Incidental Mutation 'R2270:Or8b12i'
| ID |
242397 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b12i
|
| Ensembl Gene |
ENSMUSG00000066899 |
| Gene Name |
olfactory receptor family 8 subfamily B member 12I |
| Synonyms |
GA_x6K02T2PVTD-13912679-13911744, MOR141-1, Olfr870 |
| MMRRC Submission |
040270-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R2270 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
20081930-20082865 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 20082705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 54
(H54L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086476]
[ENSMUST00000215984]
|
| AlphaFold |
Q8VGG4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000086476
AA Change: H54L
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000091405
Gene: ENSMUSG00000066899
AA Change: H54L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
311 |
1.8e-52 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
304 |
1.8e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.9e-27 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157618
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215984
AA Change: H54L
PolyPhen 2
Score 0.728 (Sensitivity: 0.86; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim1 |
G |
A |
19: 57,065,863 (GRCm39) |
R54W |
possibly damaging |
Het |
| Adam22 |
T |
C |
5: 8,171,108 (GRCm39) |
E614G |
probably damaging |
Het |
| Ap4e1 |
T |
C |
2: 126,889,083 (GRCm39) |
|
probably null |
Het |
| Arid3c |
T |
A |
4: 41,724,744 (GRCm39) |
I364F |
probably damaging |
Het |
| Atp11b |
A |
G |
3: 35,864,283 (GRCm39) |
|
probably null |
Het |
| Bmal2 |
T |
C |
6: 146,723,612 (GRCm39) |
F314S |
probably damaging |
Het |
| Carnmt1 |
T |
C |
19: 18,680,734 (GRCm39) |
L336P |
probably damaging |
Het |
| Cdh22 |
A |
T |
2: 164,985,767 (GRCm39) |
|
probably null |
Het |
| Cdk5rap2 |
A |
C |
4: 70,184,915 (GRCm39) |
S1178R |
probably benign |
Het |
| Chat |
T |
C |
14: 32,176,538 (GRCm39) |
R79G |
probably damaging |
Het |
| Chek1 |
A |
G |
9: 36,630,982 (GRCm39) |
L144P |
probably damaging |
Het |
| Cracr2a |
T |
A |
6: 127,584,261 (GRCm39) |
F107I |
probably damaging |
Het |
| Crip2 |
A |
C |
12: 113,108,486 (GRCm39) |
K62N |
probably damaging |
Het |
| Ddc |
T |
C |
11: 11,785,764 (GRCm39) |
N308D |
probably damaging |
Het |
| Dnm3 |
A |
T |
1: 162,305,358 (GRCm39) |
L12Q |
probably damaging |
Het |
| Eftud2 |
T |
C |
11: 102,755,607 (GRCm39) |
N200S |
probably damaging |
Het |
| Fgfbp1 |
T |
A |
5: 44,136,672 (GRCm39) |
M207L |
probably benign |
Het |
| Fry |
A |
G |
5: 150,324,389 (GRCm39) |
I1151V |
probably null |
Het |
| Garem2 |
T |
G |
5: 30,321,972 (GRCm39) |
L777R |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,761,186 (GRCm39) |
T509S |
probably benign |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gpr143 |
T |
A |
X: 151,573,566 (GRCm39) |
V181E |
probably damaging |
Het |
| Gtf2f1 |
T |
C |
17: 57,310,462 (GRCm39) |
I498V |
probably null |
Het |
| Ipo4 |
A |
G |
14: 55,871,557 (GRCm39) |
L168P |
probably damaging |
Het |
| Ism1 |
T |
A |
2: 139,599,293 (GRCm39) |
I415N |
probably damaging |
Het |
| Lipa |
T |
A |
19: 34,488,290 (GRCm39) |
R119* |
probably null |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mre11a |
A |
G |
9: 14,726,470 (GRCm39) |
E411G |
probably benign |
Het |
| Mybpc1 |
C |
A |
10: 88,387,269 (GRCm39) |
V106F |
probably benign |
Het |
| Myo5b |
G |
T |
18: 74,866,996 (GRCm39) |
L1382F |
probably damaging |
Het |
| N4bp3 |
A |
T |
11: 51,535,132 (GRCm39) |
N352K |
probably benign |
Het |
| Ncbp2 |
T |
C |
16: 31,775,769 (GRCm39) |
Y138H |
probably damaging |
Het |
| Ncor2 |
A |
G |
5: 125,115,019 (GRCm39) |
V515A |
probably benign |
Het |
| Ndufv1 |
C |
A |
19: 4,058,347 (GRCm39) |
R359L |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Olfm4 |
C |
A |
14: 80,249,315 (GRCm39) |
T144K |
probably damaging |
Het |
| Or11g25 |
G |
T |
14: 50,723,494 (GRCm39) |
C193F |
probably damaging |
Het |
| Pes1 |
C |
A |
11: 3,919,524 (GRCm39) |
L66I |
probably damaging |
Het |
| Phf12 |
G |
T |
11: 77,875,001 (GRCm39) |
A76S |
possibly damaging |
Het |
| Plb1 |
G |
T |
5: 32,450,586 (GRCm39) |
D376Y |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,472,681 (GRCm39) |
|
probably null |
Het |
| Prkg1 |
A |
G |
19: 30,556,031 (GRCm39) |
V610A |
probably benign |
Het |
| Prrc2a |
T |
C |
17: 35,368,512 (GRCm39) |
T2104A |
possibly damaging |
Het |
| Rab3gap2 |
T |
A |
1: 185,015,739 (GRCm39) |
|
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,291,749 (GRCm39) |
V252A |
probably benign |
Het |
| Rcn3 |
A |
G |
7: 44,738,075 (GRCm39) |
S98P |
probably damaging |
Het |
| Rere |
T |
C |
4: 150,561,837 (GRCm39) |
S248P |
unknown |
Het |
| Rnaseh2a |
T |
C |
8: 85,692,048 (GRCm39) |
E75G |
probably benign |
Het |
| Slc15a1 |
A |
T |
14: 121,717,406 (GRCm39) |
M292K |
probably damaging |
Het |
| Slc1a2 |
T |
G |
2: 102,566,339 (GRCm39) |
L14R |
probably damaging |
Het |
| Slfn2 |
C |
T |
11: 82,960,761 (GRCm39) |
R247C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,778,708 (GRCm39) |
I1218M |
probably damaging |
Het |
| Usp7 |
T |
C |
16: 8,516,333 (GRCm39) |
S649G |
probably benign |
Het |
| Yme1l1 |
T |
C |
2: 23,065,232 (GRCm39) |
I247T |
possibly damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,569,587 (GRCm39) |
M1478T |
probably benign |
Het |
| Zfp444 |
T |
C |
7: 6,192,554 (GRCm39) |
C191R |
probably damaging |
Het |
| Zfp729b |
A |
T |
13: 67,740,352 (GRCm39) |
C648S |
probably damaging |
Het |
| Znhit2 |
A |
G |
19: 6,111,261 (GRCm39) |
E2G |
probably damaging |
Het |
| Zpbp |
A |
T |
11: 11,368,272 (GRCm39) |
M133K |
probably benign |
Het |
|
| Other mutations in Or8b12i |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01149:Or8b12i
|
APN |
9 |
20,082,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01809:Or8b12i
|
APN |
9 |
20,082,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02130:Or8b12i
|
APN |
9 |
20,082,654 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03062:Or8b12i
|
APN |
9 |
20,082,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03133:Or8b12i
|
APN |
9 |
20,082,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Or8b12i
|
UTSW |
9 |
20,082,561 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0350:Or8b12i
|
UTSW |
9 |
20,082,032 (GRCm39) |
nonsense |
probably null |
|
|
R0417:Or8b12i
|
UTSW |
9 |
20,082,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Or8b12i
|
UTSW |
9 |
20,082,561 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0469:Or8b12i
|
UTSW |
9 |
20,082,561 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1169:Or8b12i
|
UTSW |
9 |
20,082,354 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1728:Or8b12i
|
UTSW |
9 |
20,082,209 (GRCm39) |
nonsense |
probably null |
|
|
R1729:Or8b12i
|
UTSW |
9 |
20,082,209 (GRCm39) |
nonsense |
probably null |
|
|
R1776:Or8b12i
|
UTSW |
9 |
20,082,105 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1784:Or8b12i
|
UTSW |
9 |
20,082,209 (GRCm39) |
nonsense |
probably null |
|
|
R1914:Or8b12i
|
UTSW |
9 |
20,082,324 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1915:Or8b12i
|
UTSW |
9 |
20,082,324 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1929:Or8b12i
|
UTSW |
9 |
20,082,705 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1936:Or8b12i
|
UTSW |
9 |
20,082,477 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Or8b12i
|
UTSW |
9 |
20,082,850 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2137:Or8b12i
|
UTSW |
9 |
20,082,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2221:Or8b12i
|
UTSW |
9 |
20,082,388 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2271:Or8b12i
|
UTSW |
9 |
20,082,705 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2272:Or8b12i
|
UTSW |
9 |
20,082,705 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R2509:Or8b12i
|
UTSW |
9 |
20,082,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2939:Or8b12i
|
UTSW |
9 |
20,082,061 (GRCm39) |
missense |
probably benign |
|
|
R2940:Or8b12i
|
UTSW |
9 |
20,082,061 (GRCm39) |
missense |
probably benign |
|
|
R3081:Or8b12i
|
UTSW |
9 |
20,082,061 (GRCm39) |
missense |
probably benign |
|
|
R4579:Or8b12i
|
UTSW |
9 |
20,082,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4667:Or8b12i
|
UTSW |
9 |
20,082,394 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5681:Or8b12i
|
UTSW |
9 |
20,082,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5686:Or8b12i
|
UTSW |
9 |
20,082,265 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5857:Or8b12i
|
UTSW |
9 |
20,082,535 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6561:Or8b12i
|
UTSW |
9 |
20,082,073 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6842:Or8b12i
|
UTSW |
9 |
20,082,549 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6987:Or8b12i
|
UTSW |
9 |
20,082,130 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7641:Or8b12i
|
UTSW |
9 |
20,082,549 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7674:Or8b12i
|
UTSW |
9 |
20,082,549 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8375:Or8b12i
|
UTSW |
9 |
20,082,037 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8445:Or8b12i
|
UTSW |
9 |
20,082,394 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9489:Or8b12i
|
UTSW |
9 |
20,082,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9605:Or8b12i
|
UTSW |
9 |
20,082,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACAAATCGGTCATAGGCC -3'
(R):5'- CCAGTAGGTGTCTAGCTTATTTGTC -3'
Sequencing Primer
(F):5'- AGGAGAAGTGTGTCCATGCCTC -3'
(R):5'- GGTGTCTAGCTTATTTGTCAACAAC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation