Incidental Mutation 'R5289:Grb10'
ID 500946
Institutional Source Beutler Lab
Gene Symbol Grb10
Ensembl Gene ENSMUSG00000020176
Gene Name growth factor receptor bound protein 10
Synonyms 5730571D09Rik, Meg1, maternally expressed gene 1
MMRRC Submission 042872-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R5289 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 11880499-11987428 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 11894924 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000105281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093321] [ENSMUST00000109653] [ENSMUST00000109654]
AlphaFold no structure available at present
Predicted Effect silent
Transcript: ENSMUST00000093321
SMART Domains Protein: ENSMUSP00000091011
Gene: ENSMUSG00000020176

DomainStartEndE-ValueType
low complexity region 92 119 N/A INTRINSIC
RA 169 253 2.56e-20 SMART
PH 294 404 7.13e-10 SMART
Pfam:BPS 427 473 6.4e-31 PFAM
SH2 493 582 7.78e-30 SMART
Predicted Effect silent
Transcript: ENSMUST00000109653
SMART Domains Protein: ENSMUSP00000105280
Gene: ENSMUSG00000020176

DomainStartEndE-ValueType
low complexity region 92 119 N/A INTRINSIC
RA 169 253 2.56e-20 SMART
Blast:PH 285 358 1e-44 BLAST
Pfam:BPS 381 428 3.5e-33 PFAM
SH2 447 536 7.78e-30 SMART
Predicted Effect silent
Transcript: ENSMUST00000109654
SMART Domains Protein: ENSMUSP00000105281
Gene: ENSMUSG00000020176

DomainStartEndE-ValueType
RA 114 198 5.45e-24 SMART
PH 239 349 7.13e-10 SMART
Pfam:BPS 372 419 5.4e-33 PFAM
SH2 438 527 7.78e-30 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142877
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148254
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
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 insulin receptors and insulin-like growth-factor receptors. Overexpression of some isoforms of the encoded protein inhibits tyrosine kinase activity and results in growth suppression. This gene is imprinted in a highly isoform- and tissue-specific manner, with expression observed from the paternal allele in the brain, and from the maternal allele in the placental trophoblasts. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]
PHENOTYPE: Maternal transmission of a mutant allele results in both fetal and placental overgrowth. Disproportionate overgrowth of the liver is observed. Paternal transmission of an allele lacking the differentially methylated region results in growth retardation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A G 13: 81,669,203 (GRCm39) V1731A probably benign Het
Ahcyl1 A G 3: 107,577,206 (GRCm39) probably null Het
Aox1 T A 1: 58,131,717 (GRCm39) M1042K probably damaging Het
Atp10d C A 5: 72,412,466 (GRCm39) Q590K probably benign Het
Atp8b1 G T 18: 64,679,158 (GRCm39) N774K possibly damaging Het
Atrnl1 C T 19: 57,645,514 (GRCm39) T458M probably damaging Het
Bltp1 C A 3: 37,054,258 (GRCm39) Q3126K probably damaging Het
Cnr1 T A 4: 33,943,910 (GRCm39) C99* probably null Het
Cnr2 A G 4: 135,644,318 (GRCm39) Y132C probably damaging Het
Commd9 C T 2: 101,729,239 (GRCm39) A115V probably benign Het
Diaph3 A G 14: 87,219,114 (GRCm39) F426S probably damaging Het
Diras1 G A 10: 80,858,078 (GRCm39) Q58* probably null Het
Dnaaf6rt A T 1: 31,262,608 (GRCm39) I197F probably benign Het
Dpy19l2 A G 9: 24,607,293 (GRCm39) L56P probably benign Het
Dsc1 A T 18: 20,234,910 (GRCm39) V248D possibly damaging Het
Frem3 A G 8: 81,338,948 (GRCm39) M414V probably benign Het
Frmd4b G T 6: 97,279,309 (GRCm39) probably null Het
Gabarapl2 T C 8: 112,669,227 (GRCm39) W62R probably damaging Het
Glt1d1 A G 5: 127,721,420 (GRCm39) R36G probably benign Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Hc A G 2: 34,886,026 (GRCm39) probably null Het
Hgd A G 16: 37,448,913 (GRCm39) E379G possibly damaging Het
Ifi30 A T 8: 71,219,245 (GRCm39) probably benign Het
Iqgap1 T C 7: 80,388,472 (GRCm39) I842V possibly damaging Het
Iqsec3 T A 6: 121,363,659 (GRCm39) probably null Het
Kalrn A G 16: 34,072,711 (GRCm39) S724P possibly damaging Het
Lama2 C A 10: 27,088,069 (GRCm39) G903* probably null Het
Lrrc10 T C 10: 116,881,392 (GRCm39) V22A probably benign Het
Lzts3 T C 2: 130,478,021 (GRCm39) E245G probably benign Het
Man2a1 A G 17: 64,958,222 (GRCm39) T246A probably damaging Het
Mfsd13a A G 19: 46,356,719 (GRCm39) E240G probably benign Het
Mtor T C 4: 148,550,549 (GRCm39) I735T possibly damaging Het
Naa15 A T 3: 51,363,315 (GRCm39) H333L probably damaging Het
Nes C A 3: 87,885,725 (GRCm39) T1284K probably damaging Het
Nexn T G 3: 151,953,709 (GRCm39) H173P probably benign Het
Nid2 T C 14: 19,855,379 (GRCm39) V1173A possibly damaging Het
Npepps A G 11: 97,131,753 (GRCm39) probably null Het
Pgm1 T A 4: 99,824,266 (GRCm39) M313K probably damaging Het
Plag1 T A 4: 3,905,545 (GRCm39) K48N probably damaging Het
Prok1 G C 3: 107,146,935 (GRCm39) L11V probably benign Het
Ptpn9 T C 9: 56,967,347 (GRCm39) probably null Het
Skint8 C A 4: 111,807,390 (GRCm39) L359M probably damaging Het
Slc38a4 A T 15: 96,908,229 (GRCm39) F171I possibly damaging Het
Sycp1 A T 3: 102,841,569 (GRCm39) N78K possibly damaging Het
Tas2r110 T C 6: 132,844,972 (GRCm39) M1T probably null Het
Thoc2l G A 5: 104,667,523 (GRCm39) V682I probably benign Het
Tmem260 G A 14: 48,724,267 (GRCm39) V182M possibly damaging Het
Tmem30a A T 9: 79,683,436 (GRCm39) N144K probably damaging Het
Vmn2r108 A G 17: 20,691,866 (GRCm39) L219P probably damaging Het
Vmn2r57 A G 7: 41,049,398 (GRCm39) S784P probably damaging Het
Vwf T C 6: 125,644,473 (GRCm39) probably benign Het
Wdr62 A C 7: 29,967,300 (GRCm39) V318G probably damaging Het
Zfp398 T A 6: 47,840,115 (GRCm39) S115T probably benign Het
Zfp62 T A 11: 49,107,975 (GRCm39) C689S probably damaging Het
Zmynd15 C G 11: 70,356,830 (GRCm39) P580R unknown Het
Other mutations in Grb10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01367:Grb10 APN 11 11,895,599 (GRCm39) missense probably damaging 1.00
IGL01450:Grb10 APN 11 11,920,432 (GRCm39) missense probably damaging 1.00
IGL01872:Grb10 APN 11 11,920,547 (GRCm39) missense probably damaging 0.99
IGL02164:Grb10 APN 11 11,893,962 (GRCm39) missense probably damaging 1.00
IGL02508:Grb10 APN 11 11,896,767 (GRCm39) missense probably damaging 1.00
IGL02626:Grb10 APN 11 11,895,503 (GRCm39) missense probably benign 0.00
IGL03275:Grb10 APN 11 11,883,591 (GRCm39) missense possibly damaging 0.46
virginia UTSW 11 11,883,551 (GRCm39) missense probably damaging 1.00
R0042:Grb10 UTSW 11 11,886,798 (GRCm39) missense probably damaging 1.00
R0042:Grb10 UTSW 11 11,886,798 (GRCm39) missense probably damaging 1.00
R0089:Grb10 UTSW 11 11,884,192 (GRCm39) splice site probably benign
R0196:Grb10 UTSW 11 11,895,583 (GRCm39) missense probably damaging 1.00
R0419:Grb10 UTSW 11 11,884,207 (GRCm39) missense possibly damaging 0.87
R0645:Grb10 UTSW 11 11,886,755 (GRCm39) missense probably damaging 0.98
R1473:Grb10 UTSW 11 11,884,249 (GRCm39) missense probably damaging 1.00
R1848:Grb10 UTSW 11 11,896,029 (GRCm39) missense possibly damaging 0.78
R2025:Grb10 UTSW 11 11,920,576 (GRCm39) nonsense probably null
R4455:Grb10 UTSW 11 11,917,665 (GRCm39) missense possibly damaging 0.93
R4857:Grb10 UTSW 11 11,901,469 (GRCm39) unclassified probably benign
R5522:Grb10 UTSW 11 11,886,746 (GRCm39) missense probably benign 0.05
R5696:Grb10 UTSW 11 11,883,566 (GRCm39) missense probably benign 0.23
R6119:Grb10 UTSW 11 11,883,551 (GRCm39) missense probably damaging 1.00
R6163:Grb10 UTSW 11 11,893,932 (GRCm39) nonsense probably null
R6267:Grb10 UTSW 11 11,920,639 (GRCm39) start gained probably benign
R6328:Grb10 UTSW 11 11,887,905 (GRCm39) missense probably damaging 1.00
R6741:Grb10 UTSW 11 11,886,717 (GRCm39) critical splice donor site probably null
R7610:Grb10 UTSW 11 11,893,955 (GRCm39) missense probably benign 0.33
R7641:Grb10 UTSW 11 11,883,492 (GRCm39) missense possibly damaging 0.84
R8209:Grb10 UTSW 11 11,901,533 (GRCm39) missense probably damaging 0.99
R8226:Grb10 UTSW 11 11,901,533 (GRCm39) missense probably damaging 0.99
R8916:Grb10 UTSW 11 11,901,599 (GRCm39) missense probably benign 0.28
R9546:Grb10 UTSW 11 11,893,919 (GRCm39) missense probably benign 0.00
R9547:Grb10 UTSW 11 11,893,919 (GRCm39) missense probably benign 0.00
R9559:Grb10 UTSW 11 11,895,535 (GRCm39) missense probably damaging 1.00
Z1176:Grb10 UTSW 11 11,894,845 (GRCm39) missense possibly damaging 0.59
Predicted Primers PCR Primer
(F):5'- AACCAAATAGATACTGGCCAGG -3'
(R):5'- ATGGTTTTCACTCTACTGGAGC -3'

Sequencing Primer
(F):5'- TAGATACTGGCCAGGAGAAAACTCC -3'
(R):5'- GAGCTTATAGCACTACAGAC -3'
Posted On 2017-12-01