Incidental Mutation 'R5696:Grb10'
ID 450685
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
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R5696 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 11880499-11987428 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11883566 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 508 (N508I)
Ref Sequence ENSEMBL: ENSMUSP00000105281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093321] [ENSMUST00000109653] [ENSMUST00000109654]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000093321
AA Change: N563I

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000091011
Gene: ENSMUSG00000020176
AA Change: N563I

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 benign
Transcript: ENSMUST00000109653
AA Change: N517I

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000105280
Gene: ENSMUSG00000020176
AA Change: N517I

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 probably benign
Transcript: ENSMUST00000109654
AA Change: N508I

PolyPhen 2 Score 0.234 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105281
Gene: ENSMUSG00000020176
AA Change: N508I

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.6%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,569,159 (GRCm39) R186W probably benign Het
Afg3l2 A G 18: 67,540,529 (GRCm39) I660T probably damaging Het
Amtn T A 5: 88,532,944 (GRCm39) Y186* probably null Het
Atosa A G 9: 74,917,399 (GRCm39) E666G probably benign Het
Atrip A G 9: 108,894,569 (GRCm39) S453P possibly damaging Het
Bahcc1 T C 11: 120,164,813 (GRCm39) L840P probably damaging Het
Capn2 T C 1: 182,306,165 (GRCm39) E527G possibly damaging Het
Caprin2 A T 6: 148,779,316 (GRCm39) Y164N possibly damaging Het
Ccnh T A 13: 85,344,446 (GRCm39) probably null Het
Cdon G T 9: 35,403,162 (GRCm39) V1091F possibly damaging Het
Ceacam14 A G 7: 17,548,267 (GRCm39) Y119C probably damaging Het
Ces2h A G 8: 105,745,611 (GRCm39) K445E possibly damaging Het
Cfap46 A G 7: 139,191,947 (GRCm39) S2357P probably damaging Het
Commd4 A T 9: 57,063,499 (GRCm39) S86R possibly damaging Het
Cpsf6 A T 10: 117,196,934 (GRCm39) probably benign Het
Dag1 A T 9: 108,086,646 (GRCm39) V165E probably benign Het
Dmxl1 A T 18: 50,065,008 (GRCm39) K2618* probably null Het
Dnah17 A G 11: 117,991,882 (GRCm39) Y1229H probably benign Het
Endov T A 11: 119,382,625 (GRCm39) L24Q probably damaging Het
Fap C T 2: 62,332,803 (GRCm39) V717M probably damaging Het
Fbxl2 A G 9: 113,815,546 (GRCm39) L239P probably damaging Het
Fbxl5 A T 5: 43,916,182 (GRCm39) V367D possibly damaging Het
Fkbp10 G T 11: 100,314,352 (GRCm39) W384L probably damaging Het
Gbp8 C T 5: 105,166,682 (GRCm39) V216I possibly damaging Het
Gclm G A 3: 122,059,936 (GRCm39) A239T probably benign Het
Gm11569 C T 11: 99,689,556 (GRCm39) probably benign Het
Gnas C A 2: 174,141,468 (GRCm39) probably benign Het
Gykl1 T G 18: 52,827,267 (GRCm39) I158M probably benign Het
Ide G A 19: 37,295,420 (GRCm39) T214M unknown Het
Il12rb2 T A 6: 67,272,262 (GRCm39) Q341H possibly damaging Het
Ints1 T C 5: 139,740,744 (GRCm39) E1946G probably benign Het
Kdelr3 T C 15: 79,410,100 (GRCm39) probably null Het
Kif1b A C 4: 149,358,306 (GRCm39) probably null Het
Kri1 A G 9: 21,191,533 (GRCm39) I320T probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lin9 T C 1: 180,486,646 (GRCm39) S111P probably benign Het
Lpcat2b C A 5: 107,580,773 (GRCm39) P34Q probably damaging Het
Ltk T A 2: 119,590,080 (GRCm39) T49S probably benign Het
Map3k9 A T 12: 81,780,896 (GRCm39) H421Q probably benign Het
Mapkbp1 T A 2: 119,852,201 (GRCm39) probably null Het
Mcm4 A G 16: 15,443,434 (GRCm39) S830P probably damaging Het
Nek10 T A 14: 14,860,736 (GRCm38) probably null Het
Nlrp9b A T 7: 19,758,417 (GRCm39) R551S probably benign Het
Nol4l T C 2: 153,260,026 (GRCm39) T143A probably damaging Het
Or1r1 T C 11: 73,875,362 (GRCm39) H24R possibly damaging Het
Or51g1 T A 7: 102,633,748 (GRCm39) T208S probably benign Het
Or6z5 T C 7: 6,477,742 (GRCm39) probably null Het
Or7a39 A T 10: 78,715,919 (GRCm39) R304S probably benign Het
Pde4dip G T 3: 97,616,806 (GRCm39) A1812D probably damaging Het
Plekhb1 C A 7: 100,305,960 (GRCm39) G26C probably damaging Het
Polr1a T A 6: 71,906,410 (GRCm39) F409I probably benign Het
Ptpn13 T A 5: 103,702,625 (GRCm39) M1197K probably benign Het
Qrich2 T C 11: 116,335,828 (GRCm39) I2114V probably damaging Het
Rbm27 T C 18: 42,450,731 (GRCm39) Y449H probably damaging Het
Rp1l1 A G 14: 64,267,195 (GRCm39) D927G probably damaging Het
Secisbp2 C A 13: 51,833,857 (GRCm39) Q666K probably damaging Het
Slc45a2 T C 15: 11,001,219 (GRCm39) I106T probably damaging Het
Slx4 G T 16: 3,797,831 (GRCm39) Q1518K probably damaging Het
Smim10l1 T C 6: 133,082,489 (GRCm39) F12S probably damaging Het
Son T C 16: 91,468,301 (GRCm39) V306A possibly damaging Het
Stab1 A G 14: 30,882,178 (GRCm39) S506P probably benign Het
Syne2 A C 12: 76,040,919 (GRCm39) D3859A probably benign Het
Tab1 T A 15: 80,032,930 (GRCm39) Y71* probably null Het
Tarbp1 A C 8: 127,174,079 (GRCm39) M909R probably damaging Het
Tex15 T G 8: 34,063,220 (GRCm39) S1157R probably benign Het
Tnni3 G A 7: 4,523,453 (GRCm39) T120I probably benign Het
Ttn T C 2: 76,747,888 (GRCm39) E4387G probably benign Het
Ugt3a1 G A 15: 9,361,534 (GRCm39) silent Het
Unc5d T C 8: 29,156,870 (GRCm39) I783V probably benign Het
Usp40 T C 1: 87,923,474 (GRCm39) T266A probably benign Het
Vmn2r59 C T 7: 41,695,468 (GRCm39) V315I probably benign Het
Zbtb48 G T 4: 152,105,067 (GRCm39) H532N probably damaging Het
Zfp1005 C T 2: 150,111,394 (GRCm39) H695Y 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
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
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'- GTGTTCTCACCCTCATGCAG -3'
(R):5'- GAAACAGTTCTACCCTTGGTCC -3'

Sequencing Primer
(F):5'- GTTCTCACCCTCATGCAGATCTC -3'
(R):5'- TTCCACTGTGCCATTAGAGAAC -3'
Posted On 2017-01-03