Incidental Mutation 'R0739:Rhbdf2'
ID 70632
Institutional Source Beutler Lab
Gene Symbol Rhbdf2
Ensembl Gene ENSMUSG00000020806
Gene Name rhomboid 5 homolog 2
Synonyms cub, iRhom2, 4732465I17Rik, Rhbdl6, Uncv
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 116488991-116517786 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 116490987 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 655 (L655Q)
Ref Sequence ENSEMBL: ENSMUSP00000099318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021160] [ENSMUST00000103028] [ENSMUST00000103029] [ENSMUST00000123507] [ENSMUST00000153476]
AlphaFold Q80WQ6
Predicted Effect probably benign
Transcript: ENSMUST00000021160
SMART Domains Protein: ENSMUSP00000021160
Gene: ENSMUSG00000020804

DomainStartEndE-ValueType
PDB:1KUY|A 3 104 1e-50 PDB
SCOP:d1cjwa_ 28 103 4e-11 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103028
AA Change: L655Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099317
Gene: ENSMUSG00000020806
AA Change: L655Q

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 damaging
Transcript: ENSMUST00000103029
AA Change: L655Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099318
Gene: ENSMUSG00000020806
AA Change: L655Q

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
Predicted Effect probably benign
Transcript: ENSMUST00000123507
SMART Domains Protein: ENSMUSP00000115999
Gene: ENSMUSG00000020804

DomainStartEndE-ValueType
PDB:1IB1|H 3 53 6e-16 PDB
SCOP:d1cjwa_ 28 59 1e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126819
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132601
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138125
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142978
Predicted Effect probably benign
Transcript: ENSMUST00000153476
SMART Domains Protein: ENSMUSP00000122895
Gene: ENSMUSG00000020804

DomainStartEndE-ValueType
Pfam:Acetyltransf_1 82 172 4.1e-14 PFAM
Meta Mutation Damage Score 0.9674 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pcyt2 A G 11: 120,502,870 (GRCm39) L257P probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S probably damaging 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
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
R8700:Rhbdf2 UTSW 11 116,498,230 (GRCm39) start gained probably benign
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'- TCCTGACAAGCCACAATGGTCCTC -3'
(R):5'- AGAACTACTGACCCTGTGTCTCCC -3'

Sequencing Primer
(F):5'- ATGGTCCTCCCCATATGTTATAAAGC -3'
(R):5'- TAAGAGGCACCCTGTTGC -3'
Posted On 2013-09-30