Incidental Mutation 'R3790:Or4k5'
| ID |
272505 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4k5
|
| Ensembl Gene |
ENSMUSG00000049011 |
| Gene Name |
olfactory receptor family 4 subfamily K member 5 |
| Synonyms |
MOR246-6, GA_x6K02T2PMLR-5839874-5838903, Olfr729 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R3790 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
50385358-50386329 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 50386026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 102
(F102V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149189
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061020]
[ENSMUST00000213163]
[ENSMUST00000215327]
[ENSMUST00000215451]
|
| AlphaFold |
Q8VET4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061020
AA Change: F102V
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000051755
Gene: ENSMUSG00000049011
AA Change: F102V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
304 |
8.3e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
286 |
1.4e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
2.4e-18 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213163
AA Change: F102V
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215327
AA Change: F102V
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215451
AA Change: F102V
PolyPhen 2
Score 0.508 (Sensitivity: 0.88; Specificity: 0.90)
|
| Meta Mutation Damage Score |
0.1168 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (47/48) |
| 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 |
|---|
| Acat3 |
G |
A |
17: 13,147,460 (GRCm39) |
Q186* |
probably null |
Het |
| Alk |
A |
G |
17: 72,910,427 (GRCm39) |
L93P |
possibly damaging |
Het |
| Ankrd24 |
C |
T |
10: 81,478,513 (GRCm39) |
|
probably benign |
Het |
| Anks6 |
A |
T |
4: 47,049,212 (GRCm39) |
V231E |
probably damaging |
Het |
| Ap5z1 |
C |
T |
5: 142,456,168 (GRCm39) |
S329L |
probably benign |
Het |
| Asic4 |
C |
A |
1: 75,446,485 (GRCm39) |
|
probably benign |
Het |
| Cemip2 |
T |
G |
19: 21,784,816 (GRCm39) |
I433S |
probably damaging |
Het |
| Cers4 |
C |
A |
8: 4,568,285 (GRCm39) |
Q113K |
possibly damaging |
Het |
| Ces3b |
A |
T |
8: 105,813,520 (GRCm39) |
I264F |
possibly damaging |
Het |
| Cops3 |
T |
C |
11: 59,718,797 (GRCm39) |
M166V |
probably benign |
Het |
| Corin |
T |
C |
5: 72,592,641 (GRCm39) |
Q184R |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 31,073,872 (GRCm39) |
R4514H |
probably damaging |
Het |
| Drosha |
T |
A |
15: 12,912,623 (GRCm39) |
Y1080* |
probably null |
Het |
| Gm53 |
T |
C |
11: 96,142,477 (GRCm39) |
|
noncoding transcript |
Het |
| Hmcn1 |
A |
G |
1: 150,498,745 (GRCm39) |
S4045P |
probably benign |
Het |
| Kif22 |
A |
G |
7: 126,628,668 (GRCm39) |
L480P |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,648,111 (GRCm39) |
|
probably benign |
Het |
| Lnpk |
A |
T |
2: 74,352,607 (GRCm39) |
S358R |
probably benign |
Het |
| Lnx1 |
A |
G |
5: 74,789,027 (GRCm39) |
|
probably benign |
Het |
| Lrsam1 |
T |
C |
2: 32,848,171 (GRCm39) |
E43G |
probably null |
Het |
| Mug1 |
G |
A |
6: 121,861,587 (GRCm39) |
V1350I |
probably benign |
Het |
| Nbea |
T |
A |
3: 55,912,450 (GRCm39) |
E1112D |
probably benign |
Het |
| Nepn |
T |
A |
10: 52,276,626 (GRCm39) |
L60I |
probably damaging |
Het |
| Oas1e |
T |
C |
5: 120,933,475 (GRCm39) |
E30G |
probably damaging |
Het |
| Or4c122 |
A |
G |
2: 89,079,337 (GRCm39) |
F234L |
probably benign |
Het |
| Pou2f1 |
G |
C |
1: 165,722,538 (GRCm39) |
P349R |
probably damaging |
Het |
| Prmt8 |
A |
T |
6: 127,688,110 (GRCm39) |
I236N |
probably damaging |
Het |
| Psg23 |
C |
A |
7: 18,346,126 (GRCm39) |
V190L |
probably benign |
Het |
| Psg29 |
A |
G |
7: 16,938,950 (GRCm39) |
K75E |
possibly damaging |
Het |
| Ranbp17 |
GCCTGGATACTGACC |
GCC |
11: 33,169,203 (GRCm39) |
|
probably benign |
Het |
| Rgs4 |
A |
G |
1: 169,571,991 (GRCm39) |
S103P |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,828,747 (GRCm39) |
Y1144C |
probably damaging |
Het |
| Slc16a14 |
T |
C |
1: 84,907,001 (GRCm39) |
|
probably benign |
Het |
| Snrnp35 |
T |
A |
5: 124,628,248 (GRCm39) |
D20E |
probably damaging |
Het |
| Syce1l |
C |
A |
8: 114,369,897 (GRCm39) |
A10E |
possibly damaging |
Het |
| Tdp1 |
A |
G |
12: 99,858,011 (GRCm39) |
|
probably benign |
Het |
| Tmem212 |
T |
C |
3: 27,940,594 (GRCm39) |
|
probably null |
Het |
| Tomm20l |
C |
T |
12: 71,158,516 (GRCm39) |
A58V |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,568,471 (GRCm39) |
C27474F |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,804,552 (GRCm39) |
V240A |
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,218,310 (GRCm39) |
V48A |
probably benign |
Het |
| Vmn2r1 |
T |
C |
3: 63,994,185 (GRCm39) |
|
probably null |
Het |
| Washc2 |
A |
G |
6: 116,224,933 (GRCm39) |
|
probably benign |
Het |
| Zfp943 |
A |
G |
17: 22,211,403 (GRCm39) |
D163G |
possibly damaging |
Het |
| Zmym5 |
T |
C |
14: 57,031,230 (GRCm39) |
Y626C |
probably damaging |
Het |
|
| Other mutations in Or4k5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01802:Or4k5
|
APN |
14 |
50,386,173 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02736:Or4k5
|
APN |
14 |
50,385,881 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02798:Or4k5
|
APN |
14 |
50,385,835 (GRCm39) |
missense |
probably benign |
|
|
IGL03267:Or4k5
|
APN |
14 |
50,386,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0082:Or4k5
|
UTSW |
14 |
50,385,512 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0225:Or4k5
|
UTSW |
14 |
50,386,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0503:Or4k5
|
UTSW |
14 |
50,385,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1022:Or4k5
|
UTSW |
14 |
50,385,384 (GRCm39) |
missense |
probably benign |
|
|
R1024:Or4k5
|
UTSW |
14 |
50,385,384 (GRCm39) |
missense |
probably benign |
|
|
R1424:Or4k5
|
UTSW |
14 |
50,385,922 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1440:Or4k5
|
UTSW |
14 |
50,385,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1479:Or4k5
|
UTSW |
14 |
50,386,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1583:Or4k5
|
UTSW |
14 |
50,386,231 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1817:Or4k5
|
UTSW |
14 |
50,385,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2155:Or4k5
|
UTSW |
14 |
50,386,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2282:Or4k5
|
UTSW |
14 |
50,385,776 (GRCm39) |
missense |
probably benign |
|
|
R2926:Or4k5
|
UTSW |
14 |
50,385,893 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4073:Or4k5
|
UTSW |
14 |
50,385,500 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5945:Or4k5
|
UTSW |
14 |
50,386,220 (GRCm39) |
missense |
probably benign |
|
|
R6714:Or4k5
|
UTSW |
14 |
50,385,671 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7112:Or4k5
|
UTSW |
14 |
50,385,392 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7157:Or4k5
|
UTSW |
14 |
50,385,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7511:Or4k5
|
UTSW |
14 |
50,385,713 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7815:Or4k5
|
UTSW |
14 |
50,386,253 (GRCm39) |
missense |
probably benign |
0.36 |
|
R8833:Or4k5
|
UTSW |
14 |
50,385,823 (GRCm39) |
nonsense |
probably null |
|
|
R9486:Or4k5
|
UTSW |
14 |
50,385,672 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9608:Or4k5
|
UTSW |
14 |
50,386,055 (GRCm39) |
missense |
probably benign |
0.35 |
|
Z1177:Or4k5
|
UTSW |
14 |
50,386,308 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAATGTGTGTACCAAGCCC -3'
(R):5'- TCTCGGGAACTTCAGATTTTCTAC -3'
Sequencing Primer
(F):5'- GTGTGTACCAAGCCCACAGC -3'
(R):5'- GGAAACCTTCTCATCATCATAGCTG -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation