Incidental Mutation 'R6985:Arrdc3'
ID542927
Institutional Source Beutler Lab
Gene Symbol Arrdc3
Ensembl Gene ENSMUSG00000074794
Gene Namearrestin domain containing 3
SynonymsmKIAA1376; AI450344
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.418) question?
Stock #R6985 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location80883384-80896042 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80883657 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 3 (L3P)
Ref Sequence ENSEMBL: ENSMUSP00000124418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099356] [ENSMUST00000159690] [ENSMUST00000161441]
Predicted Effect probably damaging
Transcript: ENSMUST00000099356
AA Change: L3P

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096957
Gene: ENSMUSG00000074794
AA Change: L3P

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 probably damaging
Transcript: ENSMUST00000159690
AA Change: L3P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000124418
Gene: ENSMUSG00000074794
AA Change: L3P

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 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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.4%
Validation Efficiency 100% (66/66)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akirin1 A G 4: 123,736,856 *192R probably null Het
Ankar A C 1: 72,658,482 L836R probably damaging Het
Anxa7 G T 14: 20,471,568 A20E unknown Het
Arhgap1 T A 2: 91,668,198 Y147N probably damaging Het
Arid2 T C 15: 96,370,148 V714A probably benign Het
Bhmt2 T C 13: 93,663,322 D202G possibly damaging Het
Bub1b A G 2: 118,606,614 R98G probably damaging Het
Capn10 T C 1: 92,943,424 Y319H probably damaging Het
Cep95 T C 11: 106,818,703 F115S probably damaging Het
Chsy3 A T 18: 59,176,488 probably null Het
Cnot1 T C 8: 95,734,129 N1755S probably benign Het
Cntn4 A G 6: 106,679,417 N893S probably benign Het
Ctsh G A 9: 90,054,604 A19T possibly damaging Het
Cttn C A 7: 144,452,587 E214* probably null Het
Des A G 1: 75,366,787 E438G possibly damaging Het
Dnaja4 T C 9: 54,708,395 V109A probably benign Het
Dock1 A G 7: 135,163,403 E1708G possibly damaging Het
Dst T C 1: 34,190,853 I2184T probably benign Het
Enc1 C T 13: 97,245,120 T46I possibly damaging Het
Etaa1 A G 11: 17,946,108 S670P probably damaging Het
Fam168b G A 1: 34,819,708 T131M probably damaging Het
Fbn2 A T 18: 58,068,388 V1319E probably damaging Het
Fcrl1 T A 3: 87,389,650 V302E probably benign Het
Fgfr3 G C 5: 33,735,441 E744Q probably null Het
Gmps T A 3: 64,015,539 I641N probably damaging Het
Gpc2 T A 5: 138,278,408 Y152F probably damaging Het
Herc2 G A 7: 56,106,453 R747H possibly damaging Het
Herc2 A G 7: 56,132,480 D1305G probably damaging Het
Ighv1-37 T C 12: 114,896,632 T14A probably benign Het
Insr T A 8: 3,161,372 M1156L possibly damaging Het
Kirrel2 C A 7: 30,455,306 G127C probably damaging Het
Krt10 T C 11: 99,385,630 N65S possibly damaging Het
Lrig3 A G 10: 126,014,869 I1101M possibly damaging Het
Lrrc55 T G 2: 85,191,930 N306H probably benign Het
Map4k3 A G 17: 80,636,732 S329P probably damaging Het
Mapkap1 T G 2: 34,432,110 H13Q probably damaging Het
Mki67 A G 7: 135,713,865 L60S probably damaging Het
Muc4 A T 16: 32,751,999 M626L probably benign Het
Mycbp2 C T 14: 103,206,681 V1914I possibly damaging Het
Myo5b T C 18: 74,653,361 F442L possibly damaging Het
Naa35 T A 13: 59,627,943 M545K probably benign Het
Nrxn2 T A 19: 6,481,245 V645E probably damaging Het
Olfr313 T C 11: 58,817,113 F35S probably damaging Het
Olfr619 A G 7: 103,603,668 T5A probably benign Het
Otx1 A T 11: 21,996,615 Y231* probably null Het
Pcdhb19 A G 18: 37,497,158 E2G probably benign Het
Pik3c2a G A 7: 116,417,988 T178I probably damaging Het
Plxna4 A G 6: 32,237,708 S613P probably damaging Het
Pon1 T G 6: 5,168,345 D354A probably benign Het
Prtg T G 9: 72,851,501 I379S probably damaging Het
Rbm17 T G 2: 11,590,693 M234L probably benign Het
Rex1bd T C 8: 70,505,905 S71G probably benign Het
Rictor C T 15: 6,772,154 S441L probably benign Het
Samd7 G C 3: 30,751,123 K18N probably benign Het
Shank1 A G 7: 44,344,913 I833V unknown Het
Slc35f1 C A 10: 53,021,911 D139E probably benign Het
Spata31d1a T C 13: 59,703,093 N407S probably benign Het
Spata31d1d T A 13: 59,731,615 I36F probably benign Het
Sstr4 T A 2: 148,396,249 M260K probably damaging Het
Tcrg-V6 G T 13: 19,190,644 G40W possibly damaging Het
Ticam1 C T 17: 56,269,900 E732K probably benign Het
Trat1 A G 16: 48,754,271 Y55H probably damaging Het
Vcan T C 13: 89,679,956 T3124A probably damaging Het
Wdfy4 A T 14: 33,099,117 F1385Y possibly damaging Het
Xrcc3 T C 12: 111,812,096 D7G 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
IGL02006:Arrdc3 APN 13 80883774 missense probably damaging 1.00
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 80891075 missense probably damaging 1.00
R0008:Arrdc3 UTSW 13 80883892 nonsense probably null
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
R7076:Arrdc3 UTSW 13 80890696 missense probably damaging 1.00
R7670:Arrdc3 UTSW 13 80889093 missense probably damaging 1.00
R8342:Arrdc3 UTSW 13 80883671 missense probably benign 0.09
R8981:Arrdc3 UTSW 13 80890550 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTTTGTAAGGAGACCACTGAGACG -3'
(R):5'- GTCCACCGTACTTTCGCATG -3'

Sequencing Primer
(F):5'- GCTGCCCTGACTTTTTAAGAAATC -3'
(R):5'- CATGTCCTCTTGCGTGAATTTTAAG -3'
Posted On2018-11-28