Incidental Mutation 'IGL02251:Gprasp1'
ID 286400
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gprasp1
Ensembl Gene ENSMUSG00000043384
Gene Name G protein-coupled receptor associated sorting protein 1
Synonyms 3110031O14Rik, GASP1, 2210415K24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.145) question?
Stock # IGL02251
Quality Score
Status
Chromosome X
Chromosomal Location 134643482-134704223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 134701288 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 494 (V494I)
Ref Sequence ENSEMBL: ENSMUSP00000132225 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000113144] [ENSMUST00000113145] [ENSMUST00000113147] [ENSMUST00000166554]
AlphaFold Q5U4C1
Predicted Effect probably benign
Transcript: ENSMUST00000113144
AA Change: V494I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108769
Gene: ENSMUSG00000043384
AA Change: V494I

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 benign
Transcript: ENSMUST00000113145
AA Change: V494I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108770
Gene: ENSMUSG00000043384
AA Change: V494I

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 benign
Transcript: ENSMUST00000113147
AA Change: V494I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108772
Gene: ENSMUSG00000043384
AA Change: V494I

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 benign
Transcript: ENSMUST00000166554
AA Change: V494I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132225
Gene: ENSMUSG00000043384
AA Change: V494I

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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,626,840 (GRCm39) C1406R probably damaging Het
Acp2 T A 2: 91,038,678 (GRCm39) probably null Het
Antxr2 A C 5: 98,125,454 (GRCm39) probably null Het
Arhgef11 C T 3: 87,590,854 (GRCm39) R32C probably damaging Het
Armc6 A T 8: 70,677,870 (GRCm39) L153* probably null Het
Btnl2 G T 17: 34,582,213 (GRCm39) G260* probably null Het
Ccnf A G 17: 24,445,513 (GRCm39) S551P probably benign Het
Cdh19 A G 1: 110,882,382 (GRCm39) S37P probably benign Het
Cntnap3 T A 13: 64,909,850 (GRCm39) T752S probably damaging Het
Crispld1 A G 1: 17,799,064 (GRCm39) M62V probably benign Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dner G T 1: 84,361,747 (GRCm39) Q621K probably damaging Het
Dph6 A G 2: 114,366,004 (GRCm39) probably null Het
Dpp3 T G 19: 4,968,343 (GRCm39) H243P probably benign Het
Eif3j2 T A 18: 43,610,431 (GRCm39) K127N probably damaging Het
Esrp1 G A 4: 11,361,202 (GRCm39) R315C probably damaging Het
Gm973 A C 1: 59,621,582 (GRCm39) H574P probably benign Het
Hbb-bh1 T A 7: 103,492,017 (GRCm39) K66* probably null Het
Hoxb9 T A 11: 96,165,651 (GRCm39) M240K probably damaging Het
Irf2 T C 8: 47,260,788 (GRCm39) probably null Het
Lgi4 A G 7: 30,766,688 (GRCm39) probably null Het
Mylk3 C T 8: 86,081,805 (GRCm39) V328M probably benign Het
Nf2 T C 11: 4,798,873 (GRCm39) E38G probably null Het
Or4k40 A C 2: 111,250,657 (GRCm39) L213R probably damaging Het
Or51l14 A T 7: 103,100,978 (GRCm39) K145* probably null Het
Pdpk1 A G 17: 24,298,612 (GRCm39) F346L probably damaging Het
Prex1 T C 2: 166,419,806 (GRCm39) Y1120C probably damaging Het
Rab3gap1 A G 1: 127,865,237 (GRCm39) T742A probably benign Het
Scai A T 2: 38,989,429 (GRCm39) D401E probably benign Het
Scd1 T C 19: 44,386,533 (GRCm39) H298R probably damaging Het
Shld2 T C 14: 33,990,235 (GRCm39) R224G probably benign Het
Slc45a1 A G 4: 150,723,176 (GRCm39) probably benign Het
Smim10l1 G T 6: 133,082,471 (GRCm39) R6L probably damaging Het
Spag5 T G 11: 78,210,860 (GRCm39) F921C probably damaging Het
Sun1 T C 5: 139,227,186 (GRCm39) S667P probably damaging Het
Tas2r124 A G 6: 132,732,524 (GRCm39) I278V probably benign Het
Thbs1 G A 2: 117,943,999 (GRCm39) D206N probably benign Het
Trim37 T A 11: 87,058,256 (GRCm39) probably benign Het
Vcp T C 4: 42,988,728 (GRCm39) T249A possibly damaging Het
Vmn2r103 A G 17: 20,014,231 (GRCm39) N341S possibly damaging Het
Zmat3 A G 3: 32,399,732 (GRCm39) probably benign Het
Other mutations in Gprasp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02187:Gprasp1 APN X 134,699,912 (GRCm39) missense probably damaging 1.00
IGL02375:Gprasp1 APN X 134,701,552 (GRCm39) missense probably damaging 0.99
IGL02503:Gprasp1 APN X 134,703,279 (GRCm39) nonsense probably null
R2049:Gprasp1 UTSW X 134,702,791 (GRCm39) missense possibly damaging 0.57
R2141:Gprasp1 UTSW X 134,702,791 (GRCm39) missense possibly damaging 0.57
R2142:Gprasp1 UTSW X 134,702,791 (GRCm39) missense possibly damaging 0.57
R3107:Gprasp1 UTSW X 134,700,508 (GRCm39) missense probably benign 0.01
R4569:Gprasp1 UTSW X 134,703,592 (GRCm39) missense probably damaging 0.97
R4570:Gprasp1 UTSW X 134,703,592 (GRCm39) missense probably damaging 0.97
Z1088:Gprasp1 UTSW X 134,700,190 (GRCm39) missense possibly damaging 0.80
Posted On 2015-04-16