Incidental Mutation 'R6321:Arrdc4'
ID 510344
Institutional Source Beutler Lab
Gene Symbol Arrdc4
Ensembl Gene ENSMUSG00000042659
Gene Name arrestin domain containing 4
Synonyms 2410003C09Rik
MMRRC Submission 044418-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.383) question?
Stock # R6321 (G1)
Quality Score 153.008
Status Validated
Chromosome 7
Chromosomal Location 68386742-68398986 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 68398793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 8 (D8Y)
Ref Sequence ENSEMBL: ENSMUSP00000112962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048068] [ENSMUST00000118110]
AlphaFold A0A0B4J1F4
Predicted Effect probably benign
Transcript: ENSMUST00000048068
AA Change: D8Y

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044578
Gene: ENSMUSG00000042659
AA Change: D8Y

DomainStartEndE-ValueType
Pfam:Arrestin_N 19 166 6.2e-35 PFAM
Arrestin_C 188 315 8.24e-30 SMART
low complexity region 336 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118110
AA Change: D8Y

PolyPhen 2 Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112962
Gene: ENSMUSG00000042659
AA Change: D8Y

DomainStartEndE-ValueType
Pfam:Arrestin_N 17 166 6.6e-35 PFAM
Arrestin_C 188 296 6.46e-14 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.8%
Validation Efficiency 100% (52/52)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele show a marked reduction in the amount of extracellular vesicles (EVs) released from mouse gut explants. Mutant mouse embryonic fibroblasts exhibit reduced EV release. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 G T 13: 111,391,915 (GRCm39) M83I probably damaging Het
Adgra2 T A 8: 27,604,190 (GRCm39) M460K probably benign Het
Aldh16a1 G A 7: 44,799,189 (GRCm39) A31V probably damaging Het
Ank2 T C 3: 126,740,587 (GRCm39) probably benign Het
Auts2 A G 5: 131,494,953 (GRCm39) Y110H probably damaging Het
Blnk A T 19: 40,922,903 (GRCm39) Y405N probably damaging Het
Capsl T C 15: 9,461,855 (GRCm39) F84L probably damaging Het
Cdcp3 T C 7: 130,858,735 (GRCm39) probably null Het
Cenpl T C 1: 160,902,465 (GRCm39) S46P probably benign Het
Chd1l G A 3: 97,494,483 (GRCm39) A399V probably damaging Het
Chrnd C T 1: 87,119,951 (GRCm39) R90C probably damaging Het
Cyfip2 A T 11: 46,182,347 (GRCm39) M37K probably benign Het
Dnah11 T C 12: 118,106,027 (GRCm39) E625G possibly damaging Het
Dnah5 T G 15: 28,372,557 (GRCm39) V2936G probably damaging Het
Dock9 A G 14: 121,783,433 (GRCm39) M2055T probably damaging Het
Epb41l2 A T 10: 25,344,026 (GRCm39) R274S probably damaging Het
Erich3 A T 3: 154,433,139 (GRCm39) H371L probably damaging Het
Evi5l C A 8: 4,253,080 (GRCm39) P454T probably benign Het
Gm10549 C A 18: 33,597,358 (GRCm39) probably benign Het
Gm11595 G A 11: 99,663,381 (GRCm39) R100C unknown Het
Golgb1 T A 16: 36,738,559 (GRCm39) C2299* probably null Het
Heca G C 10: 17,790,991 (GRCm39) probably null Het
Hecw1 C T 13: 14,697,414 (GRCm39) A9T probably benign Het
Hs3st6 T A 17: 24,977,542 (GRCm39) W341R probably damaging Het
Kidins220 C T 12: 25,107,533 (GRCm39) S1571L probably benign Het
Klk1b9 A G 7: 43,443,732 (GRCm39) E82G probably damaging Het
Ltbp3 C A 19: 5,795,685 (GRCm39) H180Q probably benign Het
Mecom A G 3: 30,034,741 (GRCm39) Y502H probably damaging Het
Mfsd2a A G 4: 122,843,165 (GRCm39) V372A probably benign Het
Mrgprd A G 7: 144,875,879 (GRCm39) D250G probably benign Het
Muc2 A G 7: 141,287,397 (GRCm39) D191G probably benign Het
Myl10 G C 5: 136,726,825 (GRCm39) V70L probably benign Het
Naip6 C A 13: 100,436,909 (GRCm39) S538I probably benign Het
Or4f59 A G 2: 111,873,113 (GRCm39) V88A probably benign Het
Or52w1 A G 7: 105,018,109 (GRCm39) Y192C probably damaging Het
Pnpla6 T C 8: 3,594,015 (GRCm39) V1342A probably benign Het
Ppp1r9a A G 6: 5,115,151 (GRCm39) E789G probably damaging Het
Prkdc A G 16: 15,532,783 (GRCm39) T1471A probably benign Het
Scarb1 T A 5: 125,381,395 (GRCm39) S50C probably damaging Het
Slc4a8 C T 15: 100,687,045 (GRCm39) T283M probably damaging Het
Smc2 C A 4: 52,462,814 (GRCm39) D601E probably benign Het
Snx6 C A 12: 54,798,798 (GRCm39) V221F probably damaging Het
Spag17 A C 3: 99,995,743 (GRCm39) K1794T probably benign Het
Tpo A G 12: 30,153,107 (GRCm39) W416R probably damaging Het
Ttc13 C A 8: 125,409,930 (GRCm39) K427N probably damaging Het
Upf3a A T 8: 13,837,466 (GRCm39) N137I possibly damaging Het
Ush2a C T 1: 188,581,243 (GRCm39) Q3708* probably null Het
Zbtb17 G A 4: 141,190,694 (GRCm39) G171S probably benign Het
Zfp451 A G 1: 33,852,816 (GRCm39) F33L probably damaging Het
Zfp454 A G 11: 50,763,876 (GRCm39) F408L probably damaging Het
Zfp639 T C 3: 32,571,237 (GRCm39) Y40H probably damaging Het
Other mutations in Arrdc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Arrdc4 APN 7 68,394,580 (GRCm39) nonsense probably null
IGL02164:Arrdc4 APN 7 68,389,285 (GRCm39) unclassified probably benign
IGL03009:Arrdc4 APN 7 68,389,241 (GRCm39) missense probably damaging 1.00
R0454:Arrdc4 UTSW 7 68,391,619 (GRCm39) missense probably damaging 1.00
R1146:Arrdc4 UTSW 7 68,389,756 (GRCm39) missense probably damaging 0.99
R1146:Arrdc4 UTSW 7 68,389,756 (GRCm39) missense probably damaging 0.99
R1588:Arrdc4 UTSW 7 68,391,484 (GRCm39) missense possibly damaging 0.95
R1764:Arrdc4 UTSW 7 68,391,622 (GRCm39) missense probably damaging 1.00
R1956:Arrdc4 UTSW 7 68,391,547 (GRCm39) missense probably benign 0.16
R4717:Arrdc4 UTSW 7 68,391,406 (GRCm39) missense probably damaging 0.98
R6784:Arrdc4 UTSW 7 68,398,594 (GRCm39) missense probably benign 0.00
R7329:Arrdc4 UTSW 7 68,390,775 (GRCm39) missense probably damaging 1.00
R7689:Arrdc4 UTSW 7 68,391,623 (GRCm39) missense probably damaging 1.00
R7909:Arrdc4 UTSW 7 68,394,924 (GRCm39) missense probably benign 0.30
R7911:Arrdc4 UTSW 7 68,394,924 (GRCm39) missense probably benign 0.30
R7970:Arrdc4 UTSW 7 68,390,820 (GRCm39) missense probably damaging 1.00
R9356:Arrdc4 UTSW 7 68,394,627 (GRCm39) missense possibly damaging 0.55
R9623:Arrdc4 UTSW 7 68,390,741 (GRCm39) missense
Predicted Primers PCR Primer
(F):5'- ATTCCACTTCTGAGGAGGCTG -3'
(R):5'- TTAAAGAGACAGGGCCCCAGTG -3'

Sequencing Primer
(F):5'- CACCGATGCAGACCCTG -3'
(R):5'- CCAGTGCGGGTGTTTCAC -3'
Posted On 2018-04-02