Incidental Mutation 'IGL01389:Rhbdl2'
ID 79148
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 # IGL01389
Quality Score
Status
Chromosome 4
Chromosomal Location 123681667-123723697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 123723450 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 285 (V285L)
Ref Sequence ENSEMBL: ENSMUSP00000101810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053202] [ENSMUST00000106204]
AlphaFold A2AGA4
Predicted Effect probably benign
Transcript: ENSMUST00000053202
AA Change: V285L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000054546
Gene: ENSMUSG00000043333
AA Change: V285L

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 probably benign
Transcript: ENSMUST00000106204
AA Change: V285L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000101810
Gene: ENSMUSG00000043333
AA Change: V285L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137546
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc163 T C 4: 116,568,503 (GRCm39) probably benign Het
Ceacam5 T G 7: 17,481,300 (GRCm39) V349G probably damaging Het
Ces2e T A 8: 105,656,197 (GRCm39) D169E probably benign Het
Cfh G T 1: 140,082,377 (GRCm39) T150K probably benign Het
Chrd A G 16: 20,559,975 (GRCm39) M859V possibly damaging Het
Clca3a2 C T 3: 144,783,629 (GRCm39) probably null Het
Crocc T C 4: 140,749,423 (GRCm39) E1536G probably damaging Het
Dhx57 A G 17: 80,588,652 (GRCm39) V67A probably benign Het
Dock11 T C X: 35,256,701 (GRCm39) V576A probably benign Het
Ighv1-85 A G 12: 115,963,671 (GRCm39) S110P probably damaging Het
Lyg1 G A 1: 37,989,011 (GRCm39) P70S probably damaging Het
Numbl T G 7: 26,980,472 (GRCm39) F485V possibly damaging Het
Or4x6 A T 2: 89,949,412 (GRCm39) C177S probably damaging Het
Pclo A G 5: 14,764,535 (GRCm39) E1051G probably damaging Het
Pdzd2 T C 15: 12,374,712 (GRCm39) S1808G possibly damaging Het
Rad51b T A 12: 79,349,327 (GRCm39) H54Q probably benign Het
Rbbp7 T C X: 161,552,939 (GRCm39) probably benign Het
Slc22a16 T A 10: 40,461,131 (GRCm39) M311K probably damaging Het
Slc22a21 A G 11: 53,870,407 (GRCm39) S93P probably damaging Het
Stt3b T C 9: 115,082,968 (GRCm39) E488G probably benign Het
Tas2r108 A G 6: 40,470,866 (GRCm39) H114R possibly damaging Het
Tcaim A G 9: 122,643,627 (GRCm39) E109G possibly damaging Het
Tsc22d2 A G 3: 58,323,659 (GRCm39) T184A probably damaging Het
Vmn2r2 G T 3: 64,024,430 (GRCm39) T717N probably damaging Het
Vps25 C T 11: 101,144,861 (GRCm39) Q20* probably null Het
Xiap T C X: 41,183,429 (GRCm39) F52L probably damaging Het
Other mutations in Rhbdl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2013-11-05