Incidental Mutation 'IGL01774:Pacs2'
ID154032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pacs2
Ensembl Gene ENSMUSG00000021143
Gene Namephosphofurin acidic cluster sorting protein 2
Synonyms6720425G15Rik, Pacs1l
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01774
Quality Score
Status
Chromosome12
Chromosomal Location113014508-113074401 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 113056842 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 278 (H278Q)
Ref Sequence ENSEMBL: ENSMUSP00000152439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084891] [ENSMUST00000220541] [ENSMUST00000223502]
Predicted Effect probably benign
Transcript: ENSMUST00000084891
AA Change: H278Q

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000081953
Gene: ENSMUSG00000021143
AA Change: H278Q

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
low complexity region 199 213 N/A INTRINSIC
low complexity region 281 296 N/A INTRINSIC
low complexity region 299 313 N/A INTRINSIC
Pfam:Pacs-1 474 888 1.4e-208 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220541
AA Change: H248Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000223502
AA Change: H278Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a gene trap allele exhibit decreased sensitivity to TRAIL-induced spleen apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,477,835 D708G probably damaging Het
Abca16 T C 7: 120,421,801 probably benign Het
Abcc5 T C 16: 20,378,457 D674G probably damaging Het
Abr A G 11: 76,464,299 probably benign Het
Arfgef3 A G 10: 18,743,615 I4T possibly damaging Het
Btla A G 16: 45,250,548 N290S possibly damaging Het
Catip C A 1: 74,368,483 R325S probably damaging Het
Cep120 A G 18: 53,706,830 L786P possibly damaging Het
Cnot8 A G 11: 58,115,307 I221V probably benign Het
Eloc A T 1: 16,645,789 D37E probably benign Het
Fabp12 A C 3: 10,247,694 N89K probably benign Het
Ficd G T 5: 113,739,012 R416L probably damaging Het
Frmd3 T C 4: 74,187,838 Y574H probably damaging Het
Frmd4a T C 2: 4,535,236 probably benign Het
Gatc G A 5: 115,341,017 Q45* probably null Het
Gm5414 T C 15: 101,626,975 D225G probably benign Het
Itpkc G T 7: 27,212,370 A592E probably benign Het
Kl G T 5: 150,988,483 V566L probably benign Het
Lpin1 T A 12: 16,558,476 D545V probably damaging Het
Mtcl1 T C 17: 66,385,885 Y483C probably damaging Het
Neb C T 2: 52,222,970 W67* probably null Het
Nrarp T C 2: 25,181,286 V59A possibly damaging Het
Nuf2 G A 1: 169,506,072 T345M probably benign Het
Olfr659 T C 7: 104,670,942 I80T probably benign Het
Pot1a T C 6: 25,753,277 K420R probably benign Het
Rag2 A G 2: 101,630,047 Y234C probably damaging Het
Ralgds C T 2: 28,550,542 Q88* probably null Het
Rictor T C 15: 6,769,777 S365P probably damaging Het
Slco1a1 G A 6: 141,925,613 Q276* probably null Het
Tas2r134 C T 2: 51,628,148 T213I probably benign Het
Tecpr1 A G 5: 144,211,540 I349T probably damaging Het
Tnxb T C 17: 34,688,839 S1286P probably damaging Het
Trafd1 A G 5: 121,375,050 V375A possibly damaging Het
Vmn2r110 T A 17: 20,583,627 I229L probably benign Het
Vnn1 T C 10: 23,900,710 Y320H probably benign Het
Zfp990 T C 4: 145,536,948 V172A probably benign Het
Other mutations in Pacs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01830:Pacs2 APN 12 113056954 nonsense probably null
IGL02229:Pacs2 APN 12 113056800 splice site probably benign
IGL02307:Pacs2 APN 12 113070773 missense probably damaging 1.00
IGL02700:Pacs2 APN 12 113061710 missense probably damaging 1.00
R0241:Pacs2 UTSW 12 113069270 splice site probably benign
R0433:Pacs2 UTSW 12 113056844 missense possibly damaging 0.77
R0512:Pacs2 UTSW 12 113050927 missense probably damaging 0.99
R0761:Pacs2 UTSW 12 113060068 splice site probably benign
R2017:Pacs2 UTSW 12 113062457 missense probably damaging 1.00
R2070:Pacs2 UTSW 12 113061111 missense probably damaging 1.00
R2162:Pacs2 UTSW 12 113050947 missense probably benign
R2231:Pacs2 UTSW 12 113063367 missense probably damaging 1.00
R2232:Pacs2 UTSW 12 113063367 missense probably damaging 1.00
R2396:Pacs2 UTSW 12 113063367 missense probably damaging 1.00
R2397:Pacs2 UTSW 12 113063367 missense probably damaging 1.00
R3010:Pacs2 UTSW 12 113061080 missense probably benign
R3403:Pacs2 UTSW 12 113050950 missense probably damaging 1.00
R3950:Pacs2 UTSW 12 113061113 missense probably damaging 1.00
R3952:Pacs2 UTSW 12 113061113 missense probably damaging 1.00
R4518:Pacs2 UTSW 12 113060669 missense probably benign 0.31
R5673:Pacs2 UTSW 12 113068998 missense probably damaging 1.00
R5693:Pacs2 UTSW 12 113049906 missense probably damaging 1.00
R7212:Pacs2 UTSW 12 113061692 missense possibly damaging 0.77
Posted On2014-02-04