Incidental Mutation 'IGL02505:Dirc2'
ID296274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dirc2
Ensembl Gene ENSMUSG00000022848
Gene Namedisrupted in renal carcinoma 2 (human)
SynonymsRCC4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.893) question?
Stock #IGL02505
Quality Score
Status
Chromosome16
Chromosomal Location35694062-35769356 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 35735558 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 177 (D177E)
Ref Sequence ENSEMBL: ENSMUSP00000023554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023554] [ENSMUST00000149892]
Predicted Effect probably benign
Transcript: ENSMUST00000023554
AA Change: D177E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000023554
Gene: ENSMUSG00000022848
AA Change: D177E

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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab C A 9: 63,616,814 L68M probably damaging Het
Abca13 T G 11: 9,581,498 L4575W probably damaging Het
Abcb11 A T 2: 69,245,761 V1201D probably damaging Het
Aldoa G T 7: 126,795,994 A252E probably damaging Het
Ap1b1 C T 11: 5,031,700 A536V probably benign Het
Arhgef3 A G 14: 27,394,000 H233R possibly damaging Het
Arhgef40 A T 14: 52,000,863 E1266D probably damaging Het
Atp1a4 C T 1: 172,235,075 V622M probably damaging Het
Aup1 A G 6: 83,055,277 T142A probably benign Het
Bcl6 A T 16: 23,977,569 I36N probably damaging Het
Best1 A G 19: 9,989,150 S358P probably damaging Het
Cadps T G 14: 12,449,759 Q1150P probably damaging Het
Capn5 T A 7: 98,131,196 E322D possibly damaging Het
Ccdc94 G T 17: 55,962,051 G53V probably damaging Het
Cd300ld2 A T 11: 115,013,687 M118K probably benign Het
Cdh9 T C 15: 16,855,989 L705P probably damaging Het
Cep170b T G 12: 112,743,070 N436K probably damaging Het
Chil6 T A 3: 106,405,962 I24F probably benign Het
Chmp2a T A 7: 13,033,855 K48* probably null Het
Col19a1 C T 1: 24,300,584 probably benign Het
Cops7b C A 1: 86,592,321 Q65K probably benign Het
Cyp2e1 T A 7: 140,769,156 L133H probably damaging Het
Dkc1 T C X: 75,108,733 probably benign Het
Erlec1 A G 11: 30,950,767 Y134H probably damaging Het
F8 C A X: 75,379,598 probably benign Het
Fus G A 7: 127,981,507 R252Q possibly damaging Het
Fzd3 A T 14: 65,253,106 D9E probably benign Het
Gm15821 T C 17: 34,214,285 probably benign Het
Gm5117 C A 8: 31,738,316 noncoding transcript Het
H2afy A G 13: 56,074,330 V336A probably damaging Het
H2-Q6 A G 17: 35,425,176 I45V probably benign Het
Hectd1 A G 12: 51,800,713 probably null Het
Ifi204 T C 1: 173,755,654 K333E probably benign Het
Ildr1 G A 16: 36,716,164 G185D probably damaging Het
Itgb2 G A 10: 77,547,218 D141N probably damaging Het
Kdm1b G T 13: 47,060,855 D226Y probably damaging Het
Krt77 A G 15: 101,860,946 L460P probably damaging Het
Lamp3 A G 16: 19,655,457 I389T possibly damaging Het
Mars C A 10: 127,304,244 E414* probably null Het
Mpg T C 11: 32,230,042 V190A probably damaging Het
Myh15 A G 16: 49,117,263 I742M possibly damaging Het
Nell2 A T 15: 95,296,263 probably benign Het
Nmur1 T C 1: 86,386,335 D370G probably benign Het
Npsr1 A G 9: 24,098,282 E28G probably benign Het
Olfr569 T C 7: 102,887,607 E182G probably damaging Het
Olfr679 A T 7: 105,086,333 I206L probably benign Het
Olfr8 G T 10: 78,955,933 V243F probably benign Het
Olfr876 G A 9: 37,804,331 C140Y probably benign Het
Pdzrn3 T C 6: 101,151,938 N589S possibly damaging Het
Pkd1l3 T C 8: 109,633,216 L901P probably damaging Het
Plekhg1 G T 10: 3,957,139 K685N probably damaging Het
Prim1 T A 10: 128,029,783 *419R probably null Het
Ptk2b G T 14: 66,154,243 N905K probably damaging Het
Rbm34 T C 8: 126,949,321 I395V probably benign Het
Rfx1 A G 8: 84,095,809 E912G possibly damaging Het
Rngtt T C 4: 33,337,936 V253A possibly damaging Het
Slc2a9 A G 5: 38,436,659 Y169H possibly damaging Het
Susd4 C A 1: 182,892,080 T420K probably benign Het
Tdrd3 G A 14: 87,511,682 G676D probably damaging Het
Tec T C 5: 72,789,244 K47E probably damaging Het
Tenm2 C A 11: 36,051,916 G1308* probably null Het
Tmprss15 A T 16: 78,987,741 D675E probably benign Het
Vmn1r84 A G 7: 12,362,419 C104R probably damaging Het
Vmn2r49 T A 7: 9,976,451 M785L probably benign Het
Vmn2r85 G T 10: 130,425,580 T296K probably damaging Het
Wdr3 C T 3: 100,151,974 S343N probably benign Het
Zfp143 A T 7: 110,091,786 M515L possibly damaging Het
Zfp735 A G 11: 73,689,800 I42V probably benign Het
Zswim5 A T 4: 116,962,552 M385L probably benign Het
Other mutations in Dirc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02990:Dirc2 APN 16 35735491 missense possibly damaging 0.68
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
R7988:Dirc2 UTSW 16 35768950 missense probably benign 0.33
Posted On2015-04-16