Incidental Mutation 'IGL03174:Or2d2b'
| ID |
411934 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Or2d2b
|
| Ensembl Gene |
ENSMUSG00000062987 |
| Gene Name |
olfactory receptor family 2 subfamily D member 2B |
| Synonyms |
EG384732, Olfr715b, Gm10081 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.136)
|
| Stock # |
IGL03174
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
106705119-106706066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 106705477 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 197
(M197K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149136
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081044]
[ENSMUST00000215713]
|
| AlphaFold |
E9Q725 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081044
AA Change: M197K
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000079834
Gene: ENSMUSG00000062987
AA Change: M197K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_4
|
31 |
306 |
7e-57 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
35 |
282 |
1.8e-7 |
PFAM |
|
Pfam:7tm_1
|
41 |
288 |
2.5e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000215713
AA Change: M197K
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,877,752 (GRCm39) |
L703P |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,435,110 (GRCm39) |
K602R |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,733,744 (GRCm39) |
D622G |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,054,969 (GRCm39) |
L287Q |
probably damaging |
Het |
| Brd8 |
T |
C |
18: 34,737,962 (GRCm39) |
E774G |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,487,983 (GRCm39) |
S558P |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,282,666 (GRCm39) |
I781T |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,083,607 (GRCm39) |
R448* |
probably null |
Het |
| Dgkb |
A |
T |
12: 38,266,053 (GRCm39) |
I511F |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,542 (GRCm39) |
E23G |
probably benign |
Het |
| Gm17067 |
C |
A |
7: 42,360,100 (GRCm39) |
|
probably null |
Het |
| Grin3a |
T |
A |
4: 49,771,107 (GRCm39) |
D555V |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,251,215 (GRCm39) |
Y107C |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,515 (GRCm39) |
D73G |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,767,773 (GRCm39) |
D52G |
probably benign |
Het |
| Llgl1 |
G |
T |
11: 60,597,036 (GRCm39) |
R189L |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,296,609 (GRCm39) |
D3315V |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,349,247 (GRCm39) |
S24P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,909,383 (GRCm39) |
L1616P |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,622,789 (GRCm39) |
|
probably benign |
Het |
| Or5b119 |
A |
G |
19: 13,457,433 (GRCm39) |
M43T |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,954,331 (GRCm39) |
R1595H |
possibly damaging |
Het |
| Pramel29 |
C |
T |
4: 143,935,000 (GRCm39) |
S247N |
probably benign |
Het |
| Rusc1 |
T |
C |
3: 88,999,077 (GRCm39) |
D235G |
probably damaging |
Het |
| Serpinb6e |
A |
T |
13: 34,020,463 (GRCm39) |
I215N |
probably damaging |
Het |
| Sfrp4 |
A |
T |
13: 19,816,377 (GRCm39) |
Q137L |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,970,975 (GRCm39) |
Y67H |
probably benign |
Het |
| Vmn2r2 |
C |
T |
3: 64,024,544 (GRCm39) |
W679* |
probably null |
Het |
| Vps8 |
T |
A |
16: 21,285,213 (GRCm39) |
L398H |
probably damaging |
Het |
| Zfp709 |
A |
T |
8: 72,642,870 (GRCm39) |
T99S |
probably benign |
Het |
|
| Other mutations in Or2d2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00981:Or2d2b
|
APN |
7 |
106,705,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00981:Or2d2b
|
APN |
7 |
106,705,268 (GRCm39) |
nonsense |
probably null |
|
|
IGL01642:Or2d2b
|
APN |
7 |
106,706,029 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R1724:Or2d2b
|
UTSW |
7 |
106,705,409 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2029:Or2d2b
|
UTSW |
7 |
106,705,643 (GRCm39) |
missense |
probably benign |
|
|
R2860:Or2d2b
|
UTSW |
7 |
106,705,675 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2861:Or2d2b
|
UTSW |
7 |
106,705,675 (GRCm39) |
missense |
probably benign |
0.10 |
|
R2862:Or2d2b
|
UTSW |
7 |
106,705,675 (GRCm39) |
missense |
probably benign |
0.10 |
|
R3807:Or2d2b
|
UTSW |
7 |
106,705,670 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4797:Or2d2b
|
UTSW |
7 |
106,705,234 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5008:Or2d2b
|
UTSW |
7 |
106,705,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5918:Or2d2b
|
UTSW |
7 |
106,705,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6090:Or2d2b
|
UTSW |
7 |
106,705,456 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6174:Or2d2b
|
UTSW |
7 |
106,705,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6253:Or2d2b
|
UTSW |
7 |
106,705,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7408:Or2d2b
|
UTSW |
7 |
106,705,274 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7483:Or2d2b
|
UTSW |
7 |
106,705,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7750:Or2d2b
|
UTSW |
7 |
106,705,740 (GRCm39) |
nonsense |
probably null |
|
|
R8260:Or2d2b
|
UTSW |
7 |
106,706,062 (GRCm39) |
missense |
probably benign |
|
|
R8374:Or2d2b
|
UTSW |
7 |
106,706,033 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Or2d2b
|
UTSW |
7 |
106,705,664 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9431:Or2d2b
|
UTSW |
7 |
106,705,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation