Incidental Mutation 'R8255:Or4k15c'
| ID |
640624 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4k15c
|
| Ensembl Gene |
ENSMUSG00000060523 |
| Gene Name |
olfactory receptor family 4 subfamily K member 15C |
| Synonyms |
MOR246-4, GA_x6K02T2PMLR-5775299-5774334, Olfr726 |
| MMRRC Submission |
067681-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R8255 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
50321171-50322136 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 50321329 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 270
(V270I)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072370]
[ENSMUST00000206834]
|
| AlphaFold |
E9Q8X3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072370
AA Change: V270I
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000072207
Gene: ENSMUSG00000060523
AA Change: V270I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
1.3e-47 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
288 |
5.4e-8 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
7.5e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205951
AA Change: V270I
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206834
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (46/46) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
T |
13: 77,415,850 (GRCm39) |
T648S |
possibly damaging |
Het |
| Abca12 |
T |
A |
1: 71,359,058 (GRCm39) |
I583F |
probably benign |
Het |
| Abca4 |
A |
T |
3: 121,948,926 (GRCm39) |
M1732L |
probably benign |
Het |
| Ank2 |
A |
G |
3: 126,740,398 (GRCm39) |
S1742P |
unknown |
Het |
| Birc6 |
G |
A |
17: 74,969,775 (GRCm39) |
A4273T |
probably damaging |
Het |
| Chd5 |
A |
G |
4: 152,463,880 (GRCm39) |
T1450A |
probably damaging |
Het |
| Dhx32 |
T |
C |
7: 133,339,120 (GRCm39) |
N305S |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,698,589 (GRCm39) |
S2174P |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,161,101 (GRCm39) |
I3210F |
probably benign |
Het |
| Gm12888 |
A |
G |
4: 121,181,994 (GRCm39) |
S33P |
probably damaging |
Het |
| Gpaa1 |
T |
C |
15: 76,217,438 (GRCm39) |
L292P |
probably damaging |
Het |
| Gzmg |
T |
A |
14: 56,395,753 (GRCm39) |
R69W |
probably damaging |
Het |
| Hat1 |
A |
G |
2: 71,239,347 (GRCm39) |
D40G |
probably damaging |
Het |
| Hcrtr2 |
T |
A |
9: 76,140,203 (GRCm39) |
I362F |
probably damaging |
Het |
| Hmmr |
T |
C |
11: 40,598,262 (GRCm39) |
E650G |
probably damaging |
Het |
| Ifi35 |
A |
T |
11: 101,348,608 (GRCm39) |
M180L |
probably benign |
Het |
| Ifi44 |
A |
T |
3: 151,451,619 (GRCm39) |
H162Q |
probably benign |
Het |
| Il1rl2 |
T |
C |
1: 40,404,471 (GRCm39) |
F531L |
probably damaging |
Het |
| Ipcef1 |
T |
G |
10: 6,870,007 (GRCm39) |
K182T |
probably benign |
Het |
| Med27 |
C |
A |
2: 29,414,376 (GRCm39) |
|
probably null |
Het |
| Med31 |
G |
A |
11: 72,106,294 (GRCm39) |
|
probably benign |
Het |
| Moxd1 |
A |
G |
10: 24,099,700 (GRCm39) |
T67A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,985,848 (GRCm39) |
E1266G |
probably damaging |
Het |
| Nkx2-4 |
C |
A |
2: 146,925,924 (GRCm39) |
E313* |
probably null |
Het |
| Nol6 |
G |
T |
4: 41,120,168 (GRCm39) |
R487S |
probably benign |
Het |
| Or2v1 |
C |
A |
11: 49,025,307 (GRCm39) |
A96D |
probably benign |
Het |
| Or2z8 |
T |
A |
8: 72,811,607 (GRCm39) |
F28I |
possibly damaging |
Het |
| Or5p51 |
A |
G |
7: 107,444,368 (GRCm39) |
S191P |
probably damaging |
Het |
| Rnf135 |
A |
G |
11: 80,084,713 (GRCm39) |
D162G |
probably benign |
Het |
| Sdr42e1 |
G |
T |
8: 118,390,502 (GRCm39) |
N46K |
probably benign |
Het |
| Skor2 |
T |
C |
18: 76,946,664 (GRCm39) |
S129P |
unknown |
Het |
| Slc7a11 |
A |
T |
3: 50,382,177 (GRCm39) |
I190N |
probably damaging |
Het |
| Smc5 |
A |
T |
19: 23,186,290 (GRCm39) |
F1056I |
|
Het |
| Son |
A |
T |
16: 91,461,824 (GRCm39) |
Q2243L |
unknown |
Het |
| Sult1a1 |
T |
A |
7: 126,274,280 (GRCm39) |
I101F |
possibly damaging |
Het |
| Sult3a2 |
T |
C |
10: 33,655,747 (GRCm39) |
I77M |
probably benign |
Het |
| Tas1r1 |
A |
T |
4: 152,116,774 (GRCm39) |
S287T |
probably benign |
Het |
| Thbs3 |
A |
C |
3: 89,132,565 (GRCm39) |
T836P |
probably benign |
Het |
| Tlcd3b |
G |
A |
7: 126,423,275 (GRCm39) |
V6M |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf8 |
A |
T |
4: 145,041,653 (GRCm39) |
M1K |
probably null |
Het |
| Vmn1r121 |
T |
G |
7: 20,831,679 (GRCm39) |
N254H |
probably benign |
Het |
| Vmn1r179 |
C |
T |
7: 23,628,436 (GRCm39) |
A209V |
probably benign |
Het |
| Wdr31 |
A |
T |
4: 62,381,634 (GRCm39) |
S66T |
probably benign |
Het |
| Zbtb18 |
T |
C |
1: 177,275,003 (GRCm39) |
V121A |
probably damaging |
Het |
| Zfp30 |
T |
A |
7: 29,488,826 (GRCm39) |
M82K |
probably benign |
Het |
| Zzef1 |
A |
G |
11: 72,765,955 (GRCm39) |
Q1494R |
probably benign |
Het |
|
| Other mutations in Or4k15c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01329:Or4k15c
|
APN |
14 |
50,321,454 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01432:Or4k15c
|
APN |
14 |
50,321,404 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01788:Or4k15c
|
APN |
14 |
50,321,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01957:Or4k15c
|
APN |
14 |
50,321,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02132:Or4k15c
|
APN |
14 |
50,321,943 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0611:Or4k15c
|
UTSW |
14 |
50,321,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0689:Or4k15c
|
UTSW |
14 |
50,321,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1556:Or4k15c
|
UTSW |
14 |
50,321,916 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1710:Or4k15c
|
UTSW |
14 |
50,321,827 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1791:Or4k15c
|
UTSW |
14 |
50,321,499 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1804:Or4k15c
|
UTSW |
14 |
50,321,359 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1853:Or4k15c
|
UTSW |
14 |
50,321,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2034:Or4k15c
|
UTSW |
14 |
50,321,440 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3155:Or4k15c
|
UTSW |
14 |
50,321,982 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3156:Or4k15c
|
UTSW |
14 |
50,321,982 (GRCm39) |
missense |
probably benign |
0.09 |
|
R3939:Or4k15c
|
UTSW |
14 |
50,321,173 (GRCm39) |
makesense |
probably null |
|
|
R4392:Or4k15c
|
UTSW |
14 |
50,322,060 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4533:Or4k15c
|
UTSW |
14 |
50,321,156 (GRCm39) |
splice site |
probably null |
|
|
R4694:Or4k15c
|
UTSW |
14 |
50,321,476 (GRCm39) |
missense |
probably benign |
|
|
R5183:Or4k15c
|
UTSW |
14 |
50,322,003 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5859:Or4k15c
|
UTSW |
14 |
50,321,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6186:Or4k15c
|
UTSW |
14 |
50,321,982 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6357:Or4k15c
|
UTSW |
14 |
50,321,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6771:Or4k15c
|
UTSW |
14 |
50,321,446 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6834:Or4k15c
|
UTSW |
14 |
50,321,685 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6924:Or4k15c
|
UTSW |
14 |
50,321,307 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7953:Or4k15c
|
UTSW |
14 |
50,321,367 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8043:Or4k15c
|
UTSW |
14 |
50,321,367 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R9444:Or4k15c
|
UTSW |
14 |
50,321,869 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCATTTTGGAAGTAGGTTAGACG -3'
(R):5'- TGGAGTTCTCACCCTGAGTAC -3'
Sequencing Primer
(F):5'- ACTTGTCCAGGCTTCAGA -3'
(R):5'- GGAGTTCTCACCCTGAGTACATTTG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation