Incidental Mutation 'R4194:Grb7'
ID 318493
Institutional Source Beutler Lab
Gene Symbol Grb7
Ensembl Gene ENSMUSG00000019312
Gene Name growth factor receptor bound protein 7
Synonyms
MMRRC Submission 041025-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4194 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98337660-98346199 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to A at 98345881 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000119926 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019456] [ENSMUST00000132771]
AlphaFold Q03160
Predicted Effect probably benign
Transcript: ENSMUST00000019456
SMART Domains Protein: ENSMUSP00000019456
Gene: ENSMUSG00000019312

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (54/55)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 A T 4: 85,972,245 (GRCm39) probably benign Het
Adgrv1 C A 13: 81,647,115 (GRCm39) V3142F probably damaging Het
Alms1 C T 6: 85,654,972 (GRCm39) Q3173* probably null Het
Ankrd26 A G 6: 118,500,639 (GRCm39) F944S probably benign Het
Arhgap11a G T 2: 113,672,339 (GRCm39) H210N probably benign Het
Brca1 T C 11: 101,416,113 (GRCm39) N674D probably benign Het
Bud13 T A 9: 46,209,793 (GRCm39) V634E probably damaging Het
Capn13 C T 17: 73,646,479 (GRCm39) M311I possibly damaging Het
Cdyl2 T C 8: 117,305,903 (GRCm39) probably null Het
Celsr3 T C 9: 108,720,501 (GRCm39) probably null Het
Col6a5 C G 9: 105,823,113 (GRCm39) E81D unknown Het
Ctbs C A 3: 146,156,368 (GRCm39) H38N probably benign Het
Ctnnd1 T C 2: 84,434,045 (GRCm39) D897G possibly damaging Het
Cyp2d41-ps T C 15: 82,666,154 (GRCm39) noncoding transcript Het
Dnttip2 G A 3: 122,074,410 (GRCm39) E616K probably damaging Het
Epb41l5 A T 1: 119,535,823 (GRCm39) S348R probably damaging Het
Fam185a A G 5: 21,630,452 (GRCm39) H96R probably benign Het
Fbxo11 T C 17: 88,316,536 (GRCm39) D279G possibly damaging Het
Gm3952 C A 8: 129,486,346 (GRCm39) G1578V probably damaging Het
Grik1 A G 16: 87,743,616 (GRCm39) V537A probably benign Het
H2-Eb2 T A 17: 34,552,300 (GRCm39) N48K probably benign Het
Kank3 A G 17: 34,041,237 (GRCm39) probably benign Het
Kifap3 T C 1: 163,743,394 (GRCm39) S792P probably benign Het
Klhl35 A T 7: 99,123,058 (GRCm39) probably null Het
Lpxn T C 19: 12,810,599 (GRCm39) F348L probably damaging Het
Mef2d A G 3: 88,065,610 (GRCm39) Y114C possibly damaging Het
Mfap3 T A 11: 57,420,529 (GRCm39) L170H probably damaging Het
Mical1 C G 10: 41,357,624 (GRCm39) F410L possibly damaging Het
Mppe1 G A 18: 67,361,139 (GRCm39) S206F probably benign Het
Myo9b C T 8: 71,812,268 (GRCm39) A2013V possibly damaging Het
Phactr3 T C 2: 177,924,902 (GRCm39) V243A possibly damaging Het
Ppp4r4 T C 12: 103,524,704 (GRCm39) L92P probably damaging Het
Prss59 A T 6: 40,898,005 (GRCm39) V226E probably damaging Het
Rap1gds1 C T 3: 138,664,851 (GRCm39) D236N probably damaging Het
Rnf8 T C 17: 29,850,642 (GRCm39) probably benign Het
Rpl31-ps17 C T 12: 54,748,434 (GRCm39) noncoding transcript Het
Sfta2 T C 17: 35,939,057 (GRCm39) probably null Het
Sipa1l2 T A 8: 126,218,411 (GRCm39) T309S probably benign Het
Sos1 T C 17: 80,706,013 (GRCm39) D1186G probably benign Het
Sptb C A 12: 76,659,784 (GRCm39) V1039F probably benign Het
Sycp3 T C 10: 88,299,237 (GRCm39) V68A probably benign Het
Tas1r3 T C 4: 155,947,442 (GRCm39) E81G probably damaging Het
Ttc3 G A 16: 94,223,136 (GRCm39) R253H probably damaging Het
Ugt1a7c A G 1: 88,023,449 (GRCm39) T203A possibly damaging Het
Vtcn1 A T 3: 100,795,525 (GRCm39) E164V probably damaging Het
Zan T C 5: 137,461,817 (GRCm39) T1121A unknown Het
Zfp473 T C 7: 44,381,676 (GRCm39) I885V probably benign Het
Zfp990 A T 4: 145,263,547 (GRCm39) probably null 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
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
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'- TACTTCAGCATGGATGAGGGC -3'
(R):5'- CAGTCTGTACAGATTACGGGTGG -3'

Sequencing Primer
(F):5'- GCCAGACCCGTTTCACAG -3'
(R):5'- TGGAACAGTACCTCAGGAGCTC -3'
Posted On 2015-06-10