Incidental Mutation 'R1562:Rem2'
ID170704
Institutional Source Beutler Lab
Gene Symbol Rem2
Ensembl Gene ENSMUSG00000022176
Gene Namerad and gem related GTP binding protein 2
Synonyms
MMRRC Submission 039601-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #R1562 (G1)
Quality Score198
Status Not validated
Chromosome14
Chromosomal Location54476100-54480431 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54476318 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 16 (V16A)
Ref Sequence ENSEMBL: ENSMUSP00000132998 (fasta)
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 probably benign
Transcript: ENSMUST00000164697
AA Change: V16A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132998
Gene: ENSMUSG00000022176
AA Change: V16A

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 benign
Transcript: ENSMUST00000164766
AA Change: V16A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000127199
Gene: ENSMUSG00000022176
AA Change: V16A

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 91.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016K19Rik A T 11: 76,003,198 I134F probably damaging Het
Abca2 A G 2: 25,446,319 I2201V probably benign Het
Adam22 T C 5: 8,095,007 N817S probably damaging Het
Alox12 C A 11: 70,250,165 R348L probably damaging Het
Asb17 A T 3: 153,853,506 T285S probably benign Het
Casp4 T C 9: 5,324,733 S182P possibly damaging Het
Cenpe T C 3: 135,238,394 M985T possibly damaging Het
Clcn1 C T 6: 42,300,235 P420L probably benign Het
Coro2a T C 4: 46,548,917 I126V probably benign Het
Cubn T C 2: 13,427,967 Y1181C probably damaging Het
Cyp2d22 A T 15: 82,373,978 L147Q probably damaging Het
D430042O09Rik C A 7: 125,842,848 S643Y probably damaging Het
Dna2 C T 10: 62,949,187 R28W probably benign Het
Ecm1 G A 3: 95,735,963 R342C probably damaging Het
Fat2 T C 11: 55,309,974 N758S probably damaging Het
Fbxo43 T C 15: 36,163,016 D15G probably damaging Het
Flt3 T C 5: 147,344,513 E803G probably damaging Het
Folr1 T G 7: 101,858,594 D213A probably damaging Het
Fus T C 7: 127,979,922 V359A probably damaging Het
Gabrb3 C T 7: 57,765,514 R111* probably null Het
Gm17324 T C 9: 78,448,682 probably benign Het
Hormad2 A T 11: 4,408,848 probably null Het
Ifi27l2b T A 12: 103,456,521 probably null Het
Isg20 G T 7: 78,920,143 C176F probably benign Het
Krt15 C A 11: 100,133,181 V346L probably benign Het
Med13l A G 5: 118,738,519 K920R probably damaging Het
Mlh3 A T 12: 85,266,920 F831I probably benign Het
Mtmr9 A G 14: 63,534,337 S267P probably benign Het
Mybpc1 C T 10: 88,553,331 A406T probably damaging Het
Myh1 T C 11: 67,211,370 M829T probably benign Het
Myo10 A G 15: 25,780,411 Q209R possibly damaging Het
Nceh1 T A 3: 27,239,552 V153D probably damaging Het
Olfr1195 T A 2: 88,683,079 I218F probably benign Het
Olfr348 A G 2: 36,786,684 D53G probably damaging Het
Olfr694 C T 7: 106,688,980 M250I probably benign Het
Olfr898 C A 9: 38,349,362 S87* probably null Het
Oog3 A T 4: 144,162,599 I3N probably damaging Het
Pcnt G A 10: 76,367,330 T2646M probably benign Het
Phf10 A T 17: 14,946,250 C453S probably damaging Het
Plcb4 T A 2: 135,970,447 probably null Het
Plekhh1 A G 12: 79,076,708 H1185R probably benign Het
Prmt3 G T 7: 49,826,854 V404L probably benign Het
Ptprb T A 10: 116,339,467 D1122E probably benign Het
Rars A G 11: 35,821,094 probably null Het
Rasa2 G T 9: 96,545,750 N687K possibly damaging Het
Rbm11 A G 16: 75,596,535 T40A probably damaging Het
Rlf A T 4: 121,150,391 M574K possibly damaging Het
Rpap3 A T 15: 97,694,217 V186D possibly damaging Het
Sertad3 G A 7: 27,476,623 E161K probably damaging Het
Sh3gl2 T C 4: 85,385,893 S278P probably benign Het
Strn3 T C 12: 51,633,618 T400A probably benign Het
Sycp2 A T 2: 178,382,385 I402N probably damaging Het
Synj1 C T 16: 90,987,402 V283I probably benign Het
Tas2r108 A G 6: 40,494,066 probably null Het
Ttpal A G 2: 163,615,403 N265S probably benign Het
Unc80 G A 1: 66,637,957 G2015D probably damaging Het
Upf1 C T 8: 70,343,367 W138* probably null Het
Vmn1r25 T G 6: 57,978,801 M168L probably benign Het
Vmn2r18 A T 5: 151,586,836 F24Y probably benign Het
Vmn2r4 G T 3: 64,389,444 T640N probably damaging Het
Wdr75 T A 1: 45,803,870 probably null Het
Zdbf2 T G 1: 63,303,588 S375R possibly damaging Het
Zfp648 A G 1: 154,204,392 Q99R probably benign Het
Zfp964 C T 8: 69,663,004 P85S 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
R0450:Rem2 UTSW 14 54476297 unclassified probably benign
R0510:Rem2 UTSW 14 54476297 unclassified probably benign
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
R7861:Rem2 UTSW 14 54477799 missense probably damaging 1.00
Z1177:Rem2 UTSW 14 54479581 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 On2014-04-13