Incidental Mutation 'R0450:Rem2'
ID39635
Institutional Source Beutler Lab
Gene Symbol Rem2
Ensembl Gene ENSMUSG00000022176
Gene Namerad and gem related GTP binding protein 2
Synonyms
MMRRC Submission 038650-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #R0450 (G1)
Quality Score225
Status Not validated
Chromosome14
Chromosomal Location54476100-54480431 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 54476297 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000022782] [ENSMUST00000164697] [ENSMUST00000164766]
Predicted Effect probably benign
Transcript: ENSMUST00000022782
SMART Domains Protein: ENSMUSP00000022782
Gene: ENSMUSG00000022175

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
CUB 29 137 5.33e-2 SMART
LDLa 140 177 5.26e-13 SMART
CUB 193 306 2.57e-4 SMART
LDLa 308 356 1.05e-3 SMART
LDLa 357 399 4.89e-2 SMART
LDLa 400 436 1.63e-9 SMART
transmembrane domain 442 464 N/A INTRINSIC
low complexity region 544 569 N/A INTRINSIC
low complexity region 614 629 N/A INTRINSIC
low complexity region 634 655 N/A INTRINSIC
low complexity region 672 681 N/A INTRINSIC
low complexity region 685 710 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000164697
AA Change: M9T
SMART Domains Protein: ENSMUSP00000132998
Gene: ENSMUSG00000022176
AA Change: M9T

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 unknown
Transcript: ENSMUST00000164766
AA Change: M9T
SMART Domains Protein: ENSMUSP00000127199
Gene: ENSMUSG00000022176
AA Change: M9T

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 0.108 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 94.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl G A 2: 127,880,503 probably null Het
AI606181 A C 19: 41,593,731 K113N unknown Het
Ankrd11 T C 8: 122,892,175 D1646G possibly damaging Het
Ap2m1 T A 16: 20,542,240 I334N possibly damaging Het
Arih2 T A 9: 108,605,092 H490L possibly damaging Het
Cdhr1 T C 14: 37,080,676 Y610C probably damaging Het
Cdkal1 C A 13: 29,691,596 probably null Het
Cep76 A T 18: 67,634,780 N227K probably benign Het
Clca4b A T 3: 144,913,351 Y676N probably damaging Het
Cog2 T C 8: 124,529,058 probably null Het
Col6a4 A T 9: 106,080,547 V26D probably damaging Het
Dcaf11 T C 14: 55,569,080 V446A probably damaging Het
Dync1h1 C A 12: 110,639,944 Q2483K probably benign Het
Enpp3 A T 10: 24,776,781 D759E probably damaging Het
Etfbkmt C T 6: 149,150,584 R96W probably benign Het
Fam83a C A 15: 58,009,926 Q384K probably benign Het
Glipr1l2 A G 10: 112,092,572 D124G probably benign Het
Gm8251 T A 1: 44,061,097 K280N possibly damaging Het
Gucy2e T C 11: 69,235,576 D326G probably benign Het
Hnrnph3 T A 10: 63,018,215 R41S probably benign Het
Hnrnph3 T A 10: 63,019,500 D2V probably damaging Het
Hsh2d G A 8: 72,200,460 D229N probably benign Het
Itpr2 T C 6: 146,417,979 T188A possibly damaging Het
Krt23 T A 11: 99,486,782 I133L probably damaging Het
Krt74 T C 15: 101,763,316 noncoding transcript Het
Krt81 C A 15: 101,463,627 R24L possibly damaging Het
Map1a A T 2: 121,305,774 H2357L probably benign Het
Mbl1 A G 14: 41,158,749 N198S probably damaging Het
Mcf2l A G 8: 12,997,337 D233G probably damaging Het
Mdga2 T C 12: 66,470,926 K45E possibly damaging Het
Mdn1 A G 4: 32,738,619 N3524S probably benign Het
Mospd3 A G 5: 137,597,032 L233P probably damaging Het
Msto1 A G 3: 88,911,541 L269P probably benign Het
Olfr1138 A G 2: 87,737,481 V281A probably damaging Het
Olfr1238 A T 2: 89,406,791 M96K probably damaging Het
Olfr467 T C 7: 107,814,688 Y35H probably damaging Het
Olfr870 T C 9: 20,171,265 Y102C probably benign Het
Olfr944 G A 9: 39,217,728 V124I possibly damaging Het
Parp2 T A 14: 50,819,673 Y361N probably damaging Het
Pcf11 G A 7: 92,657,831 P1043L probably damaging Het
Phf24 G T 4: 42,933,761 V48L possibly damaging Het
Pkn1 C A 8: 83,672,324 C678F probably damaging Het
Plcl2 T C 17: 50,607,982 L673P probably damaging Het
Ppp1r3c A T 19: 36,734,217 F51Y possibly damaging Het
Smpdl3b A G 4: 132,745,138 V108A probably damaging Het
Sncaip A G 18: 52,868,709 T101A probably benign Het
Stk11 T C 10: 80,126,086 V47A probably damaging Het
Tmpo A C 10: 91,163,096 I276M probably benign Het
Trim55 G T 3: 19,671,092 V258L possibly damaging Het
Ttn A G 2: 76,730,412 V29215A probably damaging Het
Ubr4 T G 4: 139,430,223 S2364A probably benign Het
Unc79 T A 12: 103,079,070 probably null Het
Upb1 T C 10: 75,415,083 probably null Het
Usp47 T C 7: 112,056,580 S155P possibly damaging Het
Zfp628 A T 7: 4,919,733 Q318L probably benign Het
Zfp729b A T 13: 67,591,134 V1004E probably benign 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
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
R1718:Rem2 UTSW 14 54479150 missense probably damaging 1.00
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'- CTCATCAGGAGGCGGGACAATTTC -3'
(R):5'- GATCAATATTTGGCAGGCAGCCAAC -3'

Sequencing Primer
(F):5'- GGGACAATTTCCCCAGGTG -3'
(R):5'- TCTGCCTAACAGGGCTGAG -3'
Posted On2013-05-23