Incidental Mutation 'R8035:Arrdc2'
ID 618191
Institutional Source Beutler Lab
Gene Symbol Arrdc2
Ensembl Gene ENSMUSG00000002910
Gene Name arrestin domain containing 2
Synonyms 4632416I05Rik
MMRRC Submission 067472-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8035 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 71287773-71292364 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71292026 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 7 (K7R)
Ref Sequence ENSEMBL: ENSMUSP00000002989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002989] [ENSMUST00000110078] [ENSMUST00000110081] [ENSMUST00000212086] [ENSMUST00000212243] [ENSMUST00000212405] [ENSMUST00000212509] [ENSMUST00000212611]
AlphaFold Q9D668
Predicted Effect probably benign
Transcript: ENSMUST00000002989
AA Change: K7R

PolyPhen 2 Score 0.185 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000002989
Gene: ENSMUSG00000002910
AA Change: K7R

DomainStartEndE-ValueType
Pfam:Arrestin_N 9 158 2.9e-43 PFAM
Arrestin_C 180 307 2.14e-28 SMART
low complexity region 311 322 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110078
SMART Domains Protein: ENSMUSP00000105705
Gene: ENSMUSG00000002908

DomainStartEndE-ValueType
low complexity region 63 76 N/A INTRINSIC
Pfam:SK_channel 90 208 3.7e-59 PFAM
low complexity region 234 245 N/A INTRINSIC
Pfam:Ion_trans_2 275 369 9.6e-16 PFAM
CaMBD 382 461 1.99e-46 SMART
low complexity region 467 487 N/A INTRINSIC
low complexity region 507 516 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110081
SMART Domains Protein: ENSMUSP00000105708
Gene: ENSMUSG00000002908

DomainStartEndE-ValueType
low complexity region 63 76 N/A INTRINSIC
Pfam:SK_channel 90 203 4.9e-51 PFAM
low complexity region 234 245 N/A INTRINSIC
Pfam:Ion_trans_2 274 368 1.7e-15 PFAM
CaMBD 382 462 3.71e-46 SMART
low complexity region 468 488 N/A INTRINSIC
low complexity region 508 517 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212086
Predicted Effect probably benign
Transcript: ENSMUST00000212243
Predicted Effect probably benign
Transcript: ENSMUST00000212405
Predicted Effect probably benign
Transcript: ENSMUST00000212509
Predicted Effect probably benign
Transcript: ENSMUST00000212611
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (55/55)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,530,243 (GRCm39) V938A probably damaging Het
Acot7 A G 4: 152,337,611 (GRCm39) T254A possibly damaging Het
Ankle2 C T 5: 110,402,318 (GRCm39) R943C probably damaging Het
Arsi T A 18: 61,049,442 (GRCm39) H108Q probably damaging Het
Asap3 T C 4: 135,968,514 (GRCm39) Y689H probably benign Het
Bnip3 G A 7: 138,493,666 (GRCm39) T181I probably damaging Het
C87436 T C 6: 86,424,337 (GRCm39) S290P probably benign Het
Ccdc168 A G 1: 44,100,711 (GRCm39) V129A possibly damaging Het
Ccdc6 A G 10: 69,933,331 (GRCm39) I68V probably benign Het
Ccr3 T C 9: 123,829,012 (GRCm39) F116L probably benign Het
Cdh9 G T 15: 16,831,152 (GRCm39) V330F probably damaging Het
Cdkn1a T C 17: 29,318,350 (GRCm39) C155R possibly damaging Het
Ctr9 C T 7: 110,633,664 (GRCm39) A165V probably damaging Het
Cyp2b19 G A 7: 26,470,675 (GRCm39) G439R probably damaging Het
Fam161b A T 12: 84,395,430 (GRCm39) D504E probably damaging Het
Fdps G T 3: 89,002,783 (GRCm39) P122T probably benign Het
Fmn2 T C 1: 174,547,437 (GRCm39) Y1454H probably damaging Het
Gipc2 T C 3: 151,799,866 (GRCm39) E288G probably damaging Het
Gm21411 A C 4: 146,982,167 (GRCm39) probably null Het
Hnrnpc C T 14: 52,321,719 (GRCm39) D32N possibly damaging Het
Hspa12b T A 2: 130,982,859 (GRCm39) I239N probably damaging Het
Hspb8 T C 5: 116,553,485 (GRCm39) N138D probably damaging Het
Igkv4-69 T C 6: 69,260,921 (GRCm39) I69V possibly damaging Het
Itih1 A C 14: 30,664,482 (GRCm39) D81E probably benign Het
Kdm3b T C 18: 34,941,781 (GRCm39) L624S probably damaging Het
Klk6 A G 7: 43,478,086 (GRCm39) M153V probably benign Het
Lgals9 A T 11: 78,854,302 (GRCm39) Y327* probably null Het
Lims1 T A 10: 58,246,263 (GRCm39) probably benign Het
Lrp1b T A 2: 40,750,667 (GRCm39) I3080F Het
Mars2 C T 1: 55,277,456 (GRCm39) T353I possibly damaging Het
Matn4 T C 2: 164,238,960 (GRCm39) N307S probably damaging Het
Mettl17 C T 14: 52,128,947 (GRCm39) H406Y probably damaging Het
Mtor T A 4: 148,630,856 (GRCm39) M2271K probably benign Het
Mtrex T C 13: 113,035,336 (GRCm39) E539G probably benign Het
Myt1 T C 2: 181,437,532 (GRCm39) L81P probably damaging Het
Or56a3b T A 7: 104,770,757 (GRCm39) L31H probably damaging Het
Or5b118 T C 19: 13,449,263 (GRCm39) F310L probably benign Het
Or6k4 A T 1: 173,964,490 (GRCm39) Y60F probably damaging Het
Or8b38 C T 9: 37,972,961 (GRCm39) T115I probably damaging Het
Pbrm1 A G 14: 30,806,109 (GRCm39) K1030R probably damaging Het
Rap1gds1 A T 3: 138,721,311 (GRCm39) D119E probably damaging Het
Rgs9 A G 11: 109,164,150 (GRCm39) I151T probably benign Het
Slc26a7 A C 4: 14,621,338 (GRCm39) M16R possibly damaging Het
Slx4ip T G 2: 136,885,945 (GRCm39) Y88* probably null Het
Sppl2c T A 11: 104,078,192 (GRCm39) W331R probably benign Het
Srcap T C 7: 127,141,784 (GRCm39) S1855P probably benign Het
Svs5 A G 2: 164,079,053 (GRCm39) F285L probably benign Het
Tjp1 G T 7: 64,992,450 (GRCm39) A76E probably benign Het
Trip13 G C 13: 74,061,373 (GRCm39) A430G probably benign Het
Trpm6 A G 19: 18,770,226 (GRCm39) E337G probably damaging Het
Tut7 A T 13: 59,937,004 (GRCm39) N1214K probably benign Het
Vmn1r37 T A 6: 66,708,377 (GRCm39) M1K probably null Het
Wdr72 T G 9: 74,086,783 (GRCm39) probably benign Het
Zfp583 T C 7: 6,319,771 (GRCm39) K414E probably damaging Het
Zfp940 A C 7: 29,544,948 (GRCm39) S320A probably benign Het
Zfp979 A C 4: 147,697,763 (GRCm39) C315W probably damaging Het
Other mutations in Arrdc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02376:Arrdc2 APN 8 71,291,623 (GRCm39) missense probably benign 0.11
R1593:Arrdc2 UTSW 8 71,289,764 (GRCm39) missense probably damaging 1.00
R2918:Arrdc2 UTSW 8 71,290,171 (GRCm39) missense probably benign 0.00
R4179:Arrdc2 UTSW 8 71,289,821 (GRCm39) missense probably damaging 1.00
R4825:Arrdc2 UTSW 8 71,291,921 (GRCm39) splice site probably null
R4974:Arrdc2 UTSW 8 71,290,162 (GRCm39) missense probably benign 0.17
R6851:Arrdc2 UTSW 8 71,291,369 (GRCm39) missense probably damaging 1.00
R7827:Arrdc2 UTSW 8 71,292,038 (GRCm39) missense probably damaging 1.00
R8493:Arrdc2 UTSW 8 71,289,501 (GRCm39) critical splice donor site probably null
R9269:Arrdc2 UTSW 8 71,288,973 (GRCm39) missense probably benign 0.00
R9413:Arrdc2 UTSW 8 71,288,892 (GRCm39) missense probably damaging 1.00
X0012:Arrdc2 UTSW 8 71,289,986 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TGTAACTCTGAGTATAAGCAGTGCTG -3'
(R):5'- CCAACCGTCCTATAAGTGCGAC -3'

Sequencing Primer
(F):5'- TATAAGCAGTGCTGGAGCCC -3'
(R):5'- TCCTATAAGTGCGACGCAGCTG -3'
Posted On 2020-01-23