Incidental Mutation 'R7970:Arrdc4'
ID650556
Institutional Source Beutler Lab
Gene Symbol Arrdc4
Ensembl Gene ENSMUSG00000042659
Gene Namearrestin domain containing 4
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.202) question?
Stock #R7970 (G1)
Quality Score225.009
Status Validated
Chromosome7
Chromosomal Location68736995-68749241 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 68741072 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 307 (P307S)
Ref Sequence ENSEMBL: ENSMUSP00000044578 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048068] [ENSMUST00000118110]
Predicted Effect probably damaging
Transcript: ENSMUST00000048068
AA Change: P307S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044578
Gene: ENSMUSG00000042659
AA Change: P307S

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
SMART Domains Protein: ENSMUSP00000112962
Gene: ENSMUSG00000042659

DomainStartEndE-ValueType
Pfam:Arrestin_N 17 166 6.6e-35 PFAM
Arrestin_C 188 296 6.46e-14 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (57/57)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik A G 13: 63,033,160 N312S probably benign Het
Acnat1 A G 4: 49,449,266 F167L probably damaging Het
Acsbg2 A G 17: 56,849,728 Y437H probably benign Het
Amotl2 C T 9: 102,723,769 T345I probably benign Het
Anapc2 T C 2: 25,273,287 S179P possibly damaging Het
Arhgef1 G A 7: 24,916,881 D317N probably damaging Het
B3gnt2 T C 11: 22,836,255 Y311C probably damaging Het
Brf1 T C 12: 112,964,200 D453G probably damaging Het
Clpsl2 G A 17: 28,550,728 G55R probably damaging Het
Dao AGG AG 5: 114,015,209 probably benign Het
Dst G T 1: 34,182,747 C2544F possibly damaging Het
Efhc1 C T 1: 20,951,795 T21M probably benign Het
Efs A G 14: 54,920,503 probably null Het
Evl C T 12: 108,681,524 R295* probably null Het
Fam171a2 A T 11: 102,437,866 V689E possibly damaging Het
Fam184a T C 10: 53,699,325 T63A probably damaging Het
Fam186a T C 15: 99,933,586 D2897G unknown Het
Fbxw11 T G 11: 32,722,101 S224A probably benign Het
Flnc G T 6: 29,447,526 E1109D possibly damaging Het
Foxn4 A G 5: 114,263,007 probably null Het
Gm19410 A G 8: 35,815,647 E2009G probably benign Het
Gm9958 A G 5: 90,367,709 probably benign Het
Gprin3 C T 6: 59,353,165 R719Q possibly damaging Het
Grip2 A T 6: 91,786,532 I147N probably benign Het
H2-DMb2 A G 17: 34,150,598 R239G probably benign Het
Hydin A C 8: 110,309,091 D138A probably damaging Het
Ikbkap A T 4: 56,771,466 Y944N probably damaging Het
Kctd17 CAGCTGGAGGAGC CAGC 15: 78,436,913 probably benign Het
Lgr6 A G 1: 134,993,985 I484T probably benign Het
Mkrn2 T A 6: 115,617,308 C327S probably damaging Het
Mnt C T 11: 74,842,210 A288V probably damaging Het
Nckap5 T A 1: 126,025,021 K1265* probably null Het
Ncoa3 A T 2: 166,051,357 H194L probably benign Het
Ogn A T 13: 49,609,266 H28L probably benign Het
Olfr1160 A T 2: 88,005,825 F309I probably benign Het
Olfr1453 T A 19: 13,027,694 I212F probably damaging Het
Olfr680-ps1 C A 7: 105,091,349 V97L probably benign Het
Pclo T C 5: 14,714,478 S1037P Het
Phlpp1 T A 1: 106,173,285 Y428N probably damaging Het
Ptpre A G 7: 135,678,319 T591A possibly damaging Het
Rtn1 A T 12: 72,308,874 D99E probably benign Het
Scn7a A T 2: 66,675,829 I1572N probably damaging Het
Sema3a T A 5: 13,599,407 M708K possibly damaging Het
Slc12a4 G A 8: 105,951,605 R319W possibly damaging Het
Slc9a2 T C 1: 40,726,214 Y255H probably damaging Het
Spock3 T C 8: 63,345,715 F254L probably damaging Het
St6gal1 G A 16: 23,357,835 A393T probably benign Het
St6galnac2 T C 11: 116,690,343 D51G probably benign Het
Stard13 T A 5: 151,063,261 K261N possibly damaging Het
Tlk1 T C 2: 70,752,300 R162G possibly damaging Het
Tlr2 T C 3: 83,837,894 D294G probably benign Het
Tnks A G 8: 34,855,926 probably null Het
Trip4 A G 9: 65,839,016 S533P probably damaging Het
Ttc3 T A 16: 94,457,364 W1674R probably damaging Het
Vmn2r114 T C 17: 23,311,212 N74D probably benign Het
Zcchc11 G A 4: 108,486,454 S221N probably benign Het
Zdbf2 T C 1: 63,304,171 Y570H possibly damaging Het
Other mutations in Arrdc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01637:Arrdc4 APN 7 68744832 nonsense probably null
IGL02164:Arrdc4 APN 7 68739537 unclassified probably benign
IGL03009:Arrdc4 APN 7 68739493 missense probably damaging 1.00
R0454:Arrdc4 UTSW 7 68741871 missense probably damaging 1.00
R1146:Arrdc4 UTSW 7 68740008 missense probably damaging 0.99
R1146:Arrdc4 UTSW 7 68740008 missense probably damaging 0.99
R1588:Arrdc4 UTSW 7 68741736 missense possibly damaging 0.95
R1764:Arrdc4 UTSW 7 68741874 missense probably damaging 1.00
R1956:Arrdc4 UTSW 7 68741799 missense probably benign 0.16
R4717:Arrdc4 UTSW 7 68741658 missense probably damaging 0.98
R6321:Arrdc4 UTSW 7 68749045 missense probably benign 0.21
R6784:Arrdc4 UTSW 7 68748846 missense probably benign 0.00
R7329:Arrdc4 UTSW 7 68741027 missense probably damaging 1.00
R7689:Arrdc4 UTSW 7 68741875 missense probably damaging 1.00
R7909:Arrdc4 UTSW 7 68745176 missense probably benign 0.30
R7911:Arrdc4 UTSW 7 68745176 missense probably benign 0.30
Predicted Primers PCR Primer
(F):5'- GAGAGCTGACACGTGTACAC -3'
(R):5'- ACATTTGTCCTCAAGGTGGC -3'

Sequencing Primer
(F):5'- GACACGTGTACACCTACTCCTGG -3'
(R):5'- TGGCTTGGTGGGATACAAAG -3'
Posted On2020-09-15