Incidental Mutation 'R6487:Or4c35'
| ID |
517467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4c35
|
| Ensembl Gene |
ENSMUSG00000042894 |
| Gene Name |
olfactory receptor family 4 subfamily C member 35 |
| Synonyms |
GA_x6K02T2Q125-51409740-51410672, Olfr1260, MOR232-2 |
| MMRRC Submission |
044619-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.150)
|
| Stock # |
R6487 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
89808124-89809056 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 89808182 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 20
(D20V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149289
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061830]
[ENSMUST00000111512]
[ENSMUST00000144710]
[ENSMUST00000214630]
[ENSMUST00000216678]
|
| AlphaFold |
Q8VGN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061830
AA Change: D20V
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000053523
Gene: ENSMUSG00000042894
AA Change: D20V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
303 |
2.7e-45 |
PFAM |
|
Pfam:7tm_1
|
39 |
285 |
1.7e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111512
AA Change: D20V
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000107137
Gene: ENSMUSG00000042894
AA Change: D20V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
285 |
7.4e-27 |
PFAM |
|
Pfam:7tm_4
|
137 |
278 |
2.4e-38 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141685
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144613
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144710
AA Change: D20V
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000119512
Gene: ENSMUSG00000042894
AA Change: D20V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
39 |
121 |
4.2e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213162
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214630
AA Change: D20V
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216678
AA Change: D20V
PolyPhen 2
Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216744
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.8%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,616,446 (GRCm39) |
Y963H |
possibly damaging |
Het |
| Alpk2 |
T |
C |
18: 65,399,254 (GRCm39) |
N2108S |
possibly damaging |
Het |
| Atp13a1 |
T |
C |
8: 70,252,528 (GRCm39) |
S641P |
probably damaging |
Het |
| Bptf |
C |
T |
11: 106,968,552 (GRCm39) |
V981I |
probably damaging |
Het |
| Cntrl |
A |
T |
2: 35,012,694 (GRCm39) |
K277N |
possibly damaging |
Het |
| Cops5 |
T |
C |
1: 10,108,004 (GRCm39) |
T12A |
probably benign |
Het |
| Cyp2c37 |
A |
T |
19: 39,983,025 (GRCm39) |
T205S |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,808,284 (GRCm39) |
V3485A |
probably damaging |
Het |
| Ifna6 |
A |
T |
4: 88,745,743 (GRCm39) |
N31Y |
probably damaging |
Het |
| Irgm1 |
C |
A |
11: 48,756,777 (GRCm39) |
A345S |
probably benign |
Het |
| Kics2 |
T |
C |
10: 121,581,446 (GRCm39) |
L13P |
probably damaging |
Het |
| Med13 |
T |
C |
11: 86,221,976 (GRCm39) |
T218A |
probably damaging |
Het |
| Mroh2b |
G |
T |
15: 4,976,721 (GRCm39) |
D1225Y |
probably damaging |
Het |
| Npepl1 |
A |
G |
2: 173,953,525 (GRCm39) |
E152G |
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,923,055 (GRCm39) |
E440G |
possibly damaging |
Het |
| Or4k38 |
T |
C |
2: 111,166,012 (GRCm39) |
D137G |
probably benign |
Het |
| Or5d41 |
A |
G |
2: 88,054,870 (GRCm39) |
S169P |
possibly damaging |
Het |
| Or5h26 |
A |
T |
16: 58,988,536 (GRCm39) |
|
probably null |
Het |
| Or8b54 |
A |
G |
9: 38,686,731 (GRCm39) |
Y60C |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,321,563 (GRCm39) |
V2620A |
probably benign |
Het |
| Rims4 |
A |
T |
2: 163,706,817 (GRCm39) |
F187Y |
possibly damaging |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Shisa9 |
C |
T |
16: 12,062,475 (GRCm39) |
T232I |
probably benign |
Het |
| Slf1 |
A |
T |
13: 77,214,736 (GRCm39) |
I650N |
probably damaging |
Het |
| Tpst2 |
T |
C |
5: 112,455,989 (GRCm39) |
L176P |
probably damaging |
Het |
| U2surp |
A |
T |
9: 95,359,565 (GRCm39) |
M650K |
probably damaging |
Het |
| Vmn1r17 |
A |
T |
6: 57,338,209 (GRCm39) |
M3K |
possibly damaging |
Het |
| Vmn1r55 |
A |
G |
7: 5,149,554 (GRCm39) |
S290P |
probably benign |
Het |
| Vmn2r102 |
G |
A |
17: 19,898,169 (GRCm39) |
E395K |
probably damaging |
Het |
| Wapl |
T |
A |
14: 34,414,249 (GRCm39) |
H370Q |
probably damaging |
Het |
| Xab2 |
T |
C |
8: 3,663,879 (GRCm39) |
S347G |
possibly damaging |
Het |
|
| Other mutations in Or4c35 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01548:Or4c35
|
APN |
2 |
89,808,883 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL01657:Or4c35
|
APN |
2 |
89,808,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01942:Or4c35
|
APN |
2 |
89,808,322 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02139:Or4c35
|
APN |
2 |
89,808,773 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02926:Or4c35
|
APN |
2 |
89,808,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03110:Or4c35
|
APN |
2 |
89,808,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03368:Or4c35
|
APN |
2 |
89,808,133 (GRCm39) |
missense |
probably benign |
|
|
R0046:Or4c35
|
UTSW |
2 |
89,808,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Or4c35
|
UTSW |
2 |
89,808,851 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0087:Or4c35
|
UTSW |
2 |
89,808,475 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0599:Or4c35
|
UTSW |
2 |
89,808,545 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1208:Or4c35
|
UTSW |
2 |
89,808,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1208:Or4c35
|
UTSW |
2 |
89,808,836 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1424:Or4c35
|
UTSW |
2 |
89,808,415 (GRCm39) |
nonsense |
probably null |
|
|
R1503:Or4c35
|
UTSW |
2 |
89,808,872 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1708:Or4c35
|
UTSW |
2 |
89,808,382 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1863:Or4c35
|
UTSW |
2 |
89,808,754 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1866:Or4c35
|
UTSW |
2 |
89,808,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2072:Or4c35
|
UTSW |
2 |
89,808,557 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2219:Or4c35
|
UTSW |
2 |
89,808,256 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4606:Or4c35
|
UTSW |
2 |
89,808,350 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4674:Or4c35
|
UTSW |
2 |
89,808,250 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R4825:Or4c35
|
UTSW |
2 |
89,808,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5822:Or4c35
|
UTSW |
2 |
89,808,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6706:Or4c35
|
UTSW |
2 |
89,808,929 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7961:Or4c35
|
UTSW |
2 |
89,808,131 (GRCm39) |
missense |
probably benign |
|
|
R8812:Or4c35
|
UTSW |
2 |
89,808,715 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9504:Or4c35
|
UTSW |
2 |
89,808,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9618:Or4c35
|
UTSW |
2 |
89,808,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0050:Or4c35
|
UTSW |
2 |
89,808,360 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCCCCATCTGTGTAACTGTG -3'
(R):5'- GCAGCCATTGAAGGAGATTG -3'
Sequencing Primer
(F):5'- CCCATCTGTGTAACTGTGAAAAATAC -3'
(R):5'- CAGCCATTGAAGGAGATTGTTTTCC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation