Incidental Mutation 'R3620:Or4c126'
| ID |
268582 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c126
|
| Ensembl Gene |
ENSMUSG00000061295 |
| Gene Name |
olfactory receptor family 4 subfamily C member 126 |
| Synonyms |
MOR234-3, Olfr1261, GA_x6K02T2Q125-51425355-51426275 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R3620 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89823739-89824659 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 89824196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 153
(I153T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150711
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077785]
[ENSMUST00000111509]
[ENSMUST00000213909]
[ENSMUST00000216953]
|
| AlphaFold |
Q8VFB0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077785
AA Change: I153T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076959
Gene: ENSMUSG00000061295
AA Change: I153T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
30 |
297 |
1.5e-6 |
PFAM |
|
Pfam:7tm_1
|
36 |
282 |
4.5e-26 |
PFAM |
|
Pfam:7tm_4
|
134 |
275 |
4.4e-36 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111509
|
| SMART Domains |
Protein: ENSMUSP00000107134
Gene: ENSMUSG00000061295
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
25 |
299 |
1.8e-41 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
30 |
297 |
1.5e-6 |
PFAM |
|
Pfam:7tm_1
|
36 |
282 |
4.5e-17 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213909
AA Change: I153T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216953
AA Change: I153T
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
100% (44/44) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
T |
C |
17: 9,226,864 (GRCm39) |
M473T |
probably benign |
Het |
| Asxl1 |
C |
A |
2: 153,199,075 (GRCm39) |
R76S |
probably damaging |
Het |
| Bhlhe41 |
C |
A |
6: 145,808,733 (GRCm39) |
G360C |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,380,227 (GRCm39) |
I201T |
probably benign |
Het |
| Ccng1 |
T |
C |
11: 40,642,992 (GRCm39) |
T152A |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,962,928 (GRCm39) |
V648A |
probably benign |
Het |
| Cldn16 |
T |
A |
16: 26,296,302 (GRCm39) |
F93I |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 16,042,684 (GRCm39) |
S2350G |
probably benign |
Het |
| Enpp6 |
T |
C |
8: 47,518,540 (GRCm39) |
W223R |
probably benign |
Het |
| Fah |
T |
C |
7: 84,238,159 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
T |
11: 55,147,521 (GRCm39) |
V3907D |
probably damaging |
Het |
| Fsip2 |
C |
A |
2: 82,810,602 (GRCm39) |
T2307K |
probably benign |
Het |
| Gcg |
T |
C |
2: 62,307,279 (GRCm39) |
E94G |
probably damaging |
Het |
| Gramd1b |
C |
A |
9: 40,366,842 (GRCm39) |
R42L |
probably benign |
Het |
| H2bc9 |
C |
A |
13: 23,727,324 (GRCm39) |
V67L |
probably benign |
Het |
| Hdc |
T |
A |
2: 126,458,187 (GRCm39) |
Y45F |
possibly damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,243,752 (GRCm39) |
D194A |
probably damaging |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,077,452 (GRCm39) |
C412S |
probably benign |
Het |
| Mga |
T |
A |
2: 119,747,149 (GRCm39) |
D433E |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,369,468 (GRCm39) |
S743C |
possibly damaging |
Het |
| Myo15b |
T |
G |
11: 115,762,013 (GRCm39) |
L1176R |
possibly damaging |
Het |
| Ndor1 |
T |
C |
2: 25,138,047 (GRCm39) |
Q526R |
probably damaging |
Het |
| Nipbl |
A |
G |
15: 8,362,508 (GRCm39) |
I1429T |
probably damaging |
Het |
| Or1d2 |
T |
A |
11: 74,256,050 (GRCm39) |
L185Q |
probably damaging |
Het |
| Or4k38 |
T |
A |
2: 111,165,689 (GRCm39) |
I245L |
probably benign |
Het |
| Otogl |
T |
C |
10: 107,710,232 (GRCm39) |
D619G |
probably damaging |
Het |
| Pa2g4 |
C |
G |
10: 128,399,464 (GRCm39) |
E67Q |
probably damaging |
Het |
| Pnpla1 |
C |
T |
17: 29,096,362 (GRCm39) |
A147V |
probably damaging |
Het |
| Prdm13 |
A |
G |
4: 21,683,532 (GRCm39) |
Y143H |
unknown |
Het |
| Rad23a |
A |
G |
8: 85,567,193 (GRCm39) |
M1T |
probably null |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Slc10a2 |
A |
T |
8: 5,154,909 (GRCm39) |
I92N |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,185,222 (GRCm39) |
F111L |
probably damaging |
Het |
| Sox11 |
T |
C |
12: 27,391,735 (GRCm39) |
T225A |
probably benign |
Het |
| Thbs1 |
T |
C |
2: 117,951,640 (GRCm39) |
V820A |
probably benign |
Het |
| Unc45a |
G |
T |
7: 79,983,799 (GRCm39) |
N332K |
possibly damaging |
Het |
| Vmn1r159 |
A |
C |
7: 22,542,258 (GRCm39) |
I258S |
possibly damaging |
Het |
| Wdr31 |
A |
T |
4: 62,375,701 (GRCm39) |
F251L |
possibly damaging |
Het |
| Wdr43 |
C |
T |
17: 71,957,601 (GRCm39) |
T530M |
probably benign |
Het |
| Zfp445 |
C |
T |
9: 122,681,833 (GRCm39) |
A703T |
probably benign |
Het |
|
| Other mutations in Or4c126 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02582:Or4c126
|
APN |
2 |
89,824,656 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0140:Or4c126
|
UTSW |
2 |
89,824,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0220:Or4c126
|
UTSW |
2 |
89,824,206 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0243:Or4c126
|
UTSW |
2 |
89,824,150 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1644:Or4c126
|
UTSW |
2 |
89,824,297 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1669:Or4c126
|
UTSW |
2 |
89,824,144 (GRCm39) |
splice site |
probably null |
|
|
R1916:Or4c126
|
UTSW |
2 |
89,824,148 (GRCm39) |
missense |
probably benign |
|
|
R4190:Or4c126
|
UTSW |
2 |
89,823,918 (GRCm39) |
nonsense |
probably null |
|
|
R5260:Or4c126
|
UTSW |
2 |
89,824,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5591:Or4c126
|
UTSW |
2 |
89,823,751 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5907:Or4c126
|
UTSW |
2 |
89,824,301 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5910:Or4c126
|
UTSW |
2 |
89,823,782 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6044:Or4c126
|
UTSW |
2 |
89,823,761 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6556:Or4c126
|
UTSW |
2 |
89,824,517 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7083:Or4c126
|
UTSW |
2 |
89,824,201 (GRCm39) |
missense |
probably benign |
|
|
R7439:Or4c126
|
UTSW |
2 |
89,824,183 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8439:Or4c126
|
UTSW |
2 |
89,824,348 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8745:Or4c126
|
UTSW |
2 |
89,824,076 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAATGGCTGCATGACTCAG -3'
(R):5'- TTCTCAGGGAGCGAAGGATG -3'
Sequencing Primer
(F):5'- CATGACTCAGCTTTTTGTGGAGC -3'
(R):5'- GGATGACCACATAGGAAGCAACC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation