Incidental Mutation 'R2411:Or14c44'
| ID |
249990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or14c44
|
| Ensembl Gene |
ENSMUSG00000061549 |
| Gene Name |
olfactory receptor family 14 subfamily C member 44 |
| Synonyms |
GA_x6K02T2NHDJ-9695951-9695766, Olfr302, Olfr1531-ps1, Olfr301, GA_x6K02T2NHDJ-9693313-9692378, MOR221-4, MOR221-1P, MOR221-1P, MOR211-8P |
| MMRRC Submission |
040376-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R2411 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
86053057-86062507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86062290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 281
(V281A)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000174362]
|
| AlphaFold |
Q7TS04 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073222
AA Change: V281A
PolyPhen 2
Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000072955
Gene: ENSMUSG00000061549
AA Change: V281A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
70 |
348 |
4.7e-46 |
PFAM |
|
Pfam:7tm_1
|
80 |
330 |
1.5e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174362
AA Change: V240A
PolyPhen 2
Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000133780
Gene: ENSMUSG00000061549
AA Change: V240A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
38 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
39 |
289 |
2e-28 |
PFAM |
|
Pfam:7tm_4
|
137 |
282 |
1.1e-40 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 93.9%
|
| Validation Efficiency |
98% (42/43) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| 4933402D24Rik |
A |
G |
1: 63,795,373 (GRCm39) |
|
probably benign |
Het |
| 9030612E09Rik |
G |
T |
10: 43,050,796 (GRCm39) |
R30L |
possibly damaging |
Het |
| Aadacl2 |
A |
G |
3: 59,924,844 (GRCm39) |
D137G |
possibly damaging |
Het |
| Acad11 |
T |
G |
9: 103,963,222 (GRCm39) |
|
probably benign |
Het |
| Acap1 |
A |
T |
11: 69,776,311 (GRCm39) |
N229K |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,369,898 (GRCm39) |
T666A |
probably damaging |
Het |
| Btbd16 |
T |
C |
7: 130,391,954 (GRCm39) |
F160L |
probably damaging |
Het |
| Clock |
A |
C |
5: 76,379,360 (GRCm39) |
H525Q |
probably benign |
Het |
| Col6a1 |
G |
T |
10: 76,546,922 (GRCm39) |
Q767K |
unknown |
Het |
| Creld1 |
A |
G |
6: 113,466,737 (GRCm39) |
H240R |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,932,755 (GRCm39) |
|
probably null |
Het |
| Fam204a |
A |
T |
19: 60,187,870 (GRCm39) |
*237R |
probably null |
Het |
| Filip1 |
T |
A |
9: 79,805,715 (GRCm39) |
N13I |
probably damaging |
Het |
| Gm14295 |
G |
T |
2: 176,499,206 (GRCm39) |
A19S |
probably benign |
Het |
| Hddc3 |
A |
T |
7: 79,993,341 (GRCm39) |
Q56L |
probably damaging |
Het |
| Hes6 |
A |
C |
1: 91,340,986 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
A |
G |
3: 95,487,326 (GRCm39) |
D270G |
probably benign |
Het |
| Ifitm1 |
A |
G |
7: 140,549,711 (GRCm39) |
|
probably null |
Het |
| Igbp1b |
A |
C |
6: 138,634,871 (GRCm39) |
V191G |
probably damaging |
Het |
| Impg2 |
T |
A |
16: 56,072,517 (GRCm39) |
N316K |
probably damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,914,453 (GRCm39) |
Y566C |
probably damaging |
Het |
| Map4k4 |
A |
G |
1: 40,046,656 (GRCm39) |
D775G |
probably damaging |
Het |
| Mtmr10 |
A |
T |
7: 63,947,245 (GRCm39) |
K53N |
probably damaging |
Het |
| Mybpc2 |
G |
A |
7: 44,155,662 (GRCm39) |
R864W |
probably damaging |
Het |
| Nckap1l |
C |
A |
15: 103,391,995 (GRCm39) |
P810Q |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or1ad1 |
A |
G |
11: 50,875,758 (GRCm39) |
T77A |
probably damaging |
Het |
| Or4a27 |
C |
T |
2: 88,559,741 (GRCm39) |
M67I |
probably benign |
Het |
| Ppp2r3c |
T |
C |
12: 55,345,269 (GRCm39) |
K73R |
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,498,780 (GRCm39) |
F1311Y |
probably damaging |
Het |
| Ror2 |
G |
A |
13: 53,284,980 (GRCm39) |
P144L |
possibly damaging |
Het |
| Setd2 |
A |
G |
9: 110,379,497 (GRCm39) |
E1104G |
possibly damaging |
Het |
| St14 |
G |
A |
9: 31,019,530 (GRCm39) |
T97I |
probably benign |
Het |
| Stag3 |
A |
G |
5: 138,281,290 (GRCm39) |
|
probably benign |
Het |
| Sytl3 |
T |
C |
17: 7,003,892 (GRCm39) |
S326P |
probably damaging |
Het |
| Tor1b |
G |
T |
2: 30,845,824 (GRCm39) |
S167I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,568,359 (GRCm39) |
E27511D |
probably damaging |
Het |
| Uso1 |
T |
A |
5: 92,306,258 (GRCm39) |
|
probably benign |
Het |
| Vmn1r10 |
G |
T |
6: 57,091,124 (GRCm39) |
V239F |
probably benign |
Het |
| Vps35l |
G |
C |
7: 118,391,818 (GRCm39) |
A410P |
probably damaging |
Het |
| Zfp160 |
C |
T |
17: 21,246,007 (GRCm39) |
R186C |
possibly damaging |
Het |
| Zfp869 |
A |
G |
8: 70,159,179 (GRCm39) |
C465R |
probably damaging |
Het |
| Zfp957 |
T |
C |
14: 79,451,782 (GRCm39) |
K6E |
unknown |
Het |
|
| Other mutations in Or14c44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01015:Or14c44
|
APN |
7 |
86,061,998 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01459:Or14c44
|
APN |
7 |
86,061,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01538:Or14c44
|
APN |
7 |
86,062,167 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL01547:Or14c44
|
APN |
7 |
86,062,079 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0918:Or14c44
|
UTSW |
7 |
86,062,403 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1559:Or14c44
|
UTSW |
7 |
86,061,575 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1651:Or14c44
|
UTSW |
7 |
86,057,078 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R3732:Or14c44
|
UTSW |
7 |
86,061,841 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3832:Or14c44
|
UTSW |
7 |
86,062,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5175:Or14c44
|
UTSW |
7 |
86,062,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5372:Or14c44
|
UTSW |
7 |
86,062,176 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5413:Or14c44
|
UTSW |
7 |
86,061,675 (GRCm39) |
missense |
probably benign |
|
|
R5520:Or14c44
|
UTSW |
7 |
86,062,064 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5579:Or14c44
|
UTSW |
7 |
86,061,934 (GRCm39) |
nonsense |
probably null |
|
|
R6037:Or14c44
|
UTSW |
7 |
86,062,478 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6037:Or14c44
|
UTSW |
7 |
86,062,478 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7251:Or14c44
|
UTSW |
7 |
86,062,209 (GRCm39) |
missense |
probably benign |
|
|
R7340:Or14c44
|
UTSW |
7 |
86,061,957 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7860:Or14c44
|
UTSW |
7 |
86,057,119 (GRCm39) |
start gained |
probably benign |
|
|
R8305:Or14c44
|
UTSW |
7 |
86,061,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8338:Or14c44
|
UTSW |
7 |
86,061,702 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8487:Or14c44
|
UTSW |
7 |
86,061,647 (GRCm39) |
missense |
probably benign |
0.34 |
|
R8799:Or14c44
|
UTSW |
7 |
86,061,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9342:Or14c44
|
UTSW |
7 |
86,062,430 (GRCm39) |
missense |
probably benign |
0.37 |
|
Z1176:Or14c44
|
UTSW |
7 |
86,061,906 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGCTGAGGCTTTCTTGC -3'
(R):5'- GGAATGTGTGAGTATACGTGCAC -3'
Sequencing Primer
(F):5'- GCTGAGGCTTTCTTGCTCTGATAC -3'
(R):5'- AGTTCTATTCCTCTAGAGAACCCTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation