Incidental Mutation 'R1473:Grb10'
ID 165938
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 039526-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R1473 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 11880499-11987428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 11884249 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 486 (V486I)
Ref Sequence ENSEMBL: ENSMUSP00000105280 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093321] [ENSMUST00000109653] [ENSMUST00000109654]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000093321
AA Change: V532I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091011
Gene: ENSMUSG00000020176
AA Change: V532I

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 probably damaging
Transcript: ENSMUST00000109653
AA Change: V486I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105280
Gene: ENSMUSG00000020176
AA Change: V486I

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 possibly damaging
Transcript: ENSMUST00000109654
AA Change: V477I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105281
Gene: ENSMUSG00000020176
AA Change: V477I

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: ENSMUST00000124587
Meta Mutation Damage Score 0.6625 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 98% (88/90)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 T C 19: 57,056,668 (GRCm39) D342G probably damaging Het
Acad8 T C 9: 26,890,337 (GRCm39) T293A probably benign Het
Adamts13 C A 2: 26,871,765 (GRCm39) Y310* probably null Het
Adcy6 T A 15: 98,490,624 (GRCm39) Y1102F probably damaging Het
Ahctf1 G A 1: 179,603,673 (GRCm39) T791M probably benign Het
Ahctf1 A G 1: 179,626,844 (GRCm39) V18A probably damaging Het
Ahcyl T A 16: 45,975,182 (GRCm39) E65V probably damaging Het
Ampd3 T G 7: 110,404,142 (GRCm39) S564R probably damaging Het
Anapc1 A T 2: 128,459,617 (GRCm39) I1814K possibly damaging Het
Arl4c A T 1: 88,629,331 (GRCm39) L19Q probably damaging Het
Atp6v0e2 T C 6: 48,516,198 (GRCm39) Y49H probably damaging Het
Ccdc121rt3 T C 5: 112,502,415 (GRCm39) T430A probably benign Het
Ccdc24 G T 4: 117,727,101 (GRCm39) probably benign Het
Ceacam23 A G 7: 17,639,016 (GRCm39) noncoding transcript Het
Clcn6 A C 4: 148,108,613 (GRCm39) F139V possibly damaging Het
Col2a1 A G 15: 97,880,789 (GRCm39) probably benign Het
Crip2 T A 12: 113,107,120 (GRCm39) C29S probably damaging Het
Cyp2a4 A C 7: 26,014,188 (GRCm39) N455T probably benign Het
Dhcr7 T C 7: 143,400,805 (GRCm39) Y323H probably damaging Het
Dhcr7 A G 7: 143,395,105 (GRCm39) D113G probably damaging Het
Dnah7a A C 1: 53,535,173 (GRCm39) S2696A probably benign Het
Dnajc12 A G 10: 63,233,023 (GRCm39) T55A probably benign Het
Drosha G A 15: 12,912,606 (GRCm39) E1075K probably benign Het
Duox2 A G 2: 122,117,602 (GRCm39) S911P possibly damaging Het
Ephb2 G A 4: 136,421,369 (GRCm39) A327V possibly damaging Het
Espl1 C T 15: 102,228,878 (GRCm39) T1711I possibly damaging Het
Fmnl2 A G 2: 52,748,219 (GRCm39) K22R possibly damaging Het
Fzd6 T C 15: 38,894,358 (GRCm39) F175L probably damaging Het
Gm6526 A G 14: 43,986,303 (GRCm39) I76M probably damaging Het
Gm9881 A T 16: 90,967,623 (GRCm39) F34I unknown Het
Gm9892 T C 8: 52,649,649 (GRCm39) D148G possibly damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
H2bc18 G T 3: 96,177,388 (GRCm39) L107F probably damaging Het
Hdac4 T C 1: 91,957,690 (GRCm39) H108R possibly damaging Het
Hmcn1 G A 1: 150,648,303 (GRCm39) T661I probably benign Het
Icam1 T A 9: 20,939,172 (GRCm39) I515N probably damaging Het
Ifi208 A G 1: 173,523,220 (GRCm39) R497G possibly damaging Het
Igsf10 A T 3: 59,226,188 (GRCm39) V2495E probably damaging Het
Iqgap1 T C 7: 80,383,759 (GRCm39) M1102V probably benign Het
Itgb4 A T 11: 115,874,873 (GRCm39) N410I probably benign Het
Jup T C 11: 100,270,427 (GRCm39) H360R possibly damaging Het
Kif20b T A 19: 34,951,896 (GRCm39) S1685T possibly damaging Het
Lins1 T C 7: 66,361,794 (GRCm39) probably null Het
Lrig1 T A 6: 94,584,294 (GRCm39) T917S probably benign Het
Mast2 A G 4: 116,169,152 (GRCm39) S814P probably damaging Het
Mast4 T C 13: 102,909,027 (GRCm39) T483A probably damaging Het
Mcpt1 T C 14: 56,256,990 (GRCm39) M176T probably benign Het
Mettl22 A G 16: 8,291,825 (GRCm39) Q38R probably damaging Het
Mrm2 T C 5: 140,314,443 (GRCm39) T131A probably benign Het
Mtcl2 A T 2: 156,862,368 (GRCm39) Y1520* probably null Het
Nde1 T G 16: 14,003,728 (GRCm39) F71V probably benign Het
Nxn C T 11: 76,154,013 (GRCm39) G274D possibly damaging Het
Or4c123 A T 2: 89,127,250 (GRCm39) Y121* probably null Het
Or5h17 A T 16: 58,820,275 (GRCm39) T76S probably benign Het
Or6k14 G T 1: 173,927,315 (GRCm39) C97F probably damaging Het
Or6p1 T A 1: 174,258,209 (GRCm39) W72R probably damaging Het
Osbp2 T C 11: 3,667,175 (GRCm39) probably null Het
Otud7a C A 7: 63,404,377 (GRCm39) probably benign Het
Phf3 G A 1: 30,845,021 (GRCm39) L1313F probably damaging Het
Pkhd1 A T 1: 20,593,207 (GRCm39) D1635E probably benign Het
Plpp1 A G 13: 112,996,198 (GRCm39) H171R probably damaging Het
Pofut1 A G 2: 153,103,166 (GRCm39) M172V probably damaging Het
Prmt5 A G 14: 54,746,372 (GRCm39) F580L probably damaging Het
Rab11fip3 A T 17: 26,210,296 (GRCm39) L987Q probably damaging Het
Retnlb T A 16: 48,639,028 (GRCm39) C76* probably null Het
Rnf38 T C 4: 44,131,584 (GRCm39) N399S probably benign Het
Sbk1 A G 7: 125,891,424 (GRCm39) E286G possibly damaging Het
Scin T A 12: 40,127,501 (GRCm39) T430S probably benign Het
Sgsm1 T A 5: 113,411,123 (GRCm39) T868S probably benign Het
Sipa1l1 G A 12: 82,387,885 (GRCm39) R37H probably damaging Het
Smchd1 A T 17: 71,668,832 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Stk32c C T 7: 138,705,095 (GRCm39) R23Q probably damaging Het
Sult1d1 A G 5: 87,712,598 (GRCm39) M82T probably benign Het
Tat T C 8: 110,723,550 (GRCm39) L346P probably damaging Het
Tenm3 C A 8: 48,763,660 (GRCm39) G789V probably damaging Het
Thsd7a C T 6: 12,338,621 (GRCm39) S1203N probably benign Het
Tmem191 G A 16: 17,095,826 (GRCm39) probably null Het
Tmem268 A G 4: 63,498,575 (GRCm39) T239A probably damaging Het
Tmem82 A C 4: 141,343,589 (GRCm39) L227R possibly damaging Het
Ttn A T 2: 76,557,376 (GRCm39) I29906N probably damaging Het
Txndc15 T C 13: 55,869,387 (GRCm39) probably benign Het
Ubqln4 A G 3: 88,473,152 (GRCm39) I536V probably benign Het
Unc80 C T 1: 66,560,740 (GRCm39) H823Y possibly damaging Het
Vmn2r102 A T 17: 19,914,843 (GRCm39) I803F probably benign Het
Vmn2r6 G T 3: 64,445,579 (GRCm39) Y715* probably null Het
Vmn2r74 A T 7: 85,610,618 (GRCm39) C25S probably damaging Het
Wdr38 A G 2: 38,890,991 (GRCm39) T261A probably benign Het
Zfp653 T C 9: 21,969,516 (GRCm39) E250G possibly damaging 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
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
R5289:Grb10 UTSW 11 11,894,924 (GRCm39) splice site silent
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'- CTCAGCAACATTCCCTCTTGGAGTC -3'
(R):5'- GGTACTAGCACTCATGTGCCAGAAC -3'

Sequencing Primer
(F):5'- TTGAGAACTGCTTCCCCAGAC -3'
(R):5'- AGTATCATGGCTGCAAGCCC -3'
Posted On 2014-03-28