Incidental Mutation 'R6330:Or14j7'
| ID |
510879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or14j7
|
| Ensembl Gene |
ENSMUSG00000059030 |
| Gene Name |
olfactory receptor family 14 subfamily J member 7 |
| Synonyms |
MOR218-13, GA_x6K02T2PSCP-2374126-2375048, Olfr128 |
| MMRRC Submission |
044484-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.069)
|
| Stock # |
R6330 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
38234459-38235385 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 38234685 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 76
(V76A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151065
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080231]
[ENSMUST00000216440]
|
| AlphaFold |
Q7TRJ1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080231
AA Change: V76A
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000079121
Gene: ENSMUSG00000059030
AA Change: V76A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
308 |
1.3e-46 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
305 |
1.1e-5 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
1.6e-21 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000216440
AA Change: V76A
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (46/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310079G19Rik |
T |
A |
16: 88,423,939 (GRCm39) |
H184L |
probably benign |
Het |
| Ccar1 |
A |
G |
10: 62,600,312 (GRCm39) |
Y540H |
probably damaging |
Het |
| Celf2 |
A |
G |
2: 6,889,766 (GRCm39) |
F2L |
probably benign |
Het |
| Cfap57 |
T |
C |
4: 118,426,593 (GRCm39) |
I1119V |
probably benign |
Het |
| Clec4f |
T |
C |
6: 83,629,850 (GRCm39) |
Q236R |
probably damaging |
Het |
| Cstdc2 |
G |
T |
2: 148,692,745 (GRCm39) |
A19D |
probably damaging |
Het |
| Cyp4a31 |
C |
T |
4: 115,421,074 (GRCm39) |
P54L |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,909,140 (GRCm39) |
V1251A |
probably benign |
Het |
| Dnah7b |
G |
A |
1: 46,379,335 (GRCm39) |
V3690M |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,842,655 (GRCm39) |
M1K |
probably null |
Het |
| Emb |
T |
G |
13: 117,385,666 (GRCm39) |
|
probably null |
Het |
| Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
| F7 |
C |
T |
8: 13,085,140 (GRCm39) |
H389Y |
probably damaging |
Het |
| Fam111a |
T |
A |
19: 12,564,266 (GRCm39) |
I49K |
probably damaging |
Het |
| Fam50b |
T |
G |
13: 34,930,652 (GRCm39) |
S43A |
probably benign |
Het |
| Gbp7 |
A |
T |
3: 142,252,259 (GRCm39) |
Y614F |
probably benign |
Het |
| Gli3 |
T |
A |
13: 15,899,317 (GRCm39) |
D901E |
probably damaging |
Het |
| Hhatl |
C |
T |
9: 121,617,291 (GRCm39) |
|
probably null |
Het |
| Idua |
T |
A |
5: 108,829,574 (GRCm39) |
L432H |
probably benign |
Het |
| Ighv10-3 |
T |
A |
12: 114,487,086 (GRCm39) |
T112S |
possibly damaging |
Het |
| Kcnj6 |
T |
A |
16: 94,563,460 (GRCm39) |
D346V |
possibly damaging |
Het |
| Lrba |
A |
G |
3: 86,255,664 (GRCm39) |
D1002G |
probably benign |
Het |
| Lrrd1 |
T |
A |
5: 3,900,629 (GRCm39) |
S311R |
probably damaging |
Het |
| Mafk |
A |
G |
5: 139,784,948 (GRCm39) |
N4S |
probably benign |
Het |
| Mfsd14b |
T |
C |
13: 65,243,500 (GRCm39) |
Y48C |
probably damaging |
Het |
| Mindy3 |
C |
T |
2: 12,361,744 (GRCm39) |
A333T |
probably damaging |
Het |
| Mlxip |
G |
A |
5: 123,533,015 (GRCm39) |
C8Y |
probably benign |
Het |
| Mthfd1l |
A |
T |
10: 3,930,234 (GRCm39) |
M110L |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,110,136 (GRCm39) |
I212F |
probably benign |
Het |
| Orc2 |
C |
A |
1: 58,539,493 (GRCm39) |
V49L |
probably benign |
Het |
| Pfkp |
C |
T |
13: 6,635,286 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
T |
C |
8: 110,373,541 (GRCm39) |
F1359S |
probably benign |
Het |
| Ralgps1 |
A |
T |
2: 33,064,455 (GRCm39) |
I222N |
probably damaging |
Het |
| Rrad |
T |
G |
8: 105,356,492 (GRCm39) |
E136A |
probably benign |
Het |
| Serpine3 |
T |
C |
14: 62,902,430 (GRCm39) |
S14P |
probably benign |
Het |
| Slc2a12 |
A |
G |
10: 22,540,894 (GRCm39) |
T250A |
probably benign |
Het |
| Slc4a5 |
T |
G |
6: 83,203,356 (GRCm39) |
F85L |
probably benign |
Het |
| Stx18 |
T |
A |
5: 38,284,261 (GRCm39) |
|
probably null |
Het |
| Tbcd |
T |
C |
11: 121,387,912 (GRCm39) |
S348P |
probably benign |
Het |
| Usp9y |
T |
C |
Y: 1,340,123 (GRCm39) |
T1419A |
probably benign |
Homo |
| Vmn2r69 |
T |
C |
7: 85,060,835 (GRCm39) |
S250G |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
| Vwa5b2 |
T |
A |
16: 20,420,727 (GRCm39) |
I846N |
probably damaging |
Het |
| Zfp74 |
A |
T |
7: 29,637,412 (GRCm39) |
Y33N |
probably damaging |
Het |
| Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly damaging |
Het |
|
| Other mutations in Or14j7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01922:Or14j7
|
APN |
17 |
38,234,850 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL01940:Or14j7
|
APN |
17 |
38,235,177 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Or14j7
|
UTSW |
17 |
38,234,520 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0462:Or14j7
|
UTSW |
17 |
38,234,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Or14j7
|
UTSW |
17 |
38,235,229 (GRCm39) |
nonsense |
probably null |
|
|
R0760:Or14j7
|
UTSW |
17 |
38,235,005 (GRCm39) |
nonsense |
probably null |
|
|
R0940:Or14j7
|
UTSW |
17 |
38,234,591 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1898:Or14j7
|
UTSW |
17 |
38,234,516 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1935:Or14j7
|
UTSW |
17 |
38,234,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Or14j7
|
UTSW |
17 |
38,234,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4680:Or14j7
|
UTSW |
17 |
38,234,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5165:Or14j7
|
UTSW |
17 |
38,235,252 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5526:Or14j7
|
UTSW |
17 |
38,235,383 (GRCm39) |
makesense |
probably null |
|
|
R5594:Or14j7
|
UTSW |
17 |
38,234,502 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5751:Or14j7
|
UTSW |
17 |
38,234,861 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7123:Or14j7
|
UTSW |
17 |
38,234,567 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7354:Or14j7
|
UTSW |
17 |
38,235,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7827:Or14j7
|
UTSW |
17 |
38,234,568 (GRCm39) |
nonsense |
probably null |
|
|
R8258:Or14j7
|
UTSW |
17 |
38,234,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8259:Or14j7
|
UTSW |
17 |
38,234,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8686:Or14j7
|
UTSW |
17 |
38,235,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8787:Or14j7
|
UTSW |
17 |
38,235,075 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9036:Or14j7
|
UTSW |
17 |
38,235,168 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9278:Or14j7
|
UTSW |
17 |
38,235,275 (GRCm39) |
missense |
probably benign |
|
|
R9761:Or14j7
|
UTSW |
17 |
38,234,934 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1177:Or14j7
|
UTSW |
17 |
38,234,618 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGATTCCTCCTCATGGGGTTC -3'
(R):5'- CCAAGTGCACTTTCTGGGAC -3'
Sequencing Primer
(F):5'- GGTTCTCTGACAACCATGAGCTG -3'
(R):5'- GGGACTCATTATGACCTCATAGTGC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation