTSW |
2 |
89,421,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9554:Or4a73
|
UTSW |
2 |
89,420,710 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9623:Or4a73
|
UTSW |
2 |
89,421,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCATAGTTAACAGTGTACACCAGAG -3'
(R):5'- GGTTGGAGGTTTTACACACTCC -3'
Sequencing Primer
(F):5'- CAGTGTACACCAGAGTTTTTGC -3'
(R):5'- GGAGGTTTTACACACTCCATGATTC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation