Incidental Mutation 'R8080:Garem2'
ID629272
Institutional Source Beutler Lab
Gene Symbol Garem2
Ensembl Gene ENSMUSG00000044576
Gene NameGRB2 associated regulator of MAPK1 subtype 2
SynonymsFam59b, Gareml, LOC242915
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.190) question?
Stock #R8080 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location30105161-30118378 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 30108387 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 83 (Y83C)
Ref Sequence ENSEMBL: ENSMUSP00000054208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000058045] [ENSMUST00000127749] [ENSMUST00000199573]
Predicted Effect probably damaging
Transcript: ENSMUST00000058045
AA Change: Y83C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000054208
Gene: ENSMUSG00000044576
AA Change: Y83C

DomainStartEndE-ValueType
Pfam:CABIT 29 337 1.2e-77 PFAM
low complexity region 379 405 N/A INTRINSIC
low complexity region 464 486 N/A INTRINSIC
low complexity region 524 534 N/A INTRINSIC
low complexity region 538 553 N/A INTRINSIC
low complexity region 569 588 N/A INTRINSIC
low complexity region 640 663 N/A INTRINSIC
low complexity region 674 684 N/A INTRINSIC
low complexity region 686 696 N/A INTRINSIC
PDB:2DKZ|A 794 878 3e-30 PDB
Blast:SAM 812 879 6e-35 BLAST
SCOP:d1kw4a_ 816 877 1e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127749
SMART Domains Protein: ENSMUSP00000131958
Gene: ENSMUSG00000086815

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 80 96 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000199573
SMART Domains Protein: ENSMUSP00000142756
Gene: ENSMUSG00000086815

DomainStartEndE-ValueType
low complexity region 13 26 N/A INTRINSIC
low complexity region 41 54 N/A INTRINSIC
low complexity region 80 96 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.7%
  • 20x: 94.9%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aloxe3 A G 11: 69,133,074 Q277R probably damaging Het
Anapc5 T C 5: 122,807,338 N226D probably damaging Het
Bcl2l11 T C 2: 128,128,666 C12R probably damaging Het
Bpnt1 A G 1: 185,352,209 T168A probably damaging Het
Brca2 A T 5: 150,539,892 E1040D probably benign Het
Cdca2 G A 14: 67,677,555 Q752* probably null Het
Cntn2 T C 1: 132,521,798 D635G probably damaging Het
Cntnap5b A T 1: 100,072,203 I229F probably benign Het
Ctr9 G A 7: 111,051,567 E900K possibly damaging Het
Dmbt1 A G 7: 131,088,770 Y911C unknown Het
Egflam T A 15: 7,398,080 D2V probably benign Het
Enpep A T 3: 129,299,134 N505K probably damaging Het
Fam13a A G 6: 58,956,805 S267P probably damaging Het
Fam172a T A 13: 78,006,446 L316Q probably damaging Het
Fancc G T 13: 63,403,023 T12K Het
Fbxo3 A G 2: 104,033,667 Y89C probably damaging Het
Gm17079 T C 14: 51,693,023 T122A Het
Gm3696 A T 14: 7,089,870 L71* probably null Het
Gm4559 C T 7: 142,273,816 R183K unknown Het
Gmip A T 8: 69,816,086 T454S possibly damaging Het
Helz2 T A 2: 181,238,262 T554S probably damaging Het
Hoxc9 C T 15: 102,982,119 T156M probably benign Het
Hrc A G 7: 45,336,838 E471G probably damaging Het
Hydin A G 8: 110,535,231 I2655V probably benign Het
Ighv1-64 T C 12: 115,507,843 H18R probably benign Het
Jcad A G 18: 4,649,270 Y47C probably benign Het
Jmjd4 A G 11: 59,450,353 T37A probably benign Het
Kalrn C T 16: 33,975,668 G2915S possibly damaging Het
Kdm5d T C Y: 910,742 F285L probably benign Het
Lmna A G 3: 88,486,561 F237L probably damaging Het
Med12l A G 3: 59,265,186 K1788E probably damaging Het
Mrgprb1 T C 7: 48,446,910 probably null Het
Myh1 T A 11: 67,211,402 Y840N probably benign Het
Negr1 C A 3: 157,160,720 A302E probably damaging Het
Nup188 T C 2: 30,337,033 V1206A possibly damaging Het
Nup205 T C 6: 35,227,376 L1399P probably damaging Het
Olfr111 G A 17: 37,530,664 R229H probably benign Het
Olfr1254 T A 2: 89,788,627 I242F possibly damaging Het
Olfr53 T C 7: 140,652,474 M165T probably benign Het
Olfr810 T C 10: 129,791,128 I154V probably benign Het
Olfr892-ps1 T C 9: 38,190,589 L288S unknown Het
Pcdhb4 A G 18: 37,309,296 D553G probably benign Het
Phip A G 9: 82,887,609 L1147P probably damaging Het
Phlpp1 A G 1: 106,392,976 D1567G probably benign Het
Pigz T C 16: 31,942,040 C20R probably damaging Het
Plpp1 A G 13: 112,867,468 K252R probably benign Het
Polr2a A T 11: 69,735,048 S1759T unknown Het
Rbm42 G T 7: 30,645,711 P212T unknown Het
Repin1 G T 6: 48,597,345 E403* probably null Het
Slc35e1 G A 8: 72,492,186 P134L probably damaging Het
Slc9a3 A C 13: 74,166,027 Q818P probably benign Het
St3gal4 T C 9: 35,106,321 probably null Het
Stard3nl G T 13: 19,370,351 A151E probably damaging Het
Syt9 T A 7: 107,436,790 I338N probably benign Het
Ticrr A T 7: 79,684,264 probably null Het
Tlr4 T A 4: 66,839,476 Y169N probably damaging Het
Tnc A C 4: 63,976,469 I1560S possibly damaging Het
Usp7 C A 16: 8,697,907 D644Y probably benign Het
Utp20 A G 10: 88,782,715 I1141T possibly damaging Het
Vmn2r111 T C 17: 22,559,051 N549S possibly damaging Het
Vmn2r60 A G 7: 42,141,097 M503V probably benign Het
Zfp384 T C 6: 125,036,558 S530P unknown Het
Zfp600 T A 4: 146,196,612 C617S unknown Het
Zfp819 A G 7: 43,617,724 R544G probably damaging Het
Other mutations in Garem2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0194:Garem2 UTSW 5 30113930 missense probably damaging 1.00
R0458:Garem2 UTSW 5 30114182 missense probably damaging 0.99
R1933:Garem2 UTSW 5 30114862 nonsense probably null
R1955:Garem2 UTSW 5 30108270 missense probably benign 0.36
R1970:Garem2 UTSW 5 30117174 nonsense probably null
R2152:Garem2 UTSW 5 30108299 missense probably damaging 0.99
R2153:Garem2 UTSW 5 30108299 missense probably damaging 0.99
R2154:Garem2 UTSW 5 30108299 missense probably damaging 0.99
R2202:Garem2 UTSW 5 30114764 missense probably benign 0.43
R2270:Garem2 UTSW 5 30116974 missense probably damaging 1.00
R2271:Garem2 UTSW 5 30116974 missense probably damaging 1.00
R4348:Garem2 UTSW 5 30105368 missense possibly damaging 0.63
R4439:Garem2 UTSW 5 30113346 missense possibly damaging 0.94
R4665:Garem2 UTSW 5 30114667 missense probably damaging 0.98
R4666:Garem2 UTSW 5 30114667 missense probably damaging 0.98
R5733:Garem2 UTSW 5 30116338 missense probably damaging 1.00
R5851:Garem2 UTSW 5 30114290 missense probably damaging 1.00
R6416:Garem2 UTSW 5 30116737 nonsense probably null
R6998:Garem2 UTSW 5 30114170 missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GGACACTCAGGAATGTCACC -3'
(R):5'- ACACTCATAAGCCCTGACTCTAAGG -3'

Sequencing Primer
(F):5'- ACTCAGGAATGTCACCCAATC -3'
(R):5'- GGTGACCTCCAGCCTTCAC -3'
Posted On2020-06-30