Incidental Mutation 'IGL02700:Pacs2'
ID 304096
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pacs2
Ensembl Gene ENSMUSG00000021143
Gene Name phosphofurin acidic cluster sorting protein 2
Synonyms 6720425G15Rik, Pacs1l
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02700
Quality Score
Status
Chromosome 12
Chromosomal Location 112978128-113038021 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113025330 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 494 (I494N)
Ref Sequence ENSEMBL: ENSMUSP00000152439 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084891] [ENSMUST00000220541] [ENSMUST00000223502]
AlphaFold Q3V3Q7
Predicted Effect probably damaging
Transcript: ENSMUST00000084891
AA Change: I492N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081953
Gene: ENSMUSG00000021143
AA Change: I492N

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 noncoding transcript
Transcript: ENSMUST00000197963
Predicted Effect probably damaging
Transcript: ENSMUST00000220541
AA Change: I462N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220715
Predicted Effect probably damaging
Transcript: ENSMUST00000223502
AA Change: I494N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik C A 8: 122,262,161 (GRCm39) probably null Het
Acacb A G 5: 114,356,942 (GRCm39) Y1291C probably damaging Het
Agtpbp1 C T 13: 59,676,233 (GRCm39) C179Y probably damaging Het
Capn15 T C 17: 26,181,982 (GRCm39) D609G probably damaging Het
Cnnm3 T A 1: 36,552,189 (GRCm39) F400I probably damaging Het
Dst A C 1: 34,301,201 (GRCm39) E1189A probably damaging Het
Gcnt1 G A 19: 17,306,780 (GRCm39) T315I probably damaging Het
H2-M1 T C 17: 36,982,161 (GRCm39) I147V possibly damaging Het
Hk1 T C 10: 62,120,590 (GRCm39) N536D probably damaging Het
Klhl5 C T 5: 65,288,773 (GRCm39) Q12* probably null Het
Lgals12 C T 19: 7,575,455 (GRCm39) A294T probably benign Het
Mideas T C 12: 84,199,636 (GRCm39) N1028S probably benign Het
Mki67 G T 7: 135,309,931 (GRCm39) S173R probably benign Het
Nedd4l C T 18: 65,342,751 (GRCm39) R755C probably damaging Het
Obox5 A G 7: 15,492,888 (GRCm39) D281G possibly damaging Het
Or4f6 T C 2: 111,839,036 (GRCm39) D165G probably benign Het
Pax5 G T 4: 44,682,722 (GRCm39) T141K probably damaging Het
Phf21b T C 15: 84,687,662 (GRCm39) N230S probably benign Het
Rab3gap1 G T 1: 127,866,342 (GRCm39) A841S probably benign Het
Siglecf T C 7: 43,001,802 (GRCm39) L204P probably damaging Het
Slc39a10 G A 1: 46,857,288 (GRCm39) A696V probably damaging Het
Snca G A 6: 60,804,521 (GRCm39) T22I possibly damaging Het
Syvn1 A G 19: 6,097,973 (GRCm39) T4A probably benign Het
Usp36 T C 11: 118,166,983 (GRCm39) N298S possibly damaging Het
Usp42 A T 5: 143,702,883 (GRCm39) S579R probably benign Het
Vezf1 T C 11: 87,964,129 (GRCm39) S94P probably damaging Het
Other mutations in Pacs2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01774:Pacs2 APN 12 113,020,462 (GRCm39) missense probably benign 0.01
IGL01830:Pacs2 APN 12 113,020,574 (GRCm39) nonsense probably null
IGL02229:Pacs2 APN 12 113,020,420 (GRCm39) splice site probably benign
IGL02307:Pacs2 APN 12 113,034,393 (GRCm39) missense probably damaging 1.00
BB003:Pacs2 UTSW 12 113,024,372 (GRCm39) missense probably damaging 1.00
BB013:Pacs2 UTSW 12 113,024,372 (GRCm39) missense probably damaging 1.00
R0241:Pacs2 UTSW 12 113,032,890 (GRCm39) splice site probably benign
R0433:Pacs2 UTSW 12 113,020,464 (GRCm39) missense possibly damaging 0.77
R0512:Pacs2 UTSW 12 113,014,547 (GRCm39) missense probably damaging 0.99
R0761:Pacs2 UTSW 12 113,023,688 (GRCm39) splice site probably benign
R2017:Pacs2 UTSW 12 113,026,077 (GRCm39) missense probably damaging 1.00
R2070:Pacs2 UTSW 12 113,024,731 (GRCm39) missense probably damaging 1.00
R2162:Pacs2 UTSW 12 113,014,567 (GRCm39) missense probably benign
R2231:Pacs2 UTSW 12 113,026,987 (GRCm39) missense probably damaging 1.00
R2232:Pacs2 UTSW 12 113,026,987 (GRCm39) missense probably damaging 1.00
R2396:Pacs2 UTSW 12 113,026,987 (GRCm39) missense probably damaging 1.00
R2397:Pacs2 UTSW 12 113,026,987 (GRCm39) missense probably damaging 1.00
R3010:Pacs2 UTSW 12 113,024,700 (GRCm39) missense probably benign
R3403:Pacs2 UTSW 12 113,014,570 (GRCm39) missense probably damaging 1.00
R3950:Pacs2 UTSW 12 113,024,733 (GRCm39) missense probably damaging 1.00
R3952:Pacs2 UTSW 12 113,024,733 (GRCm39) missense probably damaging 1.00
R4518:Pacs2 UTSW 12 113,024,289 (GRCm39) missense probably benign 0.31
R5673:Pacs2 UTSW 12 113,032,618 (GRCm39) missense probably damaging 1.00
R5693:Pacs2 UTSW 12 113,013,526 (GRCm39) missense probably damaging 1.00
R7212:Pacs2 UTSW 12 113,025,312 (GRCm39) missense possibly damaging 0.77
R7926:Pacs2 UTSW 12 113,024,372 (GRCm39) missense probably damaging 1.00
R8032:Pacs2 UTSW 12 113,025,278 (GRCm39) missense probably damaging 1.00
R8224:Pacs2 UTSW 12 113,023,380 (GRCm39) missense probably damaging 1.00
R8944:Pacs2 UTSW 12 113,020,476 (GRCm39) missense probably damaging 1.00
R9036:Pacs2 UTSW 12 113,026,104 (GRCm39) missense possibly damaging 0.93
R9253:Pacs2 UTSW 12 113,014,137 (GRCm39) missense probably benign 0.00
R9461:Pacs2 UTSW 12 113,010,727 (GRCm39) missense probably benign 0.36
Z1177:Pacs2 UTSW 12 113,034,350 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16