Incidental Mutation 'R3086:Dhrs2'
| ID |
265649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dhrs2
|
| Ensembl Gene |
ENSMUSG00000022209 |
| Gene Name |
dehydrogenase/reductase member 2 |
| Synonyms |
5430405K24Rik, SDR family |
| MMRRC Submission |
040575-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3086 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
55459464-55478892 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55477301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 179
(V179L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022820]
[ENSMUST00000165432]
|
| AlphaFold |
Q149L0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022820
AA Change: V179L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000022820
Gene: ENSMUSG00000022209
AA Change: V179L
| 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 benign
Transcript: ENSMUST00000165432
AA Change: V179L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129115
Gene: ENSMUSG00000022209
AA Change: V179L
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310039H08Rik |
T |
C |
17: 47,083,881 (GRCm39) |
L48P |
probably damaging |
Het |
| Adgra3 |
A |
T |
5: 50,170,733 (GRCm39) |
|
probably null |
Het |
| Alms1 |
A |
G |
6: 85,655,122 (GRCm39) |
R3223G |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,065,852 (GRCm39) |
D3483G |
possibly damaging |
Het |
| Cabyr |
T |
C |
18: 12,884,023 (GRCm39) |
V170A |
probably damaging |
Het |
| Ces2b |
A |
T |
8: 105,559,401 (GRCm39) |
D89V |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,216,258 (GRCm39) |
T595A |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,510,074 (GRCm39) |
N1585D |
possibly damaging |
Het |
| Dock4 |
T |
C |
12: 40,781,862 (GRCm39) |
I689T |
probably benign |
Het |
| Fgfr4 |
G |
T |
13: 55,315,205 (GRCm39) |
|
probably benign |
Het |
| Frk |
G |
A |
10: 34,483,950 (GRCm39) |
G437D |
probably damaging |
Het |
| Frzb |
T |
G |
2: 80,248,858 (GRCm39) |
I199L |
possibly damaging |
Het |
| Gsg1l |
C |
T |
7: 125,490,852 (GRCm39) |
R284H |
probably benign |
Het |
| Helq |
A |
G |
5: 100,921,858 (GRCm39) |
L782S |
probably benign |
Het |
| Kif20b |
T |
C |
19: 34,907,115 (GRCm39) |
F128S |
probably damaging |
Het |
| Kifc2 |
T |
C |
15: 76,551,452 (GRCm39) |
F725L |
probably benign |
Het |
| Lekr1 |
A |
G |
3: 65,634,581 (GRCm39) |
|
noncoding transcript |
Het |
| Macf1 |
T |
A |
4: 123,328,901 (GRCm39) |
M2490L |
probably benign |
Het |
| Megf8 |
T |
A |
7: 25,048,444 (GRCm39) |
Y1706N |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,396 (GRCm39) |
Y342C |
probably damaging |
Het |
| Nf1 |
T |
C |
11: 79,437,812 (GRCm39) |
C2057R |
probably damaging |
Het |
| Or4f60 |
C |
A |
2: 111,902,320 (GRCm39) |
G203* |
probably null |
Het |
| Or4k36 |
A |
G |
2: 111,146,461 (GRCm39) |
I212M |
probably benign |
Het |
| Or6c88 |
G |
A |
10: 129,407,276 (GRCm39) |
G251S |
probably damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pcdha1 |
G |
C |
18: 37,064,001 (GRCm39) |
E222Q |
possibly damaging |
Het |
| Prune2 |
A |
T |
19: 17,098,777 (GRCm39) |
D1427V |
possibly damaging |
Het |
| Rnps1 |
C |
T |
17: 24,631,393 (GRCm39) |
|
probably benign |
Het |
| Rsph4a |
G |
C |
10: 33,785,198 (GRCm39) |
V370L |
probably damaging |
Het |
| Sema5b |
T |
A |
16: 35,443,093 (GRCm39) |
S33T |
probably benign |
Het |
| Stk-ps2 |
A |
C |
1: 46,068,236 (GRCm39) |
|
noncoding transcript |
Het |
| Tep1 |
A |
T |
14: 51,064,511 (GRCm39) |
|
probably null |
Het |
| Tet1 |
T |
C |
10: 62,715,400 (GRCm39) |
K132E |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,471,857 (GRCm39) |
K500E |
probably damaging |
Het |
| Tmem131l |
G |
T |
3: 83,839,046 (GRCm39) |
R635S |
probably benign |
Het |
| Tmem68 |
T |
C |
4: 3,569,594 (GRCm39) |
E32G |
possibly damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,077 (GRCm39) |
|
probably null |
Het |
| Zfp780b |
A |
G |
7: 27,663,055 (GRCm39) |
I500T |
probably damaging |
Het |
| Zfyve26 |
G |
T |
12: 79,312,457 (GRCm39) |
|
probably benign |
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 |
|
IGL02746:Dhrs2
|
APN |
14 |
55,478,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGTAAAAGCAGCTTCCTGAC -3'
(R):5'- GACCTAGAGCATTCACAATTCCATC -3'
Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- ATCCCGGAGACACGTAGTTTATTTC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation