Incidental Mutation 'IGL02111:Rhbdl2'
ID280144
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rhbdl2
Ensembl Gene ENSMUSG00000043333
Gene Namerhomboid like 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02111
Quality Score
Status
Chromosome4
Chromosomal Location123787874-123829904 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 123822837 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 196 (Y196H)
Ref Sequence ENSEMBL: ENSMUSP00000101810 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053202] [ENSMUST00000106204]
Predicted Effect probably damaging
Transcript: ENSMUST00000053202
AA Change: Y196H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054546
Gene: ENSMUSG00000043333
AA Change: Y196H

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 damaging
Transcript: ENSMUST00000106204
AA Change: Y196H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101810
Gene: ENSMUSG00000043333
AA Change: Y196H

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530077C05Rik T C 9: 22,424,179 I31T probably benign Het
Adgrg3 G A 8: 95,034,999 R130Q probably damaging Het
Adipor2 A T 6: 119,370,196 L42* probably null Het
Ankrd45 A G 1: 161,163,351 K259E probably damaging Het
Apoc3 T C 9: 46,234,474 K79R possibly damaging Het
Arhgap40 T C 2: 158,539,844 Y416H probably damaging Het
Armc5 A G 7: 128,244,083 T683A probably benign Het
Bora T C 14: 99,047,377 V21A probably damaging Het
Cacna1b C T 2: 24,606,991 S2189N probably damaging Het
Cct2 G A 10: 117,053,112 T57I probably damaging Het
Cd200r1 A T 16: 44,788,781 N34Y probably damaging Het
Cd300ld2 T A 11: 115,012,393 probably benign Het
Cntnap5a G A 1: 116,089,352 R225H probably benign Het
Cntnap5c A T 17: 58,102,108 D447V probably damaging Het
Cpne7 T C 8: 123,125,653 probably benign Het
Dap3 G A 3: 88,929,418 T92I probably benign Het
Dnmbp A G 19: 43,867,555 L254P probably damaging Het
Egfem1 G A 3: 29,650,896 probably null Het
Fam120b T C 17: 15,402,585 L275P possibly damaging Het
Fam161a A T 11: 23,020,026 H68L probably benign Het
Fam193a A G 5: 34,410,657 E100G possibly damaging Het
Ftmt A T 18: 52,332,053 D147V possibly damaging Het
Gm10136 T C 19: 29,003,722 K41E probably benign Het
Gm10797 C T 10: 67,572,567 noncoding transcript Het
Hsf1 A G 15: 76,496,081 probably benign Het
Ipo8 A G 6: 148,799,780 V514A probably damaging Het
Itfg2 T C 6: 128,410,381 H422R probably benign Het
Lrp4 G T 2: 91,506,059 L1738F probably damaging Het
Mettl17 A G 14: 51,891,386 E371G probably damaging Het
Mfsd6 A T 1: 52,708,344 L454Q probably damaging Het
Myh10 A T 11: 68,790,112 E956V probably damaging Het
Ncoa1 A T 12: 4,274,944 M1K probably null Het
Olfr1163 T A 2: 88,071,227 N52Y probably benign Het
Olfr677 A G 7: 105,056,945 D233G probably benign Het
Olfr709-ps1 A C 7: 106,926,616 V281G probably damaging Het
Otop1 T A 5: 38,277,701 C89S probably benign Het
Pitrm1 G T 13: 6,573,145 R775L probably benign Het
Prpf19 A G 19: 10,905,094 T512A probably benign Het
Prpf4b T A 13: 34,883,961 S258T probably benign Het
Rnf187 T C 11: 58,937,180 D148G probably damaging Het
Sbds A G 5: 130,250,941 I74T probably damaging Het
Sec63 T C 10: 42,810,888 V468A probably damaging Het
Slc35b3 A T 13: 38,955,782 M23K probably damaging Het
Slc6a9 A T 4: 117,864,013 Y208F probably benign Het
Slfn8 A T 11: 83,004,498 L494Q probably damaging Het
Sorcs1 T G 19: 50,230,245 M600L probably benign Het
Supt7l T C 5: 31,515,678 probably null Het
Tecrl T A 5: 83,354,792 Q70L probably damaging Het
Tedc2 A T 17: 24,218,166 probably benign Het
Tespa1 A G 10: 130,355,484 D99G probably damaging Het
Tmem126b G T 7: 90,469,061 Q204K probably damaging Het
Tmem181c-ps A T 17: 6,620,367 noncoding transcript Het
Tmem184a G T 5: 139,813,101 T31K possibly damaging Het
Tmprss11e T A 5: 86,719,801 I137F possibly damaging Het
Tmprss13 C T 9: 45,336,105 T255I probably damaging Het
Top1mt G A 15: 75,665,706 probably benign Het
Treh C T 9: 44,682,961 T168I probably benign Het
Ttn A T 2: 76,767,328 I11420N probably benign Het
Zp2 T C 7: 120,132,418 K705E possibly damaging Het
Zw10 T C 9: 49,068,754 I395T probably damaging Het
Other mutations in Rhbdl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Rhbdl2 APN 4 123829657 missense probably benign
IGL03381:Rhbdl2 APN 4 123822817 missense possibly damaging 0.84
IGL03410:Rhbdl2 APN 4 123829670 nonsense probably null
R0039:Rhbdl2 UTSW 4 123810029 missense probably benign 0.02
R1292:Rhbdl2 UTSW 4 123829642 missense possibly damaging 0.69
R2024:Rhbdl2 UTSW 4 123826872 missense probably damaging 1.00
R2120:Rhbdl2 UTSW 4 123824919 missense probably damaging 1.00
R4364:Rhbdl2 UTSW 4 123809935 start codon destroyed probably null 0.87
R4366:Rhbdl2 UTSW 4 123809935 start codon destroyed probably null 0.87
R4413:Rhbdl2 UTSW 4 123810087 missense probably benign 0.04
R4749:Rhbdl2 UTSW 4 123826901 critical splice donor site probably null
R5069:Rhbdl2 UTSW 4 123817917 nonsense probably null
R5303:Rhbdl2 UTSW 4 123810221 intron probably benign
R5951:Rhbdl2 UTSW 4 123814327 missense probably benign 0.00
R7147:Rhbdl2 UTSW 4 123810115 missense probably damaging 1.00
R7171:Rhbdl2 UTSW 4 123814256 missense possibly damaging 0.95
R7337:Rhbdl2 UTSW 4 123817866 missense possibly damaging 0.91
R7374:Rhbdl2 UTSW 4 123817865 missense probably benign 0.01
R7411:Rhbdl2 UTSW 4 123829642 missense possibly damaging 0.69
R7718:Rhbdl2 UTSW 4 123824919 missense probably damaging 1.00
Posted On2015-04-16