Incidental Mutation 'R3080:Or14j4'
| ID |
265399 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or14j4
|
| Ensembl Gene |
ENSMUSG00000092413 |
| Gene Name |
olfactory receptor family 14 subfamily J member 4 |
| Synonyms |
GA_x6K02T2PSCP-2070203-2069271, MOR218-11P, Olfr115 |
| MMRRC Submission |
040570-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R3080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37920676-37921670 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37921169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 158
(T158A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076936]
[ENSMUST00000221552]
[ENSMUST00000223366]
|
| AlphaFold |
Q7TRJ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076936
AA Change: T160A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000076203
Gene: ENSMUSG00000092413
AA Change: T160A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srv
|
24 |
252 |
2.6e-7 |
PFAM |
|
Pfam:7tm_4
|
31 |
308 |
3.2e-45 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.3e-21 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000133907
Gene: ENSMUSG00000092413
AA Change: T158A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
8.2e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srx
|
32 |
307 |
2.9e-9 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
3.4e-8 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
5.6e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194511
AA Change: T160A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202918
AA Change: T160A
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207850
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000221552
AA Change: T158A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000223366
AA Change: T158A
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
| 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 |
|---|
| Amer3 |
T |
G |
1: 34,627,503 (GRCm39) |
L581V |
probably benign |
Het |
| Anks4b |
A |
T |
7: 119,781,146 (GRCm39) |
D59V |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,262,252 (GRCm39) |
I75T |
probably damaging |
Het |
| Ces1c |
A |
C |
8: 93,846,975 (GRCm39) |
L93R |
probably damaging |
Het |
| Ciao2b |
G |
C |
8: 105,368,259 (GRCm39) |
R22G |
possibly damaging |
Het |
| Clca4a |
T |
A |
3: 144,669,551 (GRCm39) |
K333N |
probably damaging |
Het |
| Copa |
G |
T |
1: 171,940,716 (GRCm39) |
D710Y |
probably damaging |
Het |
| Cyp3a25 |
T |
A |
5: 145,935,341 (GRCm39) |
I92F |
probably benign |
Het |
| Dcx |
T |
A |
X: 142,706,266 (GRCm39) |
D175V |
probably damaging |
Het |
| Fam76b |
G |
A |
9: 13,744,458 (GRCm39) |
G185D |
probably benign |
Het |
| Fastkd5 |
T |
C |
2: 130,457,373 (GRCm39) |
M406V |
possibly damaging |
Het |
| Fbn2 |
G |
A |
18: 58,282,122 (GRCm39) |
S298L |
probably damaging |
Het |
| Gak |
T |
C |
5: 108,761,468 (GRCm39) |
K188E |
possibly damaging |
Het |
| Gemin2 |
G |
A |
12: 59,071,877 (GRCm39) |
C230Y |
probably damaging |
Het |
| Gm5150 |
A |
C |
3: 16,045,085 (GRCm39) |
S47A |
possibly damaging |
Het |
| H3c2 |
A |
G |
13: 23,936,481 (GRCm39) |
H40R |
possibly damaging |
Het |
| Herc3 |
A |
T |
6: 58,833,631 (GRCm39) |
|
probably null |
Het |
| Ighv5-6 |
T |
A |
12: 113,589,237 (GRCm39) |
D81V |
probably damaging |
Het |
| Igkv13-54-1 |
A |
G |
6: 69,594,454 (GRCm39) |
|
probably null |
Het |
| Itgad |
T |
C |
7: 127,784,959 (GRCm39) |
I288T |
possibly damaging |
Het |
| Krt1 |
C |
T |
15: 101,754,622 (GRCm39) |
G543S |
unknown |
Het |
| Ltbp3 |
GTA |
GTATA |
19: 5,806,916 (GRCm39) |
|
probably null |
Het |
| Map4k2 |
G |
A |
19: 6,403,218 (GRCm39) |
E774K |
probably damaging |
Het |
| Mbtps1 |
A |
G |
8: 120,257,944 (GRCm39) |
V431A |
probably benign |
Het |
| Mbtps1 |
T |
C |
8: 120,265,602 (GRCm39) |
D315G |
probably damaging |
Het |
| Nebl |
A |
G |
2: 17,381,462 (GRCm39) |
V738A |
possibly damaging |
Het |
| Npr3 |
G |
C |
15: 11,905,235 (GRCm39) |
T164R |
probably benign |
Het |
| Or6d14 |
T |
G |
6: 116,534,178 (GRCm39) |
V264G |
probably damaging |
Het |
| Pcdhb3 |
T |
G |
18: 37,434,535 (GRCm39) |
L167R |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,489,219 (GRCm39) |
E299V |
probably damaging |
Het |
| Shcbp1l |
A |
G |
1: 153,311,783 (GRCm39) |
E312G |
possibly damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc1a2 |
T |
G |
2: 102,578,901 (GRCm39) |
L272R |
probably damaging |
Het |
| Slc35a5 |
A |
T |
16: 44,964,758 (GRCm39) |
S152T |
probably benign |
Het |
| Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
| Tbr1 |
C |
T |
2: 61,637,635 (GRCm39) |
Q65* |
probably null |
Het |
| Tro |
G |
A |
X: 149,438,198 (GRCm39) |
T153I |
probably benign |
Het |
| Vmn1r222 |
A |
G |
13: 23,416,631 (GRCm39) |
M194T |
possibly damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,997,205 (GRCm39) |
D287G |
probably damaging |
Het |
| Vmn2r91 |
T |
G |
17: 18,355,973 (GRCm39) |
|
probably null |
Het |
| Zfp35 |
T |
A |
18: 24,136,367 (GRCm39) |
I237N |
probably damaging |
Het |
|
| Other mutations in Or14j4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01984:Or14j4
|
APN |
17 |
37,934,552 (GRCm39) |
intron |
probably benign |
|
|
R1132:Or14j4
|
UTSW |
17 |
37,921,333 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1829:Or14j4
|
UTSW |
17 |
37,921,168 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1831:Or14j4
|
UTSW |
17 |
37,920,730 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1872:Or14j4
|
UTSW |
17 |
37,920,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2140:Or14j4
|
UTSW |
17 |
37,921,362 (GRCm39) |
missense |
probably benign |
|
|
R2142:Or14j4
|
UTSW |
17 |
37,921,362 (GRCm39) |
missense |
probably benign |
|
|
R3079:Or14j4
|
UTSW |
17 |
37,921,169 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5250:Or14j4
|
UTSW |
17 |
37,920,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5539:Or14j4
|
UTSW |
17 |
37,921,646 (GRCm39) |
start codon destroyed |
probably benign |
0.00 |
|
R5586:Or14j4
|
UTSW |
17 |
37,921,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5921:Or14j4
|
UTSW |
17 |
37,921,110 (GRCm39) |
nonsense |
probably null |
|
|
R6469:Or14j4
|
UTSW |
17 |
37,921,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6473:Or14j4
|
UTSW |
17 |
37,920,887 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6754:Or14j4
|
UTSW |
17 |
37,921,046 (GRCm39) |
missense |
probably benign |
|
|
R7457:Or14j4
|
UTSW |
17 |
37,921,456 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R7736:Or14j4
|
UTSW |
17 |
37,921,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7814:Or14j4
|
UTSW |
17 |
37,921,547 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8560:Or14j4
|
UTSW |
17 |
37,920,949 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9243:Or14j4
|
UTSW |
17 |
37,921,408 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9308:Or14j4
|
UTSW |
17 |
37,921,246 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9479:Or14j4
|
UTSW |
17 |
37,920,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or14j4
|
UTSW |
17 |
37,920,944 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCCTGAGAACTGTGGAG -3'
(R):5'- TTCTTATGAACAGTGCATGCTG -3'
Sequencing Primer
(F):5'- TCCTGAGAACTGTGGAGAATATGTG -3'
(R):5'- ATGCTGCAGATTCTTTTCTTTACATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation