Incidental Mutation 'ANU74:Grb2'
ID 262715
Institutional Source Beutler Lab
Gene Symbol Grb2
Ensembl Gene ENSMUSG00000059923
Gene Name growth factor receptor bound protein 2
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # ANU74
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 115534871-115599423 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115536733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 131 (D131E)
Ref Sequence ENSEMBL: ENSMUSP00000102108 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021090] [ENSMUST00000106495] [ENSMUST00000106497] [ENSMUST00000106499] [ENSMUST00000135065]
AlphaFold Q60631
Predicted Effect probably benign
Transcript: ENSMUST00000021090
AA Change: D172E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000021090
Gene: ENSMUSG00000059923
AA Change: D172E

DomainStartEndE-ValueType
SH3 1 57 2.31e-21 SMART
SH2 58 141 2.97e-35 SMART
SH3 159 214 5.55e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106495
AA Change: D158E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102104
Gene: ENSMUSG00000059923
AA Change: D158E

DomainStartEndE-ValueType
SH3 1 57 2.31e-21 SMART
SH2 58 141 2.97e-35 SMART
SH3 143 200 2.08e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106497
AA Change: D172E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102106
Gene: ENSMUSG00000059923
AA Change: D172E

DomainStartEndE-ValueType
SH3 1 57 2.31e-21 SMART
SH2 58 141 2.97e-35 SMART
SH3 159 214 5.55e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106499
AA Change: D131E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000102108
Gene: ENSMUSG00000059923
AA Change: D131E

DomainStartEndE-ValueType
SH3 1 57 2.31e-21 SMART
SH2 16 100 1.36e0 SMART
SH3 118 173 5.55e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135065
SMART Domains Protein: ENSMUSP00000117539
Gene: ENSMUSG00000059923

DomainStartEndE-ValueType
SH3 1 57 1.4e-23 SMART
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene binds the epidermal growth factor receptor and contains one SH2 domain and two SH3 domains. Its two SH3 domains direct complex formation with proline-rich regions of other proteins, and its SH2 domain binds tyrosine phosphorylated sequences. This gene is similar to the Sem5 gene of C.elegans, which is involved in the signal transduction pathway. Three alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Embryos homozygous for a targeted null mutation lack expanded inner cell masses, show only a few endodermal cells, and die by embryonic day 7.5. Heterozygotes have defective T cell signaling and lack the cardiac hypertrophy response to pressure overload. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 G A 5: 50,118,380 (GRCm39) S1056L probably benign Het
Ankrd26 A T 6: 118,529,736 (GRCm39) D236E probably benign Het
Capn15 C T 17: 26,184,460 (GRCm39) W7* probably null Het
Celsr2 G A 3: 108,319,815 (GRCm39) T999M probably damaging Het
Chrd T A 16: 20,560,069 (GRCm39) M912K possibly damaging Het
Col9a1 A G 1: 24,224,409 (GRCm39) D197G unknown Het
Csf1r A G 18: 61,250,463 (GRCm39) E431G probably benign Het
Eloc A G 1: 16,713,574 (GRCm39) F115L possibly damaging Het
Fap T C 2: 62,378,113 (GRCm39) D193G probably damaging Het
Fscn2 T C 11: 120,253,162 (GRCm39) Y210H probably damaging Het
Fut9 G C 4: 25,620,802 (GRCm39) T4R probably benign Het
Hecw2 T C 1: 53,964,853 (GRCm39) T658A probably benign Het
Helz2 T C 2: 180,876,627 (GRCm39) E1289G probably benign Het
Hyou1 A G 9: 44,292,560 (GRCm39) N92D possibly damaging Het
Irf8 A C 8: 121,466,608 (GRCm39) I18L possibly damaging Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
Kif12 GC "GCCTCCACCCGGCGGTC,GCC" 4: 63,089,663 (GRCm39) probably null Het
Lamc2 A C 1: 153,007,581 (GRCm39) D864E probably benign Het
Map3k4 A G 17: 12,451,863 (GRCm39) V1475A probably damaging Het
Mapk8ip3 A C 17: 25,119,551 (GRCm39) M1030R possibly damaging Het
Mat1a A G 14: 40,833,099 (GRCm39) D94G probably benign Het
Myh15 T A 16: 48,993,295 (GRCm39) D1643E possibly damaging Het
Myo15b T C 11: 115,769,239 (GRCm39) F55L probably damaging Het
Nhlh2 A T 3: 101,919,970 (GRCm39) M1L probably benign Het
Nup214 T C 2: 31,924,978 (GRCm39) S1836P probably damaging Het
Olr1 G A 6: 129,477,032 (GRCm39) R78C possibly damaging Het
Or5m9 T A 2: 85,877,655 (GRCm39) Y276* probably null Het
Pam16 C A 16: 4,434,497 (GRCm39) V98F probably damaging Het
Pelp1 C T 11: 70,285,913 (GRCm39) V652I probably damaging Het
Pole A G 5: 110,437,236 (GRCm39) H67R probably benign Het
Rbms1 G T 2: 60,628,060 (GRCm39) A60E probably damaging Het
Recql4 A T 15: 76,589,957 (GRCm39) M789K possibly damaging Het
Rrn3 T C 16: 13,629,397 (GRCm39) F571S possibly damaging Het
Ryr3 T C 2: 112,661,575 (GRCm39) probably null Het
Sec61b C A 4: 47,474,922 (GRCm39) N26K possibly damaging Het
Serinc1 T C 10: 57,395,938 (GRCm39) E284G probably benign Het
Slc30a9 G A 5: 67,507,195 (GRCm39) D496N probably damaging Het
Slc44a4 G A 17: 35,140,554 (GRCm39) R249H probably damaging Het
Slc6a13 A C 6: 121,311,835 (GRCm39) D404A probably benign Het
Spata18 A G 5: 73,828,456 (GRCm39) E225G probably damaging Het
Sspo G A 6: 48,437,893 (GRCm39) G1351S probably damaging Het
Tgm3 T C 2: 129,890,310 (GRCm39) V691A probably damaging Het
Tns3 C T 11: 8,442,149 (GRCm39) R738Q probably benign Het
Tyk2 A T 9: 21,027,454 (GRCm39) I506N probably damaging Het
Ube2v1 G A 2: 167,452,264 (GRCm39) T113I probably damaging Het
Vmn1r177 A G 7: 23,565,645 (GRCm39) V77A possibly damaging Het
Vmn2r14 A T 5: 109,366,910 (GRCm39) S437T probably benign Het
Vmn2r78 G C 7: 86,570,273 (GRCm39) V264L possibly damaging Het
Zfp956 T G 6: 47,940,507 (GRCm39) Y289D probably benign Het
Other mutations in Grb2
AlleleSourceChrCoordTypePredicted EffectPPH Score
Hill_country UTSW 11 115,536,698 (GRCm39) missense probably benign 0.06
R0003:Grb2 UTSW 11 115,546,251 (GRCm39) missense probably damaging 0.97
R2077:Grb2 UTSW 11 115,536,651 (GRCm39) missense probably damaging 1.00
R4260:Grb2 UTSW 11 115,540,642 (GRCm39) missense probably damaging 0.96
R5796:Grb2 UTSW 11 115,536,698 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- TTGCAACCCAATGAGAGGGTCAC -3'
(R):5'- CAGCCCAAAGTGTTTGCTGCTC -3'

Sequencing Primer
(F):5'- CAATGAGAGGGTCACCCGTG -3'
(R):5'- GACTTAGGAGTGTGTCAGAGC -3'
Posted On 2015-02-04