Incidental Mutation 'R1292:Rhbdl2'
ID |
150809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rhbdl2
|
Ensembl Gene |
ENSMUSG00000043333 |
Gene Name |
rhomboid like 2 |
Synonyms |
|
MMRRC Submission |
039358-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1292 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
123681667-123723697 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 123723435 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 280
(A280T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101810
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053202]
[ENSMUST00000106204]
|
AlphaFold |
A2AGA4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000053202
AA Change: A280T
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000054546 Gene: ENSMUSG00000043333 AA Change: A280T
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
Pfam:Rhomboid
|
113 |
268 |
7.1e-39 |
PFAM |
transmembrane domain
|
277 |
299 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106204
AA Change: A280T
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000101810 Gene: ENSMUSG00000043333 AA Change: A280T
Domain | Start | End | E-Value | Type |
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
transmembrane domain
|
68 |
90 |
N/A |
INTRINSIC |
Pfam:Rhomboid
|
113 |
268 |
1.8e-38 |
PFAM |
transmembrane domain
|
277 |
299 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137546
|
Meta Mutation Damage Score |
0.0936 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
97% (31/32) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the rhomboid family of integral membrane proteins. This family contains proteins that are related to Drosophila rhomboid protein. Members of this family are found in both prokaryotes and eukaryotes and are thought to function as intramembrane serine proteases. The encoded protein is thought to release soluble growth factors by proteolytic cleavage of certain membrane-bound substrates, including ephrin B2 and ephrin B3. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2015]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930550C14Rik |
T |
A |
9: 53,336,919 (GRCm39) |
D74E |
probably benign |
Het |
Abcb1a |
A |
T |
5: 8,763,343 (GRCm39) |
T624S |
probably benign |
Het |
Atp8b1 |
T |
C |
18: 64,704,092 (GRCm39) |
Y342C |
probably damaging |
Het |
Clcnka |
A |
G |
4: 141,122,903 (GRCm39) |
|
probably benign |
Het |
Cma2 |
C |
T |
14: 56,211,199 (GRCm39) |
R164C |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,762,026 (GRCm39) |
D496G |
probably damaging |
Het |
Ctbp2 |
T |
A |
7: 132,616,918 (GRCm39) |
R6W |
probably damaging |
Het |
Cyp3a11 |
T |
C |
5: 145,802,804 (GRCm39) |
T230A |
probably benign |
Het |
Defb40 |
A |
C |
8: 19,028,080 (GRCm39) |
I18S |
probably benign |
Het |
Fcgbpl1 |
A |
C |
7: 27,842,219 (GRCm39) |
|
probably benign |
Het |
Gm10036 |
T |
G |
18: 15,966,368 (GRCm39) |
I173S |
possibly damaging |
Het |
Herc2 |
A |
T |
7: 55,846,951 (GRCm39) |
I3634L |
probably benign |
Het |
Igfbp1 |
A |
G |
11: 7,150,863 (GRCm39) |
N218S |
probably damaging |
Het |
Jag1 |
C |
G |
2: 136,925,393 (GRCm39) |
V1070L |
possibly damaging |
Het |
Kmt2a |
A |
T |
9: 44,725,991 (GRCm39) |
|
probably benign |
Het |
Ly9 |
T |
C |
1: 171,416,671 (GRCm39) |
|
probably null |
Het |
Mmut |
C |
A |
17: 41,252,298 (GRCm39) |
A280E |
probably damaging |
Het |
Or5k16 |
C |
T |
16: 58,736,134 (GRCm39) |
R290K |
probably damaging |
Het |
Or6k6 |
A |
G |
1: 173,945,420 (GRCm39) |
F54S |
probably benign |
Het |
Pcdhb13 |
T |
C |
18: 37,576,885 (GRCm39) |
V421A |
probably benign |
Het |
Pik3ca |
T |
A |
3: 32,508,569 (GRCm39) |
L779Q |
probably damaging |
Het |
Plxnd1 |
T |
C |
6: 115,939,644 (GRCm39) |
|
probably benign |
Het |
Prss16 |
T |
A |
13: 22,193,691 (GRCm39) |
K35* |
probably null |
Het |
Slc2a2 |
C |
T |
3: 28,771,637 (GRCm39) |
T189I |
probably damaging |
Het |
Srsf6 |
C |
T |
2: 162,776,403 (GRCm39) |
|
probably benign |
Het |
Tacr1 |
A |
G |
6: 82,531,856 (GRCm39) |
I251V |
probably damaging |
Het |
Tln1 |
A |
G |
4: 43,534,578 (GRCm39) |
|
probably null |
Het |
Vdac3-ps1 |
T |
C |
13: 18,205,880 (GRCm39) |
|
noncoding transcript |
Het |
Zfp458 |
A |
T |
13: 67,404,754 (GRCm39) |
C562S |
probably damaging |
Het |
|
Other mutations in Rhbdl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01389:Rhbdl2
|
APN |
4 |
123,723,450 (GRCm39) |
missense |
probably benign |
|
IGL02111:Rhbdl2
|
APN |
4 |
123,716,630 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03381:Rhbdl2
|
APN |
4 |
123,716,610 (GRCm39) |
missense |
possibly damaging |
0.84 |
IGL03410:Rhbdl2
|
APN |
4 |
123,723,463 (GRCm39) |
nonsense |
probably null |
|
R0039:Rhbdl2
|
UTSW |
4 |
123,703,822 (GRCm39) |
missense |
probably benign |
0.02 |
R2024:Rhbdl2
|
UTSW |
4 |
123,720,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R2120:Rhbdl2
|
UTSW |
4 |
123,718,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R4364:Rhbdl2
|
UTSW |
4 |
123,703,728 (GRCm39) |
start codon destroyed |
probably null |
0.87 |
R4366:Rhbdl2
|
UTSW |
4 |
123,703,728 (GRCm39) |
start codon destroyed |
probably null |
0.87 |
R4413:Rhbdl2
|
UTSW |
4 |
123,703,880 (GRCm39) |
missense |
probably benign |
0.04 |
R4749:Rhbdl2
|
UTSW |
4 |
123,720,694 (GRCm39) |
critical splice donor site |
probably null |
|
R5069:Rhbdl2
|
UTSW |
4 |
123,711,710 (GRCm39) |
nonsense |
probably null |
|
R5303:Rhbdl2
|
UTSW |
4 |
123,704,014 (GRCm39) |
intron |
probably benign |
|
R5951:Rhbdl2
|
UTSW |
4 |
123,708,120 (GRCm39) |
missense |
probably benign |
0.00 |
R7147:Rhbdl2
|
UTSW |
4 |
123,703,908 (GRCm39) |
missense |
probably damaging |
1.00 |
R7171:Rhbdl2
|
UTSW |
4 |
123,708,049 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7337:Rhbdl2
|
UTSW |
4 |
123,711,659 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7374:Rhbdl2
|
UTSW |
4 |
123,711,658 (GRCm39) |
missense |
probably benign |
0.01 |
R7411:Rhbdl2
|
UTSW |
4 |
123,723,435 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7718:Rhbdl2
|
UTSW |
4 |
123,718,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R8152:Rhbdl2
|
UTSW |
4 |
123,718,711 (GRCm39) |
missense |
probably benign |
0.13 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTGCGCTGGAGTAGGAGATCCAC -3'
(R):5'- CCTATTGTAAGCTCAGTCGCTGTCC -3'
Sequencing Primer
(F):5'- GTAGGAGATCCACAGCTAAAATATAC -3'
(R):5'- ggctgacctggaactcac -3'
|
Posted On |
2014-01-29 |