Incidental Mutation 'R4459:Or14j9'
| ID |
330077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or14j9
|
| Ensembl Gene |
ENSMUSG00000051611 |
| Gene Name |
olfactory receptor family 14 subfamily J member 9 |
| Synonyms |
GA_x6K02T2PSCP-2023769-2022807, Olfr112, MOR218-4, 4930580F03Rik |
| MMRRC Submission |
041579-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
R4459 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
37874031-37880342 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 37874365 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 279
(T279I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150904
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085548]
[ENSMUST00000174798]
[ENSMUST00000208832]
[ENSMUST00000213274]
|
| AlphaFold |
Q8C0S2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085548
AA Change: T279I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082684
Gene: ENSMUSG00000051611
AA Change: T279I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
4.3e-45 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
5.3e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
8.1e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173676
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174798
AA Change: T279I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133654
Gene: ENSMUSG00000051611
AA Change: T279I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
35 |
296 |
3.2e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
8.2e-30 |
PFAM |
|
Pfam:7tm_4
|
139 |
283 |
1.7e-42 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208832
AA Change: T279I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213274
AA Change: T279I
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
C |
T |
14: 118,836,805 (GRCm39) |
R652Q |
probably benign |
Het |
| Anks1b |
G |
A |
10: 90,346,706 (GRCm39) |
V669I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Ash1l |
G |
A |
3: 88,873,541 (GRCm39) |
R108Q |
probably damaging |
Het |
| BC049715 |
G |
A |
6: 136,817,050 (GRCm39) |
A97T |
probably damaging |
Het |
| Cyp11b1 |
T |
A |
15: 74,708,208 (GRCm39) |
E422D |
probably damaging |
Het |
| Dmxl1 |
A |
T |
18: 50,094,283 (GRCm39) |
I2920F |
possibly damaging |
Het |
| Dnaaf6rt |
A |
G |
1: 31,262,405 (GRCm39) |
D129G |
probably damaging |
Het |
| Efcab6 |
C |
T |
15: 83,788,490 (GRCm39) |
G935S |
probably damaging |
Het |
| Esp3 |
C |
G |
17: 40,944,478 (GRCm39) |
T40S |
probably null |
Het |
| Gc |
T |
C |
5: 89,589,146 (GRCm39) |
M206V |
probably benign |
Het |
| Gm15446 |
A |
T |
5: 110,091,107 (GRCm39) |
H453L |
probably benign |
Het |
| Hes6 |
A |
G |
1: 91,340,061 (GRCm39) |
S132P |
probably damaging |
Het |
| Ighg2b |
T |
C |
12: 113,270,578 (GRCm39) |
Y184C |
unknown |
Het |
| Itga2 |
C |
G |
13: 114,980,019 (GRCm39) |
D1061H |
probably damaging |
Het |
| Kcnj5 |
A |
G |
9: 32,233,691 (GRCm39) |
I208T |
probably damaging |
Het |
| Klhl26 |
T |
C |
8: 70,904,194 (GRCm39) |
Y538C |
probably damaging |
Het |
| Letm2 |
A |
G |
8: 26,076,715 (GRCm39) |
C296R |
probably damaging |
Het |
| Lrfn4 |
C |
T |
19: 4,662,662 (GRCm39) |
V452I |
probably benign |
Het |
| Mypn |
A |
G |
10: 63,028,211 (GRCm39) |
V284A |
probably damaging |
Het |
| Or2y1e |
A |
T |
11: 49,218,703 (GRCm39) |
N155I |
probably damaging |
Het |
| Or5aq1 |
T |
C |
2: 86,966,005 (GRCm39) |
H220R |
probably benign |
Het |
| Or8c20 |
T |
A |
9: 38,261,288 (GRCm39) |
V297D |
probably damaging |
Het |
| Pcdhgb6 |
C |
T |
18: 37,875,759 (GRCm39) |
P156S |
probably benign |
Het |
| Pou2f1 |
A |
G |
1: 165,722,575 (GRCm39) |
F337L |
probably damaging |
Het |
| Prl7a2 |
A |
G |
13: 27,849,979 (GRCm39) |
V31A |
probably benign |
Het |
| Rasal2 |
A |
G |
1: 157,003,402 (GRCm39) |
F419S |
possibly damaging |
Het |
| Rmnd5a |
C |
T |
6: 71,373,865 (GRCm39) |
G310R |
probably damaging |
Het |
| Rrm2b |
T |
A |
15: 37,945,397 (GRCm39) |
|
probably null |
Het |
| Smg8 |
T |
C |
11: 86,976,396 (GRCm39) |
D395G |
probably benign |
Het |
| Snx30 |
A |
T |
4: 59,885,022 (GRCm39) |
R221* |
probably null |
Het |
| Tyk2 |
T |
C |
9: 21,035,711 (GRCm39) |
E157G |
probably damaging |
Het |
| Wdr90 |
T |
A |
17: 26,079,976 (GRCm39) |
T120S |
possibly damaging |
Het |
| Zfp747l1 |
A |
G |
7: 126,983,917 (GRCm39) |
L395P |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,821,481 (GRCm39) |
D491E |
probably damaging |
Het |
|
| Other mutations in Or14j9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02270:Or14j9
|
APN |
17 |
37,874,471 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02900:Or14j9
|
APN |
17 |
37,874,740 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03352:Or14j9
|
APN |
17 |
37,874,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0945:Or14j9
|
UTSW |
17 |
37,874,278 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2475:Or14j9
|
UTSW |
17 |
37,874,602 (GRCm39) |
missense |
probably benign |
|
|
R4601:Or14j9
|
UTSW |
17 |
37,875,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5126:Or14j9
|
UTSW |
17 |
37,874,719 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6745:Or14j9
|
UTSW |
17 |
37,874,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7806:Or14j9
|
UTSW |
17 |
37,875,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9309:Or14j9
|
UTSW |
17 |
37,875,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTTGAAGGAATCCCAATGAC -3'
(R):5'- CATGGTTAGTTTCCTGACTGCAG -3'
Sequencing Primer
(F):5'- TCCCAATGACTATAAACATTCTTGTG -3'
(R):5'- ACTGGGATTGTCATCTCCTATG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation