Incidental Mutation 'R1404:Arrdc3'
ID 188668
Institutional Source Beutler Lab
Gene Symbol Arrdc3
Ensembl Gene ENSMUSG00000074794
Gene Name arrestin domain containing 3
Synonyms
MMRRC Submission 039466-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.509) question?
Stock # R1404 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 81031508-81044161 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 81031973 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 69 (T69A)
Ref Sequence ENSEMBL: ENSMUSP00000096957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099356] [ENSMUST00000159690] [ENSMUST00000161441]
AlphaFold Q7TPQ9
Predicted Effect probably damaging
Transcript: ENSMUST00000099356
AA Change: T69A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000096957
Gene: ENSMUSG00000074794
AA Change: T69A

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: T69A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124418
Gene: ENSMUSG00000074794
AA Change: T69A

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
Meta Mutation Damage Score 0.1992 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency 100% (28/28)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,059,253 (GRCm39) probably benign Het
Actl6a T C 3: 32,776,759 (GRCm39) probably benign Het
Aoc1l1 A T 6: 48,952,767 (GRCm39) T231S probably benign Het
Aox1 T C 1: 58,385,371 (GRCm39) probably benign Het
Bbs2 T C 8: 94,808,627 (GRCm39) K360R probably null Het
Cdh8 A T 8: 100,006,250 (GRCm39) N112K probably damaging Het
Ces5a A T 8: 94,228,809 (GRCm39) F474I probably damaging Het
Dync1i1 G A 6: 5,915,876 (GRCm39) D253N probably damaging Het
Fam151b T C 13: 92,610,480 (GRCm39) D103G probably damaging Het
Fam227b A G 2: 125,845,759 (GRCm39) L410P probably damaging Het
Ihh A T 1: 74,990,372 (GRCm39) M1K probably null Het
Itga6 A G 2: 71,669,060 (GRCm39) T617A probably benign Het
Itpr1 T A 6: 108,363,609 (GRCm39) C744S probably benign Het
Kif5a T C 10: 127,081,311 (GRCm39) I208V probably benign Het
Lama4 A G 10: 38,937,387 (GRCm39) K659R probably benign Het
Lpin3 T A 2: 160,734,310 (GRCm39) probably null Het
Macf1 T A 4: 123,270,309 (GRCm39) E6612V probably damaging Het
Naip2 T C 13: 100,298,362 (GRCm39) E558G probably benign Het
Ncdn T C 4: 126,643,833 (GRCm39) K330E probably benign Het
Neb C T 2: 52,073,287 (GRCm39) D1975N possibly damaging Het
Nell1 T A 7: 50,503,621 (GRCm39) N675K possibly damaging Het
Nlrp6 GAGAAGAAGAAGAAGAAGAAGA GAGAAGAAGAAGAAGAAGA 7: 140,504,026 (GRCm39) probably benign Het
Or4f47 G A 2: 111,972,968 (GRCm39) R226H probably benign Het
Rnf43 A G 11: 87,625,003 (GRCm39) E737G possibly damaging Het
Sardh C A 2: 27,129,473 (GRCm39) W275L probably damaging Het
Sel1l2 C T 2: 140,071,979 (GRCm39) probably benign Het
Sipa1l2 G A 8: 126,176,712 (GRCm39) H1185Y probably damaging Het
Skp2 G A 15: 9,117,012 (GRCm39) Q298* probably null Het
Spag16 G A 1: 69,934,439 (GRCm39) probably benign Het
Spink14 A G 18: 44,161,896 (GRCm39) probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Stx12 T A 4: 132,598,960 (GRCm39) I43L probably benign Het
Tmc1 T A 19: 20,793,548 (GRCm39) I538F possibly damaging Het
Tollip T C 7: 141,438,292 (GRCm39) M209V probably benign Het
Ttn A T 2: 76,643,312 (GRCm39) S13202R probably damaging Het
Vmn2r60 T A 7: 41,786,211 (GRCm39) V338D probably damaging Het
Vwa8 T C 14: 79,263,471 (GRCm39) L767P probably damaging Het
Zfp202 C T 9: 40,122,792 (GRCm39) T518I probably damaging Het
Other mutations in Arrdc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00272:Arrdc3 APN 13 81,038,691 (GRCm39) missense probably damaging 1.00
IGL00933:Arrdc3 APN 13 81,039,174 (GRCm39) splice site probably benign
IGL02006:Arrdc3 APN 13 81,031,893 (GRCm39) missense probably damaging 1.00
IGL02009:Arrdc3 APN 13 81,041,499 (GRCm39) missense probably benign 0.20
IGL02272:Arrdc3 APN 13 81,039,769 (GRCm39) splice site probably benign
IGL02634:Arrdc3 APN 13 81,038,884 (GRCm39) missense probably damaging 1.00
IGL03337:Arrdc3 APN 13 81,038,766 (GRCm39) missense probably benign 0.01
R0008:Arrdc3 UTSW 13 81,039,194 (GRCm39) missense probably damaging 1.00
R0008:Arrdc3 UTSW 13 81,039,194 (GRCm39) missense probably damaging 1.00
R0008:Arrdc3 UTSW 13 81,032,011 (GRCm39) nonsense probably null
R0838:Arrdc3 UTSW 13 81,037,366 (GRCm39) splice site probably benign
R0843:Arrdc3 UTSW 13 81,038,922 (GRCm39) splice site probably benign
R1211:Arrdc3 UTSW 13 81,038,817 (GRCm39) missense possibly damaging 0.76
R1404:Arrdc3 UTSW 13 81,031,973 (GRCm39) missense probably damaging 1.00
R1992:Arrdc3 UTSW 13 81,031,808 (GRCm39) missense probably damaging 1.00
R4446:Arrdc3 UTSW 13 81,037,182 (GRCm39) intron probably benign
R4540:Arrdc3 UTSW 13 81,038,790 (GRCm39) missense possibly damaging 0.95
R4718:Arrdc3 UTSW 13 81,031,986 (GRCm39) missense possibly damaging 0.48
R5138:Arrdc3 UTSW 13 81,039,184 (GRCm39) missense probably damaging 1.00
R5814:Arrdc3 UTSW 13 81,038,698 (GRCm39) missense possibly damaging 0.92
R6514:Arrdc3 UTSW 13 81,037,309 (GRCm39) missense probably damaging 1.00
R6899:Arrdc3 UTSW 13 81,037,330 (GRCm39) missense probably damaging 0.99
R6985:Arrdc3 UTSW 13 81,031,776 (GRCm39) missense probably damaging 0.99
R7076:Arrdc3 UTSW 13 81,038,815 (GRCm39) missense probably damaging 1.00
R7670:Arrdc3 UTSW 13 81,037,212 (GRCm39) missense probably damaging 1.00
R8342:Arrdc3 UTSW 13 81,031,790 (GRCm39) missense probably benign 0.09
R8981:Arrdc3 UTSW 13 81,038,669 (GRCm39) missense probably damaging 1.00
R9163:Arrdc3 UTSW 13 81,041,506 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTCTTGCACGGCAAAGACACCC -3'
(R):5'- ACGCCTGCATGGATTAAGGCTTAAC -3'

Sequencing Primer
(F):5'- CACCCATCAGTGTTAAGTGAAG -3'
(R):5'- GGCTTAACACGCTTGAACGTC -3'
Posted On 2014-05-09