Incidental Mutation 'R1373:Or14j8'
| ID |
157421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or14j8
|
| Ensembl Gene |
ENSMUSG00000109376 |
| Gene Name |
olfactory receptor family 14 subfamily J member 8 |
| Synonyms |
Olfr1552-ps1, MOR218-6P, GA_x6K02T2PSCP-2403971-2403000, Olfr761, MOR218-12, MOR218-5P, MOR218-6P |
| MMRRC Submission |
039437-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.784)
|
| Stock # |
R1373 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
38262942-38263913 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38263251 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 221
(I221M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049620]
|
| AlphaFold |
Q7TRJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049620
AA Change: I221M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092917
Gene: ENSMUSG00000109376
AA Change: I221M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
6.8e-45 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
2.1e-6 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
3.7e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000172723
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 95.2%
|
| Validation Efficiency |
94% (34/36) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamdec1 |
G |
A |
14: 68,808,400 (GRCm39) |
R317C |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,664,392 (GRCm39) |
V1261A |
probably benign |
Het |
| Btla |
G |
A |
16: 45,044,783 (GRCm39) |
G23D |
probably benign |
Het |
| Card19 |
T |
C |
13: 49,357,440 (GRCm39) |
D110G |
probably damaging |
Het |
| Cbx7 |
C |
T |
15: 79,803,074 (GRCm39) |
G160R |
probably damaging |
Het |
| Ccng2 |
C |
T |
5: 93,418,914 (GRCm39) |
|
probably benign |
Het |
| Col4a3 |
G |
A |
1: 82,667,808 (GRCm39) |
|
probably benign |
Het |
| Colgalt2 |
A |
G |
1: 152,348,912 (GRCm39) |
T186A |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,268,583 (GRCm39) |
N1437S |
possibly damaging |
Het |
| Dcaf1 |
A |
G |
9: 106,735,079 (GRCm39) |
I676V |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,314,064 (GRCm39) |
|
probably benign |
Het |
| Dock1 |
T |
C |
7: 134,768,904 (GRCm39) |
S1758P |
probably benign |
Het |
| Furin |
C |
T |
7: 80,041,932 (GRCm39) |
|
probably benign |
Het |
| Ice2 |
G |
A |
9: 69,314,401 (GRCm39) |
R50H |
probably benign |
Het |
| Ifi207 |
T |
A |
1: 173,557,913 (GRCm39) |
D275V |
unknown |
Het |
| Nrxn2 |
C |
T |
19: 6,522,331 (GRCm39) |
T190M |
probably damaging |
Het |
| Odad4 |
T |
C |
11: 100,436,658 (GRCm39) |
F11S |
probably damaging |
Het |
| Or2ag17 |
C |
T |
7: 106,389,963 (GRCm39) |
V82I |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,715,544 (GRCm39) |
L1494P |
probably damaging |
Het |
| Pitrm1 |
G |
T |
13: 6,620,736 (GRCm39) |
M739I |
probably benign |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Sfr1 |
C |
G |
19: 47,723,355 (GRCm39) |
D286E |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,803,374 (GRCm39) |
S1147P |
probably benign |
Het |
| Sry |
C |
G |
Y: 2,662,864 (GRCm39) |
Q265H |
unknown |
Het |
| Tgfbr3 |
T |
C |
5: 107,362,809 (GRCm39) |
I68V |
probably benign |
Het |
| Tpmt |
A |
C |
13: 47,180,734 (GRCm39) |
|
probably null |
Het |
| Trpm5 |
A |
G |
7: 142,640,579 (GRCm39) |
|
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,714,695 (GRCm39) |
T376A |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,859,273 (GRCm39) |
|
probably benign |
Het |
| Vmn1r11 |
G |
A |
6: 57,114,963 (GRCm39) |
C209Y |
probably benign |
Het |
| Vps13c |
A |
T |
9: 67,834,793 (GRCm39) |
K1707N |
probably damaging |
Het |
|
| Other mutations in Or14j8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01557:Or14j8
|
APN |
17 |
38,263,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Or14j8
|
APN |
17 |
38,263,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02431:Or14j8
|
APN |
17 |
38,263,413 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02649:Or14j8
|
APN |
17 |
38,263,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03109:Or14j8
|
APN |
17 |
38,263,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03261:Or14j8
|
APN |
17 |
38,263,697 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R0898:Or14j8
|
UTSW |
17 |
38,263,127 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1527:Or14j8
|
UTSW |
17 |
38,263,720 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1664:Or14j8
|
UTSW |
17 |
38,263,784 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1835:Or14j8
|
UTSW |
17 |
38,263,276 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4124:Or14j8
|
UTSW |
17 |
38,263,681 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4125:Or14j8
|
UTSW |
17 |
38,263,681 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4128:Or14j8
|
UTSW |
17 |
38,263,681 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4534:Or14j8
|
UTSW |
17 |
38,263,613 (GRCm39) |
missense |
probably benign |
|
|
R4557:Or14j8
|
UTSW |
17 |
38,263,142 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4790:Or14j8
|
UTSW |
17 |
38,263,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4856:Or14j8
|
UTSW |
17 |
38,262,962 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4886:Or14j8
|
UTSW |
17 |
38,262,962 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4955:Or14j8
|
UTSW |
17 |
38,263,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5162:Or14j8
|
UTSW |
17 |
38,263,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6016:Or14j8
|
UTSW |
17 |
38,262,967 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6282:Or14j8
|
UTSW |
17 |
38,263,315 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7018:Or14j8
|
UTSW |
17 |
38,263,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7199:Or14j8
|
UTSW |
17 |
38,263,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7340:Or14j8
|
UTSW |
17 |
38,263,413 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7360:Or14j8
|
UTSW |
17 |
38,263,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7464:Or14j8
|
UTSW |
17 |
38,263,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7974:Or14j8
|
UTSW |
17 |
38,263,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Or14j8
|
UTSW |
17 |
38,263,895 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8738:Or14j8
|
UTSW |
17 |
38,263,673 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8817:Or14j8
|
UTSW |
17 |
38,263,273 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8856:Or14j8
|
UTSW |
17 |
38,263,091 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9006:Or14j8
|
UTSW |
17 |
38,263,545 (GRCm39) |
nonsense |
probably null |
|
|
R9432:Or14j8
|
UTSW |
17 |
38,263,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Or14j8
|
UTSW |
17 |
38,263,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGAGGTCTGAAGCAGTTGGTGAG -3'
(R):5'- TTGACAGTTCCCTGGCACGAAG -3'
Sequencing Primer
(F):5'- AAGCAGTTGGTGAGTCTGAG -3'
(R):5'- GCACTATGAGGTCATAATGAGTCCC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation