Incidental Mutation 'IGL03120:Or56b2'
| ID |
409934 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or56b2
|
| Ensembl Gene |
ENSMUSG00000073920 |
| Gene Name |
olfactory receptor family 56 subfamily B member 2 |
| Synonyms |
Olfr661, MOR40-4, GA_x6K02T2PBJ9-7316375-7317334 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
IGL03120
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
104337224-104338183 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104337609 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 129
(Y129F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151208
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098168]
[ENSMUST00000214876]
|
| AlphaFold |
Q99NH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098168
AA Change: Y129F
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095770
Gene: ENSMUSG00000073920
AA Change: Y129F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
37 |
314 |
5.9e-74 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
41 |
312 |
2e-9 |
PFAM |
|
Pfam:7tm_1
|
47 |
297 |
1.1e-14 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211165
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214876
AA Change: Y129F
PolyPhen 2
Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215864
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
A |
G |
9: 122,778,118 (GRCm39) |
L42P |
probably benign |
Het |
| Cacna1e |
T |
C |
1: 154,319,627 (GRCm39) |
I1420V |
probably damaging |
Het |
| Cemip2 |
G |
A |
19: 21,801,207 (GRCm39) |
D775N |
possibly damaging |
Het |
| Corin |
T |
C |
5: 72,518,032 (GRCm39) |
Y263C |
probably damaging |
Het |
| Cyp4f15 |
A |
T |
17: 32,909,738 (GRCm39) |
I112F |
probably damaging |
Het |
| Dach1 |
T |
C |
14: 98,065,225 (GRCm39) |
E724G |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,101,008 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,312,674 (GRCm39) |
E4297V |
probably damaging |
Het |
| Dot1l |
A |
G |
10: 80,622,107 (GRCm39) |
|
probably benign |
Het |
| Endod1 |
C |
A |
9: 14,268,331 (GRCm39) |
V385F |
probably damaging |
Het |
| Etnppl |
A |
G |
3: 130,414,341 (GRCm39) |
T73A |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,373,206 (GRCm39) |
D104V |
possibly damaging |
Het |
| Gp5 |
T |
C |
16: 30,127,016 (GRCm39) |
I553V |
possibly damaging |
Het |
| Gpc5 |
A |
G |
14: 115,607,556 (GRCm39) |
E386G |
possibly damaging |
Het |
| Hbb-bs |
A |
G |
7: 103,476,985 (GRCm39) |
|
probably benign |
Het |
| Klra2 |
T |
A |
6: 131,197,180 (GRCm39) |
Y273F |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,507,801 (GRCm39) |
|
probably benign |
Het |
| Msto1 |
A |
T |
3: 88,818,116 (GRCm39) |
V366E |
probably damaging |
Het |
| Mtcl1 |
A |
G |
17: 66,686,378 (GRCm39) |
S843P |
probably damaging |
Het |
| Nhsl2 |
A |
G |
X: 101,114,939 (GRCm39) |
N97S |
probably benign |
Het |
| Npm2 |
C |
A |
14: 70,890,039 (GRCm39) |
|
probably benign |
Het |
| Npr2 |
C |
T |
4: 43,643,133 (GRCm39) |
R506C |
probably damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,898 (GRCm39) |
E36G |
probably damaging |
Het |
| Pcdhb19 |
A |
G |
18: 37,631,209 (GRCm39) |
I335V |
probably benign |
Het |
| Pla2g6 |
T |
C |
15: 79,171,060 (GRCm39) |
D772G |
probably damaging |
Het |
| Ppfibp1 |
C |
A |
6: 146,899,667 (GRCm39) |
D119E |
probably benign |
Het |
| Prdm9 |
T |
C |
17: 15,765,193 (GRCm39) |
N529S |
probably benign |
Het |
| Rnf20 |
T |
A |
4: 49,649,955 (GRCm39) |
|
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,869 (GRCm39) |
V77A |
possibly damaging |
Het |
| Tmem132c |
T |
A |
5: 127,640,448 (GRCm39) |
V873E |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,757,428 (GRCm39) |
|
probably null |
Het |
| Vmn2r54 |
A |
G |
7: 12,349,314 (GRCm39) |
I756T |
probably damaging |
Het |
|
| Other mutations in Or56b2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01161:Or56b2
|
APN |
7 |
104,337,588 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01578:Or56b2
|
APN |
7 |
104,338,052 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01595:Or56b2
|
APN |
7 |
104,337,285 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01732:Or56b2
|
APN |
7 |
104,337,543 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02086:Or56b2
|
APN |
7 |
104,337,634 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02421:Or56b2
|
APN |
7 |
104,337,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02874:Or56b2
|
APN |
7 |
104,337,230 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0735:Or56b2
|
UTSW |
7 |
104,338,026 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1246:Or56b2
|
UTSW |
7 |
104,337,371 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R1654:Or56b2
|
UTSW |
7 |
104,337,420 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1994:Or56b2
|
UTSW |
7 |
104,337,690 (GRCm39) |
missense |
probably benign |
0.12 |
|
R3686:Or56b2
|
UTSW |
7 |
104,337,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5140:Or56b2
|
UTSW |
7 |
104,338,107 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5627:Or56b2
|
UTSW |
7 |
104,337,377 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6338:Or56b2
|
UTSW |
7 |
104,337,378 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8810:Or56b2
|
UTSW |
7 |
104,337,387 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8954:Or56b2
|
UTSW |
7 |
104,337,900 (GRCm39) |
nonsense |
probably null |
|
|
R9261:Or56b2
|
UTSW |
7 |
104,337,260 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation