Incidental Mutation 'R4413:Rhbdl2'
ID 328008
Institutional Source Beutler Lab
Gene Symbol Rhbdl2
Ensembl Gene ENSMUSG00000043333
Gene Name rhomboid like 2
Synonyms
MMRRC Submission 041136-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4413 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 123681667-123723697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123703880 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 52 (M52L)
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: M52L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000054546
Gene: ENSMUSG00000043333
AA Change: M52L

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: M52L

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000101810
Gene: ENSMUSG00000043333
AA Change: M52L

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: ENSMUST00000124290
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150286
Meta Mutation Damage Score 0.0729 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 93% (42/45)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adprhl1 T C 8: 13,296,114 (GRCm39) K144E probably benign Het
Bcdin3d A G 15: 99,368,614 (GRCm39) L195P probably damaging Het
Bltp1 A G 3: 37,012,830 (GRCm39) probably null Het
Col11a1 T A 3: 113,901,965 (GRCm39) S553R unknown Het
Cp A T 3: 20,020,517 (GRCm39) D170V probably damaging Het
Dnah17 C T 11: 117,915,994 (GRCm39) A4303T probably benign Het
Dpp4 G A 2: 62,217,484 (GRCm39) R38C possibly damaging Het
Dusp6 C T 10: 99,099,786 (GRCm39) T78M probably damaging Het
Exoc1 A G 5: 76,689,866 (GRCm39) probably benign Het
Fbxl13 A T 5: 21,787,051 (GRCm39) C295* probably null Het
Gpsm1 G A 2: 26,209,843 (GRCm39) probably benign Het
Gstm4 T A 3: 107,950,644 (GRCm39) D85V possibly damaging Het
Hectd4 A G 5: 121,488,544 (GRCm39) N3612D possibly damaging Het
Izumo3 T C 4: 92,035,136 (GRCm39) D27G probably damaging Het
Kcna4 T A 2: 107,125,718 (GRCm39) C151S probably benign Het
Lrrc10 A G 10: 116,881,719 (GRCm39) N131S probably damaging Het
Madd A G 2: 90,997,932 (GRCm39) S699P probably damaging Het
Mcpt4 A T 14: 56,297,993 (GRCm39) V186D probably damaging Het
Mrgprx3-ps T C 7: 46,959,746 (GRCm39) noncoding transcript Het
Mrm1 G T 11: 84,710,054 (GRCm39) R49S possibly damaging Het
Nav2 T A 7: 49,047,857 (GRCm39) N91K probably benign Het
Noct C T 3: 51,157,756 (GRCm39) R365W probably damaging Het
Ntn1 C T 11: 68,276,736 (GRCm39) G71S probably damaging Het
Or10x1 T C 1: 174,197,040 (GRCm39) S186P probably damaging Het
Plekhg3 A C 12: 76,624,538 (GRCm39) T1127P probably damaging Het
Saxo5 T A 8: 3,533,529 (GRCm39) H278Q probably damaging Het
Slc10a1 T C 12: 81,004,906 (GRCm39) N212S probably benign Het
Sohlh2 C A 3: 55,104,423 (GRCm39) T264K probably damaging Het
Srrm2 A G 17: 24,029,442 (GRCm39) probably benign Het
Syn3 C A 10: 85,891,456 (GRCm39) probably benign Het
Taf5 T A 19: 47,059,453 (GRCm39) V199D probably damaging Het
Tas2r136 C A 6: 132,754,972 (GRCm39) V52L probably damaging Het
Tnk2 C T 16: 32,488,319 (GRCm39) R191C probably damaging Het
Ttn A G 2: 76,556,120 (GRCm39) I21968T probably damaging Het
Ubxn6 A T 17: 56,376,303 (GRCm39) V311E probably damaging Het
Usp7 C A 16: 8,526,778 (GRCm39) D187Y probably damaging Het
Vmn1r115 C T 7: 20,578,207 (GRCm39) R235K probably benign Het
Vmn2r50 A C 7: 9,784,235 (GRCm39) F80V probably damaging Het
Vmn2r58 T A 7: 41,511,360 (GRCm39) K481M possibly damaging Het
Vmn2r86 A G 10: 130,288,469 (GRCm39) I344T possibly damaging Het
Vmn2r99 T A 17: 19,599,522 (GRCm39) V402E probably damaging Het
Zfp462 A G 4: 55,012,672 (GRCm39) D1546G 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
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'- CACATTCATGTCTGTTTTAGGCG -3'
(R):5'- AGGCTTCATACGCGCAACTC -3'

Sequencing Primer
(F):5'- TTTTAGGCGGAGGGAGGACC -3'
(R):5'- CCTACATGGTTTCTTCTCTAGGTAGG -3'
Posted On 2015-07-07