Incidental Mutation 'IGL02503:Gprasp1'
ID296151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gprasp1
Ensembl Gene ENSMUSG00000043384
Gene NameG protein-coupled receptor associated sorting protein 1
Synonyms2210415K24Rik, 3110031O14Rik, GASP1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.194) question?
Stock #IGL02503
Quality Score
Status
ChromosomeX
Chromosomal Location135742733-135803474 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 135802530 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 1157 (Y1157*)
Ref Sequence ENSEMBL: ENSMUSP00000132225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113144] [ENSMUST00000113145] [ENSMUST00000113147] [ENSMUST00000166554]
Predicted Effect probably null
Transcript: ENSMUST00000113144
AA Change: Y1157*
SMART Domains Protein: ENSMUSP00000108769
Gene: ENSMUSG00000043384
AA Change: Y1157*

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 1.3e-57 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113145
AA Change: Y1157*
SMART Domains Protein: ENSMUSP00000108770
Gene: ENSMUSG00000043384
AA Change: Y1157*

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 2.7e-55 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000113147
AA Change: Y1157*
SMART Domains Protein: ENSMUSP00000108772
Gene: ENSMUSG00000043384
AA Change: Y1157*

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 2.7e-55 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000166554
AA Change: Y1157*
SMART Domains Protein: ENSMUSP00000132225
Gene: ENSMUSG00000043384
AA Change: Y1157*

DomainStartEndE-ValueType
low complexity region 21 33 N/A INTRINSIC
internal_repeat_1 149 555 1.92e-17 PROSPERO
internal_repeat_2 259 559 1.83e-16 PROSPERO
internal_repeat_2 578 912 1.83e-16 PROSPERO
internal_repeat_1 584 970 1.92e-17 PROSPERO
low complexity region 1053 1064 N/A INTRINSIC
Pfam:Arm_2 1092 1339 1.3e-57 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207433
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 member of the GPRASP (G protein-coupled receptor associated sorting protein) family. The protein may modulate lysosomal sorting and functional down-regulation of a variety of G-protein coupled receptors. It targets receptors for degradation in lysosomes. The receptors interacting with this sorting protein include D2 dopamine receptor (DRD2), delta opioid receptor (OPRD1), beta-2 adrenergic receptor (ADRB2), D4 dopamine receptor (DRD4) and cannabinoid 1 receptor (CB1R). Multiple alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired behavioral response to cocaine. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy4 A T 14: 55,771,505 W822R probably damaging Het
Ago4 A T 4: 126,496,805 Y807* probably null Het
Alkbh8 G A 9: 3,347,852 G215D probably damaging Het
Cfap57 C T 4: 118,569,348 probably null Het
Cspg4 G A 9: 56,897,403 V1833M probably damaging Het
Cyp4f17 T C 17: 32,524,966 probably null Het
Dapk1 T A 13: 60,761,807 Y1411* probably null Het
Dmrtc1b T A X: 102,714,760 S199T possibly damaging Het
Elk4 A G 1: 132,014,539 N50D probably damaging Het
Filip1l T A 16: 57,571,575 V604E probably benign Het
Fmo3 A T 1: 162,968,864 H46Q probably benign Het
Fndc1 T A 17: 7,771,516 Y1116F unknown Het
Fpr-rs3 T A 17: 20,624,555 N108I probably damaging Het
Glmn A T 5: 107,562,778 M316K probably damaging Het
Gm5591 C A 7: 38,520,009 R480I probably damaging Het
Gm8122 G T 14: 43,235,188 R39S unknown Het
Hist2h2be A G 3: 96,221,223 T20A probably benign Het
Hsf1 T C 15: 76,498,670 L370P probably benign Het
Iqsec1 T A 6: 90,668,788 I809F probably damaging Het
Itsn1 G T 16: 91,889,204 M54I possibly damaging Het
Klra2 T C 6: 131,230,094 N184S probably benign Het
Lifr T A 15: 7,185,623 V737E probably damaging Het
Lrpprc T C 17: 84,726,339 T1037A probably benign Het
Map3k13 A T 16: 21,908,704 I439F possibly damaging Het
Megf8 T C 7: 25,363,563 V2448A possibly damaging Het
Mthfd1l T A 10: 4,083,824 V737D probably damaging Het
Mtm1 A G X: 71,299,670 T386A probably damaging Het
Muc5b T C 7: 141,867,667 V4298A probably benign Het
Olfr1053 C T 2: 86,314,639 G216R possibly damaging Het
Olfr1123 T G 2: 87,418,292 F81L probably benign Het
Olfr1143 A T 2: 87,802,520 I44F probably benign Het
Plch1 A G 3: 63,697,864 S1531P probably damaging Het
Poc1b T A 10: 99,144,348 probably benign Het
Rictor T A 15: 6,786,443 N1065K probably benign Het
Rpsa A G 9: 120,128,593 E35G possibly damaging Het
Scfd1 T A 12: 51,422,921 D416E possibly damaging Het
Sdad1 A T 5: 92,301,802 probably benign Het
Skor1 A G 9: 63,146,115 S191P probably damaging Het
Slc28a2 T C 2: 122,458,212 F600L probably benign Het
Tmem229b-ps A G 10: 53,475,154 noncoding transcript Het
Top2b A G 14: 16,407,163 M678V possibly damaging Het
Ttn T C 2: 76,786,763 N8092S probably damaging Het
Ttn C T 2: 76,741,689 V26287I probably damaging Het
Tulp4 T A 17: 6,213,391 I345N probably damaging Het
U2surp C T 9: 95,502,569 V21I probably benign Het
Ubr5 T C 15: 38,018,320 T859A possibly damaging Het
Ubr5 T C 15: 38,018,314 K861E probably damaging Het
Unc13d A G 11: 116,068,802 V617A possibly damaging Het
Vmn2r10 T C 5: 109,003,475 Y91C probably damaging Het
Vmn2r120 T A 17: 57,509,385 I657F probably benign Het
Wwc2 T C 8: 47,849,383 R931G unknown Het
Other mutations in Gprasp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02187:Gprasp1 APN X 135799163 missense probably damaging 1.00
IGL02251:Gprasp1 APN X 135800539 missense probably benign
IGL02375:Gprasp1 APN X 135800803 missense probably damaging 0.99
R2049:Gprasp1 UTSW X 135802042 missense possibly damaging 0.57
R2141:Gprasp1 UTSW X 135802042 missense possibly damaging 0.57
R2142:Gprasp1 UTSW X 135802042 missense possibly damaging 0.57
R3107:Gprasp1 UTSW X 135799759 missense probably benign 0.01
R4569:Gprasp1 UTSW X 135802843 missense probably damaging 0.97
R4570:Gprasp1 UTSW X 135802843 missense probably damaging 0.97
Z1088:Gprasp1 UTSW X 135799441 missense possibly damaging 0.80
Posted On2015-04-16