Incidental Mutation 'R5742:Or51a43'
| ID |
445613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51a43
|
| Ensembl Gene |
ENSMUSG00000110012 |
| Gene Name |
olfactory receptor family 51 subfamily A member 43 |
| Synonyms |
Olfr644, MOR13-1, GA_x6K02T2PBJ9-6803062-6802118 |
| MMRRC Submission |
043352-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.240)
|
| Stock # |
R5742 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
103717292-103718236 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 103717412 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 275
(H275Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149600
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077417]
[ENSMUST00000138055]
[ENSMUST00000213184]
[ENSMUST00000213991]
|
| AlphaFold |
Q8VH21 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077417
AA Change: H275Q
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000076633
Gene: ENSMUSG00000110012
AA Change: H275Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
312 |
2e-122 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
37 |
256 |
5.9e-8 |
PFAM |
|
Pfam:7tm_1
|
43 |
294 |
1.4e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138055
|
| SMART Domains |
Protein: ENSMUSP00000139240
Gene: ENSMUSG00000109824
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213184
AA Change: H275Q
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213991
AA Change: H275Q
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
C |
T |
11: 72,056,379 (GRCm39) |
A794T |
possibly damaging |
Het |
| Abca9 |
T |
G |
11: 110,051,243 (GRCm39) |
E151A |
probably damaging |
Het |
| Abcb5 |
A |
G |
12: 118,881,992 (GRCm39) |
V579A |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,057,191 (GRCm39) |
L1858Q |
probably damaging |
Het |
| Cerk |
C |
T |
15: 86,025,773 (GRCm39) |
E223K |
probably damaging |
Het |
| Cntnap2 |
T |
A |
6: 45,897,860 (GRCm39) |
Y179* |
probably null |
Het |
| Ddx60 |
A |
T |
8: 62,401,955 (GRCm39) |
Y277F |
probably benign |
Het |
| Dlgap1 |
T |
G |
17: 71,025,194 (GRCm39) |
V538G |
probably benign |
Het |
| Duox2 |
A |
G |
2: 122,115,402 (GRCm39) |
I1050T |
probably benign |
Het |
| Dusp10 |
A |
G |
1: 183,769,853 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
T |
A |
9: 7,165,762 (GRCm39) |
I500F |
possibly damaging |
Het |
| Erich3 |
T |
A |
3: 154,438,960 (GRCm39) |
C398S |
probably damaging |
Het |
| Fez1 |
G |
A |
9: 36,761,743 (GRCm39) |
|
probably null |
Het |
| Fkbp3 |
A |
C |
12: 65,116,812 (GRCm39) |
H41Q |
probably benign |
Het |
| Fras1 |
C |
G |
5: 96,916,240 (GRCm39) |
Q3425E |
possibly damaging |
Het |
| Fuca1 |
T |
C |
4: 135,650,286 (GRCm39) |
V119A |
probably damaging |
Het |
| Grhl2 |
A |
G |
15: 37,328,616 (GRCm39) |
K414R |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 52,002,335 (GRCm39) |
C200* |
probably null |
Het |
| Hmgcs2 |
A |
G |
3: 98,204,832 (GRCm39) |
N330S |
probably benign |
Het |
| Hspd1 |
A |
G |
1: 55,123,766 (GRCm39) |
V118A |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,056,112 (GRCm39) |
T511A |
probably benign |
Het |
| Kat6b |
T |
C |
14: 21,718,503 (GRCm39) |
S1061P |
probably damaging |
Het |
| Kcnh6 |
T |
C |
11: 105,899,968 (GRCm39) |
V79A |
probably benign |
Het |
| Kel |
C |
T |
6: 41,675,961 (GRCm39) |
G243E |
probably damaging |
Het |
| Klc4 |
C |
T |
17: 46,953,197 (GRCm39) |
R111Q |
probably damaging |
Het |
| Lrp1 |
T |
C |
10: 127,384,216 (GRCm39) |
D3641G |
probably damaging |
Het |
| Map2k1 |
A |
T |
9: 64,101,053 (GRCm39) |
D208E |
probably damaging |
Het |
| Masp1 |
T |
A |
16: 23,273,675 (GRCm39) |
M588L |
probably benign |
Het |
| Mgl2 |
T |
A |
11: 70,027,510 (GRCm39) |
N239K |
probably benign |
Het |
| Mki67 |
G |
A |
7: 135,306,102 (GRCm39) |
T625M |
probably benign |
Het |
| Ndufb5 |
T |
C |
3: 32,801,930 (GRCm39) |
Y112H |
probably damaging |
Het |
| Npr3 |
A |
G |
15: 11,883,494 (GRCm39) |
S312P |
probably damaging |
Het |
| Nuf2 |
A |
T |
1: 169,344,191 (GRCm39) |
I125N |
probably damaging |
Het |
| Obox1 |
G |
A |
7: 15,289,430 (GRCm39) |
G73D |
possibly damaging |
Het |
| Odad4 |
G |
A |
11: 100,436,699 (GRCm39) |
G25R |
possibly damaging |
Het |
| Or8g19 |
T |
A |
9: 39,055,974 (GRCm39) |
F193I |
probably benign |
Het |
| Pcdhb15 |
T |
C |
18: 37,607,820 (GRCm39) |
S351P |
probably damaging |
Het |
| Phc2 |
G |
T |
4: 128,639,661 (GRCm39) |
R121L |
probably damaging |
Het |
| Pla2g2a |
A |
G |
4: 138,560,653 (GRCm39) |
K87E |
probably benign |
Het |
| Plekhh2 |
T |
A |
17: 84,905,408 (GRCm39) |
S1101T |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,144,741 (GRCm39) |
I786T |
probably damaging |
Het |
| Prxl2a |
T |
C |
14: 40,724,460 (GRCm39) |
E57G |
possibly damaging |
Het |
| Ros1 |
A |
T |
10: 52,018,234 (GRCm39) |
|
probably null |
Het |
| Styxl2 |
A |
T |
1: 165,927,023 (GRCm39) |
V863E |
probably benign |
Het |
| Trnt1 |
T |
A |
6: 106,755,878 (GRCm39) |
L311* |
probably null |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,500 (GRCm39) |
L211M |
probably damaging |
Het |
| Zfp12 |
A |
G |
5: 143,230,945 (GRCm39) |
E424G |
probably damaging |
Het |
| Zranb2 |
T |
A |
3: 157,246,340 (GRCm39) |
Y17* |
probably null |
Het |
|
| Other mutations in Or51a43 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01614:Or51a43
|
APN |
7 |
103,717,576 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02937:Or51a43
|
APN |
7 |
103,718,056 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03188:Or51a43
|
APN |
7 |
103,717,945 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
FR4737:Or51a43
|
UTSW |
7 |
103,720,499 (GRCm39) |
start gained |
probably benign |
|
|
R0467:Or51a43
|
UTSW |
7 |
103,717,332 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1310:Or51a43
|
UTSW |
7 |
103,717,805 (GRCm39) |
missense |
probably benign |
|
|
R1457:Or51a43
|
UTSW |
7 |
103,717,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Or51a43
|
UTSW |
7 |
103,717,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Or51a43
|
UTSW |
7 |
103,717,336 (GRCm39) |
missense |
probably null |
1.00 |
|
R2428:Or51a43
|
UTSW |
7 |
103,717,675 (GRCm39) |
nonsense |
probably null |
|
|
R2922:Or51a43
|
UTSW |
7 |
103,717,794 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2923:Or51a43
|
UTSW |
7 |
103,717,794 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3929:Or51a43
|
UTSW |
7 |
103,717,791 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4500:Or51a43
|
UTSW |
7 |
103,717,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5035:Or51a43
|
UTSW |
7 |
103,717,614 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5303:Or51a43
|
UTSW |
7 |
103,718,239 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5464:Or51a43
|
UTSW |
7 |
103,717,674 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5722:Or51a43
|
UTSW |
7 |
103,717,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6874:Or51a43
|
UTSW |
7 |
103,717,396 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6940:Or51a43
|
UTSW |
7 |
103,717,620 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7848:Or51a43
|
UTSW |
7 |
103,717,302 (GRCm39) |
missense |
probably benign |
|
|
R8343:Or51a43
|
UTSW |
7 |
103,717,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8714:Or51a43
|
UTSW |
7 |
103,717,483 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8866:Or51a43
|
UTSW |
7 |
103,718,119 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8909:Or51a43
|
UTSW |
7 |
103,718,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8966:Or51a43
|
UTSW |
7 |
103,718,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGTCAGGGTAAACATCCTC -3'
(R):5'- ATTCGACTGCCTTGTGGTGAC -3'
Sequencing Primer
(F):5'- GGAGTCAGGGTAAACATCCTCTATAC -3'
(R):5'- GGGCTGGATTCTGCACTC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation