Incidental Mutation 'R9343:Grap'
ID 715992
Institutional Source Beutler Lab
Gene Symbol Grap
Ensembl Gene ENSMUSG00000004837
Gene Name GRB2-related adaptor protein
Synonyms 8430435N19Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9343 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 61544091-61563610 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 61562551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Glutamine at position 174 (P174Q)
Ref Sequence ENSEMBL: ENSMUSP00000004959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004959] [ENSMUST00000051552] [ENSMUST00000148584] [ENSMUST00000151780]
AlphaFold Q9CX99
Predicted Effect possibly damaging
Transcript: ENSMUST00000004959
AA Change: P174Q

PolyPhen 2 Score 0.777 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000004959
Gene: ENSMUSG00000004837
AA Change: P174Q

DomainStartEndE-ValueType
SH3 1 57 5.43e-18 SMART
SH2 58 141 1.9e-33 SMART
SH3 161 216 3.32e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000051552
SMART Domains Protein: ENSMUSP00000054407
Gene: ENSMUSG00000042371

DomainStartEndE-ValueType
Pfam:SSF 50 479 2.4e-139 PFAM
transmembrane domain 513 535 N/A INTRINSIC
transmembrane domain 576 595 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000148584
SMART Domains Protein: ENSMUSP00000114523
Gene: ENSMUSG00000042371

DomainStartEndE-ValueType
Pfam:SSF 50 479 2.4e-139 PFAM
transmembrane domain 513 535 N/A INTRINSIC
transmembrane domain 576 595 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000151780
SMART Domains Protein: ENSMUSP00000118196
Gene: ENSMUSG00000042371

DomainStartEndE-ValueType
Pfam:SSF 48 185 3.5e-44 PFAM
Pfam:SSF 182 450 5e-79 PFAM
transmembrane domain 484 506 N/A INTRINSIC
transmembrane domain 547 566 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 100% (45/45)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A G 2: 103,547,505 (GRCm39) I960V probably benign Het
Alpk3 A G 7: 80,742,079 (GRCm39) D632G probably benign Het
Aplp2 A T 9: 31,122,935 (GRCm39) L30Q unknown Het
Axl A T 7: 25,473,544 (GRCm39) Y361N probably damaging Het
Brinp2 A T 1: 158,077,090 (GRCm39) probably benign Het
Bsn T C 9: 107,992,701 (GRCm39) D1017G probably damaging Het
Cc2d2a A T 5: 43,875,999 (GRCm39) D1046V probably damaging Het
Cdc42bpg G A 19: 6,364,553 (GRCm39) G594S probably damaging Het
Clcn6 A G 4: 148,098,458 (GRCm39) S519P probably benign Het
Cnot2 T G 10: 116,346,326 (GRCm39) H92P Het
Col2a1 T C 15: 97,877,775 (GRCm39) D1049G probably damaging Het
Creld1 C T 6: 113,466,728 (GRCm39) A237V probably benign Het
Csf2rb2 A T 15: 78,171,287 (GRCm39) probably benign Het
Csmd3 G A 15: 48,015,001 (GRCm39) T643I probably damaging Het
Fam186b G A 15: 99,177,616 (GRCm39) A570V probably damaging Het
Fcmr A T 1: 130,802,072 (GRCm39) T109S Het
Itgb5 T A 16: 33,730,826 (GRCm39) probably benign Het
Kidins220 A G 12: 25,058,078 (GRCm39) N561S probably damaging Het
Mri1 A T 8: 84,983,796 (GRCm39) S32T probably benign Het
Mrtfb T C 16: 13,218,791 (GRCm39) V479A probably benign Het
Muc4 A T 16: 32,569,971 (GRCm39) T344S possibly damaging Het
Npc1 A G 18: 12,334,769 (GRCm39) I661T possibly damaging Het
Npy1r A G 8: 67,156,751 (GRCm39) N57S probably damaging Het
Pds5b A G 5: 150,704,186 (GRCm39) D863G probably damaging Het
Phf14 T A 6: 11,961,563 (GRCm39) V400D probably damaging Het
Polr2l A G 7: 141,053,246 (GRCm39) I56T probably benign Het
Ppat A G 5: 77,063,884 (GRCm39) I422T probably benign Het
Prkcg T A 7: 3,359,124 (GRCm39) S110R possibly damaging Het
Rab7b A T 1: 131,639,540 (GRCm39) probably benign Het
Rnf152 A T 1: 105,212,251 (GRCm39) L102Q Het
Samd12 A G 15: 53,583,088 (GRCm39) V82A probably damaging Het
Serpina1e T A 12: 103,917,299 (GRCm39) R123S probably benign Het
Slit1 T A 19: 41,615,737 (GRCm39) N794I probably damaging Het
Surf6 T C 2: 26,783,006 (GRCm39) K154R probably damaging Het
Tln2 C T 9: 67,230,353 (GRCm39) A71T probably benign Het
Trim3 A G 7: 105,260,673 (GRCm39) Y649H probably benign Het
Ttll7 T A 3: 146,667,497 (GRCm39) W808R probably damaging Het
Tvp23a T C 16: 10,245,287 (GRCm39) D104G probably damaging Het
Upp2 A G 2: 58,645,339 (GRCm39) probably benign Het
Vipr1 G A 9: 121,471,993 (GRCm39) probably null Het
Vmn1r119 A G 7: 20,746,358 (GRCm39) V8A probably benign Het
Vmn1r209 T A 13: 22,990,546 (GRCm39) H48L probably damaging Het
Wdr11 T C 7: 129,232,523 (GRCm39) probably null Het
Zcchc17 T C 4: 130,210,546 (GRCm39) D207G probably damaging Het
Zfp78 T C 7: 6,381,942 (GRCm39) S331P probably damaging 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
R3903: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
Predicted Primers PCR Primer
(F):5'- TGAGGTTCCACACACTACCG -3'
(R):5'- TAGTGTGAAGAAGCTGAGCC -3'

Sequencing Primer
(F):5'- AGCAGCAGAGGGTCCTTG -3'
(R):5'- GAAGCTGAGCCCAGAGC -3'
Posted On 2022-06-15