Incidental Mutation 'R1591:Grap2'
ID175524
Institutional Source Beutler Lab
Gene Symbol Grap2
Ensembl Gene ENSMUSG00000042351
Gene NameGRB2-related adaptor protein 2
SynonymsMona, Grb2-related adaptor downstream of Sch, GRAP-2, GrbX, GRB2L, Grf40, GRID, P38, Gads, GrpL
MMRRC Submission 039628-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.252) question?
Stock #R1591 (G1)
Quality Score225
Status Validated
Chromosome15
Chromosomal Location80572594-80652854 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 80648448 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 272 (Y272F)
Ref Sequence ENSEMBL: ENSMUSP00000155681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043149] [ENSMUST00000229980] [ENSMUST00000230856]
Predicted Effect probably damaging
Transcript: ENSMUST00000043149
AA Change: Y272F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046532
Gene: ENSMUSG00000042351
AA Change: Y272F

DomainStartEndE-ValueType
SH3 1 55 3.48e-16 SMART
SH2 56 138 7.49e-32 SMART
low complexity region 193 216 N/A INTRINSIC
SH3 266 321 4.31e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183708
Predicted Effect probably damaging
Transcript: ENSMUST00000229980
AA Change: Y272F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000230856
Meta Mutation Damage Score 0.3293 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.7%
Validation Efficiency 100% (80/80)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GRB2/Sem5/Drk family. This member is an adaptor-like protein involved in leukocyte-specific protein-tyrosine kinase signaling. Like its related family member, GRB2-related adaptor protein (GRAP), this protein contains an SH2 domain flanked by two SH3 domains. This protein interacts with other proteins, such as GRB2-associated binding protein 1 (GAB1) and the SLP-76 leukocyte protein (LCP2), through its SH3 domains. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for disruptions in this gene are grossly healthy but display abnormal T cell development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 G T 5: 100,809,639 Q201K probably benign Het
Acacb A T 5: 114,203,423 I829F possibly damaging Het
Acvr1b G T 15: 101,194,024 V62L probably benign Het
Adam6b A T 12: 113,489,832 I90F probably benign Het
Adgrf1 T C 17: 43,310,981 L703P probably damaging Het
Arf3 T C 15: 98,742,788 probably benign Het
Asns T C 6: 7,678,007 D357G probably damaging Het
Atr T C 9: 95,945,385 M2461T probably damaging Het
B3galt4 G A 17: 33,950,839 R142C probably damaging Het
Bod1l T C 5: 41,819,220 I1584V probably benign Het
Bub3 T C 7: 131,561,608 probably null Het
Camkk2 A G 5: 122,757,558 probably null Het
Cand1 G T 10: 119,211,869 T572K possibly damaging Het
Caprin2 A T 6: 148,873,108 S235R possibly damaging Het
Cdh24 T C 14: 54,636,342 T452A probably benign Het
Cdh4 T C 2: 179,886,864 probably null Het
Cfap61 A G 2: 146,145,458 R1060G probably benign Het
Chd9 A G 8: 90,983,538 D314G probably damaging Het
Csmd1 T A 8: 15,900,710 I3500F probably damaging Het
Dnah1 G T 14: 31,272,332 Q2858K probably benign Het
Dnah6 C T 6: 73,076,600 E2884K probably benign Het
Ecm1 G A 3: 95,735,963 R342C probably damaging Het
Exosc10 T A 4: 148,568,383 I485N probably benign Het
Fap T C 2: 62,553,857 K2E probably damaging Het
Fgfr1 G A 8: 25,572,720 G671D probably damaging Het
Fzr1 C T 10: 81,370,367 R162Q possibly damaging Het
Gm17727 T C 9: 35,776,656 D96G probably damaging Het
Il11ra1 T A 4: 41,766,200 W246R probably damaging Het
Kcna3 A T 3: 107,037,029 I203F probably damaging Het
Kcng1 T C 2: 168,268,710 E178G possibly damaging Het
Kif19a A C 11: 114,789,231 H798P probably benign Het
Kif21b T C 1: 136,149,317 L359P probably damaging Het
Krt6a A T 15: 101,692,357 probably null Het
Lman1l C T 9: 57,615,802 V125I probably benign Het
Lrp1 C T 10: 127,605,606 S216N probably benign Het
Lrp3 A G 7: 35,202,365 V676A probably benign Het
Lrrc63 T A 14: 75,125,892 K266N possibly damaging Het
Mccc1 C T 3: 35,989,857 V246M probably damaging Het
Mdn1 T C 4: 32,700,092 V1395A possibly damaging Het
Mmrn1 A T 6: 60,944,771 R71* probably null Het
Mrps2 C T 2: 28,469,488 A119V probably benign Het
Ogdh T C 11: 6,349,384 F750S probably damaging Het
Olfr147 A G 9: 38,402,936 T18A probably damaging Het
Olfr356 C A 2: 36,937,978 N286K probably damaging Het
Olfr484 T A 7: 108,124,364 I300F possibly damaging Het
Olfr612 T G 7: 103,539,067 T56P probably benign Het
Olfr901 A T 9: 38,430,411 N43I probably damaging Het
Osbpl11 A C 16: 33,209,983 I194L probably benign Het
Pacsin2 T C 15: 83,385,051 E14G probably damaging Het
Pcdh7 A G 5: 57,720,422 T440A probably damaging Het
Pcdhb17 T C 18: 37,485,825 S223P probably damaging Het
Pik3c2g G A 6: 139,748,178 R109K probably benign Het
Ppp2ca T C 11: 52,099,089 I14T possibly damaging Het
Rdh12 A T 12: 79,211,504 T102S probably damaging Het
Rsf1 T A 7: 97,639,313 C132* probably null Het
Rufy1 G A 11: 50,394,928 L621F probably damaging Het
Ruvbl2 C T 7: 45,424,711 R253H possibly damaging Het
Sdf2 A G 11: 78,254,993 E172G probably damaging Het
Skint5 C T 4: 113,999,454 probably null Het
Slc25a27 A G 17: 43,653,424 I185T probably benign Het
Slc41a3 A C 6: 90,633,695 K180Q probably benign Het
Slc7a14 A C 3: 31,237,449 F227V probably damaging Het
Smg1 T C 7: 118,156,919 probably benign Het
St6galnac1 A T 11: 116,765,863 D483E probably damaging Het
Tes A G 6: 17,097,442 K183R probably damaging Het
Tgfbr1 G T 4: 47,403,471 D290Y probably damaging Het
Tifab T A 13: 56,176,351 Y93F probably benign Het
Tmem131l A G 3: 83,940,889 probably null Het
Tnfrsf21 T A 17: 43,085,374 S516R probably benign Het
Ttn T C 2: 76,776,045 Y18140C probably damaging Het
Unc13b T A 4: 43,244,747 S3692T probably damaging Het
Vwa8 C T 14: 78,908,230 R116C probably damaging Het
Zfp113 T C 5: 138,151,197 probably benign Het
Zfp26 T C 9: 20,437,625 T548A probably benign Het
Zfp870 C T 17: 32,884,016 G114D probably damaging Het
Other mutations in Grap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01727:Grap2 APN 15 80634409 missense probably damaging 1.00
IGL02121:Grap2 APN 15 80647875 missense possibly damaging 0.77
IGL02347:Grap2 APN 15 80646356 splice site probably benign
IGL02561:Grap2 APN 15 80647848 splice site probably benign
Aquavit UTSW 15 80643673 missense probably damaging 0.97
Grappa UTSW 15 80648522 missense probably damaging 0.98
R1465:Grap2 UTSW 15 80648411 splice site probably null
R1465:Grap2 UTSW 15 80648411 splice site probably null
R2050:Grap2 UTSW 15 80646243 missense probably benign 0.09
R2862:Grap2 UTSW 15 80647964 missense probably damaging 0.98
R3801:Grap2 UTSW 15 80623746 missense possibly damaging 0.62
R3804:Grap2 UTSW 15 80623746 missense possibly damaging 0.62
R4838:Grap2 UTSW 15 80638561 missense possibly damaging 0.92
R5090:Grap2 UTSW 15 80638482 missense possibly damaging 0.95
R5119:Grap2 UTSW 15 80646144 missense possibly damaging 0.93
R5121:Grap2 UTSW 15 80646144 missense possibly damaging 0.93
R6652:Grap2 UTSW 15 80648522 missense probably damaging 0.98
R6873:Grap2 UTSW 15 80643673 missense probably damaging 0.97
R7082:Grap2 UTSW 15 80648498 missense probably benign 0.27
R7512:Grap2 UTSW 15 80648553 missense probably benign 0.08
R7571:Grap2 UTSW 15 80643704 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTTAGATTGCTGCAAAGTCAGCC -3'
(R):5'- CCTTCTCATGCTGATCAACGAGCC -3'

Sequencing Primer
(F):5'- CTGCAAAGTCAGCCTTTGG -3'
(R):5'- TGTGTAGCCATCGGCATAC -3'
Posted On2014-04-24