Incidental Mutation 'R4153:Or56a3b'
| ID |
314992 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or56a3b
|
| Ensembl Gene |
ENSMUSG00000095248 |
| Gene Name |
olfactory receptor family 56 subfamily A member 3B |
| Synonyms |
MOR40-14, GA_x6K02T2PBJ9-7750163-7751110, Olfr681 |
| MMRRC Submission |
040997-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.398)
|
| Stock # |
R4153 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
104770666-104771613 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 104771516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 284
(H284L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150733
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000071242]
[ENSMUST00000098157]
[ENSMUST00000214399]
[ENSMUST00000215517]
[ENSMUST00000215564]
[ENSMUST00000216247]
|
| AlphaFold |
Q3SXH8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071242
|
| SMART Domains |
Protein: ENSMUSP00000071223
Gene: ENSMUSG00000059768
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
23 |
299 |
1.2e-71 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
27 |
297 |
3.9e-10 |
PFAM |
|
Pfam:7tm_1
|
33 |
283 |
3.4e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071242
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098157
AA Change: H284L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095760
Gene: ENSMUSG00000095248
AA Change: H284L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
35 |
313 |
2e-72 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
39 |
311 |
6.1e-10 |
PFAM |
|
Pfam:7tm_1
|
45 |
296 |
7.6e-15 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215180
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215517
AA Change: H284L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215564
AA Change: H284L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000216247
AA Change: H284L
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| Meta Mutation Damage Score |
0.3491 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
96% (53/55) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,341,292 (GRCm39) |
V47A |
probably benign |
Het |
| 4932414N04Rik |
A |
T |
2: 68,498,941 (GRCm39) |
|
probably benign |
Het |
| Acat2 |
T |
A |
17: 13,171,153 (GRCm39) |
H159L |
possibly damaging |
Het |
| Acsl5 |
A |
G |
19: 55,269,895 (GRCm39) |
E253G |
probably benign |
Het |
| Adam34l |
T |
A |
8: 44,079,564 (GRCm39) |
Y220F |
probably benign |
Het |
| Ddx41 |
G |
A |
13: 55,682,293 (GRCm39) |
R205W |
possibly damaging |
Het |
| Ebf2 |
T |
G |
14: 67,472,672 (GRCm39) |
V30G |
probably damaging |
Het |
| Erlin1 |
T |
A |
19: 44,056,056 (GRCm39) |
T60S |
probably benign |
Het |
| Fanca |
A |
G |
8: 124,031,617 (GRCm39) |
V358A |
possibly damaging |
Het |
| Fastkd3 |
T |
C |
13: 68,738,257 (GRCm39) |
F602S |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,924,594 (GRCm39) |
N3678K |
probably benign |
Het |
| Gopc |
T |
C |
10: 52,225,239 (GRCm39) |
I277V |
probably damaging |
Het |
| Gpd2 |
A |
G |
2: 57,245,783 (GRCm39) |
T438A |
probably damaging |
Het |
| Gzma |
T |
C |
13: 113,232,802 (GRCm39) |
K97E |
possibly damaging |
Het |
| Gzmn |
T |
A |
14: 56,405,299 (GRCm39) |
T62S |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,441,560 (GRCm39) |
E570G |
probably damaging |
Het |
| Hs3st6 |
T |
C |
17: 24,977,339 (GRCm39) |
V273A |
possibly damaging |
Het |
| Jarid2 |
C |
A |
13: 45,063,902 (GRCm39) |
S873R |
probably damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Mast2 |
T |
C |
4: 116,173,160 (GRCm39) |
N548S |
possibly damaging |
Het |
| Mthfr |
G |
T |
4: 148,135,932 (GRCm39) |
R335L |
probably damaging |
Het |
| Ndst3 |
T |
C |
3: 123,465,876 (GRCm39) |
Y32C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,408,564 (GRCm39) |
L808P |
probably damaging |
Het |
| Or52b1 |
T |
C |
7: 104,978,592 (GRCm39) |
N269S |
probably damaging |
Het |
| Or8g52 |
A |
C |
9: 39,631,296 (GRCm39) |
M258L |
probably benign |
Het |
| Pgk2 |
A |
G |
17: 40,519,149 (GRCm39) |
V93A |
probably damaging |
Het |
| Pigk |
G |
A |
3: 152,445,766 (GRCm39) |
V126I |
probably damaging |
Het |
| Plcl2 |
A |
T |
17: 50,913,389 (GRCm39) |
K133* |
probably null |
Het |
| Pofut2 |
A |
G |
10: 77,104,500 (GRCm39) |
K426E |
probably benign |
Het |
| Rbpj |
T |
A |
5: 53,806,789 (GRCm39) |
H230Q |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,300,308 (GRCm39) |
K269E |
probably benign |
Het |
| Shh |
A |
T |
5: 28,662,947 (GRCm39) |
I407N |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,653,569 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
T |
4: 58,089,426 (GRCm39) |
F1661Y |
possibly damaging |
Het |
| Tep1 |
G |
A |
14: 51,075,051 (GRCm39) |
H1755Y |
possibly damaging |
Het |
| Thrap3 |
A |
C |
4: 126,067,235 (GRCm39) |
|
probably null |
Het |
| Thumpd1 |
C |
T |
7: 119,319,816 (GRCm39) |
C50Y |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,847,874 (GRCm39) |
|
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,751,747 (GRCm39) |
D1368G |
possibly damaging |
Het |
| Tubd1 |
G |
A |
11: 86,440,296 (GRCm39) |
G107S |
probably damaging |
Het |
| Ugt1a6a |
A |
G |
1: 88,066,193 (GRCm39) |
|
probably null |
Het |
| Uty |
A |
G |
Y: 1,158,327 (GRCm39) |
V572A |
possibly damaging |
Het |
| Vmn1r171 |
A |
G |
7: 23,332,077 (GRCm39) |
K89E |
probably damaging |
Het |
| Vmn2r100 |
AAAACAGGAGTATTGATTGGAAAC |
AAAAC |
17: 19,743,681 (GRCm39) |
|
probably null |
Het |
| Vmn2r106 |
A |
G |
17: 20,488,080 (GRCm39) |
L773P |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,792,173 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Or56a3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Or56a3b
|
APN |
7 |
104,771,614 (GRCm39) |
splice site |
probably null |
|
|
IGL01664:Or56a3b
|
APN |
7 |
104,771,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02691:Or56a3b
|
APN |
7 |
104,771,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02839:Or56a3b
|
APN |
7 |
104,771,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Or56a3b
|
UTSW |
7 |
104,771,557 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1139:Or56a3b
|
UTSW |
7 |
104,771,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1857:Or56a3b
|
UTSW |
7 |
104,770,751 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4391:Or56a3b
|
UTSW |
7 |
104,770,793 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R4537:Or56a3b
|
UTSW |
7 |
104,776,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4671:Or56a3b
|
UTSW |
7 |
104,771,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Or56a3b
|
UTSW |
7 |
104,771,520 (GRCm39) |
missense |
probably null |
0.07 |
|
R5215:Or56a3b
|
UTSW |
7 |
104,775,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6080:Or56a3b
|
UTSW |
7 |
104,771,116 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6194:Or56a3b
|
UTSW |
7 |
104,771,377 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7054:Or56a3b
|
UTSW |
7 |
104,771,170 (GRCm39) |
nonsense |
probably null |
|
|
R7186:Or56a3b
|
UTSW |
7 |
104,771,473 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7528:Or56a3b
|
UTSW |
7 |
104,771,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8035:Or56a3b
|
UTSW |
7 |
104,770,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8364:Or56a3b
|
UTSW |
7 |
104,770,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8433:Or56a3b
|
UTSW |
7 |
104,770,931 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8468:Or56a3b
|
UTSW |
7 |
104,770,685 (GRCm39) |
missense |
probably benign |
|
|
R9001:Or56a3b
|
UTSW |
7 |
104,771,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9129:Or56a3b
|
UTSW |
7 |
104,771,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9453:Or56a3b
|
UTSW |
7 |
104,770,817 (GRCm39) |
missense |
|
|
|
R9705:Or56a3b
|
UTSW |
7 |
104,770,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or56a3b
|
UTSW |
7 |
104,771,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or56a3b
|
UTSW |
7 |
104,771,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTGCTGAGACTCAAGGCAG -3'
(R):5'- ACCTGAATGAGATAGGGAATTTGC -3'
Sequencing Primer
(F):5'- CTGAGACTCAAGGCAGAGGGTG -3'
(R):5'- CCTCATTAGAATGTTCTGAGTTAGTG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation