Incidental Mutation 'R5167:Or5b117'
| ID |
397371 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or5b117
|
| Ensembl Gene |
ENSMUSG00000095189 |
| Gene Name |
olfactory receptor family 5 subfamily B member 117 |
| Synonyms |
Olfr1472, GA_x6K02T2RE5P-3787124-3786180, MOR202-16 |
| MMRRC Submission |
042747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.143)
|
| Stock # |
R5167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
13430935-13431879 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 13431741 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 47
(I47F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093915
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077501]
[ENSMUST00000096201]
|
| AlphaFold |
Q7TQQ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077501
AA Change: I47F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000076707
Gene: ENSMUSG00000095189
AA Change: I47F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
29 |
306 |
2.4e-51 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
33 |
303 |
5.2e-8 |
PFAM |
|
Pfam:7tm_1
|
39 |
288 |
6.9e-20 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096201
AA Change: I47F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000093915
Gene: ENSMUSG00000095189
AA Change: I47F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
306 |
3.9e-53 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
34 |
304 |
2.6e-6 |
PFAM |
|
Pfam:7tm_1
|
40 |
289 |
1.2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213561
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (38/39) |
| 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 |
|---|
| Abcb1b |
T |
A |
5: 8,862,656 (GRCm39) |
Y113N |
probably damaging |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Calm3 |
T |
C |
7: 16,651,626 (GRCm39) |
D21G |
probably damaging |
Het |
| Cldn23 |
C |
T |
8: 36,293,474 (GRCm39) |
V5M |
possibly damaging |
Het |
| D630003M21Rik |
A |
G |
2: 158,047,665 (GRCm39) |
S735P |
probably damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,628,730 (GRCm39) |
Y1095H |
probably damaging |
Het |
| Esr2 |
T |
C |
12: 76,170,048 (GRCm39) |
T427A |
probably benign |
Het |
| Fbxo28 |
T |
C |
1: 182,145,558 (GRCm39) |
I177V |
possibly damaging |
Het |
| Fubp1 |
T |
C |
3: 151,926,989 (GRCm39) |
L372P |
possibly damaging |
Het |
| Glis1 |
G |
A |
4: 107,491,891 (GRCm39) |
G585E |
probably damaging |
Het |
| Gm7258 |
T |
C |
7: 128,197,791 (GRCm39) |
|
noncoding transcript |
Het |
| Hecw1 |
C |
T |
13: 14,460,242 (GRCm39) |
R613Q |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,010,384 (GRCm39) |
S1228P |
probably damaging |
Het |
| Knl1 |
A |
G |
2: 118,900,512 (GRCm39) |
I738V |
probably damaging |
Het |
| Lig1 |
T |
A |
7: 13,044,983 (GRCm39) |
V892D |
probably damaging |
Het |
| Lvrn |
T |
A |
18: 47,013,814 (GRCm39) |
Y499N |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,432,773 (GRCm39) |
W80L |
probably damaging |
Het |
| Lypd5 |
T |
C |
7: 24,051,889 (GRCm39) |
V68A |
possibly damaging |
Het |
| Ngdn |
C |
T |
14: 55,259,656 (GRCm39) |
Q236* |
probably null |
Het |
| Nudt7 |
C |
A |
8: 114,878,567 (GRCm39) |
C154* |
probably null |
Het |
| Obi1 |
A |
G |
14: 104,716,223 (GRCm39) |
S717P |
probably damaging |
Het |
| Or14j10 |
C |
A |
17: 37,934,642 (GRCm39) |
E295* |
probably null |
Het |
| Or4f14b |
A |
T |
2: 111,775,447 (GRCm39) |
M118K |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
| Pcnt |
G |
T |
10: 76,256,258 (GRCm39) |
Q661K |
probably damaging |
Het |
| Plekha1 |
G |
A |
7: 130,487,179 (GRCm39) |
|
probably null |
Het |
| Polr1c |
G |
T |
17: 46,558,635 (GRCm39) |
|
probably benign |
Het |
| Rac3 |
A |
G |
11: 120,613,421 (GRCm39) |
D58G |
probably null |
Het |
| Rgl2 |
C |
T |
17: 34,154,948 (GRCm39) |
R203* |
probably null |
Het |
| Ryr1 |
T |
C |
7: 28,767,118 (GRCm39) |
D2948G |
probably damaging |
Het |
| Serpina12 |
A |
T |
12: 104,004,179 (GRCm39) |
L151Q |
probably damaging |
Het |
| Sf3a1 |
T |
C |
11: 4,127,456 (GRCm39) |
V594A |
possibly damaging |
Het |
| Spdl1 |
G |
T |
11: 34,704,187 (GRCm39) |
H549N |
possibly damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,112,453 (GRCm39) |
T198A |
possibly damaging |
Het |
|
| Other mutations in Or5b117 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Or5b117
|
APN |
19 |
13,431,204 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL01755:Or5b117
|
APN |
19 |
13,431,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01885:Or5b117
|
APN |
19 |
13,431,449 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02366:Or5b117
|
APN |
19 |
13,431,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03074:Or5b117
|
APN |
19 |
13,431,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0592:Or5b117
|
UTSW |
19 |
13,431,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1085:Or5b117
|
UTSW |
19 |
13,431,594 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4207:Or5b117
|
UTSW |
19 |
13,431,835 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4856:Or5b117
|
UTSW |
19 |
13,431,885 (GRCm39) |
splice site |
probably null |
|
|
R4886:Or5b117
|
UTSW |
19 |
13,431,885 (GRCm39) |
splice site |
probably null |
|
|
R5061:Or5b117
|
UTSW |
19 |
13,431,349 (GRCm39) |
nonsense |
probably null |
|
|
R5509:Or5b117
|
UTSW |
19 |
13,431,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Or5b117
|
UTSW |
19 |
13,431,746 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5987:Or5b117
|
UTSW |
19 |
13,431,324 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6631:Or5b117
|
UTSW |
19 |
13,431,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7976:Or5b117
|
UTSW |
19 |
13,431,563 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCACACTGCTGCATGAC -3'
(R):5'- CTAGGAACTTGTCATGATAATTGCC -3'
Sequencing Primer
(F):5'- ACTGCTGCATGACGGTCATAG -3'
(R):5'- ACTTGTCATGATAATTGCCAAATAAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation