Incidental Mutation 'R8960:Fancd2'
ID 682278
Institutional Source Beutler Lab
Gene Symbol Fancd2
Ensembl Gene ENSMUSG00000034023
Gene Name Fanconi anemia, complementation group D2
Synonyms 2410150O07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8960 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 113508643-113573978 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 113540129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000036340
SMART Domains Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023

DomainStartEndE-ValueType
Pfam:FancD2 1 1415 N/A PFAM
low complexity region 1430 1450 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123738
SMART Domains Protein: ENSMUSP00000122091
Gene: ENSMUSG00000034023

DomainStartEndE-ValueType
Pfam:FancD2 1 246 5.7e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204827
SMART Domains Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023

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: 99.9%
  • 20x: 99.7%
Validation Efficiency 100% (78/78)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 G A 9: 44,186,063 (GRCm39) Q603* probably null Het
Adar A G 3: 89,647,516 (GRCm39) Y165C probably damaging Het
Afp A G 5: 90,651,500 (GRCm39) T372A probably benign Het
Asah1 T A 8: 41,800,061 (GRCm39) L184F probably damaging Het
Bltp1 A G 3: 37,067,132 (GRCm39) E3548G probably damaging Het
Bpifb2 A T 2: 153,731,046 (GRCm39) I206F possibly damaging Het
Btn1a1 C A 13: 23,648,741 (GRCm39) D31Y possibly damaging Het
C4b T A 17: 34,952,892 (GRCm39) D1110V probably damaging Het
Ccdc162 T A 10: 41,429,178 (GRCm39) D1901V probably damaging Het
Cd101 A G 3: 100,910,817 (GRCm39) V947A probably benign Het
Cd55b A T 1: 130,338,375 (GRCm39) S238T possibly damaging Het
Cdc25c T C 18: 34,866,329 (GRCm39) I437V possibly damaging Het
Cfap97 T C 8: 46,623,605 (GRCm39) S332P probably damaging Het
Chpf A G 1: 75,452,398 (GRCm39) L352P probably damaging Het
Cntln T A 4: 85,018,961 (GRCm39) M1217K possibly damaging Het
Cntrl A G 2: 35,052,053 (GRCm39) E1629G possibly damaging Het
Csnk1g2 T C 10: 80,474,396 (GRCm39) Y206H probably damaging Het
Cyp2c55 T A 19: 38,995,547 (GRCm39) W20R probably null Het
Dhx35 A T 2: 158,657,393 (GRCm39) H130L possibly damaging Het
Dnm1 A G 2: 32,202,741 (GRCm39) V54A probably damaging Het
Eea1 T A 10: 95,864,381 (GRCm39) S967T probably benign Het
Efcab3 A G 11: 104,820,772 (GRCm39) probably benign Het
Elf3 A T 1: 135,182,813 (GRCm39) I304N probably damaging Het
Eps8l1 G T 7: 4,481,214 (GRCm39) R672L probably damaging Het
Fam163a A T 1: 155,954,862 (GRCm39) C96* probably null Het
Fbxo3 C T 2: 103,858,274 (GRCm39) L23F possibly damaging Het
Fbxw14 A G 9: 109,114,367 (GRCm39) V121A possibly damaging Het
Fgd6 T A 10: 93,880,868 (GRCm39) V574D probably benign Het
Gask1b T C 3: 79,794,293 (GRCm39) S254P probably benign Het
Gbp11 A G 5: 105,479,251 (GRCm39) F124S probably damaging Het
Grin1 A T 2: 25,195,428 (GRCm39) probably benign Het
Grm2 T G 9: 106,531,345 (GRCm39) E48A probably benign Het
H2-M10.5 T A 17: 37,084,770 (GRCm39) Y165N probably benign Het
Hoxa13 A C 6: 52,236,976 (GRCm39) S172A probably benign Het
Ifih1 T A 2: 62,442,235 (GRCm39) K376N possibly damaging Het
Insrr C A 3: 87,720,386 (GRCm39) T1008K probably damaging Het
Itih1 A G 14: 30,655,414 (GRCm39) S594P probably damaging Het
Kidins220 T C 12: 25,106,914 (GRCm39) S1365P probably benign Het
Malrd1 A T 2: 15,570,241 (GRCm39) K158* probably null Het
Man2c1 G A 9: 57,045,279 (GRCm39) G504R probably damaging Het
Mbd1 T C 18: 74,406,890 (GRCm39) probably null Het
Micall2 G A 5: 139,702,025 (GRCm39) A323V probably benign Het
Mroh9 A C 1: 162,883,196 (GRCm39) F428V probably benign Het
Myo7b T A 18: 32,127,299 (GRCm39) probably benign Het
Niban1 A T 1: 151,591,463 (GRCm39) H535L possibly damaging Het
Obscn A T 11: 58,922,438 (GRCm39) V6567E probably damaging Het
Or1e28-ps1 A C 11: 73,615,230 (GRCm39) S207A unknown Het
Or1e33 A T 11: 73,738,167 (GRCm39) C261* probably null Het
Or2g25 T A 17: 37,970,760 (GRCm39) T155S probably benign Het
Or2y1d A T 11: 49,321,543 (GRCm39) Q80L probably benign Het
Or5h25 T A 16: 58,930,555 (GRCm39) R139S probably benign Het
Or8b53 A T 9: 38,667,385 (GRCm39) I134F possibly damaging Het
Pde4dip T C 3: 97,700,464 (GRCm39) D238G probably damaging Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Pgbd5 T A 8: 125,111,175 (GRCm39) Y172F probably benign Het
Pkd1 A G 17: 24,795,176 (GRCm39) T2288A probably damaging Het
Ppp6r2 T A 15: 89,137,239 (GRCm39) M1K probably null Het
Rc3h1 A G 1: 160,774,164 (GRCm39) T344A probably damaging Het
Rgs5 T C 1: 169,504,461 (GRCm39) V37A possibly damaging Het
Rgs9 A G 11: 109,139,815 (GRCm39) S17P possibly damaging Het
Rusc1 T A 3: 88,991,865 (GRCm39) D407V probably damaging Het
Rwdd1 T A 10: 33,895,383 (GRCm39) I18F possibly damaging Het
Satb2 C T 1: 56,910,470 (GRCm39) probably null Het
Sds A G 5: 120,621,659 (GRCm39) E267G probably damaging Het
Sema4b T A 7: 79,875,076 (GRCm39) V822E probably damaging Het
Sfxn5 A T 6: 85,266,176 (GRCm39) M107K probably damaging Het
Slc5a8 C T 10: 88,722,035 (GRCm39) probably benign Het
Sorbs1 T C 19: 40,387,048 (GRCm39) D6G probably damaging Het
Syt14 A C 1: 192,666,515 (GRCm39) probably benign Het
Vmn2r124 T G 17: 18,283,291 (GRCm39) Y328* probably null Het
Vmn2r86 T A 10: 130,289,672 (GRCm39) E74D probably benign Het
Vmo1 A C 11: 70,404,476 (GRCm39) L175W probably damaging Het
Vps13a G T 19: 16,683,247 (GRCm39) L982I possibly damaging Het
Wdr19 T C 5: 65,398,211 (GRCm39) V812A probably benign Het
Wdr27 T C 17: 15,103,908 (GRCm39) I733V probably benign Het
Wdr54 A T 6: 83,132,739 (GRCm39) H38Q probably damaging Het
Wdr76 G A 2: 121,341,104 (GRCm39) V50I probably damaging Het
Zfp930 T A 8: 69,680,541 (GRCm39) N59K probably damaging Het
Zfyve9 T C 4: 108,501,558 (GRCm39) N1218S possibly damaging 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
R7252:Fancd2 UTSW 6 113,533,246 (GRCm39) missense probably damaging 0.98
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
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'- AGCTGGAAGGCTGTTTCACC -3'
(R):5'- CAAGGCCATGCTGGAAATCAC -3'

Sequencing Primer
(F):5'- AGGCACCATTTGTTCGACAG -3'
(R):5'- GGCCATGCTGGAAATCACTAGAAC -3'
Posted On 2021-08-31