Incidental Mutation 'R2010:Fancd2'
ID 219466
Institutional Source Beutler Lab
Gene Symbol Fancd2
Ensembl Gene ENSMUSG00000034023
Gene Name Fanconi anemia, complementation group D2
Synonyms 2410150O07Rik
MMRRC Submission 040019-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2010 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 113508643-113573978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113570252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1401 (D1401V)
Ref Sequence ENSEMBL: ENSMUSP00000144928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035870] [ENSMUST00000036340] [ENSMUST00000125139] [ENSMUST00000204827]
AlphaFold Q80V62
Predicted Effect probably benign
Transcript: ENSMUST00000035870
SMART Domains Protein: ENSMUSP00000035316
Gene: ENSMUSG00000033963

DomainStartEndE-ValueType
Pfam:DUF4563 3 178 1.4e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000036340
AA Change: D1414V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: D1414V

DomainStartEndE-ValueType
Pfam:FancD2 1 1415 N/A PFAM
low complexity region 1430 1450 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125139
SMART Domains Protein: ENSMUSP00000121804
Gene: ENSMUSG00000033963

DomainStartEndE-ValueType
Pfam:DUF4563 1 178 5.2e-109 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000204827
AA Change: D1401V

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: D1401V

DomainStartEndE-ValueType
Pfam:FancD2 1 1402 N/A PFAM
low complexity region 1417 1437 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 92.6%
Validation Efficiency
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik G A 3: 36,535,955 (GRCm39) G74S unknown Het
Aimp1 A T 3: 132,373,253 (GRCm39) L229Q probably benign Het
Arhgef6 T C X: 56,344,865 (GRCm39) T52A possibly damaging Het
Aste1 C A 9: 105,280,701 (GRCm39) H25Q probably damaging Het
Atp13a1 G A 8: 70,244,010 (GRCm39) G36R possibly damaging Het
Bahcc1 T C 11: 120,163,604 (GRCm39) V634A probably damaging Het
Bltp1 T G 3: 36,982,700 (GRCm39) N788K probably benign Het
C1s1 A T 6: 124,514,353 (GRCm39) Y168N probably damaging Het
Camsap2 T C 1: 136,202,606 (GRCm39) S612G probably damaging Het
Cdh23 C A 10: 60,150,006 (GRCm39) R2611L probably damaging Het
Cfap20dc A T 14: 8,511,021 (GRCm38) F464L probably damaging Het
Cilp2 A G 8: 70,334,344 (GRCm39) Y885H probably damaging Het
Dhrs3 C T 4: 144,653,758 (GRCm39) T227I possibly damaging Het
Dnah2 A T 11: 69,349,184 (GRCm39) probably null Het
Dnah3 T G 7: 119,694,400 (GRCm39) M1L probably benign Het
Ehbp1l1 A G 19: 5,769,311 (GRCm39) I664T probably benign Het
Eif4e C T 3: 138,261,219 (GRCm39) T171I probably benign Het
Elfn1 C T 5: 139,959,071 (GRCm39) R692W probably damaging Het
Eps8l3 T A 3: 107,786,688 (GRCm39) M1K probably null Het
Evi5 C A 5: 107,961,411 (GRCm39) probably null Het
Fat2 G A 11: 55,144,653 (GRCm39) R4074C probably damaging Het
Fkbp4 A T 6: 128,412,765 (GRCm39) V55E probably benign Het
Fnip1 A G 11: 54,373,329 (GRCm39) D180G probably damaging Het
Galc A G 12: 98,220,489 (GRCm39) F126S possibly damaging Het
Gdf7 C T 12: 8,351,729 (GRCm39) V69M unknown Het
Glis2 A G 16: 4,426,575 (GRCm39) E22G probably damaging Het
H2bc3 G A 13: 23,931,111 (GRCm39) V112M possibly damaging Het
Hps4 T A 5: 112,517,342 (GRCm39) V243E probably damaging Het
Ighe T A 12: 113,235,108 (GRCm39) I351F unknown Het
Irak4 A T 15: 94,449,687 (GRCm39) R55S probably damaging Het
Itpr2 G A 6: 146,129,022 (GRCm39) probably null Het
Katnip A G 7: 125,472,128 (GRCm39) I1544M possibly damaging Het
Kirrel3 T C 9: 34,850,494 (GRCm39) Y41H probably damaging Het
Krr1 A G 10: 111,811,474 (GRCm39) E56G possibly damaging Het
Lgi1 G A 19: 38,289,683 (GRCm39) V250I probably damaging Het
Lipf A G 19: 33,950,946 (GRCm39) N306D probably benign Het
Lman2l C T 1: 36,484,262 (GRCm39) W18* probably null Het
Lztfl1 T A 9: 123,531,251 (GRCm39) N239I possibly damaging Het
Mief1 T C 15: 80,132,126 (GRCm39) S66P possibly damaging Het
Mmp8 C A 9: 7,567,535 (GRCm39) S465* probably null Het
Muc2 A T 7: 141,287,444 (GRCm39) T208S probably damaging Het
Myh8 A T 11: 67,187,990 (GRCm39) K921* probably null Het
Myh9 T C 15: 77,656,147 (GRCm39) E1121G probably benign Het
Nbn T C 4: 15,969,393 (GRCm39) S213P probably damaging Het
Nol10 A G 12: 17,466,102 (GRCm39) E499G probably benign Het
Nxn T C 11: 76,289,627 (GRCm39) E87G probably damaging Het
Or14c40 A G 7: 86,313,811 (GRCm39) T314A probably benign Het
Or51f2 T A 7: 102,526,892 (GRCm39) C188* probably null Het
Or8g23 T C 9: 38,971,395 (GRCm39) H189R probably benign Het
Pds5b CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 5: 150,698,819 (GRCm39) probably benign Het
Pigk A G 3: 152,472,151 (GRCm39) I354M probably damaging Het
Pigl T A 11: 62,349,508 (GRCm39) C75S probably damaging Het
Pm20d1 T A 1: 131,739,852 (GRCm39) I400N probably benign Het
Prkg2 T A 5: 99,172,664 (GRCm39) H17L probably benign Het
Psmd1 T A 1: 86,003,719 (GRCm39) L168Q probably damaging Het
Rab3gap2 A T 1: 185,010,478 (GRCm39) H1136L possibly damaging Het
Rb1 T C 14: 73,532,433 (GRCm39) T134A probably benign Het
Rims1 T C 1: 22,367,220 (GRCm39) E1024G probably damaging Het
Rrp12 A G 19: 41,861,376 (GRCm39) V977A probably benign Het
Rusc2 C T 4: 43,415,212 (GRCm39) P173S probably benign Het
Selenov A T 7: 27,987,447 (GRCm39) D310E probably damaging Het
Serpina3f T A 12: 104,183,582 (GRCm39) L148Q probably damaging Het
Slc10a1 C T 12: 81,007,221 (GRCm39) V187I probably benign Het
Spsb2 A G 6: 124,787,339 (GRCm39) K258E probably damaging Het
Tas2r105 A C 6: 131,664,365 (GRCm39) V21G probably benign Het
Tmem229b-ps T A 10: 53,351,295 (GRCm39) noncoding transcript Het
Tnrc6a C G 7: 122,770,269 (GRCm39) H686Q probably benign Het
Trpc2 T A 7: 101,743,780 (GRCm39) F715L probably benign Het
Ube2t T A 1: 134,897,036 (GRCm39) I56N probably benign Het
Ubr4 T C 4: 139,207,963 (GRCm39) Y4915H possibly damaging Het
Usp32 T A 11: 84,930,830 (GRCm39) E533D probably damaging Het
Vipr2 T G 12: 116,086,430 (GRCm39) probably null Het
Vmn1r15 A G 6: 57,235,269 (GRCm39) T46A probably benign Het
Vmn1r203 T G 13: 22,708,617 (GRCm39) S133A possibly damaging Het
Vmn1r215 T G 13: 23,260,378 (GRCm39) N139K probably damaging Het
Vmn1r232 C T 17: 21,133,601 (GRCm39) R333H probably benign Het
Wdr20rt C A 12: 65,273,988 (GRCm39) H311N possibly damaging Het
Zranb1 T C 7: 132,568,425 (GRCm39) probably null 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
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
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'- GTTCTTCCCTGAATGATAGGTCAG -3'
(R):5'- TGGATCCCAAAGCATTCATGTAAG -3'

Sequencing Primer
(F):5'- CCCTGAATGATAGGTCAGAGGTTG -3'
(R):5'- GAGATGGGCACAGAGTTATT -3'
Posted On 2014-08-25