Incidental Mutation 'R7252:Fancd2'
ID 563992
Institutional Source Beutler Lab
Gene Symbol Fancd2
Ensembl Gene ENSMUSG00000034023
Gene Name Fanconi anemia, complementation group D2
Synonyms 2410150O07Rik
MMRRC Submission 045385-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7252 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 113508643-113573978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113533246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 521 (N521I)
Ref Sequence ENSEMBL: ENSMUSP00000045667 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036340] [ENSMUST00000204827]
AlphaFold Q80V62
PDB Structure Structure of the FANCI-FANCD2 complex [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000036340
AA Change: N521I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: N521I

DomainStartEndE-ValueType
Pfam:FancD2 1 1415 N/A PFAM
low complexity region 1430 1450 N/A INTRINSIC
Predicted Effect
SMART Domains Protein: ENSMUSP00000122091
Gene: ENSMUSG00000034023
AA Change: N122I

DomainStartEndE-ValueType
Pfam:FancD2 1 246 5.7e-116 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204827
AA Change: N521I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: N521I

DomainStartEndE-ValueType
Pfam:FancD2 1 1402 N/A PFAM
low complexity region 1417 1437 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 99% (81/82)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygous mutant mice exhibit defects observed in human patients with Fanconi anemia (FA) meiotic defects and germ cell loss. In addition, mutant mice display perinatal lethality, susceptiblity ot epithelial cancer, and microphthalmia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Abcc2 T A 19: 43,816,388 (GRCm39) I1226N probably damaging Het
Adarb2 A G 13: 8,620,216 (GRCm39) E234G probably benign Het
Ankrd52 T C 10: 128,217,865 (GRCm39) S282P probably damaging Het
Arhgef12 A T 9: 42,927,205 (GRCm39) S306R probably benign Het
Baiap2 G T 11: 119,893,865 (GRCm39) A514S probably benign Het
BC030500 T A 8: 59,364,838 (GRCm39) probably null Het
C1qtnf12 T A 4: 156,047,072 (GRCm39) W13R unknown Het
Ccdc158 A G 5: 92,798,647 (GRCm39) V351A probably benign Het
Cct8 T C 16: 87,281,807 (GRCm39) E485G probably benign Het
Cep85 T C 4: 133,875,342 (GRCm39) D542G probably benign Het
Clhc1 T A 11: 29,513,937 (GRCm39) S340R probably benign Het
Cnot4 A T 6: 35,046,362 (GRCm39) D168E probably damaging Het
Cntn5 G A 9: 9,831,640 (GRCm39) T375I probably benign Het
Ctc1 T A 11: 68,917,000 (GRCm39) I298N probably damaging Het
Dchs2 T A 3: 83,232,610 (GRCm39) N2198K probably benign Het
Ddx6 G A 9: 44,535,050 (GRCm39) probably null Het
Defb11 A G 8: 22,395,473 (GRCm39) I68T probably benign Het
Dip2a C T 10: 76,109,036 (GRCm39) V1212I not run Het
Dop1a T A 9: 86,382,874 (GRCm39) I269N probably damaging Het
Efna3 C T 3: 89,223,971 (GRCm39) G73S possibly damaging Het
Fam98b C G 2: 117,094,373 (GRCm39) R228G probably damaging Het
Farsa A G 8: 85,587,957 (GRCm39) D134G probably damaging Het
Fat2 A T 11: 55,202,088 (GRCm39) F329I probably damaging Het
Gm14399 A T 2: 174,974,991 (GRCm39) I43K probably damaging Het
Gpr15 A G 16: 58,538,760 (GRCm39) S110P probably damaging Het
Gpr157 T C 4: 150,183,331 (GRCm39) V167A probably benign Het
Hacd4 A G 4: 88,345,000 (GRCm39) I134T possibly damaging Het
Hpgd T A 8: 56,751,461 (GRCm39) N96K probably damaging Het
Insm2 A T 12: 55,647,305 (GRCm39) T350S probably benign Het
Iqch C T 9: 63,419,518 (GRCm39) probably null Het
Kmt2d A G 15: 98,742,147 (GRCm39) S4338P unknown Het
Krtap9-3 A G 11: 99,488,796 (GRCm39) S29P probably benign Het
Kyat3 T A 3: 142,426,219 (GRCm39) S87T probably benign Het
Minar2 A G 18: 59,199,980 (GRCm39) probably null Het
Mrpl46 T C 7: 78,430,336 (GRCm39) T145A probably benign Het
Neb A G 2: 52,214,973 (GRCm39) probably null Het
Or2aj5 A T 16: 19,425,249 (GRCm39) H55Q probably damaging Het
Or4c124 T A 2: 89,156,629 (GRCm39) probably benign Het
Or6x1 C T 9: 40,098,657 (GRCm39) T82I probably benign Het
Or7g17 A G 9: 18,768,548 (GRCm39) Y200C probably damaging Het
Or9a7 A G 6: 40,521,703 (GRCm39) I70T probably benign Het
Otogl T C 10: 107,657,804 (GRCm39) D1042G probably benign Het
Paxip1 C T 5: 27,965,084 (GRCm39) V659I probably damaging Het
Pfkl A G 10: 77,829,263 (GRCm39) W382R probably damaging Het
Pfn1 A G 11: 70,545,297 (GRCm39) W4R probably damaging Het
Pik3c2b G A 1: 133,022,472 (GRCm39) R1138H probably benign Het
Pkd1l3 A G 8: 110,387,330 (GRCm39) D1758G probably benign Het
Pmpca G C 2: 26,285,046 (GRCm39) E424Q possibly damaging Het
Pramel29 T C 4: 143,939,510 (GRCm39) D9G possibly damaging Het
Prdm12 A G 2: 31,532,386 (GRCm39) N132S possibly damaging Het
Prokr2 T A 2: 132,223,360 (GRCm39) M61L probably benign Het
Ralgapa2 T C 2: 146,184,671 (GRCm39) probably null Het
Ralgps1 A T 2: 33,058,200 (GRCm39) D301E probably benign Het
Rcbtb2 T C 14: 73,404,220 (GRCm39) Y231H probably damaging Het
Rcc2 G A 4: 140,429,586 (GRCm39) C40Y probably benign Het
Relb C A 7: 19,346,538 (GRCm39) E345* probably null Het
Rhbdl3 A C 11: 80,228,411 (GRCm39) M294L possibly damaging Het
Rpl24 G A 16: 55,790,479 (GRCm39) A112T possibly damaging Het
Rsbn1l C T 5: 21,113,196 (GRCm39) R442Q probably damaging Het
Rxfp3 A T 15: 11,036,025 (GRCm39) I449N probably benign Het
Sema4c A C 1: 36,589,096 (GRCm39) C677G probably damaging Het
Sf3b3 A C 8: 111,566,562 (GRCm39) I256S probably damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Slc39a6 G T 18: 24,734,442 (GRCm39) N82K possibly damaging Het
Slc3a2 T C 19: 8,700,521 (GRCm39) probably benign Het
Stard13 T C 5: 150,986,634 (GRCm39) Q292R probably benign Het
Tgm6 A G 2: 129,986,884 (GRCm39) R451G probably damaging Het
Tspo G T 15: 83,456,466 (GRCm39) G83V probably damaging Het
Ubxn10 T C 4: 138,448,187 (GRCm39) Q163R probably benign Het
Ushbp1 A G 8: 71,847,246 (GRCm39) S129P probably benign Het
Vmn2r23 T A 6: 123,718,540 (GRCm39) V631D probably damaging Het
Vmn2r24 T C 6: 123,764,191 (GRCm39) I356T possibly damaging Het
Vmn2r84 C T 10: 130,222,279 (GRCm39) C647Y probably damaging Het
Vps13a T C 19: 16,638,428 (GRCm39) E2356G probably benign Het
Wdr64 A G 1: 175,603,240 (GRCm39) T614A probably benign Het
Zdhhc16 G T 19: 41,929,990 (GRCm39) W271L probably damaging Het
Zer1 A C 2: 29,991,904 (GRCm39) S652A probably damaging Het
Zfp287 A G 11: 62,615,655 (GRCm39) V224A probably damaging Het
Zfp438 A T 18: 5,214,874 (GRCm39) L28* probably null Het
Zfp830 G A 11: 82,655,534 (GRCm39) A113T probably benign Het
Zfp865 G T 7: 5,037,416 (GRCm39) probably benign Het
Other mutations in Fancd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00401:Fancd2 APN 6 113,541,357 (GRCm39) critical splice donor site probably null
IGL00475:Fancd2 APN 6 113,545,571 (GRCm39) missense probably benign 0.01
IGL01319:Fancd2 APN 6 113,561,860 (GRCm39) missense probably damaging 0.98
IGL01339:Fancd2 APN 6 113,530,713 (GRCm39) missense probably benign 0.00
IGL01373:Fancd2 APN 6 113,530,713 (GRCm39) missense probably benign 0.00
IGL01393:Fancd2 APN 6 113,554,321 (GRCm39) splice site probably benign
IGL01630:Fancd2 APN 6 113,540,085 (GRCm39) missense probably damaging 1.00
IGL01769:Fancd2 APN 6 113,522,072 (GRCm39) missense possibly damaging 0.90
IGL01882:Fancd2 APN 6 113,523,601 (GRCm39) missense probably benign 0.05
IGL02029:Fancd2 APN 6 113,547,936 (GRCm39) missense probably benign 0.44
IGL02224:Fancd2 APN 6 113,545,281 (GRCm39) critical splice donor site probably null
IGL02271:Fancd2 APN 6 113,512,720 (GRCm39) splice site probably benign
IGL02352:Fancd2 APN 6 113,540,073 (GRCm39) missense probably damaging 1.00
IGL02359:Fancd2 APN 6 113,540,073 (GRCm39) missense probably damaging 1.00
IGL02427:Fancd2 APN 6 113,526,313 (GRCm39) splice site probably null
IGL02512:Fancd2 APN 6 113,547,904 (GRCm39) missense probably damaging 1.00
IGL02530:Fancd2 APN 6 113,539,422 (GRCm39) missense probably damaging 1.00
IGL02801:Fancd2 APN 6 113,570,278 (GRCm39) missense probably benign 0.00
IGL03090:Fancd2 APN 6 113,514,558 (GRCm39) splice site probably null
IGL03247:Fancd2 APN 6 113,545,169 (GRCm39) missense probably benign 0.03
R0278:Fancd2 UTSW 6 113,525,409 (GRCm39) critical splice donor site probably null
R0401:Fancd2 UTSW 6 113,525,304 (GRCm39) missense possibly damaging 0.46
R0420:Fancd2 UTSW 6 113,513,940 (GRCm39) missense probably damaging 0.98
R0496:Fancd2 UTSW 6 113,532,091 (GRCm39) splice site probably benign
R0762:Fancd2 UTSW 6 113,551,619 (GRCm39) missense probably benign 0.20
R0827:Fancd2 UTSW 6 113,563,210 (GRCm39) critical splice donor site probably null
R1225:Fancd2 UTSW 6 113,512,822 (GRCm39) missense probably damaging 0.99
R1576:Fancd2 UTSW 6 113,555,366 (GRCm39) missense probably damaging 0.98
R2010:Fancd2 UTSW 6 113,570,252 (GRCm39) missense probably damaging 0.96
R2079:Fancd2 UTSW 6 113,532,148 (GRCm39) missense probably damaging 1.00
R2118:Fancd2 UTSW 6 113,537,035 (GRCm39) splice site probably benign
R2141:Fancd2 UTSW 6 113,526,282 (GRCm39) missense probably benign 0.00
R2168:Fancd2 UTSW 6 113,568,120 (GRCm39) missense possibly damaging 0.92
R2180:Fancd2 UTSW 6 113,551,598 (GRCm39) missense probably benign 0.33
R3016:Fancd2 UTSW 6 113,513,687 (GRCm39) missense probably benign 0.00
R3153:Fancd2 UTSW 6 113,570,230 (GRCm39) missense possibly damaging 0.55
R3154:Fancd2 UTSW 6 113,570,230 (GRCm39) missense possibly damaging 0.55
R3783:Fancd2 UTSW 6 113,542,165 (GRCm39) missense probably damaging 1.00
R3786:Fancd2 UTSW 6 113,542,165 (GRCm39) missense probably damaging 1.00
R3787:Fancd2 UTSW 6 113,542,165 (GRCm39) missense probably damaging 1.00
R4379:Fancd2 UTSW 6 113,538,677 (GRCm39) missense probably benign 0.00
R4388:Fancd2 UTSW 6 113,533,329 (GRCm39) missense probably damaging 0.99
R4544:Fancd2 UTSW 6 113,549,603 (GRCm39) critical splice acceptor site probably null
R4598:Fancd2 UTSW 6 113,562,438 (GRCm39) missense probably benign 0.06
R4832:Fancd2 UTSW 6 113,530,683 (GRCm39) missense probably benign 0.16
R4841:Fancd2 UTSW 6 113,539,391 (GRCm39) missense probably damaging 1.00
R4922:Fancd2 UTSW 6 113,562,434 (GRCm39) missense probably benign 0.03
R5375:Fancd2 UTSW 6 113,545,673 (GRCm39) missense possibly damaging 0.93
R5579:Fancd2 UTSW 6 113,537,012 (GRCm39) critical splice acceptor site probably null
R5782:Fancd2 UTSW 6 113,525,833 (GRCm39) missense probably benign 0.00
R5871:Fancd2 UTSW 6 113,533,243 (GRCm39) missense probably benign 0.30
R5901:Fancd2 UTSW 6 113,526,326 (GRCm39) missense probably damaging 1.00
R5909:Fancd2 UTSW 6 113,538,672 (GRCm39) missense probably benign
R6026:Fancd2 UTSW 6 113,528,731 (GRCm39) missense possibly damaging 0.46
R6166:Fancd2 UTSW 6 113,532,212 (GRCm39) missense possibly damaging 0.67
R6393:Fancd2 UTSW 6 113,555,374 (GRCm39) missense probably benign 0.01
R6666:Fancd2 UTSW 6 113,562,470 (GRCm39) missense probably damaging 0.96
R6669:Fancd2 UTSW 6 113,570,288 (GRCm39) missense probably benign 0.00
R6676:Fancd2 UTSW 6 113,514,626 (GRCm39) nonsense probably null
R6762:Fancd2 UTSW 6 113,562,977 (GRCm39) splice site probably null
R6911:Fancd2 UTSW 6 113,525,346 (GRCm39) missense probably damaging 0.98
R6992:Fancd2 UTSW 6 113,547,979 (GRCm39) critical splice donor site probably null
R7091:Fancd2 UTSW 6 113,522,062 (GRCm39) missense probably damaging 1.00
R7343:Fancd2 UTSW 6 113,513,900 (GRCm39) missense probably benign 0.01
R7344:Fancd2 UTSW 6 113,545,670 (GRCm39) missense probably benign 0.09
R7354:Fancd2 UTSW 6 113,572,907 (GRCm39) missense unknown
R7489:Fancd2 UTSW 6 113,541,265 (GRCm39) missense probably benign
R7501:Fancd2 UTSW 6 113,525,364 (GRCm39) missense possibly damaging 0.95
R7504:Fancd2 UTSW 6 113,521,999 (GRCm39) missense probably damaging 1.00
R7992:Fancd2 UTSW 6 113,542,165 (GRCm39) missense probably damaging 1.00
R8027:Fancd2 UTSW 6 113,523,583 (GRCm39) missense probably damaging 1.00
R8487:Fancd2 UTSW 6 113,545,187 (GRCm39) missense probably damaging 1.00
R8509:Fancd2 UTSW 6 113,549,531 (GRCm39) missense probably benign 0.00
R8757:Fancd2 UTSW 6 113,537,054 (GRCm39) missense possibly damaging 0.91
R8960:Fancd2 UTSW 6 113,540,129 (GRCm39) critical splice donor site probably null
R8978:Fancd2 UTSW 6 113,562,507 (GRCm39) splice site probably benign
R9110:Fancd2 UTSW 6 113,512,762 (GRCm39) missense possibly damaging 0.94
R9116:Fancd2 UTSW 6 113,532,180 (GRCm39) missense probably benign 0.00
R9490:Fancd2 UTSW 6 113,555,416 (GRCm39) missense probably damaging 0.98
R9667:Fancd2 UTSW 6 113,530,717 (GRCm39) nonsense probably null
Z1088:Fancd2 UTSW 6 113,558,383 (GRCm39) missense probably benign 0.00
Z1177:Fancd2 UTSW 6 113,521,986 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACCTGGTAATTGAAGTAGCTGGG -3'
(R):5'- GCACTCAGCATCATGTTACCG -3'

Sequencing Primer
(F):5'- TACATTTGCCAAGGATCCGG -3'
(R):5'- CATTGACCAGGTAGTTTCTACGAC -3'
Posted On 2019-06-26