Incidental Mutation 'R9116:Fancd2'
ID 692531
Institutional Source Beutler Lab
Gene Symbol Fancd2
Ensembl Gene ENSMUSG00000034023
Gene Name Fanconi anemia, complementation group D2
Synonyms 2410150O07Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9116 (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 G at 113532180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 498 (I498V)
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 benign
Transcript: ENSMUST00000036340
AA Change: I498V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: I498V

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: I99V

DomainStartEndE-ValueType
Pfam:FancD2 1 246 5.7e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204827
AA Change: I498V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: I498V

DomainStartEndE-ValueType
Pfam:FancD2 1 1402 N/A PFAM
low complexity region 1417 1437 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (76/76)
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
Abca7 T A 10: 79,838,973 (GRCm39) L689Q Het
Abcc2 G A 19: 43,793,391 (GRCm39) V348M probably benign Het
Abhd5 T C 9: 122,196,992 (GRCm39) S60P probably benign Het
Adamts10 C A 17: 33,756,330 (GRCm39) H324Q probably benign Het
Akap1 A G 11: 88,723,165 (GRCm39) L823P probably damaging Het
Aoc1 G A 6: 48,885,522 (GRCm39) V676I probably damaging Het
Arhgef12 T C 9: 42,893,241 (GRCm39) probably benign Het
Arl4d A C 11: 101,557,620 (GRCm39) S49R possibly damaging Het
Atr A G 9: 95,747,851 (GRCm39) I378V probably benign Het
Bicd1 G A 6: 149,385,674 (GRCm39) V136I probably benign Het
Brd1 A T 15: 88,585,374 (GRCm39) L820H possibly damaging Het
Cfap70 T C 14: 20,497,590 (GRCm39) T55A probably benign Het
Cog7 G T 7: 121,570,561 (GRCm39) N182K probably damaging Het
Col4a4 T A 1: 82,431,752 (GRCm39) T1511S unknown Het
Cr2 A T 1: 194,840,977 (GRCm39) Y438* probably null Het
Ctnnbl1 T A 2: 157,648,623 (GRCm39) V198E probably damaging Het
Fam117b C T 1: 60,018,456 (GRCm39) Q58* probably null Het
Fam171a2 A G 11: 102,330,519 (GRCm39) Y288H probably damaging Het
Fam186a A T 15: 99,840,472 (GRCm39) I1924K possibly damaging Het
Fat3 T A 9: 15,909,421 (GRCm39) I2194F probably benign Het
Flg2 T C 3: 93,109,591 (GRCm39) S540P unknown Het
Gbp9 T C 5: 105,231,695 (GRCm39) Y297C Het
Gck T G 11: 5,854,377 (GRCm39) N283H possibly damaging Het
Gm13941 A T 2: 110,935,146 (GRCm39) L28Q unknown Het
Gpr155 A G 2: 73,204,109 (GRCm39) I235T possibly damaging Het
Junb A C 8: 85,704,052 (GRCm39) L336R probably damaging Het
Krt14 A T 11: 100,095,904 (GRCm39) M218K probably benign Het
Leprotl1 A G 8: 34,604,967 (GRCm39) V102A probably benign Het
Lrrc8d T C 5: 105,961,908 (GRCm39) F773L probably damaging Het
Mad2l1bp G A 17: 46,458,958 (GRCm39) R191C probably damaging Het
Man1c1 C T 4: 134,311,705 (GRCm39) V274M possibly damaging Het
Mtor C A 4: 148,637,198 (GRCm39) P2466T probably benign Het
Mycbpap C A 11: 94,398,032 (GRCm39) probably benign Het
Myef2l G A 3: 10,153,593 (GRCm39) V121M probably damaging Het
Myo18b T C 5: 112,975,862 (GRCm39) E1329G probably damaging Het
Nipbl A T 15: 8,380,340 (GRCm39) D817E probably benign Het
Nthl1 C T 17: 24,853,753 (GRCm39) Q133* probably null Het
Nup133 A G 8: 124,660,155 (GRCm39) M381T probably benign Het
Or13c7 T C 4: 43,854,602 (GRCm39) C98R probably damaging Het
Or2j3 T C 17: 38,615,654 (GRCm39) T233A probably benign Het
Or51t4 T C 7: 102,598,527 (GRCm39) I285T possibly damaging Het
Or7e175 T C 9: 20,048,633 (GRCm39) Y74H probably damaging Het
Or7g20 T C 9: 18,946,773 (GRCm39) M118T probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Pmm1 C T 15: 81,839,896 (GRCm39) R143H probably damaging Het
Pmpcb A T 5: 21,961,608 (GRCm39) I422F probably damaging Het
Prpf8 T A 11: 75,380,589 (GRCm39) H97Q possibly damaging Het
Psat1 A G 19: 15,898,332 (GRCm39) L30P probably damaging Het
Rag1 T C 2: 101,472,820 (GRCm39) D774G probably damaging Het
Rag1 C T 2: 101,475,137 (GRCm39) A2T probably benign Het
Rccd1 G T 7: 79,970,728 (GRCm39) F17L probably damaging Het
Rhobtb1 T A 10: 69,106,579 (GRCm39) D443E probably damaging Het
Rnf13 A G 3: 57,709,866 (GRCm39) probably null Het
Ryr2 A G 13: 11,587,185 (GRCm39) S4699P possibly damaging Het
Scart1 A G 7: 139,808,277 (GRCm39) T754A probably benign Het
Sdc3 T C 4: 130,546,352 (GRCm39) V237A probably benign Het
Serinc5 T A 13: 92,797,514 (GRCm39) probably benign Het
Sertad4 A G 1: 192,528,973 (GRCm39) I281T probably benign Het
Shroom1 T C 11: 53,354,490 (GRCm39) S137P probably damaging Het
Slurp1 C T 15: 74,599,450 (GRCm39) G20D probably damaging Het
Sncb T A 13: 54,910,512 (GRCm39) N75Y probably damaging Het
Spag8 C T 4: 43,653,231 (GRCm39) G77S unknown Het
Spink14 A T 18: 44,164,059 (GRCm39) I76F probably damaging Het
Srfbp1 A T 18: 52,623,102 (GRCm39) E372D possibly damaging Het
Synpo A T 18: 60,735,599 (GRCm39) N782K probably damaging Het
Syt7 T C 19: 10,421,373 (GRCm39) M519T probably damaging Het
Tlr5 C T 1: 182,802,160 (GRCm39) P488L probably benign Het
Tmod3 A T 9: 75,412,202 (GRCm39) I315N probably damaging Het
Ttc12 T C 9: 49,364,757 (GRCm39) M340V probably benign Het
Ttn T A 2: 76,710,959 (GRCm39) I8392F unknown Het
Ttn A G 2: 76,769,232 (GRCm39) V2822A unknown Het
Ube3b C T 5: 114,542,837 (GRCm39) probably benign Het
Ubr4 C A 4: 139,145,785 (GRCm39) N238K Het
Vmn2r12 T C 5: 109,233,885 (GRCm39) T776A probably damaging Het
Vps50 G A 6: 3,588,091 (GRCm39) probably benign Het
Vwa3a A G 7: 120,366,470 (GRCm39) D165G Het
Wdr17 T A 8: 55,114,605 (GRCm39) H644L probably damaging Het
Zfp628 T C 7: 4,924,202 (GRCm39) V808A probably benign Het
Zscan21 T A 5: 138,123,937 (GRCm39) D205E probably 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
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
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'- TGTGTGGCAGCTAATAGACAG -3'
(R):5'- TGCAGCTTTCCATCACAGGC -3'

Sequencing Primer
(F):5'- TGTGGCAGCTAATAGACAGTAAGGTG -3'
(R):5'- ATCACAGGCTTCTCTTTACGTTAC -3'
Posted On 2021-12-30