Incidental Mutation 'IGL02069:Grasp'
ID185745
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Grasp
Ensembl Gene ENSMUSG00000000531
Gene NameGRP1 (general receptor for phosphoinositides 1)-associated scaffold protein
Synonymstamalin
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.156) question?
Stock #IGL02069
Quality Score
Status
Chromosome15
Chromosomal Location101224188-101232756 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101224465 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 55 (Y55C)
Ref Sequence ENSEMBL: ENSMUSP00000000543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000543]
Predicted Effect probably damaging
Transcript: ENSMUST00000000543
AA Change: Y55C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000000543
Gene: ENSMUSG00000000531
AA Change: Y55C

DomainStartEndE-ValueType
low complexity region 30 57 N/A INTRINSIC
PDZ 109 189 2.12e-13 SMART
low complexity region 248 277 N/A INTRINSIC
low complexity region 291 312 N/A INTRINSIC
low complexity region 336 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229239
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229610
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that functions as a molecular scaffold, linking receptors, including group 1 metabotropic glutamate receptors, to neuronal proteins. The encoded protein contains conserved domains, including a leucine zipper sequence, PDZ domain and a C-terminal PDZ-binding motif. Alternately spliced transcript variants have been observed for this gene.[provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for targeted null mutations develop and behave normally under ordinary conditions but display a marked reduction in sensitivity to acute morphine responses and impaired adaptive responses to morphine and cocaine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G A 7: 79,092,752 V569M possibly damaging Het
Alms1 T C 6: 85,628,823 V2016A probably benign Het
Apcdd1 T A 18: 62,949,983 W295R probably damaging Het
Arid5b T A 10: 68,097,399 D648V probably damaging Het
C2cd6 A G 1: 59,052,541 probably benign Het
Cst12 A T 2: 148,792,448 D101V probably damaging Het
Cyp46a1 T A 12: 108,346,135 Y135N probably benign Het
D630045J12Rik T C 6: 38,184,072 S1046G probably damaging Het
Dhtkd1 A T 2: 5,930,934 Y122* probably null Het
Disp2 T A 2: 118,790,680 I631N possibly damaging Het
Dna2 A G 10: 62,958,994 I387V probably benign Het
Dnah7a A T 1: 53,561,894 probably benign Het
Eif2ak3 T C 6: 70,896,965 F954S probably damaging Het
Fancm C A 12: 65,075,911 A69D probably benign Het
Fbxo34 T A 14: 47,529,613 D143E probably damaging Het
Fchsd1 G A 18: 37,967,614 R144* probably null Het
Fip1l1 A G 5: 74,591,873 D402G probably damaging Het
Frem1 A G 4: 82,903,551 S2107P probably damaging Het
Gm1527 A G 3: 28,926,614 N621S possibly damaging Het
Hddc2 G A 10: 31,316,318 D54N probably damaging Het
Ighm T A 12: 113,421,148 probably benign Het
Ikbkap C T 4: 56,779,731 G560D probably benign Het
Il17d G T 14: 57,542,515 E165* probably null Het
Kmt5b A T 19: 3,807,335 K364M probably damaging Het
Ldb1 C A 19: 46,033,178 W390L possibly damaging Het
Lgmn T C 12: 102,404,299 E124G possibly damaging Het
Mroh2b A G 15: 4,904,324 probably benign Het
Pga5 C T 19: 10,669,399 G323S possibly damaging Het
Pkd1l3 A T 8: 109,635,380 N1018I probably damaging Het
Polr2b A G 5: 77,343,197 T962A probably benign Het
Ptger1 A G 8: 83,669,457 E381G probably benign Het
Sec24a A T 11: 51,733,934 probably benign Het
Serpine2 T A 1: 79,821,412 I42F possibly damaging Het
Sh3tc1 C T 5: 35,718,995 R122Q probably benign Het
Slc15a2 T C 16: 36,759,251 I347V probably benign Het
Snx4 T C 16: 33,264,355 Y80H probably damaging Het
Spata16 C A 3: 26,732,795 C207* probably null Het
Syne2 A G 12: 75,927,412 Q1128R probably benign Het
Trpm4 T A 7: 45,319,294 N405I probably damaging Het
Upp2 A G 2: 58,771,417 probably benign Het
Other mutations in Grasp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Grasp APN 15 101228896 splice site probably benign
IGL02516:Grasp APN 15 101229051 missense probably damaging 1.00
IGL02997:Grasp APN 15 101231018 missense probably damaging 1.00
IGL03079:Grasp APN 15 101230567 missense probably damaging 1.00
R0020:Grasp UTSW 15 101230552 missense probably damaging 1.00
R0020:Grasp UTSW 15 101230552 missense probably damaging 1.00
R1916:Grasp UTSW 15 101226969 splice site probably benign
R1952:Grasp UTSW 15 101224500 missense probably benign 0.07
R4247:Grasp UTSW 15 101224537 missense possibly damaging 0.55
R5040:Grasp UTSW 15 101229042 missense probably damaging 1.00
R5117:Grasp UTSW 15 101230537 missense probably damaging 1.00
R7290:Grasp UTSW 15 101231538 missense probably damaging 1.00
Posted On2014-05-07