Incidental Mutation 'R0942:Grb7'
ID 82761
Institutional Source Beutler Lab
Gene Symbol Grb7
Ensembl Gene ENSMUSG00000019312
Gene Name growth factor receptor bound protein 7
Synonyms
MMRRC Submission 039081-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0942 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98337660-98346199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98344634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 346 (Y346H)
Ref Sequence ENSEMBL: ENSMUSP00000019456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019456] [ENSMUST00000132771]
AlphaFold Q03160
Predicted Effect probably damaging
Transcript: ENSMUST00000019456
AA Change: Y346H

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000019456
Gene: ENSMUSG00000019312
AA Change: Y346H

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
RA 99 185 1.22e-17 SMART
PH 229 343 1.19e-11 SMART
Pfam:BPS 368 415 3.6e-31 PFAM
SH2 432 521 4.34e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127914
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129034
Predicted Effect probably benign
Transcript: ENSMUST00000132771
SMART Domains Protein: ENSMUSP00000119926
Gene: ENSMUSG00000019312

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
Pfam:RA 99 138 6.9e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133419
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156328
Meta Mutation Damage Score 0.2259 question?
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.7%
  • 20x: 95.9%
Validation Efficiency 95% (40/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to a small family of adapter proteins that are known to interact with a number of receptor tyrosine kinases and signaling molecules. This gene encodes a growth factor receptor-binding protein that interacts with epidermal growth factor receptor (EGFR) and ephrin receptors. The protein plays a role in the integrin signaling pathway and cell migration by binding with focal adhesion kinase (FAK). Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810064F22Rik C T 9: 22,119,367 (GRCm39) noncoding transcript Het
Aass C T 6: 23,075,151 (GRCm39) probably benign Het
Abcb5 C A 12: 118,869,933 (GRCm39) V742F possibly damaging Het
Abcd4 A G 12: 84,659,602 (GRCm39) I165T probably damaging Het
Acer3 T C 7: 97,906,949 (GRCm39) Y119C probably damaging Het
Ap3d1 A T 10: 80,568,789 (GRCm39) probably benign Het
Ascc2 T A 11: 4,618,380 (GRCm39) I325N probably benign Het
Atad2b T A 12: 5,074,591 (GRCm39) I1050N probably damaging Het
Brms1l T C 12: 55,912,742 (GRCm39) V245A probably benign Het
Cadps2 T A 6: 23,263,561 (GRCm39) D1270V probably damaging Het
Cdh23 A T 10: 60,246,639 (GRCm39) M936K possibly damaging Het
Cenpj A G 14: 56,792,666 (GRCm39) probably benign Het
Dner T C 1: 84,563,030 (GRCm39) probably benign Het
Dzip1 T A 14: 119,124,609 (GRCm39) R555* probably null Het
Enpp4 A T 17: 44,412,772 (GRCm39) L254* probably null Het
Erich3 T A 3: 154,444,788 (GRCm39) D518E probably benign Het
Gli2 G A 1: 118,765,236 (GRCm39) R972C probably damaging Het
Gpc1 G A 1: 92,785,031 (GRCm39) R358H possibly damaging Het
Heg1 T C 16: 33,581,173 (GRCm39) L1192P probably damaging Het
Il16 T A 7: 83,312,349 (GRCm39) Q445L probably benign Het
Il17d C T 14: 57,779,777 (GRCm39) probably benign Het
Kmt2c A T 5: 25,520,301 (GRCm39) N1936K probably benign Het
Lrrc45 T C 11: 120,609,064 (GRCm39) probably benign Het
Mib2 C T 4: 155,743,917 (GRCm39) G42S probably damaging Het
Mphosph9 T A 5: 124,400,100 (GRCm39) R934* probably null Het
Nek11 T A 9: 105,172,570 (GRCm39) probably null Het
Nf1 T C 11: 79,329,537 (GRCm39) S634P probably benign Het
Or14c40 T A 7: 86,313,314 (GRCm39) M148K probably damaging Het
Pkhd1l1 T C 15: 44,396,355 (GRCm39) V1959A probably benign Het
Pkp2 G T 16: 16,043,894 (GRCm39) G216V probably benign Het
Ppp1r16a T C 15: 76,578,211 (GRCm39) L394P probably damaging Het
Ptprc G A 1: 137,996,139 (GRCm39) Q1070* probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rprd2 A T 3: 95,672,730 (GRCm39) I891N probably damaging Het
Speer1e A T 5: 11,236,488 (GRCm39) T174S probably benign Het
Taf15 T C 11: 83,389,932 (GRCm39) I40T probably damaging Het
Tshz1 A G 18: 84,031,178 (GRCm39) Y1077H probably damaging Het
Ttn T C 2: 76,693,833 (GRCm39) E223G possibly damaging Het
Other mutations in Grb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Grb7 APN 11 98,343,100 (GRCm39) unclassified probably benign
IGL01567:Grb7 APN 11 98,345,776 (GRCm39) missense probably damaging 1.00
IGL01958:Grb7 APN 11 98,345,480 (GRCm39) missense probably damaging 0.98
IGL03115:Grb7 APN 11 98,341,945 (GRCm39) missense probably damaging 1.00
PIT4458001:Grb7 UTSW 11 98,344,655 (GRCm39) nonsense probably null
R0455:Grb7 UTSW 11 98,343,014 (GRCm39) missense probably benign 0.00
R0586:Grb7 UTSW 11 98,344,046 (GRCm39) missense probably damaging 1.00
R2960:Grb7 UTSW 11 98,343,087 (GRCm39) missense probably damaging 1.00
R3981:Grb7 UTSW 11 98,345,391 (GRCm39) unclassified probably benign
R4194:Grb7 UTSW 11 98,345,881 (GRCm39) unclassified probably benign
R4809:Grb7 UTSW 11 98,342,262 (GRCm39) missense possibly damaging 0.86
R6033:Grb7 UTSW 11 98,346,023 (GRCm39) splice site probably null
R7120:Grb7 UTSW 11 98,345,817 (GRCm39) missense probably benign
R9280:Grb7 UTSW 11 98,345,248 (GRCm39) missense probably damaging 0.99
Z1176:Grb7 UTSW 11 98,345,310 (GRCm39) missense probably damaging 1.00
Z1176:Grb7 UTSW 11 98,344,797 (GRCm39) critical splice acceptor site probably null
Predicted Primers PCR Primer
(F):5'- TCTTCAAGGTGAGACGCCTGGAATG -3'
(R):5'- TTATCAATGACACGCCCCGCATGG -3'

Sequencing Primer
(F):5'- ACGCCTGGAATGGCTGTG -3'
(R):5'- AGTCCATAGCCACTAGGGTATTG -3'
Posted On 2013-11-08