Incidental Mutation 'R5035:Or1j19'
| ID |
389486 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1j19
|
| Ensembl Gene |
ENSMUSG00000049315 |
| Gene Name |
olfactory receptor family 1 subfamily J member 19 |
| Synonyms |
GA_x6K02T2NLDC-33481050-33481991, Olfr348, MOR136-8 |
| MMRRC Submission |
042626-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R5035 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
36676539-36677480 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 36676903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 122
(D122G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150343
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056865]
[ENSMUST00000112950]
[ENSMUST00000213498]
[ENSMUST00000214909]
[ENSMUST00000215199]
[ENSMUST00000216753]
[ENSMUST00000217041]
|
| AlphaFold |
Q8VGK3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000056865
AA Change: D122G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054037
Gene: ENSMUSG00000049315
AA Change: D122G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
32 |
309 |
1.3e-56 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
36 |
306 |
3e-6 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
2.7e-24 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000112950
AA Change: D122G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000108572
Gene: ENSMUSG00000111021
AA Change: D122G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
36 |
306 |
3e-6 |
PFAM |
|
Pfam:7tm_1
|
42 |
291 |
3.5e-34 |
PFAM |
|
Pfam:7tm_4
|
140 |
284 |
3.9e-40 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213498
AA Change: D122G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000214909
AA Change: D122G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000215199
AA Change: D122G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000216753
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217041
|
| Meta Mutation Damage Score |
0.5929 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat1 |
T |
C |
9: 53,494,810 (GRCm39) |
I361V |
probably benign |
Het |
| Afp |
A |
G |
5: 90,655,764 (GRCm39) |
D583G |
probably benign |
Het |
| Bcas3 |
C |
T |
11: 85,434,771 (GRCm39) |
A552V |
probably damaging |
Het |
| Bfsp2 |
T |
G |
9: 103,357,065 (GRCm39) |
T121P |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,713,349 (GRCm39) |
R951Q |
possibly damaging |
Het |
| Cdc40 |
G |
A |
10: 40,725,809 (GRCm39) |
T220I |
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,806,911 (GRCm39) |
|
probably benign |
Het |
| Clcnka |
A |
T |
4: 141,122,469 (GRCm39) |
Y179* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,817,431 (GRCm39) |
I361F |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,454,175 (GRCm39) |
Y3557C |
probably damaging |
Het |
| Dab2ip |
A |
G |
2: 35,599,953 (GRCm39) |
S190G |
probably benign |
Het |
| Dbx1 |
T |
C |
7: 49,282,284 (GRCm39) |
H307R |
unknown |
Het |
| Dock8 |
C |
A |
19: 25,063,571 (GRCm39) |
P258T |
probably damaging |
Het |
| Eml6 |
T |
C |
11: 29,804,187 (GRCm39) |
I305V |
probably benign |
Het |
| Frem3 |
T |
A |
8: 81,342,543 (GRCm39) |
F1612Y |
probably damaging |
Het |
| Fubp1 |
A |
G |
3: 151,920,488 (GRCm39) |
T76A |
probably benign |
Het |
| Glmp |
G |
C |
3: 88,233,951 (GRCm39) |
|
probably benign |
Het |
| Gm20918 |
A |
G |
Y: 5,045,992 (GRCm39) |
Q183R |
probably benign |
Het |
| Krt28 |
T |
C |
11: 99,257,650 (GRCm39) |
N397S |
probably benign |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,740,421 (GRCm39) |
Y583H |
probably benign |
Het |
| Mcm3 |
A |
T |
1: 20,873,642 (GRCm39) |
|
probably benign |
Het |
| Misp |
T |
C |
10: 79,663,790 (GRCm39) |
V588A |
probably benign |
Het |
| Or2z9 |
T |
A |
8: 72,853,922 (GRCm39) |
L106H |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,648,443 (GRCm39) |
K309N |
probably benign |
Het |
| Or51a43 |
G |
A |
7: 103,717,614 (GRCm39) |
T208I |
possibly damaging |
Het |
| Or8g37 |
G |
A |
9: 39,731,390 (GRCm39) |
A152T |
possibly damaging |
Het |
| Osbpl9 |
A |
G |
4: 108,923,364 (GRCm39) |
F449L |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,431,720 (GRCm39) |
D3358G |
probably damaging |
Het |
| Prodh2 |
A |
T |
7: 30,205,904 (GRCm39) |
S247C |
possibly damaging |
Het |
| Prr23a3 |
G |
A |
9: 98,747,183 (GRCm39) |
E46K |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,016,214 (GRCm39) |
I837V |
probably benign |
Het |
| Rabgap1l |
A |
C |
1: 160,551,606 (GRCm39) |
F263V |
probably damaging |
Het |
| Rnf4 |
A |
G |
5: 34,508,683 (GRCm39) |
K182E |
probably damaging |
Het |
| Slc24a2 |
G |
T |
4: 86,929,943 (GRCm39) |
R469S |
possibly damaging |
Het |
| Speer2 |
A |
G |
16: 69,654,829 (GRCm39) |
|
probably null |
Het |
| Tg |
C |
A |
15: 66,553,662 (GRCm39) |
|
probably null |
Het |
| Tns1 |
G |
A |
1: 73,992,979 (GRCm39) |
|
probably benign |
Het |
| Top2b |
G |
T |
14: 16,409,966 (GRCm38) |
A878S |
probably benign |
Het |
| Trgc4 |
G |
T |
13: 19,536,506 (GRCm39) |
R188L |
unknown |
Het |
| Ugt3a1 |
G |
A |
15: 9,361,704 (GRCm39) |
R160Q |
probably benign |
Het |
| Ush2a |
G |
T |
1: 188,643,005 (GRCm39) |
L4122F |
probably damaging |
Het |
|
| Other mutations in Or1j19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01388:Or1j19
|
APN |
2 |
36,677,367 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01943:Or1j19
|
APN |
2 |
36,677,095 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02030:Or1j19
|
APN |
2 |
36,677,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02338:Or1j19
|
APN |
2 |
36,676,557 (GRCm39) |
nonsense |
probably null |
|
|
IGL02349:Or1j19
|
APN |
2 |
36,677,058 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02695:Or1j19
|
APN |
2 |
36,677,332 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03004:Or1j19
|
APN |
2 |
36,677,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03007:Or1j19
|
APN |
2 |
36,676,812 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03024:Or1j19
|
APN |
2 |
36,676,858 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R0360:Or1j19
|
UTSW |
2 |
36,677,452 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0388:Or1j19
|
UTSW |
2 |
36,676,874 (GRCm39) |
missense |
probably benign |
0.43 |
|
R0614:Or1j19
|
UTSW |
2 |
36,676,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1498:Or1j19
|
UTSW |
2 |
36,677,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1562:Or1j19
|
UTSW |
2 |
36,676,696 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2882:Or1j19
|
UTSW |
2 |
36,677,202 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3731:Or1j19
|
UTSW |
2 |
36,676,578 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4513:Or1j19
|
UTSW |
2 |
36,676,782 (GRCm39) |
missense |
probably benign |
0.05 |
|
R4899:Or1j19
|
UTSW |
2 |
36,676,810 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5005:Or1j19
|
UTSW |
2 |
36,677,370 (GRCm39) |
missense |
probably benign |
|
|
R5490:Or1j19
|
UTSW |
2 |
36,677,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6361:Or1j19
|
UTSW |
2 |
36,676,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7762:Or1j19
|
UTSW |
2 |
36,677,022 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8109:Or1j19
|
UTSW |
2 |
36,676,618 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8223:Or1j19
|
UTSW |
2 |
36,677,409 (GRCm39) |
missense |
|
|
|
R8826:Or1j19
|
UTSW |
2 |
36,676,855 (GRCm39) |
nonsense |
probably null |
|
|
R8906:Or1j19
|
UTSW |
2 |
36,676,621 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9138:Or1j19
|
UTSW |
2 |
36,676,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9147:Or1j19
|
UTSW |
2 |
36,676,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9148:Or1j19
|
UTSW |
2 |
36,676,938 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9267:Or1j19
|
UTSW |
2 |
36,676,530 (GRCm39) |
unclassified |
probably benign |
|
|
R9306:Or1j19
|
UTSW |
2 |
36,677,407 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTGGCCTTCACAGACATC -3'
(R):5'- CAAGCTCATTGATGGAGGTATCTG -3'
Sequencing Primer
(F):5'- AGACATCTCTTTCTCATCAGTCACAG -3'
(R):5'- GCTTAATTAAGGCAGACAAGTCAC -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation