Incidental Mutation 'R3790:Or4c122'
| ID |
272474 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c122
|
| Ensembl Gene |
ENSMUSG00000099486 |
| Gene Name |
olfactory receptor family 4 subfamily C member 122 |
| Synonyms |
GA_x6K02T2Q125-50696209-50695274, Olfr1228, MOR233-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R3790 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89079065-89080036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 89079337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 234
(F234L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099789]
[ENSMUST00000190757]
[ENSMUST00000215447]
[ENSMUST00000216392]
|
| AlphaFold |
Q8VGM9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099789
AA Change: F234L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000097377
Gene: ENSMUSG00000101480
AA Change: F234L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
41 |
315 |
4.2e-48 |
PFAM |
|
Pfam:7tm_1
|
51 |
298 |
4.1e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190757
AA Change: F234L
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000139920
Gene: ENSMUSG00000099486
AA Change: F234L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
51 |
298 |
2.6e-27 |
PFAM |
|
Pfam:7tm_4
|
150 |
292 |
2.9e-38 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215447
AA Change: F222L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216392
AA Change: F222L
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| Meta Mutation Damage Score |
0.0898 |
| 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 |
| Or4k5 |
A |
C |
14: 50,386,026 (GRCm39) |
F102V |
possibly damaging |
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 Or4c122 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01804:Or4c122
|
APN |
2 |
89,079,566 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02588:Or4c122
|
APN |
2 |
89,080,042 (GRCm39) |
splice site |
probably benign |
|
|
R0384:Or4c122
|
UTSW |
2 |
89,079,414 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0600:Or4c122
|
UTSW |
2 |
89,079,742 (GRCm39) |
nonsense |
probably null |
|
|
R0613:Or4c122
|
UTSW |
2 |
89,079,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Or4c122
|
UTSW |
2 |
89,080,016 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2115:Or4c122
|
UTSW |
2 |
89,079,874 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2313:Or4c122
|
UTSW |
2 |
89,079,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3083:Or4c122
|
UTSW |
2 |
89,079,345 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3948:Or4c122
|
UTSW |
2 |
89,079,336 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4373:Or4c122
|
UTSW |
2 |
89,079,589 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4376:Or4c122
|
UTSW |
2 |
89,079,589 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4825:Or4c122
|
UTSW |
2 |
89,079,034 (GRCm39) |
splice site |
probably null |
|
|
R5022:Or4c122
|
UTSW |
2 |
89,079,761 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5141:Or4c122
|
UTSW |
2 |
89,079,473 (GRCm39) |
nonsense |
probably null |
|
|
R5313:Or4c122
|
UTSW |
2 |
89,079,721 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6010:Or4c122
|
UTSW |
2 |
89,079,087 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7354:Or4c122
|
UTSW |
2 |
89,079,031 (GRCm39) |
splice site |
probably null |
|
|
R7548:Or4c122
|
UTSW |
2 |
89,079,430 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8014:Or4c122
|
UTSW |
2 |
89,079,343 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8098:Or4c122
|
UTSW |
2 |
89,079,652 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8280:Or4c122
|
UTSW |
2 |
89,079,234 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8554:Or4c122
|
UTSW |
2 |
89,079,595 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8678:Or4c122
|
UTSW |
2 |
89,079,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Or4c122
|
UTSW |
2 |
89,079,658 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9039:Or4c122
|
UTSW |
2 |
89,079,545 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATAGGATTCAGAAGTGGTG -3'
(R):5'- ATGACCAGGAGACTCTGTGG -3'
Sequencing Primer
(F):5'- CCATAGGATTCAGAAGTGGTGTTATG -3'
(R):5'- GGACAGGAGGATTCTTACATTCTCTC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation