Incidental Mutation 'R3903:Grap'
ID 309272
Institutional Source Beutler Lab
Gene Symbol Grap
Ensembl Gene ENSMUSG00000004837
Gene Name GRB2-related adaptor protein
Synonyms 8430435N19Rik
MMRRC Submission 040907-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3903 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 61544091-61563610 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to G at 61551151 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000004959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004959]
AlphaFold Q9CX99
Predicted Effect probably null
Transcript: ENSMUST00000004959
SMART Domains Protein: ENSMUSP00000004959
Gene: ENSMUSG00000004837

DomainStartEndE-ValueType
SH3 1 57 5.43e-18 SMART
SH2 58 141 1.9e-33 SMART
SH3 161 216 3.32e-22 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (32/32)
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 and functions as a cytoplasmic signaling protein which contains an SH2 domain flanked by two SH3 domains. The SH2 domain interacts with ligand-activated receptors for stem cell factor and erythropoietin, and facilitates the formation of a stable complex with the BCR-ABL oncoprotein. This protein also associates with the Ras guanine nucleotide exchange factor SOS1 (son of sevenless homolog 1) through its N-terminal SH3 domain. In general, it couples signals from receptor and cytoplasmic tyrosine kinases to the Ras signaling pathway. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for disruptions in this gene display a greater proliferative T cell response to TCR stimulation. In all other respects, they are normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amd1 C T 10: 40,166,453 (GRCm39) R210H probably benign Het
Amt C T 9: 108,174,420 (GRCm39) R62C possibly damaging Het
Ap3m1 T C 14: 21,086,732 (GRCm39) Y185C probably null Het
Calcrl T A 2: 84,198,986 (GRCm39) probably benign Het
Ccdc178 C T 18: 22,156,152 (GRCm39) V573I possibly damaging Het
Cdh6 T C 15: 13,042,661 (GRCm39) K499R probably benign Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col6a1 C T 10: 76,547,175 (GRCm39) R730H unknown Het
Cyp4f40 C A 17: 32,878,598 (GRCm39) R47S possibly damaging Het
Eif4a2 AG A 16: 22,929,390 (GRCm39) probably null Het
Fsip2l T C X: 47,930,421 (GRCm39) N649S possibly damaging Het
Gm8180 T A 14: 44,021,092 (GRCm39) R39W probably null Het
Golm1 T C 13: 59,786,154 (GRCm39) Q346R probably damaging Het
Hormad2 A G 11: 4,377,237 (GRCm39) probably benign Het
Hyal1 T C 9: 107,456,171 (GRCm39) probably null Het
Kif12 A G 4: 63,086,213 (GRCm39) V378A possibly damaging Het
Lrrk2 G A 15: 91,631,904 (GRCm39) S1276N probably damaging Het
Lrrk2 A T 15: 91,631,903 (GRCm39) S1276C probably damaging Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Or4f53 A T 2: 111,088,114 (GRCm39) Y218F probably damaging Het
Or7c70 T G 10: 78,683,132 (GRCm39) I206L probably benign Het
Or8c20 C T 9: 38,260,954 (GRCm39) Q186* probably null Het
Pabpc6 T C 17: 9,888,083 (GRCm39) E156G probably benign Het
Rorb A G 19: 18,939,463 (GRCm39) Y155H probably damaging Het
Samd9l T A 6: 3,376,830 (GRCm39) K144* probably null Het
Scn1a A G 2: 66,148,476 (GRCm39) I3T probably benign Het
Serpinb9 T C 13: 33,194,793 (GRCm39) M183T possibly damaging Het
Wnk1 A G 6: 119,926,012 (GRCm39) S1151P probably damaging Het
Xirp2 C T 2: 67,338,380 (GRCm39) T207I probably benign Het
Zfp39 T C 11: 58,781,001 (GRCm39) Y587C probably benign Het
Other mutations in Grap
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0833:Grap UTSW 11 61,551,065 (GRCm39) missense possibly damaging 0.73
R0836:Grap UTSW 11 61,551,065 (GRCm39) missense possibly damaging 0.73
R1103:Grap UTSW 11 61,562,544 (GRCm39) missense probably benign 0.01
R1479:Grap UTSW 11 61,551,124 (GRCm39) missense probably benign 0.26
R1869:Grap UTSW 11 61,555,015 (GRCm39) missense possibly damaging 0.94
R3843:Grap UTSW 11 61,551,151 (GRCm39) splice site probably null
R4939:Grap UTSW 11 61,551,124 (GRCm39) missense probably damaging 1.00
R6670:Grap UTSW 11 61,551,064 (GRCm39) missense probably damaging 1.00
R8733:Grap UTSW 11 61,562,517 (GRCm39) missense possibly damaging 0.79
R9343:Grap UTSW 11 61,562,551 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- TGGCCTGTGAGATGCCATAG -3'
(R):5'- ACGTCCCAGACCTAAGATATCTGG -3'

Sequencing Primer
(F):5'- TGAGATGCCATAGGTCCCCATC -3'
(R):5'- GATATCTGGGCCAAACTAGACTTC -3'
Posted On 2015-04-17