Incidental Mutation 'R5167:Or4f14b'
| ID |
397337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or4f14b
|
| Ensembl Gene |
ENSMUSG00000094747 |
| Gene Name |
olfactory receptor family 4 subfamily F member 14B |
| Synonyms |
GA_x6K02T2Q125-72988111-72987173, MOR245-19P, Olfr1307 |
| MMRRC Submission |
042747-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.118)
|
| Stock # |
R5167 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
111774861-111775799 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 111775447 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 118
(M118K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097201
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099604]
[ENSMUST00000099606]
|
| AlphaFold |
Q7TQX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099604
AA Change: M118K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097199
Gene: ENSMUSG00000094747
AA Change: M118K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
38 |
311 |
1.5e-36 |
PFAM |
|
Pfam:7tm_1
|
49 |
295 |
6.5e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099606
AA Change: M118K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000097201
Gene: ENSMUSG00000094747
AA Change: M118K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
30 |
305 |
2.2e-42 |
PFAM |
|
Pfam:7tm_1
|
41 |
287 |
6.7e-23 |
PFAM |
|
| 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 |
| Or5b117 |
T |
A |
19: 13,431,741 (GRCm39) |
I47F |
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 Or4f14b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01501:Or4f14b
|
APN |
2 |
111,774,863 (GRCm39) |
makesense |
probably null |
|
|
IGL01947:Or4f14b
|
APN |
2 |
111,775,339 (GRCm39) |
missense |
probably benign |
0.26 |
|
IGL02373:Or4f14b
|
APN |
2 |
111,775,178 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02682:Or4f14b
|
APN |
2 |
111,775,285 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0714:Or4f14b
|
UTSW |
2 |
111,774,898 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1670:Or4f14b
|
UTSW |
2 |
111,775,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1730:Or4f14b
|
UTSW |
2 |
111,775,633 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1733:Or4f14b
|
UTSW |
2 |
111,775,625 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1773:Or4f14b
|
UTSW |
2 |
111,775,204 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1783:Or4f14b
|
UTSW |
2 |
111,775,633 (GRCm39) |
missense |
probably benign |
0.45 |
|
R2180:Or4f14b
|
UTSW |
2 |
111,775,348 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2197:Or4f14b
|
UTSW |
2 |
111,775,658 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R2207:Or4f14b
|
UTSW |
2 |
111,775,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2377:Or4f14b
|
UTSW |
2 |
111,774,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4425:Or4f14b
|
UTSW |
2 |
111,775,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4595:Or4f14b
|
UTSW |
2 |
111,774,997 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4859:Or4f14b
|
UTSW |
2 |
111,775,156 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4910:Or4f14b
|
UTSW |
2 |
111,775,423 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5537:Or4f14b
|
UTSW |
2 |
111,775,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6328:Or4f14b
|
UTSW |
2 |
111,775,739 (GRCm39) |
missense |
probably null |
0.41 |
|
R6877:Or4f14b
|
UTSW |
2 |
111,775,184 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7011:Or4f14b
|
UTSW |
2 |
111,775,031 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7177:Or4f14b
|
UTSW |
2 |
111,775,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7937:Or4f14b
|
UTSW |
2 |
111,774,875 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8792:Or4f14b
|
UTSW |
2 |
111,775,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9290:Or4f14b
|
UTSW |
2 |
111,774,967 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9358:Or4f14b
|
UTSW |
2 |
111,775,429 (GRCm39) |
missense |
probably benign |
0.31 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAGAAGCTGTCCAACACATTTG -3'
(R):5'- CGTGTTCACTGTGGCATCTG -3'
Sequencing Primer
(F):5'- ACAAGATGCATGTCCTCG -3'
(R):5'- GTGGCATCTGACCCTCAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation