Incidental Mutation 'R7147:Rhbdl2'
ID 553861
Institutional Source Beutler Lab
Gene Symbol Rhbdl2
Ensembl Gene ENSMUSG00000043333
Gene Name rhomboid like 2
Synonyms
MMRRC Submission 045224-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7147 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 123681667-123723697 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 123703908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 61 (Y61F)
Ref Sequence ENSEMBL: ENSMUSP00000054546 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053202] [ENSMUST00000106204]
AlphaFold A2AGA4
Predicted Effect probably damaging
Transcript: ENSMUST00000053202
AA Change: Y61F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054546
Gene: ENSMUSG00000043333
AA Change: Y61F

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: Y61F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101810
Gene: ENSMUSG00000043333
AA Change: Y61F

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 C T 14: 56,017,182 (GRCm39) G303D probably damaging Het
Adgra3 C T 5: 50,118,587 (GRCm39) G987D probably damaging Het
Akap11 A G 14: 78,748,905 (GRCm39) S1161P Het
Ampd3 G A 7: 110,404,059 (GRCm39) E528K probably damaging Het
Arl8b G A 6: 108,791,976 (GRCm39) R79Q probably damaging Het
Atf4 AAGCGGGCTGAGC AAGC 15: 80,141,500 (GRCm39) probably benign Het
Cald1 A T 6: 34,723,231 (GRCm39) Q105L Het
Casd1 T C 6: 4,624,187 (GRCm39) Y327H probably benign Het
Chodl T A 16: 78,743,629 (GRCm39) C239S probably damaging Het
D130043K22Rik A T 13: 25,066,546 (GRCm39) H781L probably benign Het
Dlg1 A T 16: 31,610,672 (GRCm39) M318L probably benign Het
Dlgap1 T C 17: 70,969,753 (GRCm39) S520P probably benign Het
Dmxl2 T C 9: 54,324,013 (GRCm39) I950V probably benign Het
Dnah17 T A 11: 117,985,755 (GRCm39) T1441S probably benign Het
Dock7 A T 4: 98,849,654 (GRCm39) N1638K unknown Het
Ect2 A T 3: 27,204,239 (GRCm39) D23E probably benign Het
Ephx1 T A 1: 180,829,384 (GRCm39) T55S probably damaging Het
F11 T C 8: 45,703,183 (GRCm39) Y169C probably damaging Het
Fbxw27 A G 9: 109,618,391 (GRCm39) probably null Het
Fhl5 T A 4: 25,213,777 (GRCm39) probably null Het
Gm5145 G A 17: 20,791,323 (GRCm39) E234K probably damaging Het
Gpr39 G A 1: 125,800,238 (GRCm39) D330N possibly damaging Het
Greb1 C T 12: 16,783,428 (GRCm39) R102H probably damaging Het
H4c17 A G 13: 21,996,159 (GRCm39) D69G probably damaging Het
Ighmbp2 T C 19: 3,321,676 (GRCm39) K361R probably benign Het
Inpp4b A G 8: 82,629,400 (GRCm39) D245G probably damaging Het
Ints14 T C 9: 64,891,267 (GRCm39) V416A possibly damaging Het
Kif21a A G 15: 90,865,086 (GRCm39) S529P probably benign Het
Limk1 A G 5: 134,686,195 (GRCm39) M609T probably benign Het
Lrrc75a G A 11: 62,496,795 (GRCm39) P256S probably damaging Het
Mcc T C 18: 44,626,580 (GRCm39) R339G probably damaging Het
Mdga1 C T 17: 30,065,495 (GRCm39) W371* probably null Het
Mei4 T A 9: 81,809,649 (GRCm39) L244Q probably damaging Het
Mical2 C T 7: 111,922,810 (GRCm39) P605L possibly damaging Het
Mrgprf G T 7: 144,862,128 (GRCm39) R230L possibly damaging Het
Nlgn1 T A 3: 26,187,509 (GRCm39) R125S probably benign Het
Or52h7 A G 7: 104,213,273 (GRCm39) probably benign Het
Papola A T 12: 105,774,897 (GRCm39) probably benign Het
Pold2 T C 11: 5,823,095 (GRCm39) D360G probably benign Het
Prr12 T C 7: 44,683,274 (GRCm39) R1797G unknown Het
Psmg2 C T 18: 67,786,338 (GRCm39) P233S probably benign Het
Ptprh A G 7: 4,553,781 (GRCm39) W857R probably damaging Het
Raet1e A T 10: 22,057,179 (GRCm39) M168L probably benign Het
Sacm1l A G 9: 123,398,016 (GRCm39) N236S probably damaging Het
Sbf2 A T 7: 110,046,268 (GRCm39) S310T probably benign Het
Sdr42e2 A T 7: 120,412,238 (GRCm39) R33S probably damaging Het
Sh3d19 T A 3: 86,011,584 (GRCm39) I390N possibly damaging Het
Slco3a1 A G 7: 74,154,042 (GRCm39) Y177H probably damaging Het
Smo G A 6: 29,758,448 (GRCm39) G531D possibly damaging Het
Snx25 A C 8: 46,558,233 (GRCm39) V258G probably damaging Het
Spata31d1b T A 13: 59,866,028 (GRCm39) S1059T probably benign Het
Srgap2 C T 1: 131,238,332 (GRCm39) C274Y Het
Srrm1 A G 4: 135,074,137 (GRCm39) I48T probably damaging Het
Syne1 A T 10: 5,199,340 (GRCm39) V3719E probably damaging Het
Tcerg1 T A 18: 42,683,128 (GRCm39) M616K probably benign Het
Tgtp2 G C 11: 48,950,135 (GRCm39) R146G probably damaging Het
Tie1 A T 4: 118,341,610 (GRCm39) V234D probably damaging Het
Tom1 A G 8: 75,783,895 (GRCm39) N293S probably damaging Het
Trim13 A T 14: 61,842,080 (GRCm39) K32N probably damaging Het
Trim6 G A 7: 103,874,777 (GRCm39) V5I probably benign Het
Vps11 A T 9: 44,266,379 (GRCm39) L436* probably null Het
Vps50 C T 6: 3,567,750 (GRCm39) Q549* probably null Het
Vtcn1 T A 3: 100,791,210 (GRCm39) F83I probably damaging Het
Zfp131 T C 13: 120,228,079 (GRCm39) T523A probably benign Het
Zfp758 A T 17: 22,594,981 (GRCm39) Y489F possibly damaging Het
Zfp804a T C 2: 82,088,531 (GRCm39) Y787H probably benign Het
Zfp9 C T 6: 118,441,963 (GRCm39) C233Y 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
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'- TGCTCACGAGATGGAGATGG -3'
(R):5'- CAGTGACTGGGCAAATCAGC -3'

Sequencing Primer
(F):5'- TGGAGAGTGTGAATCTGAACATG -3'
(R):5'- GAGGCTTCATACGCGCAACTC -3'
Posted On 2019-05-15