Incidental Mutation 'IGL03381:Rhbdl2'
ID 420689
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhbdl2
Ensembl Gene ENSMUSG00000043333
Gene Name rhomboid like 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03381
Quality Score
Status
Chromosome 4
Chromosomal Location 123681667-123723697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 123716610 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 189 (V189A)
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: V189A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000054546
Gene: ENSMUSG00000043333
AA Change: V189A

DomainStartEndE-ValueType
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: V189A

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101810
Gene: ENSMUSG00000043333
AA Change: V189A

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330017A19Rik T C 17: 47,200,812 (GRCm39) probably benign Het
Abca16 T C 7: 120,127,041 (GRCm39) F1243S probably benign Het
Adgrv1 A G 13: 81,666,086 (GRCm39) V1990A probably damaging Het
Arhgdib G A 6: 136,909,314 (GRCm39) T69I probably benign Het
Atf2 G A 2: 73,659,012 (GRCm39) A214V probably benign Het
Ccr2 G A 9: 123,906,409 (GRCm39) V230I probably benign Het
Cnksr1 T C 4: 133,959,482 (GRCm39) E384G probably damaging Het
Epha5 T A 5: 84,479,191 (GRCm39) D271V probably damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gpr15 A G 16: 58,538,339 (GRCm39) F250S probably damaging Het
Gzmf A T 14: 56,444,450 (GRCm39) V41E probably benign Het
H2-T10 C T 17: 36,430,246 (GRCm39) D232N probably benign Het
H2-T10 T A 17: 36,430,249 (GRCm39) K231* probably null Het
Hsd3b6 A G 3: 98,715,128 (GRCm39) V88A possibly damaging Het
Kit C T 5: 75,767,788 (GRCm39) T57M probably benign Het
Klhl22 A G 16: 17,610,591 (GRCm39) D614G possibly damaging Het
Matr3 T A 18: 35,712,078 (GRCm39) probably benign Het
Mff A G 1: 82,719,661 (GRCm39) Y213C probably damaging Het
Mrnip A G 11: 50,090,417 (GRCm39) T194A probably benign Het
Msh6 T C 17: 88,292,537 (GRCm39) F431L probably damaging Het
Mttp G A 3: 137,810,704 (GRCm39) R637C probably damaging Het
Nlrc3 A G 16: 3,782,179 (GRCm39) V410A probably benign Het
Or4c120 A G 2: 89,001,523 (GRCm39) I11T possibly damaging Het
Or52a5b T C 7: 103,417,044 (GRCm39) I187V probably benign Het
Or5b108 T A 19: 13,168,769 (GRCm39) V246D probably damaging Het
Pramel21 T C 4: 143,343,625 (GRCm39) probably benign Het
Psip1 T C 4: 83,404,022 (GRCm39) T2A probably benign Het
Rbm33 T C 5: 28,599,390 (GRCm39) F921L unknown Het
Rpap2 C T 5: 107,768,067 (GRCm39) P302S probably benign Het
Sec23ip T A 7: 128,352,029 (GRCm39) V32D probably damaging Het
Sh3yl1 T C 12: 30,976,836 (GRCm39) I47T possibly damaging Het
Spmip4 T C 6: 50,566,116 (GRCm39) S120G probably damaging Het
Tenm2 A C 11: 35,959,238 (GRCm39) S1104A probably benign Het
Ufd1 A G 16: 18,644,507 (GRCm39) D190G probably damaging Het
Ugt1a7c T C 1: 88,023,512 (GRCm39) F224L probably benign Het
Utp20 G T 10: 88,657,867 (GRCm39) F64L probably damaging Het
Vmn1r198 A G 13: 22,539,006 (GRCm39) Y164C probably benign Het
Wdcp T A 12: 4,901,926 (GRCm39) V594D probably damaging Het
Xirp2 A C 2: 67,344,570 (GRCm39) E2270D probably benign Het
Other mutations in Rhbdl2
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL03410:Rhbdl2 APN 4 123,723,463 (GRCm39) nonsense probably null
R0039:Rhbdl2 UTSW 4 123,703,822 (GRCm39) missense probably benign 0.02
R1292:Rhbdl2 UTSW 4 123,723,435 (GRCm39) missense possibly damaging 0.69
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
Posted On 2016-08-02