Incidental Mutation 'R8700:Rhbdf2'
ID 669016
Institutional Source Beutler Lab
Gene Symbol Rhbdf2
Ensembl Gene ENSMUSG00000020806
Gene Name rhomboid 5 homolog 2
Synonyms cub, iRhom2, 4732465I17Rik, Rhbdl6, Uncv
MMRRC Submission 068554-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8700 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 116488991-116517786 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 116498230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103028] [ENSMUST00000103029]
AlphaFold Q80WQ6
Predicted Effect probably benign
Transcript: ENSMUST00000103028
SMART Domains Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806

DomainStartEndE-ValueType
Pfam:Rhomboid_SP 98 306 1.8e-98 PFAM
transmembrane domain 376 398 N/A INTRINSIC
Pfam:Rhomboid 619 763 4.6e-31 PFAM
transmembrane domain 775 797 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103029
SMART Domains Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806

DomainStartEndE-ValueType
Pfam:Rhomboid_SP 98 304 4.7e-97 PFAM
transmembrane domain 376 398 N/A INTRINSIC
Pfam:Rhomboid 619 763 8.1e-31 PFAM
transmembrane domain 775 797 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 98% (59/60)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display impaired TNF secretion and increased sensitivity to bacterial infection induced mortality. [provided by MGI curators]
Allele List at MGI

All alleles(34) : Targeted(4) Gene trapped(30)

Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik T A 11: 50,833,344 (GRCm39) D86V unknown Het
Abtb2 C A 2: 103,397,289 (GRCm39) T73K probably damaging Het
Akr1c14 T C 13: 4,131,157 (GRCm39) probably benign Het
Anapc7 T A 5: 122,560,669 (GRCm39) M10K probably damaging Het
Ano7 T G 1: 93,316,329 (GRCm39) I204S probably damaging Het
Arhgef39 T A 4: 43,496,715 (GRCm39) Q333L probably benign Het
Art5 T C 7: 101,748,862 (GRCm39) probably benign Het
Asah1 T C 8: 41,813,312 (GRCm39) T34A probably benign Het
Atp9b T C 18: 80,796,361 (GRCm39) E894G Het
Atxn7l3 A T 11: 102,184,747 (GRCm39) M126K possibly damaging Het
Cacna2d4 A G 6: 119,258,654 (GRCm39) D580G probably damaging Het
Calcoco2 T A 11: 95,994,330 (GRCm39) K74N probably benign Het
Ccdc163 T C 4: 116,571,348 (GRCm39) probably null Het
Cep164 T C 9: 45,686,667 (GRCm39) probably null Het
Chd7 T A 4: 8,833,892 (GRCm39) N1215K probably damaging Het
Chsy3 T C 18: 59,309,487 (GRCm39) Y247H probably damaging Het
Clec16a A G 16: 10,506,422 (GRCm39) Y714C probably damaging Het
Col12a1 A G 9: 79,527,371 (GRCm39) V2653A probably benign Het
Daam2 T A 17: 49,803,180 (GRCm39) K77N probably damaging Het
Dhx35 T A 2: 158,682,552 (GRCm39) M495K possibly damaging Het
Disp2 T A 2: 118,620,340 (GRCm39) C357* probably null Het
Dnah6 T A 6: 73,052,873 (GRCm39) probably benign Het
Dnah7a T G 1: 53,535,088 (GRCm39) D2724A possibly damaging Het
Entpd5 A T 12: 84,443,508 (GRCm39) D53E probably damaging Het
Fto T A 8: 92,249,461 (GRCm39) I431N probably damaging Het
Gabrr2 T C 4: 33,095,488 (GRCm39) I459T probably damaging Het
Gm5565 T A 5: 146,097,236 (GRCm39) I29F probably damaging Het
Gm9195 C T 14: 72,720,171 (GRCm39) G87R probably damaging Het
Grin2a T C 16: 9,397,412 (GRCm39) S892G probably benign Het
Katnip A G 7: 125,429,042 (GRCm39) probably benign Het
Mki67 T C 7: 135,307,436 (GRCm39) N106S Het
Myo16 T C 8: 10,463,172 (GRCm39) S580P unknown Het
Neo1 A G 9: 58,825,913 (GRCm39) S672P probably benign Het
Nxph3 A T 11: 95,401,706 (GRCm39) V236E probably damaging Het
Or10j7 G T 1: 173,011,429 (GRCm39) P191T probably benign Het
Or7e171-ps1 A C 9: 19,852,996 (GRCm39) L247V unknown Het
Pcdhb14 T C 18: 37,582,652 (GRCm39) V586A probably damaging Het
Peg10 T TCCA 6: 4,756,451 (GRCm39) probably benign Het
Pja2 C T 17: 64,599,949 (GRCm39) D512N probably damaging Het
Ppfibp2 A G 7: 107,345,602 (GRCm39) T875A possibly damaging Het
Ppp3cc C A 14: 70,474,001 (GRCm39) C332F probably damaging Het
Pramel16 T A 4: 143,675,701 (GRCm39) H375L possibly damaging Het
Psg18 A T 7: 18,087,550 (GRCm39) V36D probably damaging Het
Ptprh A G 7: 4,567,190 (GRCm39) S561P probably damaging Het
Ripk2 T A 4: 16,158,422 (GRCm39) N61I possibly damaging Het
Setdb2 T C 14: 59,654,888 (GRCm39) Y318C probably damaging Het
Shc1 A G 3: 89,334,740 (GRCm39) D533G possibly damaging Het
Sirpb1a T C 3: 15,476,419 (GRCm39) E193G probably damaging Het
Slc41a2 T C 10: 83,152,097 (GRCm39) E126G probably damaging Het
Spata31h1 A T 10: 82,127,859 (GRCm39) I1717N possibly damaging Het
Srms C A 2: 180,848,521 (GRCm39) A413S probably damaging Het
Tob2 G T 15: 81,735,802 (GRCm39) R56S probably damaging Het
Unc119 T C 11: 78,238,137 (GRCm39) I105T probably benign Het
Unc13c T C 9: 73,479,679 (GRCm39) I1742V probably benign Het
Vmn1r46 C T 6: 89,953,325 (GRCm39) T58I probably benign Het
Vmn2r81 G T 10: 79,129,517 (GRCm39) V803F probably damaging Het
Zfp365 T C 10: 67,745,535 (GRCm39) K81R possibly damaging Het
Zfp974 G T 7: 27,609,472 (GRCm39) T751K possibly damaging Het
Zfpl1 T C 19: 6,132,464 (GRCm39) N149S probably benign Het
Other mutations in Rhbdf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01069:Rhbdf2 APN 11 116,492,577 (GRCm39) missense possibly damaging 0.80
IGL01464:Rhbdf2 APN 11 116,491,734 (GRCm39) missense probably benign 0.18
IGL02060:Rhbdf2 APN 11 116,491,452 (GRCm39) missense probably damaging 1.00
IGL02211:Rhbdf2 APN 11 116,491,261 (GRCm39) missense possibly damaging 0.49
Lostnf UTSW 11 116,490,987 (GRCm39) missense probably damaging 1.00
Lostnf2 UTSW 11 116,491,017 (GRCm39) missense possibly damaging 0.94
sinecure UTSW 11 116,493,086 (GRCm39) missense probably damaging 0.99
Trapezoid UTSW 11 116,491,974 (GRCm39) missense probably damaging 0.96
R0131:Rhbdf2 UTSW 11 116,496,170 (GRCm39) missense probably damaging 1.00
R0399:Rhbdf2 UTSW 11 116,494,818 (GRCm39) missense probably benign 0.00
R0739:Rhbdf2 UTSW 11 116,490,987 (GRCm39) missense probably damaging 1.00
R1756:Rhbdf2 UTSW 11 116,498,092 (GRCm39) missense probably benign
R1839:Rhbdf2 UTSW 11 116,491,017 (GRCm39) missense possibly damaging 0.94
R2029:Rhbdf2 UTSW 11 116,491,974 (GRCm39) missense probably damaging 0.96
R3833:Rhbdf2 UTSW 11 116,495,250 (GRCm39) missense probably damaging 1.00
R4330:Rhbdf2 UTSW 11 116,492,782 (GRCm39) missense probably benign
R4331:Rhbdf2 UTSW 11 116,493,122 (GRCm39) missense probably damaging 1.00
R4872:Rhbdf2 UTSW 11 116,492,771 (GRCm39) missense probably benign 0.04
R5530:Rhbdf2 UTSW 11 116,491,488 (GRCm39) missense probably damaging 1.00
R5625:Rhbdf2 UTSW 11 116,496,203 (GRCm39) missense probably damaging 0.99
R5841:Rhbdf2 UTSW 11 116,493,180 (GRCm39) unclassified probably benign
R6579:Rhbdf2 UTSW 11 116,495,289 (GRCm39) missense probably benign 0.02
R7047:Rhbdf2 UTSW 11 116,494,477 (GRCm39) critical splice donor site probably null
R7403:Rhbdf2 UTSW 11 116,491,245 (GRCm39) missense probably damaging 1.00
R7743:Rhbdf2 UTSW 11 116,494,775 (GRCm39) missense probably benign
R7743:Rhbdf2 UTSW 11 116,492,427 (GRCm39) missense probably benign 0.04
R7855:Rhbdf2 UTSW 11 116,493,066 (GRCm39) nonsense probably null
R8055:Rhbdf2 UTSW 11 116,498,191 (GRCm39) missense probably benign 0.01
R9052:Rhbdf2 UTSW 11 116,494,758 (GRCm39) missense probably benign 0.00
X0027:Rhbdf2 UTSW 11 116,489,919 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGGAAGCATGCTATCCTGC -3'
(R):5'- CGGCGAGTCTGAGATGTAAATC -3'

Sequencing Primer
(F):5'- ATGCTATCCTGCTCGCCGG -3'
(R):5'- CGAGTCTGAGATGTAAATCAAAGTC -3'
Posted On 2021-04-30