Incidental Mutation 'R5724:Or5b113'
| ID |
452409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b113
|
| Ensembl Gene |
ENSMUSG00000049015 |
| Gene Name |
olfactory receptor family 5 subfamily B member 113 |
| Synonyms |
GA_x6K02T2RE5P-3695694-3696620, Olfr1467, MOR202-15 |
| MMRRC Submission |
043342-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.091)
|
| Stock # |
R5724 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
13341994-13342920 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13342515 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 174
(H174Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149487
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000054687]
[ENSMUST00000215096]
|
| AlphaFold |
Q8VFW1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000054687
AA Change: H174Q
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000061580
Gene: ENSMUSG00000049015
AA Change: H174Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
307 |
6.6e-48 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
7.4e-20 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000215096
AA Change: H174Q
PolyPhen 2
Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.5251 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3830408C21Rik |
A |
T |
13: 107,168,905 (GRCm39) |
|
noncoding transcript |
Het |
| Adam5 |
T |
A |
8: 25,294,511 (GRCm39) |
K363* |
probably null |
Het |
| Adamts12 |
T |
C |
15: 11,286,836 (GRCm39) |
Y814H |
probably benign |
Het |
| Adar |
G |
T |
3: 89,642,476 (GRCm39) |
G119V |
probably benign |
Het |
| Adprs |
G |
T |
4: 126,211,869 (GRCm39) |
Q148K |
probably damaging |
Het |
| Atr |
G |
T |
9: 95,748,641 (GRCm39) |
L395F |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,176,192 (GRCm39) |
I1946V |
possibly damaging |
Het |
| Bend4 |
T |
A |
5: 67,575,284 (GRCm39) |
D199V |
probably damaging |
Het |
| Bpifb1 |
C |
A |
2: 154,046,712 (GRCm39) |
H77Q |
probably benign |
Het |
| Clca3a1 |
T |
C |
3: 144,714,833 (GRCm39) |
T595A |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,905,499 (GRCm39) |
|
probably benign |
Het |
| Cxcl16 |
T |
C |
11: 70,349,990 (GRCm39) |
D12G |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,819,090 (GRCm39) |
W459R |
probably benign |
Het |
| Dock8 |
T |
C |
19: 25,099,785 (GRCm39) |
L636P |
probably damaging |
Het |
| Eif2ak3 |
A |
G |
6: 70,853,824 (GRCm39) |
T197A |
probably benign |
Het |
| Fbxo40 |
T |
A |
16: 36,790,692 (GRCm39) |
R139S |
probably benign |
Het |
| Fer |
C |
A |
17: 64,231,152 (GRCm39) |
T301K |
probably damaging |
Het |
| Fgf21 |
A |
T |
7: 45,264,729 (GRCm39) |
M1K |
probably null |
Het |
| Gm11677 |
C |
T |
11: 111,615,537 (GRCm39) |
|
noncoding transcript |
Het |
| Gm38706 |
A |
T |
6: 130,459,963 (GRCm39) |
|
noncoding transcript |
Het |
| H2-Q6 |
A |
C |
17: 35,644,628 (GRCm39) |
Y139S |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,808,074 (GRCm39) |
D146G |
probably benign |
Het |
| Igkv4-53 |
A |
T |
6: 69,625,991 (GRCm39) |
Y59N |
probably damaging |
Het |
| Jrkl |
T |
C |
9: 13,244,891 (GRCm39) |
M257V |
possibly damaging |
Het |
| Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
| Klhl26 |
T |
A |
8: 70,904,404 (GRCm39) |
Y468F |
probably damaging |
Het |
| Lamb2 |
T |
A |
9: 108,357,950 (GRCm39) |
|
probably null |
Het |
| Lcp1 |
A |
G |
14: 75,464,422 (GRCm39) |
T548A |
probably benign |
Het |
| Lct |
T |
A |
1: 128,228,073 (GRCm39) |
Q1140L |
probably benign |
Het |
| Lrp2 |
T |
G |
2: 69,281,726 (GRCm39) |
N3882H |
probably damaging |
Het |
| Magi1 |
A |
G |
6: 93,657,852 (GRCm39) |
I1126T |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,722,682 (GRCm39) |
S399P |
probably damaging |
Het |
| Med16 |
A |
G |
10: 79,731,243 (GRCm39) |
C825R |
probably damaging |
Het |
| Mtx3 |
C |
T |
13: 92,984,095 (GRCm39) |
P124L |
probably damaging |
Het |
| Nabp2 |
C |
T |
10: 128,245,555 (GRCm39) |
|
probably benign |
Het |
| Pak4 |
A |
T |
7: 28,264,005 (GRCm39) |
S244T |
possibly damaging |
Het |
| Pccb |
C |
T |
9: 100,869,900 (GRCm39) |
V307I |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,874,233 (GRCm39) |
D506G |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,755,481 (GRCm39) |
V26A |
probably damaging |
Het |
| Ppp2r3c |
A |
T |
12: 55,344,617 (GRCm39) |
M117K |
probably benign |
Het |
| Pramel21 |
A |
G |
4: 143,344,026 (GRCm39) |
D442G |
probably benign |
Het |
| Pspc1 |
C |
T |
14: 57,015,529 (GRCm39) |
E30K |
probably benign |
Het |
| Reps1 |
A |
G |
10: 17,990,231 (GRCm39) |
S448G |
possibly damaging |
Het |
| Rnf34 |
C |
T |
5: 123,004,952 (GRCm39) |
Q241* |
probably null |
Het |
| Sgta |
A |
T |
10: 80,883,522 (GRCm39) |
|
probably null |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Siglech |
A |
G |
7: 55,418,293 (GRCm39) |
N87S |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,094,113 (GRCm39) |
I392T |
possibly damaging |
Het |
| St18 |
T |
A |
1: 6,841,174 (GRCm39) |
M21K |
probably benign |
Het |
| Sugp1 |
C |
T |
8: 70,522,799 (GRCm39) |
R500C |
probably damaging |
Het |
| Tasp1 |
T |
C |
2: 139,899,339 (GRCm39) |
K5E |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,813,668 (GRCm39) |
V235I |
possibly damaging |
Het |
| Toporsl |
A |
T |
4: 52,611,346 (GRCm39) |
N413I |
probably damaging |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Zfp60 |
A |
G |
7: 27,447,758 (GRCm39) |
Y142C |
probably benign |
Het |
|
| Other mutations in Or5b113 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00936:Or5b113
|
APN |
19 |
13,341,988 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL01109:Or5b113
|
APN |
19 |
13,342,063 (GRCm39) |
missense |
probably benign |
|
|
IGL01939:Or5b113
|
APN |
19 |
13,342,807 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02188:Or5b113
|
APN |
19 |
13,342,643 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02188:Or5b113
|
APN |
19 |
13,342,396 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03223:Or5b113
|
APN |
19 |
13,342,645 (GRCm39) |
missense |
probably benign |
|
|
R0456:Or5b113
|
UTSW |
19 |
13,342,102 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1066:Or5b113
|
UTSW |
19 |
13,342,451 (GRCm39) |
missense |
probably benign |
|
|
R1189:Or5b113
|
UTSW |
19 |
13,342,543 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1668:Or5b113
|
UTSW |
19 |
13,342,234 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1754:Or5b113
|
UTSW |
19 |
13,342,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1860:Or5b113
|
UTSW |
19 |
13,342,705 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R1861:Or5b113
|
UTSW |
19 |
13,342,705 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2181:Or5b113
|
UTSW |
19 |
13,342,438 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2219:Or5b113
|
UTSW |
19 |
13,342,901 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R2516:Or5b113
|
UTSW |
19 |
13,342,557 (GRCm39) |
nonsense |
probably null |
|
|
R4757:Or5b113
|
UTSW |
19 |
13,342,810 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5206:Or5b113
|
UTSW |
19 |
13,342,429 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5376:Or5b113
|
UTSW |
19 |
13,342,762 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5647:Or5b113
|
UTSW |
19 |
13,342,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5741:Or5b113
|
UTSW |
19 |
13,342,847 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5906:Or5b113
|
UTSW |
19 |
13,342,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6636:Or5b113
|
UTSW |
19 |
13,342,589 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6637:Or5b113
|
UTSW |
19 |
13,342,589 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7000:Or5b113
|
UTSW |
19 |
13,341,987 (GRCm39) |
start gained |
probably benign |
|
|
R7254:Or5b113
|
UTSW |
19 |
13,342,475 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7325:Or5b113
|
UTSW |
19 |
13,342,001 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7773:Or5b113
|
UTSW |
19 |
13,342,598 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7828:Or5b113
|
UTSW |
19 |
13,342,510 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9081:Or5b113
|
UTSW |
19 |
13,342,019 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9135:Or5b113
|
UTSW |
19 |
13,342,755 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9151:Or5b113
|
UTSW |
19 |
13,342,222 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9470:Or5b113
|
UTSW |
19 |
13,342,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9792:Or5b113
|
UTSW |
19 |
13,342,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9793:Or5b113
|
UTSW |
19 |
13,342,514 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Or5b113
|
UTSW |
19 |
13,342,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or5b113
|
UTSW |
19 |
13,342,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGGAGAATTACCTGTTGG -3'
(R):5'- AGGCACAGGTGGATATAGCC -3'
Sequencing Primer
(F):5'- GAGAATTACCTGTTGGCCTCAATG -3'
(R):5'- ATATAGCCTTGTGATGTCCTGCAGC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation