Incidental Mutation 'R3981:Grb7'
Institutional Source Beutler Lab
Gene Symbol Grb7
Ensembl Gene ENSMUSG00000019312
Gene Namegrowth factor receptor bound protein 7
MMRRC Submission 040943-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R3981 (G1)
Quality Score225
Status Validated
Chromosomal Location98446394-98455373 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to G at 98454565 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019456] [ENSMUST00000132771]
Predicted Effect probably benign
Transcript: ENSMUST00000019456
SMART Domains Protein: ENSMUSP00000019456
Gene: ENSMUSG00000019312

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

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
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 98% (58/59)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik C T 4: 42,971,534 T289I probably damaging Het
Abca13 T G 11: 9,532,407 C4313G probably benign Het
Alkbh2 C T 5: 114,124,226 E148K probably damaging Het
Bckdk C A 7: 127,905,418 R105S probably damaging Het
Bhlhe22 G T 3: 18,054,894 R36L probably damaging Het
Cacnb2 A G 2: 14,604,503 E18G probably benign Het
Cct2 G A 10: 117,054,135 P10L probably damaging Het
Cep295 G T 9: 15,317,067 probably benign Het
Cep89 A G 7: 35,438,383 R731G probably damaging Het
Chrnb3 C T 8: 27,394,006 T257M probably damaging Het
Clca3a1 T A 3: 144,755,309 T194S probably benign Het
Clca4b T C 3: 144,926,036 K236R probably benign Het
Col18a1 C A 10: 77,088,887 D23Y probably damaging Het
Cry1 A T 10: 85,146,592 Y297N probably damaging Het
Defb38 A G 8: 19,026,467 probably null Het
Dlgap1 A G 17: 70,516,785 K255R probably damaging Het
Erich6 T C 3: 58,636,704 E154G probably benign Het
Esf1 G A 2: 140,158,556 P437S probably benign Het
Fkbp7 A C 2: 76,663,257 N197K probably damaging Het
Fsip2 T A 2: 82,958,662 D342E probably benign Het
Gbx1 T C 5: 24,526,215 D201G probably benign Het
Gm15056 T A 8: 20,900,941 K25N possibly damaging Het
H2-M3 C T 17: 37,271,130 A159V probably damaging Het
Hcar1 T C 5: 123,878,620 N336S probably benign Het
Ift122 T C 6: 115,913,921 V807A probably benign Het
Maml2 T C 9: 13,621,068 V526A possibly damaging Het
Map3k20 C T 2: 72,438,227 T526I probably damaging Het
Mfap2 A G 4: 141,014,243 Q71R possibly damaging Het
Mmd2 T C 5: 142,564,799 Y228C probably damaging Het
Mme T A 3: 63,328,064 Y178N probably damaging Het
Mras T C 9: 99,411,416 D57G probably damaging Het
Muc5ac T C 7: 141,813,775 C2274R possibly damaging Het
Olfr1062 T A 2: 86,422,842 Y278F probably damaging Het
Palmd T C 3: 116,923,823 T342A probably benign Het
Prpmp5 G A 6: 132,312,694 P56S unknown Het
Rdh19 A G 10: 127,850,148 N43S probably benign Het
Ros1 G A 10: 52,120,878 H1233Y possibly damaging Het
Samd8 A G 14: 21,780,180 R225G probably null Het
Slc7a11 C A 3: 50,427,774 V175L probably benign Het
Spata31d1c A G 13: 65,035,111 T156A possibly damaging Het
Stxbp5 T C 10: 9,789,316 probably benign Het
Tec T A 5: 72,823,599 probably benign Het
Tex37 T C 6: 70,913,299 N170D possibly damaging Het
Vps16 T C 2: 130,442,594 W728R possibly damaging Het
Xirp1 T C 9: 120,017,744 E691G probably damaging Het
Zfp605 T C 5: 110,127,738 S241P probably damaging Het
Zfp839 G A 12: 110,866,331 G561D probably damaging Het
Other mutations in Grb7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01366:Grb7 APN 11 98452274 unclassified probably benign
IGL01567:Grb7 APN 11 98454950 missense probably damaging 1.00
IGL01958:Grb7 APN 11 98454654 missense probably damaging 0.98
IGL03115:Grb7 APN 11 98451119 missense probably damaging 1.00
PIT4458001:Grb7 UTSW 11 98453829 nonsense probably null
R0455:Grb7 UTSW 11 98452188 missense probably benign 0.00
R0586:Grb7 UTSW 11 98453220 missense probably damaging 1.00
R0942:Grb7 UTSW 11 98453808 missense probably damaging 0.97
R2960:Grb7 UTSW 11 98452261 missense probably damaging 1.00
R4194:Grb7 UTSW 11 98455055 unclassified probably benign
R4809:Grb7 UTSW 11 98451436 missense possibly damaging 0.86
R6033:Grb7 UTSW 11 98455197 unclassified probably null
R7120:Grb7 UTSW 11 98454991 missense probably benign
Z1176:Grb7 UTSW 11 98453971 critical splice acceptor site probably null
Z1176:Grb7 UTSW 11 98454484 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-10-08