Incidental Mutation 'R8152:Rhbdl2'
ID 633001
Institutional Source Beutler Lab
Gene Symbol Rhbdl2
Ensembl Gene ENSMUSG00000043333
Gene Name rhomboid like 2
Synonyms
MMRRC Submission 067578-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8152 (G1)
Quality Score 176.009
Status Validated
Chromosome 4
Chromosomal Location 123681667-123723697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123718711 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 222 (I222L)
Ref Sequence ENSEMBL: ENSMUSP00000054546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053202] [ENSMUST00000106204]
AlphaFold A2AGA4
Predicted Effect probably benign
Transcript: ENSMUST00000053202
AA Change: I222L

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000054546
Gene: ENSMUSG00000043333
AA Change: I222L

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: I222L

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000101810
Gene: ENSMUSG00000043333
AA Change: I222L

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
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 92.4%
Validation Efficiency 99% (74/75)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,044,305 (GRCm39) L195P probably damaging Het
Adgrb1 T C 15: 74,413,460 (GRCm39) V548A probably benign Het
Adgrb1 T C 15: 74,416,849 (GRCm39) I752T probably damaging Het
Adgrb3 T C 1: 25,260,838 (GRCm39) probably null Het
Adh6a G T 3: 138,033,275 (GRCm39) probably null Het
Aldh18a1 A G 19: 40,553,456 (GRCm39) S431P probably benign Het
Arap3 T C 18: 38,124,410 (GRCm39) R310G possibly damaging Het
Atad5 T C 11: 79,985,996 (GRCm39) V361A possibly damaging Het
Atp8a1 C A 5: 67,919,925 (GRCm39) M380I Het
Calcrl C T 2: 84,169,593 (GRCm39) V363M possibly damaging Het
Camsap1 G T 2: 25,830,253 (GRCm39) D490E probably damaging Het
Cd72 T A 4: 43,452,601 (GRCm39) I131F possibly damaging Het
Cdh2 C T 18: 16,762,576 (GRCm39) G513D probably benign Het
Cela1 T C 15: 100,580,822 (GRCm39) T145A probably benign Het
Cep250 A G 2: 155,811,227 (GRCm39) T358A probably benign Het
Cfap99 C T 5: 34,480,735 (GRCm39) R462C probably damaging Het
Cmtm1 A G 8: 105,036,573 (GRCm39) S19P possibly damaging Het
Crebbp A T 16: 3,902,945 (GRCm39) M2098K possibly damaging Het
Csmd3 T C 15: 47,532,860 (GRCm39) probably null Het
Ctsm C G 13: 61,687,463 (GRCm39) V100L probably benign Het
Cyp2c67 C A 19: 39,628,452 (GRCm39) C164F probably benign Het
Cyp2d11 T C 15: 82,276,688 (GRCm39) I84V probably benign Het
Cyp2j11 T C 4: 96,195,529 (GRCm39) D389G probably damaging Het
Dctd A G 8: 48,564,725 (GRCm39) D9G probably benign Het
Fam221a C A 6: 49,355,490 (GRCm39) F197L probably damaging Het
Fbxl4 T G 4: 22,427,225 (GRCm39) C489G possibly damaging Het
Fmn1 C T 2: 113,196,037 (GRCm39) T579M unknown Het
Fndc3a G A 14: 72,811,820 (GRCm39) L337F probably damaging Het
Frmpd2 A G 14: 33,265,244 (GRCm39) probably null Het
Gdnf C T 15: 7,864,243 (GRCm39) S218L probably damaging Het
Gen1 A G 12: 11,293,266 (GRCm39) F444L probably damaging Het
Gk5 A T 9: 96,056,756 (GRCm39) D391V probably damaging Het
Gys2 T C 6: 142,373,136 (GRCm39) T612A probably benign Het
Il17ra A G 6: 120,459,063 (GRCm39) D738G probably benign Het
Isx T C 8: 75,616,627 (GRCm39) F85L probably damaging Het
Kcnh5 T C 12: 74,944,633 (GRCm39) D872G possibly damaging Het
Kif26b T G 1: 178,506,794 (GRCm39) V290G possibly damaging Het
Ksr2 T C 5: 117,809,523 (GRCm39) C429R probably damaging Het
Loxhd1 A C 18: 77,476,095 (GRCm39) I1121L possibly damaging Het
Map2 T C 1: 66,453,902 (GRCm39) F931L probably benign Het
Mepce T C 5: 137,782,935 (GRCm39) I464V probably benign Het
Mpo G T 11: 87,692,475 (GRCm39) V538L probably benign Het
Mtarc2 T A 1: 184,573,509 (GRCm39) M130L possibly damaging Het
Mtrex T A 13: 113,009,517 (GRCm39) K961* probably null Het
Myom1 T C 17: 71,391,290 (GRCm39) V933A probably damaging Het
Nckap1l T G 15: 103,386,957 (GRCm39) probably null Het
Ncmap C A 4: 135,104,375 (GRCm39) M19I possibly damaging Het
Neb T A 2: 52,073,848 (GRCm39) I5920F probably benign Het
Nnt C T 13: 119,511,212 (GRCm39) V355I probably benign Het
Nr1i2 C T 16: 38,073,326 (GRCm39) G217S probably damaging Het
Nsd1 A G 13: 55,458,180 (GRCm39) R2098G possibly damaging Het
Parp4 A G 14: 56,884,703 (GRCm39) T1261A probably benign Het
Pcgf3 A T 5: 108,635,723 (GRCm39) N131I probably benign Het
Plcb2 C T 2: 118,541,302 (GRCm39) D1012N probably benign Het
Plcl2 T C 17: 50,914,689 (GRCm39) I566T probably damaging Het
Plekha1 G A 7: 130,510,102 (GRCm39) A283T probably damaging Het
Prag1 A T 8: 36,567,079 (GRCm39) M77L possibly damaging Het
Rnh1 A C 7: 140,740,617 (GRCm39) V446G probably damaging Het
Sash1 C T 10: 8,626,805 (GRCm39) R193H possibly damaging Het
Sgf29 G T 7: 126,271,826 (GRCm39) V284L possibly damaging Het
Slc12a3 G A 8: 95,057,012 (GRCm39) G95D probably benign Het
Slc17a7 T C 7: 44,819,714 (GRCm39) V172A probably damaging Het
Spta1 T C 1: 174,045,510 (GRCm39) V1556A probably benign Het
Tex15 G A 8: 34,062,921 (GRCm39) E784K possibly damaging Het
Ttn T C 2: 76,673,132 (GRCm39) E11224G unknown Het
Wipf1 G A 2: 73,267,879 (GRCm39) P173L possibly damaging Het
Zdbf2 C T 1: 63,345,572 (GRCm39) T1317I possibly damaging Het
Zfat C T 15: 67,973,355 (GRCm39) A1147T probably benign Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zhx3 T G 2: 160,622,695 (GRCm39) I491L probably benign Het
Zranb3 T C 1: 127,882,732 (GRCm39) D1061G probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CCAAAGTAGAGCAGCACTGG -3'
(R):5'- CTAAGTGAAGCTATTGTGAGAGGC -3'

Sequencing Primer
(F):5'- GTCTTTAATCCCAGCACTCAGGAGG -3'
(R):5'- CTATTGTGAGAGGCAAGACGCAC -3'
Posted On 2020-06-30