Incidental Mutation 'R2313:Or4c122'
| ID |
245367 |
| 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 # |
R2313 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
89079065-89080036 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 89079285 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 239
(C239F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150633
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099789]
[ENSMUST00000190757]
[ENSMUST00000215447]
[ENSMUST00000216392]
|
| AlphaFold |
Q8VGM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099789
AA Change: C251F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097377
Gene: ENSMUSG00000101480
AA Change: C251F
| 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 damaging
Transcript: ENSMUST00000190757
AA Change: C251F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139920
Gene: ENSMUSG00000099486
AA Change: C251F
| 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 damaging
Transcript: ENSMUST00000215447
AA Change: C239F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216392
AA Change: C239F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.1%
|
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
T |
A |
6: 116,390,822 (GRCm39) |
D443V |
probably benign |
Het |
| Ankrd53 |
A |
T |
6: 83,740,662 (GRCm39) |
H95L |
probably damaging |
Het |
| Chrnb3 |
A |
G |
8: 27,883,809 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cln5 |
C |
T |
14: 103,309,182 (GRCm39) |
R79* |
probably null |
Het |
| Cntn3 |
C |
A |
6: 102,180,889 (GRCm39) |
V769L |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Il1r1 |
T |
C |
1: 40,352,470 (GRCm39) |
S550P |
probably benign |
Het |
| Klra7 |
T |
A |
6: 130,205,505 (GRCm39) |
T132S |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,782,045 (GRCm39) |
N273S |
probably damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,660 (GRCm39) |
R328S |
probably benign |
Het |
| Mpp2 |
T |
C |
11: 101,952,898 (GRCm39) |
E318G |
possibly damaging |
Het |
| Or4n4 |
G |
A |
14: 50,519,431 (GRCm39) |
S93F |
probably damaging |
Het |
| Pglyrp2 |
A |
T |
17: 32,637,673 (GRCm39) |
D118E |
probably damaging |
Het |
| Ppp4c |
A |
G |
7: 126,386,629 (GRCm39) |
S153P |
probably damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,712,027 (GRCm39) |
S1642G |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Unc13d |
A |
G |
11: 115,954,560 (GRCm39) |
F1016S |
probably damaging |
Het |
| Vwa8 |
C |
G |
14: 79,149,658 (GRCm39) |
T140S |
probably damaging |
Het |
| Wdfy3 |
A |
G |
5: 102,037,150 (GRCm39) |
F2046L |
probably damaging |
Het |
| Zfp788 |
A |
G |
7: 41,298,312 (GRCm39) |
H316R |
probably damaging |
Het |
| Zfp994 |
T |
A |
17: 22,420,266 (GRCm39) |
I228F |
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 |
|
R3083:Or4c122
|
UTSW |
2 |
89,079,345 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R3790:Or4c122
|
UTSW |
2 |
89,079,337 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- TTTTGGGAAGAGACCTTGGC -3'
(R):5'- TTACTGAAGCTTGCCTGCAC -3'
Sequencing Primer
(F):5'- GCATAACAAATGTTCTTACCCACTGG -3'
(R):5'- GAAGCTTGCCTGCACTGACAC -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation