Incidental Mutation 'R1108:Or7e174'
| ID |
98558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or7e174
|
| Ensembl Gene |
ENSMUSG00000044106 |
| Gene Name |
olfactory receptor family 7 subfamily E member 174 |
| Synonyms |
MOR145-4, GA_x6K02T2PVTD-13841888-13842802, Olfr868 |
| MMRRC Submission |
039181-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.145)
|
| Stock # |
R1108 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
20009922-20012986 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 20012121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Alanine
at position 22
(D22A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000212767]
[ENSMUST00000212999]
|
| AlphaFold |
Q8VFI8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050227
AA Change: D22A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000050040
Gene: ENSMUSG00000044106
AA Change: D22A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
34 |
309 |
3.4e-50 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
38 |
288 |
3.6e-7 |
PFAM |
|
Pfam:7tm_1
|
44 |
293 |
4.8e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212767
AA Change: D22A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212999
AA Change: D22A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000215566
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.0%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,610,333 (GRCm39) |
T170A |
probably benign |
Het |
| Atrn |
T |
C |
2: 130,799,834 (GRCm39) |
Y404H |
probably damaging |
Het |
| Calb2 |
T |
A |
8: 110,869,760 (GRCm39) |
R258* |
probably null |
Het |
| Cep128 |
T |
A |
12: 91,305,883 (GRCm39) |
E173D |
probably damaging |
Het |
| Cndp2 |
A |
G |
18: 84,693,185 (GRCm39) |
C192R |
probably damaging |
Het |
| Dtx3 |
T |
A |
10: 127,027,158 (GRCm39) |
I339F |
possibly damaging |
Het |
| Esrrb |
G |
A |
12: 86,552,604 (GRCm39) |
R182Q |
probably damaging |
Het |
| Fgf22 |
T |
C |
10: 79,592,417 (GRCm39) |
I58T |
probably damaging |
Het |
| Flcn |
A |
G |
11: 59,692,026 (GRCm39) |
F208L |
possibly damaging |
Het |
| Fras1 |
G |
A |
5: 96,790,488 (GRCm39) |
C954Y |
probably damaging |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,760,359 (GRCm39) |
L530I |
probably damaging |
Het |
| Man1c1 |
T |
C |
4: 134,291,924 (GRCm39) |
E548G |
probably damaging |
Het |
| Myh4 |
T |
G |
11: 67,146,532 (GRCm39) |
L1502V |
probably null |
Het |
| Or51f23 |
G |
A |
7: 102,453,057 (GRCm39) |
R124H |
probably benign |
Het |
| Pak4 |
A |
G |
7: 28,259,667 (GRCm39) |
M510T |
probably damaging |
Het |
| Plk2 |
A |
G |
13: 110,536,023 (GRCm39) |
M576V |
probably damaging |
Het |
| Rmc1 |
G |
A |
18: 12,314,680 (GRCm39) |
D87N |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,439,498 (GRCm39) |
C9R |
probably benign |
Het |
| Spata31e2 |
C |
G |
1: 26,721,547 (GRCm39) |
S1211T |
possibly damaging |
Het |
| Svs6 |
T |
C |
2: 164,159,580 (GRCm39) |
|
probably null |
Het |
| Teddm1a |
T |
C |
1: 153,768,066 (GRCm39) |
W177R |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,194,375 (GRCm39) |
R800G |
probably benign |
Het |
| Zfp971 |
C |
T |
2: 177,675,463 (GRCm39) |
P354L |
probably damaging |
Het |
| Zik1 |
G |
A |
7: 10,224,312 (GRCm39) |
R262C |
probably damaging |
Het |
|
| Other mutations in Or7e174 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02647:Or7e174
|
APN |
9 |
20,012,505 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03080:Or7e174
|
APN |
9 |
20,012,705 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0421:Or7e174
|
UTSW |
9 |
20,012,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Or7e174
|
UTSW |
9 |
20,012,744 (GRCm39) |
nonsense |
probably null |
|
|
R1386:Or7e174
|
UTSW |
9 |
20,012,878 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1693:Or7e174
|
UTSW |
9 |
20,012,883 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1732:Or7e174
|
UTSW |
9 |
20,012,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2006:Or7e174
|
UTSW |
9 |
20,012,165 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4556:Or7e174
|
UTSW |
9 |
20,012,619 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R4602:Or7e174
|
UTSW |
9 |
20,012,540 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5125:Or7e174
|
UTSW |
9 |
20,012,488 (GRCm39) |
nonsense |
probably null |
|
|
R5178:Or7e174
|
UTSW |
9 |
20,012,488 (GRCm39) |
nonsense |
probably null |
|
|
R7324:Or7e174
|
UTSW |
9 |
20,012,726 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7358:Or7e174
|
UTSW |
9 |
20,012,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7536:Or7e174
|
UTSW |
9 |
20,012,826 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7539:Or7e174
|
UTSW |
9 |
20,012,915 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7572:Or7e174
|
UTSW |
9 |
20,012,154 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7946:Or7e174
|
UTSW |
9 |
20,012,780 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8805:Or7e174
|
UTSW |
9 |
20,012,580 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTCCCAAGCATGGGTTTTACAAGC -3'
(R):5'- AGCCAATGTCAGCCAAGGACAG -3'
Sequencing Primer
(F):5'- GGGTATATAATGCCTTCTACCCAGG -3'
(R):5'- TGTCAGCCAAGGACAGAATGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation