Incidental Mutation 'R4333:Or51h7'
| ID |
323664 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or51h7
|
| Ensembl Gene |
ENSMUSG00000052785 |
| Gene Name |
olfactory receptor family 51 subfamily H member 7 |
| Synonyms |
Olfr573, MOR10-3P, MOR10-4, GA_x6K02T2PBJ9-5653743-5652872 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4333 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
102590889-102591782 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 102591176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 203
(L203I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064830]
[ENSMUST00000210571]
|
| AlphaFold |
A0A1B0GRU2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064830
AA Change: L203I
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000065147
Gene: ENSMUSG00000052785
AA Change: L203I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
33 |
296 |
9.3e-109 |
PFAM |
|
Pfam:7tm_1
|
43 |
288 |
4.6e-17 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000064830
AA Change: L203I
PolyPhen 2
Score 0.502 (Sensitivity: 0.88; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210571
AA Change: L203I
PolyPhen 2
Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
C |
T |
10: 10,318,246 (GRCm39) |
V193I |
possibly damaging |
Het |
| Cadps |
C |
T |
14: 12,467,031 (GRCm38) |
R967H |
probably damaging |
Het |
| Cwh43 |
A |
G |
5: 73,598,722 (GRCm39) |
D647G |
probably damaging |
Het |
| Dab2ip |
T |
A |
2: 35,551,632 (GRCm39) |
*164R |
probably null |
Het |
| Ddx18 |
A |
T |
1: 121,492,331 (GRCm39) |
D125E |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,879,802 (GRCm39) |
C375R |
probably damaging |
Het |
| Iqca1l |
A |
G |
5: 24,749,368 (GRCm39) |
L710P |
probably damaging |
Het |
| Khnyn |
A |
G |
14: 56,131,499 (GRCm39) |
D536G |
probably damaging |
Het |
| Lamp3 |
T |
C |
16: 19,492,186 (GRCm39) |
I353V |
probably benign |
Het |
| Med13 |
A |
G |
11: 86,179,009 (GRCm39) |
F1429S |
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,742,523 (GRCm39) |
K621E |
probably damaging |
Het |
| Myo19 |
G |
A |
11: 84,799,114 (GRCm39) |
A816T |
probably benign |
Het |
| Or10d1c |
A |
G |
9: 38,893,884 (GRCm39) |
I152T |
possibly damaging |
Het |
| Rnf2 |
T |
C |
1: 151,348,827 (GRCm39) |
T98A |
possibly damaging |
Het |
| Samm50 |
A |
G |
15: 84,087,031 (GRCm39) |
K280R |
probably benign |
Het |
| Satb2 |
T |
C |
1: 56,884,745 (GRCm39) |
N511S |
probably damaging |
Het |
| Tbc1d19 |
A |
G |
5: 54,029,619 (GRCm39) |
T327A |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,199 (GRCm39) |
N786S |
probably damaging |
Het |
|
| Other mutations in Or51h7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0472:Or51h7
|
UTSW |
7 |
102,591,258 (GRCm39) |
nonsense |
probably null |
|
|
R1537:Or51h7
|
UTSW |
7 |
102,591,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2168:Or51h7
|
UTSW |
7 |
102,591,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3781:Or51h7
|
UTSW |
7 |
102,591,278 (GRCm39) |
missense |
probably benign |
|
|
R4198:Or51h7
|
UTSW |
7 |
102,591,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4200:Or51h7
|
UTSW |
7 |
102,591,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4838:Or51h7
|
UTSW |
7 |
102,591,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5041:Or51h7
|
UTSW |
7 |
102,591,785 (GRCm39) |
splice site |
probably null |
|
|
R5371:Or51h7
|
UTSW |
7 |
102,591,719 (GRCm39) |
missense |
probably benign |
|
|
R5668:Or51h7
|
UTSW |
7 |
102,591,128 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7836:Or51h7
|
UTSW |
7 |
102,591,125 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7887:Or51h7
|
UTSW |
7 |
102,591,358 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7991:Or51h7
|
UTSW |
7 |
102,591,760 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9660:Or51h7
|
UTSW |
7 |
102,591,259 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9717:Or51h7
|
UTSW |
7 |
102,591,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATATTGGCCATGAGCATGTGC -3'
(R):5'- GACTAGTTGTCTTGGACCGG -3'
Sequencing Primer
(F):5'- CCATGAGCATGTGCACAATTG -3'
(R):5'- TCTTGGACCGGGCAGTCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation