Incidental Mutation 'R6721:Or7e178'
| ID |
529593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Or7e178
|
| Ensembl Gene |
ENSMUSG00000066896 |
| Gene Name |
olfactory receptor family 7 subfamily E member 178 |
| Synonyms |
MTPCR34, MOR145-1, Olfr18, GA_x6K02T2PVTD-14054886-14053957 |
| MMRRC Submission |
044839-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
20225188-20247390 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 20225576 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 213
(D213E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000083664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000086473]
[ENSMUST00000212943]
|
| AlphaFold |
Q0VAX9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000086473
AA Change: D213E
PolyPhen 2
Score 0.238 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000083664
Gene: ENSMUSG00000066896
AA Change: D213E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
53 |
330 |
1.2e-54 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
57 |
234 |
3.2e-9 |
PFAM |
|
Pfam:7tm_1
|
63 |
312 |
4.7e-25 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211895
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212943
AA Change: D205E
PolyPhen 2
Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220241
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (44/44) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,629,634 (GRCm39) |
L3588S |
probably benign |
Het |
| Ankrd27 |
T |
C |
7: 35,311,976 (GRCm39) |
F402S |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,139,720 (GRCm39) |
Q359R |
probably null |
Het |
| Arhgef10l |
T |
C |
4: 140,297,655 (GRCm39) |
Y546C |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,170,625 (GRCm39) |
Y1615H |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,765,939 (GRCm39) |
Y142C |
probably damaging |
Het |
| Cfap418 |
A |
G |
4: 10,874,744 (GRCm39) |
N44D |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,260,045 (GRCm39) |
|
probably benign |
Het |
| Cmtm2b |
A |
G |
8: 105,049,077 (GRCm39) |
S31G |
possibly damaging |
Het |
| CN725425 |
A |
G |
15: 91,115,821 (GRCm39) |
K21R |
possibly damaging |
Het |
| Cngb1 |
T |
C |
8: 95,997,516 (GRCm39) |
T560A |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,926,977 (GRCm39) |
D151G |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,504,108 (GRCm39) |
V124E |
probably damaging |
Het |
| Ctsd |
G |
A |
7: 141,930,590 (GRCm39) |
P349S |
possibly damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,478 (GRCm39) |
W459R |
probably damaging |
Het |
| Faxc |
A |
T |
4: 21,982,672 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,084 (GRCm39) |
I239T |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,122,529 (GRCm39) |
C269* |
probably null |
Het |
| Gmpr2 |
A |
T |
14: 55,910,191 (GRCm39) |
D7V |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,952,296 (GRCm39) |
I204N |
possibly damaging |
Het |
| Il16 |
A |
T |
7: 83,312,270 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
C |
2: 136,936,394 (GRCm39) |
T367A |
probably benign |
Het |
| Lefty2 |
T |
C |
1: 180,722,166 (GRCm39) |
V168A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,034,023 (GRCm39) |
E227G |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,352,729 (GRCm39) |
C739S |
possibly damaging |
Het |
| Npy1r |
T |
A |
8: 67,156,941 (GRCm39) |
C120* |
probably null |
Het |
| Nup153 |
A |
G |
13: 46,854,502 (GRCm39) |
V530A |
probably damaging |
Het |
| Ogfr |
T |
A |
2: 180,237,221 (GRCm39) |
L602Q |
possibly damaging |
Het |
| Or10g7 |
C |
T |
9: 39,905,603 (GRCm39) |
P166S |
possibly damaging |
Het |
| Or10h5 |
C |
T |
17: 33,434,508 (GRCm39) |
G270E |
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,302,776 (GRCm39) |
R440L |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,157 (GRCm39) |
V121A |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,177,794 (GRCm39) |
V1036M |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,925,333 (GRCm39) |
M102K |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,844,213 (GRCm39) |
S7G |
probably benign |
Het |
| Rabggta |
A |
G |
14: 55,954,660 (GRCm39) |
L507P |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,547,836 (GRCm39) |
T473A |
probably damaging |
Het |
| Spc25 |
A |
C |
2: 69,027,517 (GRCm39) |
M125R |
possibly damaging |
Het |
| Taok3 |
T |
C |
5: 117,393,928 (GRCm39) |
M567T |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,851,917 (GRCm39) |
Y327H |
probably benign |
Het |
| Tmem209 |
A |
G |
6: 30,497,174 (GRCm39) |
F339L |
probably benign |
Het |
| U2surp |
T |
C |
9: 95,373,157 (GRCm39) |
N279S |
probably damaging |
Het |
| Ythdf3 |
G |
A |
3: 16,258,025 (GRCm39) |
M61I |
possibly damaging |
Het |
| Zfp647 |
T |
C |
15: 76,796,076 (GRCm39) |
I195V |
probably benign |
Het |
|
| Other mutations in Or7e178 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01992:Or7e178
|
APN |
9 |
20,226,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02412:Or7e178
|
APN |
9 |
20,225,935 (GRCm39) |
missense |
probably benign |
|
|
IGL03288:Or7e178
|
APN |
9 |
20,247,207 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03395:Or7e178
|
APN |
9 |
20,225,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0332:Or7e178
|
UTSW |
9 |
20,225,352 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0346:Or7e178
|
UTSW |
9 |
20,225,707 (GRCm39) |
missense |
probably benign |
0.20 |
|
R0569:Or7e178
|
UTSW |
9 |
20,225,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0798:Or7e178
|
UTSW |
9 |
20,225,495 (GRCm39) |
nonsense |
probably null |
|
|
R0865:Or7e178
|
UTSW |
9 |
20,226,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1082:Or7e178
|
UTSW |
9 |
20,225,765 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R1905:Or7e178
|
UTSW |
9 |
20,226,142 (GRCm39) |
missense |
probably benign |
|
|
R4245:Or7e178
|
UTSW |
9 |
20,225,629 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5566:Or7e178
|
UTSW |
9 |
20,225,265 (GRCm39) |
missense |
probably benign |
|
|
R6306:Or7e178
|
UTSW |
9 |
20,225,742 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6787:Or7e178
|
UTSW |
9 |
20,247,221 (GRCm39) |
missense |
probably benign |
|
|
R6930:Or7e178
|
UTSW |
9 |
20,225,395 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7196:Or7e178
|
UTSW |
9 |
20,225,494 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7711:Or7e178
|
UTSW |
9 |
20,225,319 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8023:Or7e178
|
UTSW |
9 |
20,225,545 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8029:Or7e178
|
UTSW |
9 |
20,225,643 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R8050:Or7e178
|
UTSW |
9 |
20,225,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8058:Or7e178
|
UTSW |
9 |
20,225,476 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8159:Or7e178
|
UTSW |
9 |
20,226,015 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R8201:Or7e178
|
UTSW |
9 |
20,225,908 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9022:Or7e178
|
UTSW |
9 |
20,225,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGGGAGACAAGGACACAG -3'
(R):5'- TGAACCCTCGTCTTTGTGGC -3'
Sequencing Primer
(F):5'- GCTGAACTGAGGTATACCCC -3'
(R):5'- CCCTCGTCTTTGTGGCTTGTTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation