Incidental Mutation 'R0455:Grb7'
ID 39972
Institutional Source Beutler Lab
Gene Symbol Grb7
Ensembl Gene ENSMUSG00000019312
Gene Name growth factor receptor bound protein 7
Synonyms
MMRRC Submission 038655-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0455 (G1)
Quality Score 187
Status Validated
Chromosome 11
Chromosomal Location 98337660-98346199 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 98343014 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 244 (S244A)
Ref Sequence ENSEMBL: ENSMUSP00000019456 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019456] [ENSMUST00000132771]
AlphaFold Q03160
Predicted Effect probably benign
Transcript: ENSMUST00000019456
AA Change: S244A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000019456
Gene: ENSMUSG00000019312
AA Change: S244A

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 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.8%
Validation Efficiency 100% (56/56)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik C T 4: 103,088,180 (GRCm39) G342D possibly damaging Het
Acvr2b C T 9: 119,261,675 (GRCm39) R399W probably damaging Het
Arb2a T A 13: 77,982,832 (GRCm39) probably benign Het
Atf6 A G 1: 170,662,492 (GRCm39) V256A probably benign Het
Atp2b4 A T 1: 133,656,454 (GRCm39) I732N probably damaging Het
C1qtnf9 A C 14: 61,009,820 (GRCm39) Q25H probably damaging Het
Ccdc6 T A 10: 69,978,401 (GRCm39) probably benign Het
Cds2 T C 2: 132,127,887 (GRCm39) probably null Het
Chdh A G 14: 29,756,603 (GRCm39) Y343C probably damaging Het
Col5a2 T C 1: 45,421,262 (GRCm39) probably benign Het
Cts3 G A 13: 61,716,024 (GRCm39) probably benign Het
Cyfip1 T A 7: 55,541,802 (GRCm39) D362E probably benign Het
Dsg1b T A 18: 20,529,082 (GRCm39) S273T probably benign Het
Dysf A T 6: 84,117,649 (GRCm39) H1274L probably benign Het
Eva1c T C 16: 90,672,986 (GRCm39) S187P probably benign Het
Fam13b G A 18: 34,578,581 (GRCm39) probably benign Het
Fbn2 C T 18: 58,168,408 (GRCm39) G2310S probably damaging Het
Fcna T C 2: 25,515,520 (GRCm39) Y183C probably damaging Het
Fnta T C 8: 26,491,056 (GRCm39) T263A probably benign Het
Gm94 T C 18: 43,914,309 (GRCm39) D83G possibly damaging Het
Gnal C T 18: 67,268,720 (GRCm39) probably benign Het
Grm3 T C 5: 9,562,477 (GRCm39) T458A probably benign Het
Hdac2 C T 10: 36,867,832 (GRCm39) R193C probably damaging Het
Hycc2 T C 1: 58,573,638 (GRCm39) probably benign Het
Ighmbp2 T C 19: 3,315,072 (GRCm39) R783G probably benign Het
Inpp5j G T 11: 3,453,122 (GRCm39) L43I possibly damaging Het
Itga11 A T 9: 62,604,243 (GRCm39) T44S probably damaging Het
Itsn1 C T 16: 91,665,036 (GRCm39) probably benign Het
Kdm6b G T 11: 69,297,822 (GRCm39) C233* probably null Het
Lamb3 T C 1: 193,025,700 (GRCm39) L1130P probably damaging Het
Lrch3 T C 16: 32,807,250 (GRCm39) F508L probably damaging Het
Lrrd1 T A 5: 3,916,425 (GRCm39) V814E probably benign Het
Megf10 C T 18: 57,386,054 (GRCm39) P356S probably benign Het
Myorg G A 4: 41,499,538 (GRCm39) R31* probably null Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Nus1 T A 10: 52,306,190 (GRCm39) V42E probably damaging Het
Or11g24 A G 14: 50,662,359 (GRCm39) I128V possibly damaging Het
Or2a51 A C 6: 43,179,006 (GRCm39) M143L probably benign Het
Padi3 T C 4: 140,523,024 (GRCm39) N306S probably damaging Het
Pex13 T C 11: 23,605,949 (GRCm39) S94G probably benign Het
Ppm1h G T 10: 122,638,229 (GRCm39) Q166H probably benign Het
Ptafr A T 4: 132,307,396 (GRCm39) Y262F probably benign Het
Rabgap1 T A 2: 37,377,132 (GRCm39) D321E probably damaging Het
Samsn1 C T 16: 75,742,113 (GRCm39) noncoding transcript Het
Scarb1 T C 5: 125,366,745 (GRCm39) N63D probably damaging Het
Serpinb7 T C 1: 107,379,340 (GRCm39) I249T possibly damaging Het
Srpra A G 9: 35,126,277 (GRCm39) K490R probably benign Het
Sycn A G 7: 28,240,398 (GRCm39) N22D probably benign Het
Tarbp1 C T 8: 127,167,612 (GRCm39) A1067T probably benign Het
Tex14 A G 11: 87,405,131 (GRCm39) D681G possibly damaging Het
Usp34 C T 11: 23,396,741 (GRCm39) probably benign Het
Vmn2r107 T C 17: 20,595,085 (GRCm39) probably benign Het
Vwde A T 6: 13,187,528 (GRCm39) M653K probably benign Het
Wrap73 T A 4: 154,233,200 (GRCm39) S125T 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
R0586:Grb7 UTSW 11 98,344,046 (GRCm39) missense probably damaging 1.00
R0942:Grb7 UTSW 11 98,344,634 (GRCm39) missense probably damaging 0.97
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'- TGGATGCACAAACAGGCATATCCC -3'
(R):5'- ACACAAGCAGAGGCTGATTCCAG -3'

Sequencing Primer
(F):5'- AAGTCATCCAGGGTTTCAGC -3'
(R):5'- TGCAAGTCTGGAGACAGCC -3'
Posted On 2013-05-23