Incidental Mutation 'R4199:Or1i2'
| ID |
318682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or1i2
|
| Ensembl Gene |
ENSMUSG00000071185 |
| Gene Name |
olfactory receptor family 1 subfamily I member 1 |
| Synonyms |
GA_x6K02T2QGN0-3196801-3197742, MOR128-3, MOR128-4, Olfr1357 |
| MMRRC Submission |
041029-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R4199 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
78447503-78453908 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 78447901 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 191
(D191E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095473]
[ENSMUST00000203305]
[ENSMUST00000205085]
[ENSMUST00000213877]
|
| AlphaFold |
Q7TQU7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095473
AA Change: D191E
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000093127
Gene: ENSMUSG00000071185
AA Change: D191E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.7e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
215 |
2e-11 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.6e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000203305
AA Change: D191E
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145032
Gene: ENSMUSG00000071185
AA Change: D191E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
235 |
1.3e-36 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
215 |
7.7e-11 |
PFAM |
|
Pfam:7tm_1
|
41 |
234 |
3.4e-25 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205085
AA Change: D191E
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145185
Gene: ENSMUSG00000071185
AA Change: D191E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
307 |
1.7e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
215 |
2e-11 |
PFAM |
|
Pfam:7tm_1
|
41 |
290 |
2.6e-24 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213877
AA Change: D191E
PolyPhen 2
Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| 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 |
|---|
| Ankhd1 |
C |
G |
18: 36,794,101 (GRCm39) |
|
probably benign |
Het |
| Cbarp |
G |
T |
10: 79,971,326 (GRCm39) |
H173Q |
probably damaging |
Het |
| Ccna1 |
G |
A |
3: 54,954,736 (GRCm39) |
A177V |
possibly damaging |
Het |
| Ces1f |
A |
G |
8: 93,983,517 (GRCm39) |
F497L |
probably benign |
Het |
| Cic |
TCCCCC |
TCCCCCCC |
7: 24,991,095 (GRCm39) |
|
probably null |
Het |
| Disc1 |
C |
T |
8: 125,875,198 (GRCm39) |
T556I |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Dnmt1 |
A |
G |
9: 20,849,414 (GRCm39) |
S63P |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,913,364 (GRCm39) |
A121T |
probably benign |
Het |
| Eps8 |
T |
C |
6: 137,491,325 (GRCm39) |
N351S |
probably damaging |
Het |
| Fbxo34 |
T |
A |
14: 47,768,454 (GRCm39) |
W605R |
probably damaging |
Het |
| Foxg1 |
T |
A |
12: 49,432,082 (GRCm39) |
S272T |
possibly damaging |
Het |
| Gal3st3 |
T |
A |
19: 5,357,808 (GRCm39) |
Y394* |
probably null |
Het |
| Gga1 |
A |
G |
15: 78,773,275 (GRCm39) |
E301G |
probably damaging |
Het |
| Ifitm5 |
T |
A |
7: 140,529,149 (GRCm39) |
*153Y |
probably null |
Het |
| Ighg2b |
G |
T |
12: 113,270,907 (GRCm39) |
P110Q |
probably damaging |
Het |
| Il17rb |
C |
T |
14: 29,718,601 (GRCm39) |
D494N |
probably benign |
Het |
| Irf2bp2 |
C |
A |
8: 127,318,313 (GRCm39) |
A418S |
probably damaging |
Het |
| Lcn9 |
A |
G |
2: 25,714,773 (GRCm39) |
T171A |
probably benign |
Het |
| Lcorl |
T |
C |
5: 45,891,130 (GRCm39) |
K408E |
possibly damaging |
Het |
| Myh14 |
T |
A |
7: 44,264,927 (GRCm39) |
R1653* |
probably null |
Het |
| Naa16 |
A |
T |
14: 79,593,311 (GRCm39) |
H420Q |
probably damaging |
Het |
| Nol8 |
T |
A |
13: 49,815,224 (GRCm39) |
V426E |
possibly damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Papln |
C |
T |
12: 83,830,166 (GRCm39) |
T1012I |
probably null |
Het |
| Pkd1 |
A |
G |
17: 24,789,004 (GRCm39) |
T921A |
probably benign |
Het |
| Pknox1 |
C |
A |
17: 31,821,790 (GRCm39) |
Q294K |
probably damaging |
Het |
| Ppp2ca |
A |
G |
11: 51,989,928 (GRCm39) |
N18S |
probably benign |
Het |
| Serpinb9d |
A |
G |
13: 33,386,657 (GRCm39) |
|
probably null |
Het |
| Sfxn5 |
T |
A |
6: 85,192,724 (GRCm39) |
E319V |
probably benign |
Het |
| Slc1a1 |
A |
G |
19: 28,878,852 (GRCm39) |
K197R |
probably benign |
Het |
| Spef2 |
A |
G |
15: 9,667,366 (GRCm39) |
F774S |
probably damaging |
Het |
| Syp |
A |
G |
X: 7,506,166 (GRCm39) |
|
probably null |
Het |
| Zfp276 |
A |
G |
8: 123,994,564 (GRCm39) |
T544A |
probably damaging |
Het |
|
| Other mutations in Or1i2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01609:Or1i2
|
APN |
10 |
78,447,960 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02201:Or1i2
|
APN |
10 |
78,448,104 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03029:Or1i2
|
APN |
10 |
78,447,792 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL03094:Or1i2
|
APN |
10 |
78,447,953 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0207:Or1i2
|
UTSW |
10 |
78,447,705 (GRCm39) |
missense |
probably benign |
|
|
R0563:Or1i2
|
UTSW |
10 |
78,448,467 (GRCm39) |
missense |
probably benign |
|
|
R0745:Or1i2
|
UTSW |
10 |
78,447,956 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1607:Or1i2
|
UTSW |
10 |
78,447,974 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2419:Or1i2
|
UTSW |
10 |
78,448,221 (GRCm39) |
missense |
probably benign |
0.34 |
|
R4198:Or1i2
|
UTSW |
10 |
78,447,901 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4200:Or1i2
|
UTSW |
10 |
78,447,901 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R4619:Or1i2
|
UTSW |
10 |
78,448,409 (GRCm39) |
missense |
probably benign |
|
|
R6152:Or1i2
|
UTSW |
10 |
78,448,409 (GRCm39) |
missense |
probably benign |
|
|
R6836:Or1i2
|
UTSW |
10 |
78,448,424 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Or1i2
|
UTSW |
10 |
78,447,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7266:Or1i2
|
UTSW |
10 |
78,448,448 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8104:Or1i2
|
UTSW |
10 |
78,448,242 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8765:Or1i2
|
UTSW |
10 |
78,448,429 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8795:Or1i2
|
UTSW |
10 |
78,447,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8806:Or1i2
|
UTSW |
10 |
78,447,974 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8842:Or1i2
|
UTSW |
10 |
78,447,635 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9640:Or1i2
|
UTSW |
10 |
78,448,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9678:Or1i2
|
UTSW |
10 |
78,447,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Or1i2
|
UTSW |
10 |
78,447,890 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Or1i2
|
UTSW |
10 |
78,447,985 (GRCm39) |
missense |
probably benign |
0.40 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCGTAGAACAGTGACACC -3'
(R):5'- AGTGATGGCCATTGACAGG -3'
Sequencing Primer
(F):5'- ACTGCCCTGAAAATGCAG -3'
(R):5'- CGCTACTCAGTGCTCATGAG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation