Incidental Mutation 'R1820:Rhbdd2'
ID 204779
Institutional Source Beutler Lab
Gene Symbol Rhbdd2
Ensembl Gene ENSMUSG00000039917
Gene Name rhomboid domain containing 2
Synonyms Usmg1, Rhbdl7, 0610011L13Rik
MMRRC Submission 039848-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.094) question?
Stock # R1820 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 135661508-135675230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 135664903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 78 (C78Y)
Ref Sequence ENSEMBL: ENSMUSP00000049060 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043707] [ENSMUST00000136748]
AlphaFold Q8VEK2
Predicted Effect probably damaging
Transcript: ENSMUST00000043707
AA Change: C78Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000049060
Gene: ENSMUSG00000039917
AA Change: C78Y

DomainStartEndE-ValueType
Pfam:Rhomboid 54 204 2.3e-19 PFAM
low complexity region 233 246 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000084599
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119632
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129134
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130647
Predicted Effect probably benign
Transcript: ENSMUST00000136748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144633
Predicted Effect probably benign
Transcript: ENSMUST00000199368
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.5%
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 membrane-bound proteases and is overexpressed in some breast cancers. Members of this family are involved in intramembrane proteolysis. In mouse, the orthologous protein associates with the Golgi body. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,197,018 (GRCm39) V197A possibly damaging Het
9230109A22Rik T C 15: 25,139,176 (GRCm39) noncoding transcript Het
Acbd3 A G 1: 180,572,703 (GRCm39) N321S probably benign Het
Actr3b T C 5: 26,054,156 (GRCm39) probably null Het
Aldh5a1 T C 13: 25,111,555 (GRCm39) D124G probably benign Het
Arhgap35 G A 7: 16,295,874 (GRCm39) R1064W possibly damaging Het
Arhgef9 T A X: 94,125,142 (GRCm39) I225F probably damaging Het
Arl16 T C 11: 120,357,587 (GRCm39) T43A probably damaging Het
Camsap3 T C 8: 3,653,485 (GRCm39) W409R probably damaging Het
Cfap43 T A 19: 47,885,655 (GRCm39) H320L probably damaging Het
Chac2 T A 11: 30,927,496 (GRCm39) N141I probably damaging Het
Chtf18 C A 17: 25,944,913 (GRCm39) G211C probably damaging Het
Cplane1 A G 15: 8,299,129 (GRCm39) K3106E unknown Het
Cwf19l1 T A 19: 44,115,826 (GRCm39) Y201F probably benign Het
Dcun1d1 A T 3: 35,973,153 (GRCm39) L114* probably null Het
Fdps A T 3: 89,002,350 (GRCm39) H249Q probably benign Het
Fhip1a T A 3: 85,573,136 (GRCm39) T938S probably damaging Het
Gabrg1 T A 5: 70,931,756 (GRCm39) Y329F probably damaging Het
Kctd8 T A 5: 69,497,684 (GRCm39) I321F probably damaging Het
Kdm5b G T 1: 134,525,408 (GRCm39) R299L possibly damaging Het
Kif23 T C 9: 61,833,720 (GRCm39) T494A possibly damaging Het
Kmt2e A G 5: 23,678,545 (GRCm39) H208R probably damaging Het
Lipo5 A T 19: 33,441,995 (GRCm39) probably null Het
Lrrc28 G T 7: 67,290,859 (GRCm39) T54K probably damaging Het
Luc7l2 G A 6: 38,575,754 (GRCm39) probably null Het
Man2a2 A G 7: 80,008,681 (GRCm39) F899L probably benign Het
Myo9b T C 8: 71,786,002 (GRCm39) I633T probably damaging Het
Nynrin A T 14: 56,107,835 (GRCm39) I981F possibly damaging Het
Or5an1c A T 19: 12,218,612 (GRCm39) S138T probably damaging Het
Or8g28 A G 9: 39,169,695 (GRCm39) I91T possibly damaging Het
Pank1 A G 19: 34,855,084 (GRCm39) probably null Het
Phc2 C T 4: 128,637,336 (GRCm39) A47V probably damaging Het
Plekhs1 A G 19: 56,466,954 (GRCm39) R262G possibly damaging Het
Pnp2 C A 14: 51,201,914 (GRCm39) P300Q possibly damaging Het
Polq T A 16: 36,849,780 (GRCm39) S345T possibly damaging Het
Prag1 A G 8: 36,570,958 (GRCm39) T514A probably benign Het
Psmd5 T C 2: 34,760,758 (GRCm39) probably null Het
Rfx6 T G 10: 51,599,221 (GRCm39) probably null Het
Rnf157 G T 11: 116,245,477 (GRCm39) P313T probably damaging Het
Ryr2 A G 13: 11,602,202 (GRCm39) L4560P probably damaging Het
Scai A T 2: 38,996,990 (GRCm39) M268K possibly damaging Het
Scd3 A T 19: 44,230,245 (GRCm39) T343S probably benign Het
Scimp A T 11: 70,682,423 (GRCm39) S98T probably benign Het
Sfrp2 A G 3: 83,680,461 (GRCm39) N207S probably benign Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sis T C 3: 72,828,475 (GRCm39) Y1200C probably damaging Het
Sp1 T A 15: 102,317,511 (GRCm39) S343R possibly damaging Het
Spata31d1a A T 13: 59,849,069 (GRCm39) C1020S possibly damaging Het
Spink5 A G 18: 44,122,486 (GRCm39) N317S possibly damaging Het
Sptbn2 A G 19: 4,776,624 (GRCm39) D224G probably damaging Het
St8sia3 T C 18: 64,402,703 (GRCm39) I114T probably damaging Het
Zscan5b C A 7: 6,242,162 (GRCm39) H460Q probably damaging Het
Other mutations in Rhbdd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R5081:Rhbdd2 UTSW 5 135,664,876 (GRCm39) missense probably damaging 1.00
R6268:Rhbdd2 UTSW 5 135,672,114 (GRCm39) missense probably benign 0.13
R6793:Rhbdd2 UTSW 5 135,665,008 (GRCm39) missense probably damaging 0.98
R7481:Rhbdd2 UTSW 5 135,665,031 (GRCm39) missense possibly damaging 0.87
R7894:Rhbdd2 UTSW 5 135,667,969 (GRCm39) splice site probably null
R8139:Rhbdd2 UTSW 5 135,665,189 (GRCm39) nonsense probably null
R8795:Rhbdd2 UTSW 5 135,663,985 (GRCm39) missense probably benign 0.13
Predicted Primers PCR Primer
(F):5'- TGAATCATGGGCACTTTCCTGTTC -3'
(R):5'- CGAAAGCTACTGGGGTGAAC -3'

Sequencing Primer
(F):5'- TCTAAATTCCCAGTGTAGCCGAGAG -3'
(R):5'- GGTGAACCCTCTGGCATC -3'
Posted On 2014-06-23