Incidental Mutation 'R0645:Grb10'
ID 57087
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 038830-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R0645 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 11880499-11987428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11886755 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 505 (S505P)
Ref Sequence ENSEMBL: ENSMUSP00000091011 (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: S505P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000091011
Gene: ENSMUSG00000020176
AA Change: S505P

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: S459P

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105280
Gene: ENSMUSG00000020176
AA Change: S459P

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: S450P

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105281
Gene: ENSMUSG00000020176
AA Change: S450P

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 0.8315 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 99% (94/95)
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 G T 8: 25,162,136 (GRCm39) Y46* probably null Het
Adam26b A C 8: 43,973,524 (GRCm39) C493G probably damaging Het
Ak5 A T 3: 152,359,252 (GRCm39) L182Q probably damaging Het
Akt1s1 T C 7: 44,498,645 (GRCm39) probably benign Het
Amhr2 G T 15: 102,354,863 (GRCm39) G133C probably damaging Het
Btbd9 A T 17: 30,743,941 (GRCm39) L187Q probably damaging Het
Ccdc117 A T 11: 5,484,385 (GRCm39) probably benign Het
Ccdc138 A T 10: 58,411,542 (GRCm39) I637F probably damaging Het
Ccdc162 A G 10: 41,462,407 (GRCm39) probably benign Het
Cdc25b C A 2: 131,033,533 (GRCm39) H157Q probably benign Het
Cdon A G 9: 35,388,379 (GRCm39) probably null Het
Cdt1 G A 8: 123,298,884 (GRCm39) probably benign Het
Cep350 C T 1: 155,816,458 (GRCm39) probably null Het
Cfb T C 17: 35,078,992 (GRCm39) K831R probably benign Het
Cldn4 C A 5: 134,975,645 (GRCm39) probably benign Het
Cntnap5b T C 1: 99,999,767 (GRCm39) probably benign Het
Cyp27b1 T G 10: 126,884,967 (GRCm39) S77A probably benign Het
Dlc1 T C 8: 37,041,203 (GRCm39) D1342G possibly damaging Het
Dlgap4 A G 2: 156,603,799 (GRCm39) H887R probably damaging Het
Duox2 A G 2: 122,123,139 (GRCm39) I503T probably damaging Het
Eml4 T C 17: 83,770,922 (GRCm39) probably benign Het
Ermap A G 4: 119,042,888 (GRCm39) S212P probably benign Het
Esrrg T A 1: 187,775,538 (GRCm39) C22S probably benign Het
Evx2 T A 2: 74,488,238 (GRCm39) Y194F possibly damaging Het
Fbn2 T G 18: 58,191,461 (GRCm39) D1554A probably damaging Het
Flrt1 G A 19: 7,074,508 (GRCm39) probably benign Het
Fndc5 A G 4: 129,033,630 (GRCm39) probably benign Het
Frem1 A T 4: 82,907,403 (GRCm39) I837N probably damaging Het
Fzd10 G T 5: 128,679,662 (GRCm39) A461S possibly damaging Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Gbp7 A G 3: 142,243,926 (GRCm39) probably null Het
Gm5919 T A 9: 83,765,436 (GRCm39) C91S unknown Het
Gpr31b A T 17: 13,271,093 (GRCm39) C25* probably null Het
Grm4 A T 17: 27,654,183 (GRCm39) V542E probably damaging Het
Gsta5 T C 9: 78,206,303 (GRCm39) I75T possibly damaging Het
Hivep3 G A 4: 119,954,531 (GRCm39) R949H possibly damaging Het
Hycc1 C T 5: 24,184,506 (GRCm39) G242D probably damaging Het
Invs A T 4: 48,407,653 (GRCm39) M543L probably benign Het
Kcnk2 T C 1: 188,988,927 (GRCm39) probably null Het
Kdm6b A T 11: 69,295,844 (GRCm39) S808T unknown Het
Klhl30 C T 1: 91,283,228 (GRCm39) R277W probably damaging Het
Lama1 A G 17: 68,080,707 (GRCm39) Q1245R probably benign Het
Lingo3 G T 10: 80,671,169 (GRCm39) H254N probably benign Het
Lzts1 A T 8: 69,588,392 (GRCm39) H521Q possibly damaging Het
Map3k19 A C 1: 127,749,919 (GRCm39) I1144S possibly damaging Het
Mast2 T C 4: 116,170,043 (GRCm39) probably benign Het
Mast2 A G 4: 116,165,184 (GRCm39) S1411P probably damaging Het
Mesp1 G T 7: 79,442,328 (GRCm39) S225R possibly damaging Het
Micu1 A G 10: 59,675,503 (GRCm39) T366A possibly damaging Het
Mideas G T 12: 84,205,077 (GRCm39) N834K possibly damaging Het
Mknk2 T C 10: 80,507,742 (GRCm39) probably null Het
Msh5 A G 17: 35,258,199 (GRCm39) L309P probably damaging Het
Myo7b T C 18: 32,127,962 (GRCm39) I577V probably benign Het
Myom2 T A 8: 15,167,698 (GRCm39) D1094E probably damaging Het
Nedd1 T C 10: 92,527,693 (GRCm39) probably null Het
Neu4 T C 1: 93,950,191 (GRCm39) L50S probably damaging Het
Noa1 T C 5: 77,457,722 (GRCm39) Y61C probably benign Het
Nr1h4 A T 10: 89,342,390 (GRCm39) M30K probably benign Het
Nsd3 A G 8: 26,199,096 (GRCm39) I1219V probably benign Het
Nup188 T A 2: 30,233,478 (GRCm39) probably null Het
Or10ag2 T A 2: 87,248,612 (GRCm39) Y71* probably null Het
Or5al5 A G 2: 85,961,378 (GRCm39) S210P probably damaging Het
Or6c208 T A 10: 129,224,162 (GRCm39) I220N possibly damaging Het
Or6k2 A T 1: 173,986,920 (GRCm39) T194S probably benign Het
Pbk G A 14: 66,051,245 (GRCm39) probably benign Het
Pcnx2 G A 8: 126,487,459 (GRCm39) T1848M possibly damaging Het
Pdzd7 C T 19: 45,033,914 (GRCm39) G57R possibly damaging Het
Pik3r4 C A 9: 105,546,386 (GRCm39) probably benign Het
Plce1 A G 19: 38,766,433 (GRCm39) S2153G probably damaging Het
Potefam1 C T 2: 111,044,928 (GRCm39) probably null Het
Pphln1 G A 15: 93,318,192 (GRCm39) V34M possibly damaging Het
Prrc2a T C 17: 35,375,308 (GRCm39) D1114G probably damaging Het
Prss16 T C 13: 22,193,546 (GRCm39) probably benign Het
Rtp3 T C 9: 110,816,168 (GRCm39) K128E probably damaging Het
Scn3a T A 2: 65,355,194 (GRCm39) I241F possibly damaging Het
Setd1a G A 7: 127,386,382 (GRCm39) V336I probably damaging Het
Sfpq A G 4: 126,916,762 (GRCm39) I320V possibly damaging Het
Skint5 A T 4: 113,620,679 (GRCm39) D678E unknown Het
Slc12a9 G A 5: 137,313,638 (GRCm39) P774S probably benign Het
Slc25a54 C G 3: 109,019,481 (GRCm39) L362V possibly damaging Het
Smarcd1 A G 15: 99,605,267 (GRCm39) probably null Het
Spata31e5 T A 1: 28,816,011 (GRCm39) N674Y probably damaging Het
Suco A T 1: 161,661,683 (GRCm39) M916K probably damaging Het
Tiam2 T C 17: 3,564,973 (GRCm39) S1404P possibly damaging Het
Topors T C 4: 40,260,333 (GRCm39) T984A unknown Het
Trabd2b A T 4: 114,443,767 (GRCm39) K308M probably damaging Het
Trmo A T 4: 46,377,083 (GRCm39) probably benign Het
Trpc3 A T 3: 36,725,654 (GRCm39) D107E probably benign Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Uggt2 A C 14: 119,295,010 (GRCm39) Y539D probably benign Het
Wwc2 T G 8: 48,353,674 (GRCm39) probably benign Het
Zdbf2 T A 1: 63,344,109 (GRCm39) D829E 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
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
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'- GCCATCTGAGGCTGCTCTTCTAAAG -3'
(R):5'- AGCTACCCCTGTACCATGCTACTG -3'

Sequencing Primer
(F):5'- TTGGCAAGGCCATCATACG -3'
(R):5'- ACCATGCTACTGGAGTTGAGC -3'
Posted On 2013-07-11