Incidental Mutation 'IGL02746:Dhrs2'
ID |
306040 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dhrs2
|
Ensembl Gene |
ENSMUSG00000022209 |
Gene Name |
dehydrogenase/reductase member 2 |
Synonyms |
5430405K24Rik, SDR family |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02746
|
Quality Score |
|
Status
|
|
Chromosome |
14 |
Chromosomal Location |
55459464-55478892 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55478628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 258
(S258P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129115
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022820]
[ENSMUST00000165432]
|
AlphaFold |
Q149L0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022820
AA Change: S258P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000022820 Gene: ENSMUSG00000022209 AA Change: S258P
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
38 |
206 |
2.2e-31 |
PFAM |
Pfam:KR
|
39 |
213 |
1.4e-11 |
PFAM |
Pfam:adh_short_C2
|
43 |
279 |
2.8e-36 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000165432
AA Change: S258P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000129115 Gene: ENSMUSG00000022209 AA Change: S258P
Domain | Start | End | E-Value | Type |
Pfam:adh_short
|
38 |
233 |
6.3e-52 |
PFAM |
Pfam:KR
|
39 |
213 |
9.1e-12 |
PFAM |
Pfam:adh_short_C2
|
43 |
279 |
1.8e-36 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228056
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
G |
A |
6: 121,646,462 (GRCm39) |
|
probably benign |
Het |
Adck5 |
A |
T |
15: 76,473,354 (GRCm39) |
M68L |
probably benign |
Het |
Aox3 |
T |
C |
1: 58,222,701 (GRCm39) |
S1165P |
possibly damaging |
Het |
Arhgap23 |
A |
G |
11: 97,345,030 (GRCm39) |
|
probably benign |
Het |
Brdt |
T |
C |
5: 107,518,190 (GRCm39) |
L771P |
probably benign |
Het |
Ccdc134 |
T |
A |
15: 82,015,938 (GRCm39) |
|
probably benign |
Het |
Cdc42bpa |
T |
A |
1: 179,939,312 (GRCm39) |
D41E |
possibly damaging |
Het |
Cdkn2aipnl |
A |
G |
11: 51,861,047 (GRCm39) |
T106A |
probably damaging |
Het |
Cox10 |
G |
A |
11: 63,855,357 (GRCm39) |
|
probably benign |
Het |
Cubn |
C |
A |
2: 13,449,851 (GRCm39) |
C891F |
probably damaging |
Het |
Cyb5rl |
A |
G |
4: 106,925,836 (GRCm39) |
E6G |
probably benign |
Het |
Dnah10 |
T |
C |
5: 124,807,150 (GRCm39) |
L145P |
possibly damaging |
Het |
Epc1 |
A |
G |
18: 6,454,317 (GRCm39) |
I129T |
probably benign |
Het |
Gkn3 |
A |
G |
6: 87,364,339 (GRCm39) |
|
probably benign |
Het |
Gls2 |
A |
G |
10: 128,036,825 (GRCm39) |
D202G |
probably damaging |
Het |
Gm45844 |
A |
G |
7: 7,243,178 (GRCm39) |
F24S |
probably damaging |
Het |
Golph3 |
C |
T |
15: 12,349,501 (GRCm39) |
R174W |
probably damaging |
Het |
Gpatch4 |
A |
C |
3: 87,961,698 (GRCm39) |
E119A |
possibly damaging |
Het |
Hemgn |
A |
G |
4: 46,400,740 (GRCm39) |
L40P |
probably damaging |
Het |
Ifi27l2b |
A |
T |
12: 103,417,493 (GRCm39) |
D231E |
unknown |
Het |
Klf12 |
T |
C |
14: 100,137,656 (GRCm39) |
I297V |
probably benign |
Het |
Lzts3 |
T |
C |
2: 130,478,261 (GRCm39) |
N165S |
probably damaging |
Het |
Nlrp4e |
G |
A |
7: 23,021,264 (GRCm39) |
V584I |
probably benign |
Het |
Npas4 |
T |
C |
19: 5,036,695 (GRCm39) |
T490A |
probably damaging |
Het |
Pikfyve |
C |
A |
1: 65,273,431 (GRCm39) |
H615Q |
probably damaging |
Het |
Plce1 |
T |
A |
19: 38,686,916 (GRCm39) |
L608Q |
probably damaging |
Het |
Pou2f3 |
T |
G |
9: 43,058,143 (GRCm39) |
Q67H |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,700,585 (GRCm39) |
L1694P |
probably damaging |
Het |
Rpl4 |
A |
G |
9: 64,082,932 (GRCm39) |
T117A |
probably benign |
Het |
Scn5a |
T |
C |
9: 119,379,703 (GRCm39) |
N194D |
probably damaging |
Het |
Sec16b |
T |
A |
1: 157,373,859 (GRCm39) |
|
probably benign |
Het |
Slc12a5 |
A |
T |
2: 164,816,836 (GRCm39) |
M97L |
probably benign |
Het |
Stard13 |
A |
G |
5: 150,970,322 (GRCm39) |
|
probably benign |
Het |
Stau1 |
A |
C |
2: 166,796,818 (GRCm39) |
|
probably null |
Het |
Thg1l |
A |
T |
11: 45,839,054 (GRCm39) |
C219* |
probably null |
Het |
Togaram1 |
G |
T |
12: 65,013,270 (GRCm39) |
E174* |
probably null |
Het |
Vmn1r237 |
T |
C |
17: 21,534,480 (GRCm39) |
S68P |
possibly damaging |
Het |
Vmn2r3 |
A |
T |
3: 64,167,239 (GRCm39) |
S631T |
possibly damaging |
Het |
|
Other mutations in Dhrs2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01747:Dhrs2
|
APN |
14 |
55,472,120 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02510:Dhrs2
|
APN |
14 |
55,473,532 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02604:Dhrs2
|
APN |
14 |
55,474,778 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL03060:Dhrs2
|
APN |
14 |
55,474,775 (GRCm39) |
missense |
probably benign |
0.06 |
R0179:Dhrs2
|
UTSW |
14 |
55,477,933 (GRCm39) |
missense |
probably damaging |
1.00 |
R0358:Dhrs2
|
UTSW |
14 |
55,473,574 (GRCm39) |
missense |
probably damaging |
0.99 |
R0755:Dhrs2
|
UTSW |
14 |
55,472,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R1848:Dhrs2
|
UTSW |
14 |
55,478,298 (GRCm39) |
missense |
probably benign |
|
R1977:Dhrs2
|
UTSW |
14 |
55,472,112 (GRCm39) |
start codon destroyed |
probably null |
0.11 |
R3084:Dhrs2
|
UTSW |
14 |
55,477,301 (GRCm39) |
missense |
probably benign |
0.00 |
R3086:Dhrs2
|
UTSW |
14 |
55,477,301 (GRCm39) |
missense |
probably benign |
0.00 |
R3805:Dhrs2
|
UTSW |
14 |
55,472,205 (GRCm39) |
missense |
probably benign |
0.03 |
R3806:Dhrs2
|
UTSW |
14 |
55,472,205 (GRCm39) |
missense |
probably benign |
0.03 |
R4361:Dhrs2
|
UTSW |
14 |
55,478,646 (GRCm39) |
missense |
probably damaging |
0.99 |
R4754:Dhrs2
|
UTSW |
14 |
55,476,205 (GRCm39) |
missense |
probably damaging |
0.97 |
R4989:Dhrs2
|
UTSW |
14 |
55,474,722 (GRCm39) |
missense |
probably damaging |
1.00 |
R5307:Dhrs2
|
UTSW |
14 |
55,473,601 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7561:Dhrs2
|
UTSW |
14 |
55,474,698 (GRCm39) |
missense |
probably benign |
|
R8245:Dhrs2
|
UTSW |
14 |
55,478,637 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8296:Dhrs2
|
UTSW |
14 |
55,477,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R8324:Dhrs2
|
UTSW |
14 |
55,476,221 (GRCm39) |
missense |
probably damaging |
1.00 |
R8782:Dhrs2
|
UTSW |
14 |
55,473,538 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8923:Dhrs2
|
UTSW |
14 |
55,478,309 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2015-04-16 |