Incidental Mutation 'R7374:Rhbdl2'
ID 572260
Institutional Source Beutler Lab
Gene Symbol Rhbdl2
Ensembl Gene ENSMUSG00000043333
Gene Name rhomboid like 2
Synonyms
MMRRC Submission 045457-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7374 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 123681667-123723697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 123711658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 132 (V132L)
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: V132L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000054546
Gene: ENSMUSG00000043333
AA Change: V132L

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: V132L

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000101810
Gene: ENSMUSG00000043333
AA Change: V132L

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,242,136 (GRCm39) T1333I possibly damaging Het
Abcd4 A T 12: 84,653,017 (GRCm39) L395* probably null Het
Cdh23 G A 10: 60,153,679 (GRCm39) R2304W probably damaging Het
Ckap2l T C 2: 129,126,883 (GRCm39) T432A probably damaging Het
Cplane1 T A 15: 8,276,731 (GRCm39) W2792R unknown Het
Cyp2c68 T C 19: 39,727,648 (GRCm39) probably null Het
Ddx51 C A 5: 110,804,998 (GRCm39) T580K probably damaging Het
Fbxo44 T A 4: 148,241,094 (GRCm39) D112V probably benign Het
Ffar2 T C 7: 30,519,465 (GRCm39) N25S probably damaging Het
Gas6 A T 8: 13,524,802 (GRCm39) V330D probably damaging Het
Gfpt1 A G 6: 87,027,959 (GRCm39) T22A probably benign Het
Gm3371 A G 14: 44,641,240 (GRCm39) V108A Het
Gm8257 T C 14: 44,887,740 (GRCm39) E215G probably benign Het
Gria1 T A 11: 57,080,634 (GRCm39) S206T probably benign Het
Gria2 T C 3: 80,648,383 (GRCm39) T118A probably benign Het
Hfe T G 13: 23,890,030 (GRCm39) T248P probably damaging Het
Kdm5d T C Y: 941,491 (GRCm39) W1231R probably benign Het
Ltbp2 C T 12: 84,876,949 (GRCm39) D419N probably damaging Het
Mei1 G A 15: 81,980,109 (GRCm39) A232T Het
Mgam G A 6: 40,734,373 (GRCm39) E1473K possibly damaging Het
Mtbp A C 15: 55,426,355 (GRCm39) E99A possibly damaging Het
Muc5b A T 7: 141,416,863 (GRCm39) T3270S probably benign Het
Myl2 A G 5: 122,239,726 (GRCm39) Y28C Het
Nrxn1 A G 17: 90,896,097 (GRCm39) probably null Het
Ntn4 A G 10: 93,518,434 (GRCm39) H247R probably benign Het
Numa1 T C 7: 101,658,335 (GRCm39) V1568A probably benign Het
Nyap1 C T 5: 137,733,791 (GRCm39) G414D probably damaging Het
Or5p68 A G 7: 107,946,095 (GRCm39) F31S probably damaging Het
Or8k25 C A 2: 86,244,196 (GRCm39) A67S probably benign Het
Pdgfrb G A 18: 61,204,780 (GRCm39) V547I possibly damaging Het
Pom121l12 A T 11: 14,549,962 (GRCm39) M223L probably benign Het
Prps1l1 T C 12: 35,035,424 (GRCm39) S180P possibly damaging Het
Ptprf A G 4: 118,114,689 (GRCm39) S189P probably damaging Het
Radil G A 5: 142,471,235 (GRCm39) R1014W probably damaging Het
Rfx5 C T 3: 94,866,053 (GRCm39) P451S unknown Het
Slc15a2 G T 16: 36,572,207 (GRCm39) T719K probably benign Het
Slc9a9 A G 9: 94,937,542 (GRCm39) T465A possibly damaging Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Sv2a A T 3: 96,095,525 (GRCm39) Y306F probably benign Het
Sv2c A T 13: 96,125,644 (GRCm39) H364Q probably damaging Het
Tmem181a T A 17: 6,354,533 (GRCm39) L401Q possibly damaging Het
Trav9d-4 A G 14: 53,221,300 (GRCm39) Y98C probably damaging Het
Trim33 T A 3: 103,217,639 (GRCm39) C195S probably damaging Het
Uroc1 T C 6: 90,315,815 (GRCm39) Y191H probably damaging Het
Usp9y T C Y: 1,381,305 (GRCm39) I839V probably benign Het
Vmn1r52 A T 6: 90,156,118 (GRCm39) I141F probably benign Het
Vmn1r59 T C 7: 5,457,160 (GRCm39) H200R probably damaging Het
Vmn2r68 A T 7: 84,881,607 (GRCm39) M491K possibly damaging Het
Vmn2r74 T C 7: 85,606,630 (GRCm39) I239V probably benign Het
Wrn A C 8: 33,758,939 (GRCm39) C1006W 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
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'- GCAAAATAGAAGAGTCGCCTTC -3'
(R):5'- TTGGTTTCCATCCTAAGAGCCC -3'

Sequencing Primer
(F):5'- GGACTGCAGCTTTGATCCTAAGAC -3'
(R):5'- AGAGCCCAAAAGTGTTTGTTCCG -3'
Posted On 2019-09-13