Incidental Mutation 'IGL02997:Grasp'
ID407168
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: 0.159) question?
Stock #IGL02997
Quality Score
Status
Chromosome15
Chromosomal Location101224188-101232756 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 101231018 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 216 (S216P)
Ref Sequence ENSEMBL: ENSMUSP00000000543 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000543]
Predicted Effect probably damaging
Transcript: ENSMUST00000000543
AA Change: S216P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000000543
Gene: ENSMUSG00000000531
AA Change: S216P

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
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A G 11: 110,075,533 probably benign Het
Adamts15 T C 9: 30,906,057 probably benign Het
Arsa T C 15: 89,474,038 D356G probably damaging Het
Cmbl A G 15: 31,585,344 K113E probably benign Het
Cmklr1 T C 5: 113,614,640 D100G probably benign Het
Col23a1 T A 11: 51,577,152 C517S probably damaging Het
Diexf T C 1: 193,120,584 Q275R probably benign Het
Frem1 T A 4: 82,934,968 L1699F probably damaging Het
Ganab A G 19: 8,915,412 D900G probably benign Het
Glrp1 T C 1: 88,509,785 probably benign Het
Gm7030 A G 17: 36,127,836 V221A possibly damaging Het
Gys2 A T 6: 142,449,469 D423E probably damaging Het
Hp C A 8: 109,575,786 V177F probably damaging Het
Isoc1 T C 18: 58,671,444 probably benign Het
Kif18b A G 11: 102,909,084 L513P probably damaging Het
Kifc2 T C 15: 76,664,339 V342A possibly damaging Het
Krt78 A T 15: 101,947,163 S738T probably benign Het
Lats1 A G 10: 7,702,254 N381D possibly damaging Het
Masp2 C A 4: 148,603,175 probably benign Het
Mybpc1 G T 10: 88,526,373 N982K probably damaging Het
Ncor2 A T 5: 125,119,570 probably benign Het
Nkg7 T C 7: 43,437,867 F133L probably damaging Het
Nlrp1a A T 11: 71,123,665 I253N probably damaging Het
Nlrp4e G T 7: 23,301,374 Q31H probably benign Het
Olfr1184 A C 2: 88,487,388 I219L probably damaging Het
Orc6 T A 8: 85,306,208 probably benign Het
Pbrm1 C T 14: 31,061,551 L542F probably damaging Het
Pcdh10 T C 3: 45,379,362 I37T probably damaging Het
Pex5l C A 3: 32,955,842 probably benign Het
Prl2b1 A G 13: 27,385,104 probably benign Het
Rnf168 G A 16: 32,285,421 E146K probably damaging Het
Rsph6a T G 7: 19,054,839 L32R probably benign Het
Scaper C T 9: 55,815,499 R675H probably damaging Het
Sf3a2 G A 10: 80,803,620 R148H probably damaging Het
Shank2 A G 7: 144,081,873 N328S probably benign Het
Smurf1 T A 5: 144,898,005 R153* probably null Het
Sorcs2 C T 5: 36,068,148 V126M probably damaging Het
Trav7d-4 T C 14: 52,770,256 S69P probably damaging Het
Trh G T 6: 92,243,134 probably benign Het
Utp20 A G 10: 88,814,034 V438A probably benign Het
Wdfy3 T C 5: 101,894,912 E1991G probably null Het
Other mutations in Grasp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01062:Grasp APN 15 101228896 splice site probably benign
IGL02069:Grasp APN 15 101224465 missense probably damaging 1.00
IGL02516:Grasp APN 15 101229051 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 On2016-08-02