Incidental Mutation 'IGL02990:Dirc2'
ID 406896
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dirc2
Ensembl Gene ENSMUSG00000022848
Gene Name disrupted in renal carcinoma 2 (human)
Synonyms RCC4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.901) question?
Stock # IGL02990
Quality Score
Status
Chromosome 16
Chromosomal Location 35694062-35769356 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 35735491 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 200 (V200F)
Ref Sequence ENSEMBL: ENSMUSP00000023554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023554] [ENSMUST00000149892]
AlphaFold Q8BFQ6
Predicted Effect possibly damaging
Transcript: ENSMUST00000023554
AA Change: V200F

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000023554
Gene: ENSMUSG00000022848
AA Change: V200F

DomainStartEndE-ValueType
low complexity region 8 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
transmembrane domain 90 111 N/A INTRINSIC
transmembrane domain 116 138 N/A INTRINSIC
transmembrane domain 148 170 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
transmembrane domain 231 250 N/A INTRINSIC
low complexity region 251 258 N/A INTRINSIC
transmembrane domain 280 302 N/A INTRINSIC
transmembrane domain 317 339 N/A INTRINSIC
transmembrane domain 344 366 N/A INTRINSIC
transmembrane domain 381 403 N/A INTRINSIC
transmembrane domain 415 437 N/A INTRINSIC
transmembrane domain 441 463 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000149892
SMART Domains Protein: ENSMUSP00000120775
Gene: ENSMUSG00000022848

DomainStartEndE-ValueType
low complexity region 8 33 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
transmembrane domain 90 111 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alox12b G T 11: 69,163,206 V205F probably benign Het
Ampd3 T C 7: 110,807,963 probably benign Het
Arhgef18 G A 8: 3,444,904 V388I probably benign Het
Atp6v1c2 C T 12: 17,294,740 V169I probably damaging Het
Ccdc88b G T 19: 6,847,409 L1328I probably damaging Het
Ces1d C A 8: 93,169,718 probably null Het
Cluh G A 11: 74,667,765 probably null Het
Cpsf7 C A 19: 10,531,795 N23K probably benign Het
Cyp4x1 A T 4: 115,121,749 F191L probably benign Het
Dcn A G 10: 97,509,973 T216A probably benign Het
Drosha C T 15: 12,827,267 probably benign Het
Foxn4 A G 5: 114,272,989 S24P probably damaging Het
Gm11733 A T 11: 117,486,983 probably null Het
Hapln1 A C 13: 89,601,606 Y90S probably benign Het
Igf2r C A 17: 12,710,746 probably benign Het
Jade2 A G 11: 51,831,247 probably benign Het
Kcnh7 A T 2: 62,705,986 L1084H probably benign Het
Kif1a T C 1: 93,039,263 D1155G probably damaging Het
Llgl2 A G 11: 115,854,333 M958V probably benign Het
Lrp2 A G 2: 69,441,396 V4064A possibly damaging Het
Mau2 A G 8: 70,022,255 probably benign Het
Mllt10 T C 2: 18,123,711 probably benign Het
Myo15 A G 11: 60,479,440 T1009A probably benign Het
Myo6 T C 9: 80,276,403 probably null Het
Neil2 G T 14: 63,191,809 H12N possibly damaging Het
Nrde2 T C 12: 100,142,096 E412G probably damaging Het
Olfr114 C T 17: 37,589,668 M228I probably benign Het
Olfr1220 T C 2: 89,097,129 Y266C possibly damaging Het
Patl2 T G 2: 122,124,497 probably null Het
Pkhd1 T C 1: 20,522,963 H1642R possibly damaging Het
Ppp6r1 A G 7: 4,643,023 I199T possibly damaging Het
Prom2 T A 2: 127,528,814 T817S probably benign Het
Slc9b1 A G 3: 135,394,983 probably null Het
Sv2c A T 13: 96,088,378 I141K probably damaging Het
Tas2r139 A T 6: 42,141,104 I57F probably damaging Het
Tep1 A G 14: 50,868,246 S106P possibly damaging Het
Tnni3k T C 3: 154,957,758 D319G probably benign Het
Tom1l2 C T 11: 60,230,236 D461N probably damaging Het
Ugt1a10 T C 1: 88,055,879 L133S probably damaging Het
Usf2 T G 7: 30,955,307 Q161P probably benign Het
Vmn1r15 A G 6: 57,258,608 T154A probably benign Het
Vmn2r95 C A 17: 18,452,036 Y678* probably null Het
Other mutations in Dirc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02505:Dirc2 APN 16 35735558 missense probably benign 0.01
R0166:Dirc2 UTSW 16 35719314 missense possibly damaging 0.49
R0319:Dirc2 UTSW 16 35750514 missense probably benign 0.01
R0323:Dirc2 UTSW 16 35719360 frame shift probably null
R0497:Dirc2 UTSW 16 35735604 missense probably benign 0.40
R1240:Dirc2 UTSW 16 35698009 missense probably benign 0.00
R1460:Dirc2 UTSW 16 35719366 missense probably benign 0.25
R2115:Dirc2 UTSW 16 35697939 missense probably benign 0.17
R4502:Dirc2 UTSW 16 35719417 missense probably benign 0.00
R4503:Dirc2 UTSW 16 35719417 missense probably benign 0.00
R4563:Dirc2 UTSW 16 35697942 missense probably damaging 1.00
R4834:Dirc2 UTSW 16 35735575 missense probably benign 0.08
R5278:Dirc2 UTSW 16 35697988 missense probably damaging 1.00
R5651:Dirc2 UTSW 16 35735616 missense probably benign 0.25
R5717:Dirc2 UTSW 16 35719429 missense probably benign 0.00
R5947:Dirc2 UTSW 16 35730306 missense probably benign 0.14
R6176:Dirc2 UTSW 16 35704797 missense probably benign
R7155:Dirc2 UTSW 16 35735577 missense probably benign 0.02
R7450:Dirc2 UTSW 16 35768974 missense possibly damaging 0.76
R7645:Dirc2 UTSW 16 35734068 critical splice acceptor site probably null
R7905:Dirc2 UTSW 16 35768950 missense probably benign 0.33
R8425:Dirc2 UTSW 16 35735597 missense probably benign 0.01
R8670:Dirc2 UTSW 16 35735635 missense possibly damaging 0.76
R8827:Dirc2 UTSW 16 35733950 missense probably benign 0.01
R9022:Dirc2 UTSW 16 35750542 missense probably benign 0.00
R9421:Dirc2 UTSW 16 35698002 missense
Posted On 2016-08-02