Incidental Mutation 'R5252:Or4c112'
| ID |
399086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c112
|
| Ensembl Gene |
ENSMUSG00000101391 |
| Gene Name |
olfactory receptor family 4 subfamily C member 112 |
| Synonyms |
GA_x6K02T2Q125-50504545-50503631, MOR233-4, Olfr1217 |
| MMRRC Submission |
042823-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R5252 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
88853339-88854443 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88853598 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 250
(F250I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149931
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099799]
[ENSMUST00000213669]
[ENSMUST00000214022]
[ENSMUST00000216000]
[ENSMUST00000216592]
[ENSMUST00000217000]
|
| AlphaFold |
Q8VGG1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099799
AA Change: F250I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000097387
Gene: ENSMUSG00000101391
AA Change: F250I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
5.7e-48 |
PFAM |
|
Pfam:7tm_1
|
39 |
286 |
6.3e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213669
AA Change: F250I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214022
AA Change: F250I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216000
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216592
AA Change: F250I
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217000
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218738
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12b |
G |
T |
11: 69,056,762 (GRCm39) |
R386L |
probably damaging |
Het |
| Ano8 |
A |
T |
8: 71,935,261 (GRCm39) |
Y346N |
probably damaging |
Het |
| Cabp4 |
T |
C |
19: 4,186,067 (GRCm39) |
|
probably benign |
Het |
| Canx |
A |
T |
11: 50,199,621 (GRCm39) |
I148N |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,962,593 (GRCm39) |
V117A |
probably benign |
Het |
| Cdk12 |
A |
T |
11: 98,134,335 (GRCm39) |
N1078Y |
unknown |
Het |
| Cdk7 |
T |
A |
13: 100,866,968 (GRCm39) |
K42* |
probably null |
Het |
| Col6a5 |
T |
C |
9: 105,817,489 (GRCm39) |
D274G |
unknown |
Het |
| Cux1 |
T |
C |
5: 136,337,151 (GRCm39) |
E696G |
probably damaging |
Het |
| Cxxc1 |
C |
T |
18: 74,353,022 (GRCm39) |
A444V |
probably benign |
Het |
| Dll1 |
T |
C |
17: 15,588,951 (GRCm39) |
K575E |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,089,676 (GRCm39) |
F1130S |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,420,295 (GRCm39) |
F140L |
probably damaging |
Het |
| Dysf |
T |
C |
6: 84,163,450 (GRCm39) |
V1625A |
probably damaging |
Het |
| Evi5 |
T |
C |
5: 107,943,618 (GRCm39) |
T592A |
probably benign |
Het |
| Fas |
T |
C |
19: 34,294,043 (GRCm39) |
S133P |
probably damaging |
Het |
| Gpr139 |
A |
G |
7: 118,744,427 (GRCm39) |
S53P |
probably benign |
Het |
| H2-Q4 |
T |
C |
17: 35,599,411 (GRCm39) |
F165L |
probably benign |
Het |
| Ighv9-2 |
A |
G |
12: 114,072,838 (GRCm39) |
V45A |
probably benign |
Het |
| Inpp1 |
T |
G |
1: 52,833,706 (GRCm39) |
D130A |
probably benign |
Het |
| Lin54 |
C |
T |
5: 100,628,063 (GRCm39) |
V47I |
probably benign |
Het |
| Nav3 |
TGAAGAAGAAGAAGA |
TGAAGAAGAAGA |
10: 109,550,152 (GRCm39) |
|
probably benign |
Het |
| Nexn |
T |
C |
3: 151,943,590 (GRCm39) |
T438A |
probably benign |
Het |
| Or8g4 |
T |
G |
9: 39,661,784 (GRCm39) |
I34S |
probably damaging |
Het |
| Pilrb1 |
T |
A |
5: 137,853,315 (GRCm39) |
M163L |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,420,635 (GRCm39) |
|
probably null |
Het |
| Ppard |
G |
A |
17: 28,517,822 (GRCm39) |
V297I |
probably benign |
Het |
| Rabgap1 |
T |
C |
2: 37,365,369 (GRCm39) |
V214A |
probably benign |
Het |
| Serpinc1 |
T |
C |
1: 160,817,191 (GRCm39) |
F95S |
probably damaging |
Het |
| Slc5a8 |
T |
C |
10: 88,742,209 (GRCm39) |
Y302H |
probably damaging |
Het |
| Slco4a1 |
G |
A |
2: 180,106,252 (GRCm39) |
A145T |
possibly damaging |
Het |
| Spata31g1 |
T |
A |
4: 42,971,706 (GRCm39) |
F346L |
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,382,829 (GRCm39) |
M425K |
possibly damaging |
Het |
| Tent5c |
A |
G |
3: 100,380,024 (GRCm39) |
L244P |
probably damaging |
Het |
| Trp53bp1 |
A |
G |
2: 121,074,464 (GRCm39) |
S429P |
probably benign |
Het |
| Unc13a |
T |
A |
8: 72,105,208 (GRCm39) |
T723S |
probably damaging |
Het |
| Ush2a |
A |
T |
1: 188,553,914 (GRCm39) |
I3468F |
possibly damaging |
Het |
| Utp20 |
A |
T |
10: 88,586,532 (GRCm39) |
D2547E |
probably benign |
Het |
| Wnk4 |
A |
G |
11: 101,159,574 (GRCm39) |
D593G |
possibly damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,315,756 (GRCm39) |
L1240P |
probably damaging |
Het |
|
| Other mutations in Or4c112 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01071:Or4c112
|
APN |
2 |
88,853,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02034:Or4c112
|
APN |
2 |
88,854,015 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03328:Or4c112
|
APN |
2 |
88,854,199 (GRCm39) |
nonsense |
probably null |
|
|
R0153:Or4c112
|
UTSW |
2 |
88,853,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0414:Or4c112
|
UTSW |
2 |
88,853,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0544:Or4c112
|
UTSW |
2 |
88,854,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1994:Or4c112
|
UTSW |
2 |
88,853,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2217:Or4c112
|
UTSW |
2 |
88,853,770 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3738:Or4c112
|
UTSW |
2 |
88,853,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3794:Or4c112
|
UTSW |
2 |
88,853,770 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3808:Or4c112
|
UTSW |
2 |
88,853,770 (GRCm39) |
missense |
probably benign |
0.41 |
|
R3809:Or4c112
|
UTSW |
2 |
88,853,770 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5448:Or4c112
|
UTSW |
2 |
88,853,845 (GRCm39) |
missense |
probably benign |
|
|
R7524:Or4c112
|
UTSW |
2 |
88,854,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8031:Or4c112
|
UTSW |
2 |
88,853,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8911:Or4c112
|
UTSW |
2 |
88,854,294 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9069:Or4c112
|
UTSW |
2 |
88,854,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9452:Or4c112
|
UTSW |
2 |
88,854,234 (GRCm39) |
missense |
|
|
|
R9477:Or4c112
|
UTSW |
2 |
88,853,615 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9682:Or4c112
|
UTSW |
2 |
88,854,296 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
Z1176:Or4c112
|
UTSW |
2 |
88,854,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or4c112
|
UTSW |
2 |
88,854,139 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
Z1177:Or4c112
|
UTSW |
2 |
88,853,784 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTCTCCACTGAACTGGATAC -3'
(R):5'- TTGCCTGCACAGACACACA -3'
Sequencing Primer
(F):5'- AGGCCATAAGTTGAGGCTCATTCC -3'
(R):5'- CAGACACACACATTTATGTCCTTTTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation