Incidental Mutation 'R1718:Rem2'
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ID191229
Institutional Source Beutler Lab
Gene Symbol Rem2
Ensembl Gene ENSMUSG00000022176
Gene Namerad and gem related GTP binding protein 2
Synonyms
MMRRC Submission 039751-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #R1718 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location54476100-54480431 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54479150 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 240 (V240A)
Ref Sequence ENSEMBL: ENSMUSP00000127199 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164697] [ENSMUST00000164766]
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: V240A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000127199
Gene: ENSMUSG00000022176
AA Change: V240A

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 probably benign
Transcript: ENSMUST00000168930
SMART Domains Protein: ENSMUSP00000131989
Gene: ENSMUSG00000022176

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170337
Meta Mutation Damage Score 0.242 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.5%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik G T 13: 77,245,370 probably benign Het
Acot3 T G 12: 84,053,943 probably null Het
Acox1 A T 11: 116,174,682 C523* probably null Het
Adamts19 G A 18: 58,972,825 C764Y probably damaging Het
Agrn GCTCT GCTCTCT 4: 156,166,519 probably null Het
Apob A G 12: 8,016,087 K4319R probably benign Het
AU016765 A C 17: 64,555,438 noncoding transcript Het
Bpifb1 T A 2: 154,213,983 probably null Het
Btn2a2 A G 13: 23,481,936 V242A probably benign Het
Camta1 A G 4: 151,084,024 S1281P probably benign Het
Ccdc116 T C 16: 17,141,908 K306E probably benign Het
Cemip A G 7: 83,935,658 V1350A probably benign Het
Clip2 A T 5: 134,502,929 L674* probably null Het
Cyp2d12 T A 15: 82,558,050 D244E probably benign Het
Cyp4x1 A G 4: 115,111,670 V379A possibly damaging Het
Dnah9 T A 11: 66,168,079 H130L possibly damaging Het
Enpp7 A G 11: 118,990,983 Y318C probably damaging Het
Fras1 A T 5: 96,554,889 probably null Het
Glra3 G T 8: 55,940,907 A18S probably benign Het
Gm28042 T A 2: 120,036,391 S172T possibly damaging Het
Gm7808 T A 9: 19,928,003 probably benign Het
Gm8909 A G 17: 36,161,784 probably benign Het
Gpr61 C T 3: 108,150,380 V322M possibly damaging Het
Hapln3 A G 7: 79,123,450 V15A unknown Het
Ip6k1 G A 9: 108,040,996 E77K possibly damaging Het
Klk1b4 A G 7: 44,209,672 Y38C probably damaging Het
Lrrfip1 A G 1: 91,115,555 K561E probably damaging Het
Map3k1 A G 13: 111,755,419 C1101R probably benign Het
Mcoln2 A G 3: 146,190,474 probably benign Het
Mfsd2b G A 12: 4,869,037 T73I probably damaging Het
Mfsd4b5 C T 10: 39,975,203 V19I probably benign Het
Mgme1 T A 2: 144,272,318 D113E probably benign Het
Mki67 A G 7: 135,695,494 S2604P probably damaging Het
Mob3c A G 4: 115,831,644 I125V probably benign Het
Mrps9 G A 1: 42,903,399 R339H probably damaging Het
Ndst1 T C 18: 60,707,803 D269G probably damaging Het
Nedd9 T C 13: 41,338,926 N30S probably damaging Het
Notch4 G A 17: 34,576,763 probably benign Het
Olfr1095 A T 2: 86,851,187 N170K probably benign Het
Olfr250 A G 9: 38,367,594 D6G probably benign Het
Olfr877 G A 9: 37,855,453 V212I probably benign Het
Olfr995 T C 2: 85,438,805 M118V probably benign Het
Papss1 C A 3: 131,619,185 R447S probably damaging Het
Pla2g4a C T 1: 149,871,523 probably benign Het
Rab11fip2 A G 19: 59,935,649 F266L probably damaging Het
Ralgapb T A 2: 158,443,280 Y554* probably null Het
Retsat T C 6: 72,602,671 V143A probably benign Het
Rnf141 G T 7: 110,821,273 Q175K probably damaging Het
Rtcb C A 10: 85,942,017 G431V probably damaging Het
Slc7a6os A G 8: 106,204,339 W222R probably damaging Het
Smarcc2 T C 10: 128,468,998 probably benign Het
Smchd1 A T 17: 71,448,833 Y218N possibly damaging Het
Sp110 G A 1: 85,594,385 H66Y probably benign Het
Speg G A 1: 75,417,863 E1739K probably benign Het
Speg A G 1: 75,421,744 Q1945R possibly damaging Het
Sprtn T C 8: 124,898,357 V67A probably damaging Het
Tktl2 G A 8: 66,512,347 V186M probably damaging Het
Tnks1bp1 G T 2: 85,071,738 E997D probably benign Het
Tti1 A T 2: 158,008,224 V365E probably benign Het
Tulp4 A G 17: 6,222,440 I590V probably benign Het
Vmn2r61 A G 7: 42,300,697 D847G probably benign Het
Zfp184 A G 13: 21,959,272 T383A possibly damaging Het
Zik1 T A 7: 10,492,341 E33V probably damaging Het
Zik1 C A 7: 10,492,342 E33* probably null Het
Other mutations in Rem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03158:Rem2 APN 14 54478958 missense probably benign 0.01
R0110:Rem2 UTSW 14 54476297 unclassified probably benign
R0450:Rem2 UTSW 14 54476297 unclassified probably benign
R0510:Rem2 UTSW 14 54476297 unclassified probably benign
R1562:Rem2 UTSW 14 54476318 missense probably benign 0.00
R1673:Rem2 UTSW 14 54476309 unclassified probably benign
R2878:Rem2 UTSW 14 54476362 missense possibly damaging 0.92
R4569:Rem2 UTSW 14 54477659 missense probably damaging 1.00
R4570:Rem2 UTSW 14 54477659 missense probably damaging 1.00
R4571:Rem2 UTSW 14 54477659 missense probably damaging 1.00
R6045:Rem2 UTSW 14 54477768 missense probably damaging 1.00
R6521:Rem2 UTSW 14 54477687 missense possibly damaging 0.72
R7042:Rem2 UTSW 14 54478091 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCAAGTAGCCTTTCTCACACAGTC -3'
(R):5'- GAATCCCAACTCAGAACTGAGCAGG -3'

Sequencing Primer
(F):5'- TCACACAGTCGGTTCCTGG -3'
(R):5'- ACTTAGAAGCTGGGTACCAGTG -3'
Posted On2014-05-14