Incidental Mutation 'R4635:Or5ak23'
| ID |
349425 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5ak23
|
| Ensembl Gene |
ENSMUSG00000075220 |
| Gene Name |
olfactory receptor family 5 subfamily AK member 23 |
| Synonyms |
MOR203-2, Olfr993, GA_x6K02T2Q125-46891524-46890580 |
| MMRRC Submission |
041899-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.299)
|
| Stock # |
R4635 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
85244277-85245221 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 85245208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 5
(N5I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099926]
|
| AlphaFold |
Q8VF75 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099926
AA Change: N5I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000097510
Gene: ENSMUSG00000075220
AA Change: N5I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
3e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
303 |
1.3e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.2e-21 |
PFAM |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (39/40) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
A |
T |
5: 8,764,927 (GRCm39) |
K639I |
probably benign |
Het |
| Amer3 |
C |
A |
1: 34,626,958 (GRCm39) |
T399K |
probably damaging |
Het |
| Arfgef3 |
T |
C |
10: 18,510,603 (GRCm39) |
Y786C |
probably damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,861 (GRCm39) |
Y315C |
probably damaging |
Het |
| Ccdc121 |
G |
A |
5: 31,645,435 (GRCm39) |
R396Q |
probably benign |
Het |
| Chchd6 |
T |
C |
6: 89,444,448 (GRCm39) |
E178G |
probably damaging |
Het |
| Chd3 |
TGCTGCCGCTGCCGC |
TGCTGCCGCTGCCGCTGCCGC |
11: 69,253,013 (GRCm39) |
|
probably benign |
Het |
| Daam1 |
T |
A |
12: 72,005,518 (GRCm39) |
|
probably null |
Het |
| Ddx60 |
A |
G |
8: 62,490,101 (GRCm39) |
E1690G |
probably benign |
Het |
| Eme2 |
G |
T |
17: 25,113,882 (GRCm39) |
P48T |
probably benign |
Het |
| Ferd3l |
T |
C |
12: 33,978,835 (GRCm39) |
M116T |
probably damaging |
Het |
| Gm13141 |
GGTTTCTTGATGCCA |
G |
4: 147,612,561 (GRCm39) |
|
noncoding transcript |
Het |
| Gtf2i |
T |
C |
5: 134,274,028 (GRCm39) |
N727D |
probably damaging |
Het |
| Hao1 |
T |
A |
2: 134,365,072 (GRCm39) |
N185I |
probably damaging |
Het |
| Kifap3 |
C |
T |
1: 163,642,004 (GRCm39) |
T195I |
probably damaging |
Het |
| Mag |
A |
G |
7: 30,606,348 (GRCm39) |
F363S |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,890,175 (GRCm39) |
I135T |
possibly damaging |
Het |
| Muc4 |
T |
C |
16: 32,753,802 (GRCm38) |
I1226T |
probably benign |
Het |
| Nphs1 |
T |
C |
7: 30,167,432 (GRCm39) |
F787L |
probably benign |
Het |
| Nr1h2 |
A |
C |
7: 44,201,961 (GRCm39) |
S42A |
probably benign |
Het |
| Odad4 |
C |
T |
11: 100,442,333 (GRCm39) |
Q164* |
probably null |
Het |
| Or10ag2 |
T |
A |
2: 87,249,043 (GRCm39) |
M217K |
probably benign |
Het |
| Or4a76 |
A |
C |
2: 89,460,516 (GRCm39) |
I242S |
possibly damaging |
Het |
| Or51aa2 |
T |
C |
7: 103,188,355 (GRCm39) |
I29V |
probably benign |
Het |
| Rab38 |
T |
C |
7: 88,099,854 (GRCm39) |
V123A |
probably damaging |
Het |
| Scd1 |
T |
C |
19: 44,395,024 (GRCm39) |
Y67C |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,358,051 (GRCm39) |
N730S |
possibly damaging |
Het |
| Shc2 |
C |
T |
10: 79,462,120 (GRCm39) |
C341Y |
probably benign |
Het |
| Tfdp2 |
T |
A |
9: 96,179,727 (GRCm39) |
N113K |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,234,290 (GRCm39) |
|
probably benign |
Het |
| Top6bl |
A |
G |
19: 4,748,524 (GRCm39) |
|
probably benign |
Het |
| Tox |
A |
T |
4: 6,990,501 (GRCm39) |
|
probably benign |
Het |
| Tspoap1 |
A |
G |
11: 87,668,683 (GRCm39) |
K1319E |
probably benign |
Het |
| Vit |
G |
A |
17: 78,881,641 (GRCm39) |
V135I |
probably benign |
Het |
| Vwa5b1 |
T |
G |
4: 138,338,150 (GRCm39) |
S71R |
possibly damaging |
Het |
|
| Other mutations in Or5ak23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02428:Or5ak23
|
APN |
2 |
85,244,537 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03209:Or5ak23
|
APN |
2 |
85,244,723 (GRCm39) |
missense |
probably benign |
0.05 |
|
BB001:Or5ak23
|
UTSW |
2 |
85,244,563 (GRCm39) |
missense |
probably benign |
0.06 |
|
BB011:Or5ak23
|
UTSW |
2 |
85,244,563 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0591:Or5ak23
|
UTSW |
2 |
85,245,034 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1437:Or5ak23
|
UTSW |
2 |
85,245,218 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1836:Or5ak23
|
UTSW |
2 |
85,244,749 (GRCm39) |
missense |
probably benign |
0.36 |
|
R2084:Or5ak23
|
UTSW |
2 |
85,244,959 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2902:Or5ak23
|
UTSW |
2 |
85,244,396 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2910:Or5ak23
|
UTSW |
2 |
85,244,695 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3961:Or5ak23
|
UTSW |
2 |
85,245,216 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4542:Or5ak23
|
UTSW |
2 |
85,244,287 (GRCm39) |
missense |
probably benign |
|
|
R5464:Or5ak23
|
UTSW |
2 |
85,245,057 (GRCm39) |
frame shift |
probably null |
|
|
R5980:Or5ak23
|
UTSW |
2 |
85,244,509 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6139:Or5ak23
|
UTSW |
2 |
85,244,690 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6356:Or5ak23
|
UTSW |
2 |
85,245,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6619:Or5ak23
|
UTSW |
2 |
85,244,425 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6672:Or5ak23
|
UTSW |
2 |
85,244,948 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7326:Or5ak23
|
UTSW |
2 |
85,244,788 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7328:Or5ak23
|
UTSW |
2 |
85,244,668 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7569:Or5ak23
|
UTSW |
2 |
85,244,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7924:Or5ak23
|
UTSW |
2 |
85,244,563 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9178:Or5ak23
|
UTSW |
2 |
85,244,848 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9363:Or5ak23
|
UTSW |
2 |
85,244,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or5ak23
|
UTSW |
2 |
85,245,029 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1176:Or5ak23
|
UTSW |
2 |
85,245,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAACAAAGGCCAGATGTTGTAG -3'
(R):5'- TGTGGTCTTTTGAGTATAGAGCACA -3'
Sequencing Primer
(F):5'- CCAGATGTTGTAGGAAGAAGTACATG -3'
(R):5'- GCACATTATCTGTAAATAGGGA -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation