Incidental Mutation 'R6771:Or4k15c'
| ID |
532182 |
| 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 |
044887-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.060)
|
| Stock # |
R6771 (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 A
at 50321446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 231
(A231S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149373
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072370]
[ENSMUST00000206834]
[ENSMUST00000213345]
[ENSMUST00000215105]
[ENSMUST00000215278]
[ENSMUST00000217025]
[ENSMUST00000217319]
[ENSMUST00000217422]
|
| AlphaFold |
E9Q8X3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072370
AA Change: A231S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000072207
Gene: ENSMUSG00000060523
AA Change: A231S
| 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 |
probably damaging
Transcript: ENSMUST00000206834
AA Change: A231S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213345
AA Change: A231S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215105
AA Change: A231S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215278
AA Change: A231S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217025
AA Change: A231S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217319
AA Change: A231S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217422
AA Change: A231S
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.3%
|
| Validation Efficiency |
95% (37/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd8 |
G |
T |
8: 71,914,105 (GRCm39) |
H174Q |
probably damaging |
Het |
| Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
| Apol8 |
A |
T |
15: 77,637,258 (GRCm39) |
|
probably null |
Het |
| Arvcf |
A |
G |
16: 18,222,614 (GRCm39) |
T792A |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,094,079 (GRCm39) |
|
probably null |
Het |
| Atp9a |
A |
T |
2: 168,516,820 (GRCm39) |
Y340N |
probably damaging |
Het |
| C1rb |
T |
G |
6: 124,554,364 (GRCm39) |
S382A |
probably benign |
Het |
| Clmn |
A |
G |
12: 104,740,041 (GRCm39) |
V962A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,450,454 (GRCm39) |
D255E |
probably damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,450,269 (GRCm39) |
R317L |
probably damaging |
Het |
| Cyb5a |
T |
A |
18: 84,889,755 (GRCm39) |
H61Q |
probably damaging |
Het |
| Dipk1b |
A |
G |
2: 26,524,875 (GRCm39) |
R92G |
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,323,808 (GRCm39) |
I1192N |
probably damaging |
Het |
| Flg |
T |
C |
3: 93,195,630 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,140,366 (GRCm39) |
K801E |
probably damaging |
Het |
| Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
| Ighv2-9 |
T |
G |
12: 113,842,807 (GRCm39) |
S87R |
probably damaging |
Het |
| Kdm4b |
C |
T |
17: 56,658,754 (GRCm39) |
A33V |
possibly damaging |
Het |
| Klhl5 |
T |
A |
5: 65,321,995 (GRCm39) |
Y534N |
probably damaging |
Het |
| Marchf8 |
T |
C |
6: 116,379,004 (GRCm39) |
S313P |
probably benign |
Het |
| Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
| Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
| Nxpe3 |
C |
A |
16: 55,686,471 (GRCm39) |
G179V |
probably damaging |
Het |
| Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
| Or7g35 |
C |
T |
9: 19,496,675 (GRCm39) |
L281F |
probably benign |
Het |
| Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
| Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
| Pwp2 |
G |
A |
10: 78,018,222 (GRCm39) |
|
probably null |
Het |
| Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
| Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
| Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
| Scfd2 |
T |
C |
5: 74,692,117 (GRCm39) |
H55R |
probably benign |
Het |
| Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
| Sp110 |
C |
T |
1: 85,520,000 (GRCm39) |
|
probably null |
Het |
| Syde2 |
G |
A |
3: 145,704,803 (GRCm39) |
G318E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,538,883 (GRCm39) |
D34649V |
possibly damaging |
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 |
|
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 |
|
R8255:Or4k15c
|
UTSW |
14 |
50,321,329 (GRCm39) |
missense |
noncoding transcript |
|
|
R9444:Or4k15c
|
UTSW |
14 |
50,321,869 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTGACATAGCTGCTTTCAC -3'
(R):5'- GGCATTCACTGTTAACTTGCC -3'
Sequencing Primer
(F):5'- ACCTCTTTGTTTCTCAGAGTGTAG -3'
(R):5'- GGTCCTAACCAGGTGGACAG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation