Incidental Mutation 'IGL02251:Or4k40'
| ID |
286372 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or4k40
|
| Ensembl Gene |
ENSMUSG00000096703 |
| Gene Name |
olfactory receptor family 4 subfamily K member 40 |
| Synonyms |
MOR248-21, Olfr1286, GA_x6K02T2Q125-72472405-72471488 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
IGL02251
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
111250377-111251294 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 111250657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 213
(L213R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148932
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099617]
[ENSMUST00000184954]
[ENSMUST00000213210]
|
| AlphaFold |
Q7TQY2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099617
AA Change: L213R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000097212
Gene: ENSMUSG00000096703
AA Change: L213R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
305 |
3.4e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
301 |
3.4e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
1.8e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000184954
AA Change: L213R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144852
Gene: ENSMUSG00000096703
AA Change: L213R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
1 |
264 |
7.6e-38 |
PFAM |
|
Pfam:7tm_1
|
5 |
251 |
7.2e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213210
AA Change: L213R
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,626,840 (GRCm39) |
C1406R |
probably damaging |
Het |
| Acp2 |
T |
A |
2: 91,038,678 (GRCm39) |
|
probably null |
Het |
| Antxr2 |
A |
C |
5: 98,125,454 (GRCm39) |
|
probably null |
Het |
| Arhgef11 |
C |
T |
3: 87,590,854 (GRCm39) |
R32C |
probably damaging |
Het |
| Armc6 |
A |
T |
8: 70,677,870 (GRCm39) |
L153* |
probably null |
Het |
| Btnl2 |
G |
T |
17: 34,582,213 (GRCm39) |
G260* |
probably null |
Het |
| Ccnf |
A |
G |
17: 24,445,513 (GRCm39) |
S551P |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,882,382 (GRCm39) |
S37P |
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,909,850 (GRCm39) |
T752S |
probably damaging |
Het |
| Crispld1 |
A |
G |
1: 17,799,064 (GRCm39) |
M62V |
probably benign |
Het |
| Ddr1 |
G |
A |
17: 35,994,372 (GRCm39) |
A801V |
probably damaging |
Het |
| Dner |
G |
T |
1: 84,361,747 (GRCm39) |
Q621K |
probably damaging |
Het |
| Dph6 |
A |
G |
2: 114,366,004 (GRCm39) |
|
probably null |
Het |
| Dpp3 |
T |
G |
19: 4,968,343 (GRCm39) |
H243P |
probably benign |
Het |
| Eif3j2 |
T |
A |
18: 43,610,431 (GRCm39) |
K127N |
probably damaging |
Het |
| Esrp1 |
G |
A |
4: 11,361,202 (GRCm39) |
R315C |
probably damaging |
Het |
| Gm973 |
A |
C |
1: 59,621,582 (GRCm39) |
H574P |
probably benign |
Het |
| Gprasp1 |
G |
A |
X: 134,701,288 (GRCm39) |
V494I |
probably benign |
Het |
| Hbb-bh1 |
T |
A |
7: 103,492,017 (GRCm39) |
K66* |
probably null |
Het |
| Hoxb9 |
T |
A |
11: 96,165,651 (GRCm39) |
M240K |
probably damaging |
Het |
| Irf2 |
T |
C |
8: 47,260,788 (GRCm39) |
|
probably null |
Het |
| Lgi4 |
A |
G |
7: 30,766,688 (GRCm39) |
|
probably null |
Het |
| Mylk3 |
C |
T |
8: 86,081,805 (GRCm39) |
V328M |
probably benign |
Het |
| Nf2 |
T |
C |
11: 4,798,873 (GRCm39) |
E38G |
probably null |
Het |
| Or51l14 |
A |
T |
7: 103,100,978 (GRCm39) |
K145* |
probably null |
Het |
| Pdpk1 |
A |
G |
17: 24,298,612 (GRCm39) |
F346L |
probably damaging |
Het |
| Prex1 |
T |
C |
2: 166,419,806 (GRCm39) |
Y1120C |
probably damaging |
Het |
| Rab3gap1 |
A |
G |
1: 127,865,237 (GRCm39) |
T742A |
probably benign |
Het |
| Scai |
A |
T |
2: 38,989,429 (GRCm39) |
D401E |
probably benign |
Het |
| Scd1 |
T |
C |
19: 44,386,533 (GRCm39) |
H298R |
probably damaging |
Het |
| Shld2 |
T |
C |
14: 33,990,235 (GRCm39) |
R224G |
probably benign |
Het |
| Slc45a1 |
A |
G |
4: 150,723,176 (GRCm39) |
|
probably benign |
Het |
| Smim10l1 |
G |
T |
6: 133,082,471 (GRCm39) |
R6L |
probably damaging |
Het |
| Spag5 |
T |
G |
11: 78,210,860 (GRCm39) |
F921C |
probably damaging |
Het |
| Sun1 |
T |
C |
5: 139,227,186 (GRCm39) |
S667P |
probably damaging |
Het |
| Tas2r124 |
A |
G |
6: 132,732,524 (GRCm39) |
I278V |
probably benign |
Het |
| Thbs1 |
G |
A |
2: 117,943,999 (GRCm39) |
D206N |
probably benign |
Het |
| Trim37 |
T |
A |
11: 87,058,256 (GRCm39) |
|
probably benign |
Het |
| Vcp |
T |
C |
4: 42,988,728 (GRCm39) |
T249A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 20,014,231 (GRCm39) |
N341S |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,399,732 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Or4k40 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01596:Or4k40
|
APN |
2 |
111,251,237 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01953:Or4k40
|
APN |
2 |
111,250,657 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02514:Or4k40
|
APN |
2 |
111,251,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02868:Or4k40
|
APN |
2 |
111,250,838 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
PIT4403001:Or4k40
|
UTSW |
2 |
111,251,165 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0630:Or4k40
|
UTSW |
2 |
111,251,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:Or4k40
|
UTSW |
2 |
111,250,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1712:Or4k40
|
UTSW |
2 |
111,251,003 (GRCm39) |
missense |
probably benign |
0.22 |
|
R2510:Or4k40
|
UTSW |
2 |
111,250,796 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4399:Or4k40
|
UTSW |
2 |
111,251,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4984:Or4k40
|
UTSW |
2 |
111,251,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5186:Or4k40
|
UTSW |
2 |
111,251,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6044:Or4k40
|
UTSW |
2 |
111,250,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6107:Or4k40
|
UTSW |
2 |
111,251,000 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6372:Or4k40
|
UTSW |
2 |
111,251,147 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7230:Or4k40
|
UTSW |
2 |
111,251,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8464:Or4k40
|
UTSW |
2 |
111,251,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8481:Or4k40
|
UTSW |
2 |
111,250,994 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8688:Or4k40
|
UTSW |
2 |
111,250,958 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9072:Or4k40
|
UTSW |
2 |
111,250,705 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9073:Or4k40
|
UTSW |
2 |
111,250,705 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9479:Or4k40
|
UTSW |
2 |
111,251,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9629:Or4k40
|
UTSW |
2 |
111,251,137 (GRCm39) |
missense |
probably benign |
|
|
R9682:Or4k40
|
UTSW |
2 |
111,250,737 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Posted On |
2015-04-16 |
Incidental Mutation