Incidental Mutation 'IGL01087:Or2h1b'
| ID |
53035 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2h1b
|
| Ensembl Gene |
ENSMUSG00000091601 |
| Gene Name |
olfactory receptor family 2 subfamily H member 1B |
| Synonyms |
MOR256-39P, GA_x6K02T2PSCP-1592036-1591098, Olfr93 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
IGL01087
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
37461923-37462861 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 37462332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 177
(C177Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171679]
[ENSMUST00000208003]
[ENSMUST00000219235]
|
| AlphaFold |
Q6UAH1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171679
AA Change: C177Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125907
Gene: ENSMUSG00000091601
AA Change: C177Y
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
5.7e-50 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
3.3e-28 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208003
AA Change: C23Y
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000219235
AA Change: C177Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| 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 |
|---|
| 1700003E16Rik |
A |
T |
6: 83,139,770 (GRCm39) |
|
probably null |
Het |
| Abca6 |
C |
A |
11: 110,082,476 (GRCm39) |
A1166S |
probably benign |
Het |
| Arhgdib |
C |
A |
6: 136,910,622 (GRCm39) |
K46N |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,971,209 (GRCm39) |
V2507D |
probably damaging |
Het |
| B4galnt1 |
A |
T |
10: 127,002,060 (GRCm39) |
I63F |
probably damaging |
Het |
| Bclaf1 |
A |
G |
10: 20,201,056 (GRCm39) |
D394G |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,915,763 (GRCm39) |
D442G |
probably damaging |
Het |
| Cd44 |
A |
T |
2: 102,652,607 (GRCm39) |
L492H |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,721,562 (GRCm39) |
S162N |
probably damaging |
Het |
| Chsy1 |
T |
G |
7: 65,821,874 (GRCm39) |
V703G |
possibly damaging |
Het |
| Clrn2 |
T |
C |
5: 45,621,311 (GRCm39) |
|
probably benign |
Het |
| Crtc3 |
T |
C |
7: 80,248,487 (GRCm39) |
|
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,485,978 (GRCm39) |
T342A |
probably benign |
Het |
| Dgki |
T |
C |
6: 36,989,846 (GRCm39) |
D631G |
probably damaging |
Het |
| Eif3b |
T |
C |
5: 140,426,862 (GRCm39) |
I706T |
probably damaging |
Het |
| Fam120a |
A |
G |
13: 49,055,549 (GRCm39) |
L713P |
probably damaging |
Het |
| I830077J02Rik |
C |
A |
3: 105,836,049 (GRCm39) |
|
probably null |
Het |
| Jmjd8 |
A |
C |
17: 26,048,145 (GRCm39) |
|
probably benign |
Het |
| Kmt5a |
T |
C |
5: 124,589,443 (GRCm39) |
|
probably benign |
Het |
| Krt87 |
C |
A |
15: 101,329,706 (GRCm39) |
C486F |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,354,417 (GRCm39) |
N470K |
probably damaging |
Het |
| Med1 |
C |
A |
11: 98,071,111 (GRCm39) |
D79Y |
probably damaging |
Het |
| Myo1d |
A |
G |
11: 80,573,261 (GRCm39) |
S189P |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,697,361 (GRCm39) |
Y381N |
possibly damaging |
Het |
| Nipbl |
C |
A |
15: 8,379,981 (GRCm39) |
S937I |
possibly damaging |
Het |
| Nlrp4g |
A |
G |
9: 124,353,858 (GRCm38) |
|
noncoding transcript |
Het |
| Nutm2 |
A |
G |
13: 50,623,665 (GRCm39) |
T121A |
probably damaging |
Het |
| Opa1 |
C |
T |
16: 29,405,815 (GRCm39) |
P127S |
probably damaging |
Het |
| Pcdh15 |
A |
T |
10: 74,178,464 (GRCm39) |
I574F |
possibly damaging |
Het |
| Pcnx1 |
G |
A |
12: 82,042,113 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
A |
G |
1: 11,138,328 (GRCm39) |
T136A |
probably benign |
Het |
| Prph2 |
A |
G |
17: 47,222,085 (GRCm39) |
T155A |
probably damaging |
Het |
| Rsl1d1 |
T |
C |
16: 11,012,539 (GRCm39) |
K296E |
possibly damaging |
Het |
| Syne1 |
A |
T |
10: 5,375,708 (GRCm39) |
I128N |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,582,660 (GRCm39) |
N156K |
possibly damaging |
Het |
| Trem2 |
C |
T |
17: 48,658,956 (GRCm39) |
T222I |
probably damaging |
Het |
| Trip12 |
A |
T |
1: 84,735,580 (GRCm39) |
F872L |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,783,349 (GRCm39) |
S3393T |
probably damaging |
Het |
| Vwa8 |
T |
A |
14: 79,172,669 (GRCm39) |
S304T |
probably benign |
Het |
| Zc3h7a |
T |
C |
16: 10,971,046 (GRCm39) |
T328A |
probably benign |
Het |
|
| Other mutations in Or2h1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02369:Or2h1b
|
APN |
17 |
37,462,665 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02392:Or2h1b
|
APN |
17 |
37,461,979 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02516:Or2h1b
|
APN |
17 |
37,462,163 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL03089:Or2h1b
|
APN |
17 |
37,462,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4515001:Or2h1b
|
UTSW |
17 |
37,462,270 (GRCm39) |
missense |
probably benign |
|
|
R0396:Or2h1b
|
UTSW |
17 |
37,462,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2276:Or2h1b
|
UTSW |
17 |
37,462,145 (GRCm39) |
nonsense |
probably null |
|
|
R2278:Or2h1b
|
UTSW |
17 |
37,462,145 (GRCm39) |
nonsense |
probably null |
|
|
R3419:Or2h1b
|
UTSW |
17 |
37,462,242 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4254:Or2h1b
|
UTSW |
17 |
37,462,530 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4353:Or2h1b
|
UTSW |
17 |
37,462,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4530:Or2h1b
|
UTSW |
17 |
37,462,498 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4666:Or2h1b
|
UTSW |
17 |
37,462,270 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5583:Or2h1b
|
UTSW |
17 |
37,462,485 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5834:Or2h1b
|
UTSW |
17 |
37,462,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6348:Or2h1b
|
UTSW |
17 |
37,462,497 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6461:Or2h1b
|
UTSW |
17 |
37,462,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6788:Or2h1b
|
UTSW |
17 |
37,462,713 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7969:Or2h1b
|
UTSW |
17 |
37,462,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8374:Or2h1b
|
UTSW |
17 |
37,462,636 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9126:Or2h1b
|
UTSW |
17 |
37,462,123 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9298:Or2h1b
|
UTSW |
17 |
37,462,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or2h1b
|
UTSW |
17 |
37,462,716 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation