Incidental Mutation 'R7042:Rem2'
ID 547127
Institutional Source Beutler Lab
Gene Symbol Rem2
Ensembl Gene ENSMUSG00000022176
Gene Name rad and gem related GTP binding protein 2
Synonyms
MMRRC Submission 045141-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.091) question?
Stock # R7042 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 54713557-54717888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 54715548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 171 (I171N)
Ref Sequence ENSEMBL: ENSMUSP00000127199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164697] [ENSMUST00000164766]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000164697
SMART Domains Protein: ENSMUSP00000132998
Gene: ENSMUSG00000022176

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
low complexity region 56 68 N/A INTRINSIC
SCOP:d1f6ba_ 107 135 5e-5 SMART
PDB:3Q85|B 114 149 3e-17 PDB
Predicted Effect probably damaging
Transcript: ENSMUST00000164766
AA Change: I171N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000127199
Gene: ENSMUSG00000022176
AA Change: I171N

DomainStartEndE-ValueType
low complexity region 1 13 N/A INTRINSIC
low complexity region 56 68 N/A INTRINSIC
low complexity region 90 108 N/A INTRINSIC
Pfam:Roc 117 234 3e-11 PFAM
Pfam:Ras 117 280 4.8e-31 PFAM
low complexity region 292 303 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000131989
Gene: ENSMUSG00000022176
AA Change: I136N

DomainStartEndE-ValueType
low complexity region 22 34 N/A INTRINSIC
low complexity region 56 74 N/A INTRINSIC
Pfam:Ras 83 140 2.7e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (54/54)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 A G 17: 57,192,098 (GRCm39) S554G possibly damaging Het
Adcy7 G T 8: 89,042,378 (GRCm39) R415L probably damaging Het
Aox1 A T 1: 58,141,759 (GRCm39) I1182F probably damaging Het
Ccdc7b T A 8: 129,811,730 (GRCm39) Y147N probably benign Het
Clcnka A G 4: 141,118,691 (GRCm39) I398T probably damaging Het
Cst8 T A 2: 148,641,796 (GRCm39) probably null Het
Dcxr T C 11: 120,617,841 (GRCm39) D45G possibly damaging Het
Dhx38 A T 8: 110,283,617 (GRCm39) M510K possibly damaging Het
Dync2i1 T C 12: 116,218,061 (GRCm39) I182M probably benign Het
Ebf1 T A 11: 44,882,338 (GRCm39) H431Q probably damaging Het
Eml4 T C 17: 83,768,999 (GRCm39) I681T probably damaging Het
Etf1 T C 18: 35,043,219 (GRCm39) N164S probably benign Het
Fmo2 A G 1: 162,708,226 (GRCm39) V303A probably damaging Het
Foxl2 T A 9: 98,837,715 (GRCm39) M1K probably null Het
Gm3404 A T 5: 146,462,969 (GRCm39) E50D probably benign Het
Gpr61 G A 3: 108,058,647 (GRCm39) P5S possibly damaging Het
Hcrtr1 A G 4: 130,024,653 (GRCm39) probably benign Het
Ier3ip1 T A 18: 77,017,828 (GRCm39) F3I possibly damaging Het
Ifi206 G A 1: 173,308,808 (GRCm39) P396L Het
Ifi209 G A 1: 173,470,236 (GRCm39) V275I probably benign Het
Ighv1-69 T C 12: 115,586,909 (GRCm39) S75G probably benign Het
Kcnj3 A T 2: 55,484,877 (GRCm39) H325L possibly damaging Het
Klrk1 A T 6: 129,593,734 (GRCm39) S50T possibly damaging Het
Mfsd4b4 T A 10: 39,768,514 (GRCm39) Y193F probably damaging Het
Nlrp5 A G 7: 23,116,905 (GRCm39) I210V possibly damaging Het
Or4p20 T A 2: 88,253,746 (GRCm39) I208F possibly damaging Het
Or5w12 A T 2: 87,501,935 (GRCm39) Y259N possibly damaging Het
Or8b3 G T 9: 38,314,196 (GRCm39) G6C probably damaging Het
Or8d23 A G 9: 38,841,622 (GRCm39) S52G possibly damaging Het
Pax6 A T 2: 105,526,718 (GRCm39) H208L probably benign Het
Pgc C A 17: 48,044,745 (GRCm39) Q331K probably benign Het
Phldb1 A G 9: 44,605,721 (GRCm39) S370P probably damaging Het
Pi4k2a T C 19: 42,093,337 (GRCm39) I226T probably benign Het
Pick1 T C 15: 79,132,965 (GRCm39) S342P probably damaging Het
Plscr1 A G 9: 92,153,588 (GRCm39) M312V probably damaging Het
Ppp3cc T G 14: 70,462,468 (GRCm39) K399Q probably benign Het
Qpctl T C 7: 18,880,943 (GRCm39) H163R probably benign Het
Rab11fip5 A G 6: 85,351,110 (GRCm39) V134A possibly damaging Het
Rasal1 T A 5: 120,802,025 (GRCm39) probably null Het
Sec22a T A 16: 35,149,885 (GRCm39) I214L probably benign Het
Setbp1 T C 18: 79,130,070 (GRCm39) D54G probably damaging Het
Slc27a2 C T 2: 126,409,700 (GRCm39) A294V probably damaging Het
Slfn14 T A 11: 83,167,430 (GRCm39) D695V probably damaging Het
Smc6 T A 12: 11,359,301 (GRCm39) I975K probably damaging Het
Spice1 T C 16: 44,206,043 (GRCm39) F835L probably benign Het
Tars2 A T 3: 95,658,057 (GRCm39) H222Q probably benign Het
Tmtc2 A T 10: 105,206,477 (GRCm39) F273I probably damaging Het
Ttc39d C A 17: 80,523,891 (GRCm39) D183E probably benign Het
Vasp A G 7: 18,995,946 (GRCm39) S128P probably benign Het
Vcpip1 A G 1: 9,818,378 (GRCm39) S2P unknown Het
Vmn2r98 T C 17: 19,301,184 (GRCm39) Y729H probably benign Het
Wdr18 A T 10: 79,801,944 (GRCm39) D243V probably benign Het
Xirp2 T C 2: 67,343,633 (GRCm39) V1958A probably benign Het
Zfp451 A T 1: 33,816,474 (GRCm39) M492K probably damaging Het
Zfp804b A G 5: 6,820,042 (GRCm39) I1007T probably benign Het
Other mutations in Rem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03158:Rem2 APN 14 54,716,415 (GRCm39) missense probably benign 0.01
R0110:Rem2 UTSW 14 54,713,754 (GRCm39) unclassified probably benign
R0450:Rem2 UTSW 14 54,713,754 (GRCm39) unclassified probably benign
R0510:Rem2 UTSW 14 54,713,754 (GRCm39) unclassified probably benign
R1562:Rem2 UTSW 14 54,713,775 (GRCm39) missense probably benign 0.00
R1673:Rem2 UTSW 14 54,713,766 (GRCm39) unclassified probably benign
R1718:Rem2 UTSW 14 54,716,607 (GRCm39) missense probably damaging 1.00
R2878:Rem2 UTSW 14 54,713,819 (GRCm39) missense possibly damaging 0.92
R4569:Rem2 UTSW 14 54,715,116 (GRCm39) missense probably damaging 1.00
R4570:Rem2 UTSW 14 54,715,116 (GRCm39) missense probably damaging 1.00
R4571:Rem2 UTSW 14 54,715,116 (GRCm39) missense probably damaging 1.00
R6045:Rem2 UTSW 14 54,715,225 (GRCm39) missense probably damaging 1.00
R6521:Rem2 UTSW 14 54,715,144 (GRCm39) missense possibly damaging 0.72
R7861:Rem2 UTSW 14 54,715,256 (GRCm39) missense probably damaging 1.00
Z1177:Rem2 UTSW 14 54,717,038 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CATTGTGAACAGTCCCTGGAG -3'
(R):5'- CAGCTCTGAGCCAAGATAGG -3'

Sequencing Primer
(F):5'- CATTGCTTTCTATGAAGTTTGCCTG -3'
(R):5'- ATAGGCCTGCCAAGGTGG -3'
Posted On 2019-05-13