Incidental Mutation 'R6353:Or8b44'
| ID |
512302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or8b44
|
| Ensembl Gene |
ENSMUSG00000094810 |
| Gene Name |
olfactory receptor family 8 subfamily B member 44 |
| Synonyms |
MOR165-5, GA_x6K02T2PVTD-32204729-32205661, Olfr907 |
| MMRRC Submission |
044505-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.056)
|
| Stock # |
R6353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
38409967-38410899 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38410112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 49
(I49T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148894
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052901]
[ENSMUST00000214003]
[ENSMUST00000214264]
|
| AlphaFold |
Q7TRC7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052901
AA Change: I49T
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000051531
Gene: ENSMUSG00000094810
AA Change: I49T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
3.4e-46 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214003
AA Change: I49T
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214264
AA Change: I49T
PolyPhen 2
Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
C |
A |
9: 53,325,642 (GRCm39) |
Q60K |
probably benign |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,659,529 (GRCm39) |
L327F |
probably damaging |
Het |
| Aamp |
T |
C |
1: 74,319,987 (GRCm39) |
D397G |
probably benign |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Acta1 |
T |
C |
8: 124,620,426 (GRCm39) |
E4G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,059,421 (GRCm39) |
K2601N |
probably damaging |
Het |
| Arpin |
C |
A |
7: 79,585,093 (GRCm39) |
|
probably benign |
Het |
| Asnsd1 |
T |
C |
1: 53,386,938 (GRCm39) |
I230V |
probably benign |
Het |
| Baiap2l1 |
C |
T |
5: 144,218,898 (GRCm39) |
E237K |
possibly damaging |
Het |
| Chek1 |
T |
C |
9: 36,635,255 (GRCm39) |
K43E |
probably benign |
Het |
| Clec2g |
T |
A |
6: 128,959,895 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
A |
G |
9: 114,426,614 (GRCm39) |
L646P |
probably damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,474,135 (GRCm39) |
T102A |
probably benign |
Het |
| Dnase1l2 |
A |
T |
17: 24,661,219 (GRCm39) |
L30Q |
probably damaging |
Het |
| Edc3 |
T |
C |
9: 57,623,520 (GRCm39) |
S152P |
probably benign |
Het |
| Gask1b |
A |
T |
3: 79,848,647 (GRCm39) |
R464S |
probably damaging |
Het |
| Gpr160 |
A |
T |
3: 30,950,171 (GRCm39) |
D81V |
probably damaging |
Het |
| Intu |
A |
T |
3: 40,608,138 (GRCm39) |
D32V |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,950 (GRCm39) |
E512G |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,131,760 (GRCm39) |
F561L |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,698,243 (GRCm39) |
V645E |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,836,909 (GRCm39) |
F247S |
probably damaging |
Het |
| Nek9 |
G |
A |
12: 85,348,603 (GRCm39) |
T977I |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,173,969 (GRCm39) |
T1015A |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,531,680 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Nudcd1 |
T |
C |
15: 44,284,158 (GRCm39) |
Y76C |
probably damaging |
Het |
| Or2a54 |
C |
A |
6: 43,093,070 (GRCm39) |
Y131* |
probably null |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prl7c1 |
A |
G |
13: 27,957,709 (GRCm39) |
S244P |
possibly damaging |
Het |
| Rpap1 |
G |
T |
2: 119,607,377 (GRCm39) |
|
probably null |
Het |
| Rrp8 |
G |
A |
7: 105,383,325 (GRCm39) |
R314* |
probably null |
Het |
| Smarca4 |
T |
A |
9: 21,590,445 (GRCm39) |
|
probably null |
Het |
| Stambpl1 |
A |
G |
19: 34,211,520 (GRCm39) |
|
probably null |
Het |
| Tmeff2 |
T |
C |
1: 51,220,985 (GRCm39) |
V320A |
probably damaging |
Het |
| Top2b |
A |
G |
14: 16,416,671 (GRCm38) |
K83E |
probably damaging |
Het |
| Ttc39b |
C |
G |
4: 83,148,730 (GRCm39) |
V560L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,672,153 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,913,107 (GRCm39) |
I934V |
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,836,410 (GRCm39) |
I122V |
probably damaging |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,944 (GRCm39) |
N267S |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,119 (GRCm39) |
N331D |
probably benign |
Het |
|
| Other mutations in Or8b44 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01506:Or8b44
|
APN |
9 |
38,410,171 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL01960:Or8b44
|
APN |
9 |
38,410,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02612:Or8b44
|
APN |
9 |
38,410,769 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0366:Or8b44
|
UTSW |
9 |
38,410,450 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0400:Or8b44
|
UTSW |
9 |
38,410,207 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0726:Or8b44
|
UTSW |
9 |
38,410,418 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1511:Or8b44
|
UTSW |
9 |
38,410,114 (GRCm39) |
missense |
probably benign |
|
|
R1663:Or8b44
|
UTSW |
9 |
38,410,868 (GRCm39) |
missense |
unknown |
|
|
R1763:Or8b44
|
UTSW |
9 |
38,410,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4810:Or8b44
|
UTSW |
9 |
38,410,620 (GRCm39) |
nonsense |
probably null |
|
|
R4851:Or8b44
|
UTSW |
9 |
38,410,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4945:Or8b44
|
UTSW |
9 |
38,410,585 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5535:Or8b44
|
UTSW |
9 |
38,410,294 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5576:Or8b44
|
UTSW |
9 |
38,410,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Or8b44
|
UTSW |
9 |
38,410,036 (GRCm39) |
nonsense |
probably null |
|
|
R5829:Or8b44
|
UTSW |
9 |
38,410,545 (GRCm39) |
nonsense |
probably null |
|
|
R6249:Or8b44
|
UTSW |
9 |
38,410,880 (GRCm39) |
missense |
unknown |
|
|
R6580:Or8b44
|
UTSW |
9 |
38,410,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6611:Or8b44
|
UTSW |
9 |
38,410,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6997:Or8b44
|
UTSW |
9 |
38,410,607 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7407:Or8b44
|
UTSW |
9 |
38,410,800 (GRCm39) |
nonsense |
probably null |
|
|
R7420:Or8b44
|
UTSW |
9 |
38,410,359 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7567:Or8b44
|
UTSW |
9 |
38,410,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8382:Or8b44
|
UTSW |
9 |
38,410,588 (GRCm39) |
missense |
probably damaging |
0.98 |
|
X0028:Or8b44
|
UTSW |
9 |
38,410,386 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGGAACACTATGCCTTTGAG -3'
(R):5'- TTGCAAATGGCCACATAGCG -3'
Sequencing Primer
(F):5'- GGGAACACTATGCCTTTGAGTAATG -3'
(R):5'- GATCATAGGCCATTGTTGTCAGCAC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation