Incidental Mutation 'IGL02006:Arrdc3'
ID183205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arrdc3
Ensembl Gene ENSMUSG00000074794
Gene Namearrestin domain containing 3
SynonymsmKIAA1376; AI450344
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.409) question?
Stock #IGL02006
Quality Score
Status
Chromosome13
Chromosomal Location80883384-80896042 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80883774 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 42 (I42N)
Ref Sequence ENSEMBL: ENSMUSP00000096957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099356] [ENSMUST00000159690] [ENSMUST00000161441]
Predicted Effect probably damaging
Transcript: ENSMUST00000099356
AA Change: I42N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096957
Gene: ENSMUSG00000074794
AA Change: I42N

DomainStartEndE-ValueType
Pfam:Arrestin_N 9 165 3.4e-35 PFAM
Arrestin_C 187 314 1.25e-29 SMART
low complexity region 319 331 N/A INTRINSIC
low complexity region 335 347 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159090
Predicted Effect probably damaging
Transcript: ENSMUST00000159690
AA Change: I42N

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124418
Gene: ENSMUSG00000074794
AA Change: I42N

DomainStartEndE-ValueType
Pfam:Arrestin_N 9 165 3.5e-38 PFAM
Arrestin_C 187 314 1.25e-29 SMART
low complexity region 319 331 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161006
Predicted Effect probably benign
Transcript: ENSMUST00000161441
SMART Domains Protein: ENSMUSP00000125455
Gene: ENSMUSG00000074794

DomainStartEndE-ValueType
Pfam:Arrestin_C 4 94 2e-10 PFAM
low complexity region 99 111 N/A INTRINSIC
low complexity region 115 127 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 member of the arrestin family of proteins, which regulate G protein-mediated signaling. The encoded protein is thought to act as a regulator of breast cancer growth and progression by binding to a phosphorylated form of integrin beta4, a tumor-related antigen, targeting the integrin for internalization and degradation. [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit resistance to age-related obesity, insulin resistance, and hepatic steatosis. Mice homozygous for a different gene trap allele exhibit resistance to obesity, embryonic lethality when dams are fed a standard chow and dandruff due to very thin skin. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 G A 4: 86,199,345 G182S probably damaging Het
Akr1b7 A T 6: 34,415,450 N66I probably benign Het
Atp6v0d2 G T 4: 19,878,325 A316E probably damaging Het
Atp8a2 A G 14: 59,857,048 V847A possibly damaging Het
Ccdc171 A G 4: 83,795,242 N1173D possibly damaging Het
Crb2 A C 2: 37,786,463 D152A probably damaging Het
Ecm1 T C 3: 95,734,244 E559G probably damaging Het
Ephb1 A G 9: 102,194,772 probably null Het
Fndc11 C A 2: 181,222,091 R230S probably damaging Het
Frem1 A G 4: 82,992,800 probably null Het
Fyco1 G A 9: 123,829,831 Q427* probably null Het
Gm17541 A G 12: 4,689,619 probably benign Het
Gm5431 C T 11: 48,888,503 V809M probably damaging Het
Gm7293 A G 9: 51,622,743 noncoding transcript Het
Ift52 T C 2: 163,023,369 S47P probably benign Het
Iqcf6 A G 9: 106,627,311 D58G probably benign Het
Itm2b T C 14: 73,363,048 probably benign Het
Jakmip1 T C 5: 37,120,987 I536T probably damaging Het
Kcnh1 T G 1: 192,191,015 M3R possibly damaging Het
Kcnh5 G T 12: 74,897,548 P976T probably damaging Het
Layn G A 9: 51,057,291 probably benign Het
Lrrc37a T A 11: 103,456,491 Q3126L probably damaging Het
Meioc A T 11: 102,674,266 D180V probably damaging Het
Myo15 T A 11: 60,511,128 C3066S probably damaging Het
Nbeal1 T C 1: 60,272,259 probably null Het
Negr1 T C 3: 157,016,173 probably benign Het
Nek1 T A 8: 61,104,192 N940K probably benign Het
Nfkbib A T 7: 28,766,242 probably null Het
Nol4 T A 18: 22,921,918 T152S probably damaging Het
Oas3 G T 5: 120,769,235 R446S probably benign Het
Olfr225 T C 11: 59,613,159 L65P probably damaging Het
Olfr457 A G 6: 42,472,091 V29A probably benign Het
Oosp3 C T 19: 11,699,420 L48F probably damaging Het
Pik3ap1 C A 19: 41,302,593 W500L probably benign Het
Ppih A G 4: 119,311,582 probably benign Het
Slc7a15 T C 12: 8,535,508 probably null Het
Srl T C 16: 4,497,286 E164G probably benign Het
Tbx10 C A 19: 3,998,186 T237K probably damaging Het
Trove2 G T 1: 143,760,346 probably benign Het
Vwa5b2 T C 16: 20,597,093 V392A probably damaging Het
Wfdc5 A T 2: 164,182,563 probably benign Het
Xirp2 T C 2: 67,511,962 F1516L possibly damaging Het
Znfx1 A G 2: 167,055,763 C414R probably damaging Het
Other mutations in Arrdc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Arrdc3 APN 13 80890572 missense probably damaging 1.00
IGL00933:Arrdc3 APN 13 80891055 splice site probably benign
IGL02009:Arrdc3 APN 13 80893380 missense probably benign 0.20
IGL02272:Arrdc3 APN 13 80891650 splice site probably benign
IGL02634:Arrdc3 APN 13 80890765 missense probably damaging 1.00
IGL03337:Arrdc3 APN 13 80890647 missense probably benign 0.01
R0008:Arrdc3 UTSW 13 80883892 nonsense probably null
R0008:Arrdc3 UTSW 13 80891075 missense probably damaging 1.00
R0008:Arrdc3 UTSW 13 80891075 missense probably damaging 1.00
R0838:Arrdc3 UTSW 13 80889247 splice site probably benign
R0843:Arrdc3 UTSW 13 80890803 splice site probably benign
R1211:Arrdc3 UTSW 13 80890698 missense possibly damaging 0.76
R1404:Arrdc3 UTSW 13 80883854 missense probably damaging 1.00
R1404:Arrdc3 UTSW 13 80883854 missense probably damaging 1.00
R1992:Arrdc3 UTSW 13 80883689 missense probably damaging 1.00
R4446:Arrdc3 UTSW 13 80889063 intron probably benign
R4540:Arrdc3 UTSW 13 80890671 missense possibly damaging 0.95
R4718:Arrdc3 UTSW 13 80883867 missense possibly damaging 0.48
R5138:Arrdc3 UTSW 13 80891065 missense probably damaging 1.00
R5814:Arrdc3 UTSW 13 80890579 missense possibly damaging 0.92
R6514:Arrdc3 UTSW 13 80889190 missense probably damaging 1.00
R6899:Arrdc3 UTSW 13 80889211 missense probably damaging 0.99
R6985:Arrdc3 UTSW 13 80883657 missense probably damaging 0.99
R7076:Arrdc3 UTSW 13 80890696 missense probably damaging 1.00
R7670:Arrdc3 UTSW 13 80889093 missense probably damaging 1.00
Posted On2014-05-07