Incidental Mutation 'IGL00780:Grb14'
ID11134
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grb14
Ensembl Gene ENSMUSG00000026888
Gene Namegrowth factor receptor bound protein 14
Synonyms
Accession Numbers

Ncbi RefSeq: NM_016719.1; MGI:1355324

Is this an essential gene? Probably non essential (E-score: 0.205) question?
Stock #IGL00780
Quality Score
Status
Chromosome2
Chromosomal Location64912476-65024987 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 64914718 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 99 (P99S)
Ref Sequence ENSEMBL: ENSMUSP00000118115 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028252] [ENSMUST00000149193] [ENSMUST00000150643]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028252
AA Change: P490S

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028252
Gene: ENSMUSG00000026888
AA Change: P490S

DomainStartEndE-ValueType
RA 104 190 2.88e-23 SMART
PH 233 342 1.91e-10 SMART
Pfam:BPS 367 415 1.5e-31 PFAM
SH2 435 524 5.34e-28 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134020
Predicted Effect probably damaging
Transcript: ENSMUST00000149193
AA Change: P99S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118115
Gene: ENSMUSG00000026888
AA Change: P99S

DomainStartEndE-ValueType
Pfam:BPS 1 24 3e-13 PFAM
SH2 44 108 2.54e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150643
SMART Domains Protein: ENSMUSP00000121571
Gene: ENSMUSG00000026888

DomainStartEndE-ValueType
Pfam:BPS 1 49 3.1e-34 PFAM
SCOP:d1a81a2 51 93 3e-8 SMART
Blast:RA 61 93 1e-12 BLAST
PDB:2AUG|B 65 93 4e-12 PDB
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3029164
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 insulin receptors and insulin-like growth-factor receptors. This protein likely has an inhibitory effect on receptor tyrosine kinase signaling and, in particular, on insulin receptor signaling. This gene may play a role in signaling pathways that regulate growth and metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Homozygous mutation of this gene results in improved glucose tolerance, lower circulating insulin levels and increased incorporation of glucose into glycogen in the liver and skeletal muscle of males. Both males and females exhibit a decrease in body size. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182L06Rik A G 5: 9,422,367 T355A probably damaging Het
Abi3bp A G 16: 56,602,805 D440G probably null Het
Acvrl1 T A 15: 101,137,367 F258Y probably damaging Het
Ano1 A G 7: 144,655,630 S278P probably damaging Het
AW146154 T C 7: 41,480,459 Y411C probably damaging Het
Blnk T A 19: 40,934,446 K412M probably benign Het
Clpb C T 7: 101,778,608 R387* probably null Het
Dach1 A T 14: 97,901,422 N528K possibly damaging Het
Dag1 A T 9: 108,209,619 W108R probably damaging Het
Fbn2 T C 18: 58,095,988 T717A probably damaging Het
Fnbp1l T C 3: 122,549,249 D394G possibly damaging Het
Gaa T A 11: 119,274,291 probably null Het
Gpr158 A T 2: 21,826,818 K910* probably null Het
Gtf2h2 T C 13: 100,479,221 D264G probably benign Het
Heatr3 A G 8: 88,170,940 I667V probably benign Het
Hsp90ab1 T C 17: 45,569,564 N407S probably damaging Het
Htr2a A T 14: 74,706,205 L408F possibly damaging Het
Itgb5 G A 16: 33,884,975 V212I probably damaging Het
Kmt2c G A 5: 25,311,051 T2598I probably benign Het
Lcorl T C 5: 45,747,295 N137S probably damaging Het
Lef1 T C 3: 131,193,130 F212L possibly damaging Het
Map2k5 T C 9: 63,281,077 probably benign Het
Med15 G A 16: 17,653,487 T642I probably damaging Het
Nasp C A 4: 116,603,999 E274* probably null Het
Nup210l A T 3: 90,190,849 probably benign Het
Pgghg T C 7: 140,945,351 probably null Het
Plpp1 A G 13: 112,851,506 I54M probably damaging Het
Poldip3 C T 15: 83,138,479 G35R probably damaging Het
Ppig A T 2: 69,732,924 E81D possibly damaging Het
Ptpn21 G T 12: 98,680,371 T999K probably damaging Het
Rad9b T C 5: 122,344,247 I142V probably benign Het
Ralgps1 A T 2: 33,273,627 H139Q probably damaging Het
Rdh16f2 T C 10: 127,875,092 probably null Het
Sema3d G A 5: 12,524,326 R265Q probably damaging Het
Svs1 A G 6: 48,987,739 D227G probably damaging Het
Tdp1 T C 12: 99,893,648 V198A possibly damaging Het
Trim43c A T 9: 88,841,856 D145V probably benign Het
Trpc4 C T 3: 54,302,175 P654S probably damaging Het
Yy1 T G 12: 108,815,537 I376S probably damaging Het
Zfp773 T A 7: 7,133,114 Q161L probably benign Het
Other mutations in Grb14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02267:Grb14 APN 2 64953616 missense probably damaging 1.00
IGL02902:Grb14 APN 2 64938418 missense probably damaging 1.00
R0066:Grb14 UTSW 2 64938492 critical splice acceptor site probably null
R0066:Grb14 UTSW 2 64938492 critical splice acceptor site probably null
R0658:Grb14 UTSW 2 64914727 nonsense probably null
R0681:Grb14 UTSW 2 64917287 missense probably damaging 1.00
R1215:Grb14 UTSW 2 64917264 missense probably benign 0.01
R1781:Grb14 UTSW 2 64975555 critical splice donor site probably null
R1932:Grb14 UTSW 2 64912802 missense probably damaging 1.00
R2034:Grb14 UTSW 2 64923529 splice site probably benign
R4405:Grb14 UTSW 2 64953622 missense probably damaging 1.00
R4505:Grb14 UTSW 2 65022568 missense probably damaging 0.97
R4580:Grb14 UTSW 2 64953603 missense probably benign 0.29
R5216:Grb14 UTSW 2 64917309 missense probably benign 0.00
R5367:Grb14 UTSW 2 64917309 missense probably benign 0.00
R5369:Grb14 UTSW 2 64917309 missense probably benign 0.00
R5382:Grb14 UTSW 2 64914734 missense probably damaging 1.00
R5457:Grb14 UTSW 2 64917098 missense probably damaging 1.00
R5816:Grb14 UTSW 2 64917284 missense probably damaging 1.00
R6062:Grb14 UTSW 2 65022620 missense possibly damaging 0.77
R7114:Grb14 UTSW 2 64916853 missense not run
X0021:Grb14 UTSW 2 64936425 missense probably null 0.26
Posted On2012-12-06