Incidental Mutation 'R1225:Fancd2'
ID 152865
Institutional Source Beutler Lab
Gene Symbol Fancd2
Ensembl Gene ENSMUSG00000034023
Gene Name Fanconi anemia, complementation group D2
Synonyms 2410150O07Rik
MMRRC Submission 039294-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1225 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 113508643-113573978 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113512822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 53 (S53P)
Ref Sequence ENSEMBL: ENSMUSP00000144928 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032425] [ENSMUST00000036340] [ENSMUST00000204827]
AlphaFold Q80V62
Predicted Effect probably benign
Transcript: ENSMUST00000032425
SMART Domains Protein: ENSMUSP00000032425
Gene: ENSMUSG00000030286

DomainStartEndE-ValueType
Pfam:DUF106 5 191 6.2e-57 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000036340
AA Change: S53P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045667
Gene: ENSMUSG00000034023
AA Change: S53P

DomainStartEndE-ValueType
Pfam:FancD2 1 1415 N/A PFAM
low complexity region 1430 1450 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000101051
SMART Domains Protein: ENSMUSP00000098612
Gene: ENSMUSG00000034023

DomainStartEndE-ValueType
Pfam:FancD2 1 129 1.3e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203526
Predicted Effect probably damaging
Transcript: ENSMUST00000204827
AA Change: S53P

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144928
Gene: ENSMUSG00000034023
AA Change: S53P

DomainStartEndE-ValueType
Pfam:FancD2 1 1402 N/A PFAM
low complexity region 1417 1437 N/A INTRINSIC
Meta Mutation Damage Score 0.3399 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 100% (43/43)
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730013G03Rik T A 1: 192,515,953 (GRCm39) noncoding transcript Het
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Ahnak T A 19: 8,980,247 (GRCm39) D510E probably damaging Het
Angptl4 C T 17: 34,000,165 (GRCm39) A68T possibly damaging Het
Arid1a A G 4: 133,414,676 (GRCm39) V1185A unknown Het
Atp2c2 C A 8: 120,461,984 (GRCm39) Q286K probably damaging Het
Blzf1 T C 1: 164,127,165 (GRCm39) E209G probably damaging Het
Bmp6 A G 13: 38,530,257 (GRCm39) T117A probably benign Het
Cmip T C 8: 118,172,110 (GRCm39) F394L probably damaging Het
Col6a3 T A 1: 90,739,238 (GRCm39) D330V probably damaging Het
Crebbp A T 16: 3,944,820 (GRCm39) S491R probably benign Het
Dedd G A 1: 171,167,863 (GRCm39) probably null Het
Dennd4a A G 9: 64,818,957 (GRCm39) H1704R probably benign Het
Dicer1 C T 12: 104,657,866 (GRCm39) V1903I probably damaging Het
Dnah9 A G 11: 65,761,886 (GRCm39) V3868A possibly damaging Het
Eif5b A G 1: 38,076,709 (GRCm39) I674V probably damaging Het
F13a1 T C 13: 37,209,825 (GRCm39) N47D probably benign Het
Fsip1 C A 2: 118,078,831 (GRCm39) L170F probably damaging Het
Git2 A T 5: 114,871,239 (GRCm39) probably benign Het
Gm9742 T C 13: 8,079,875 (GRCm39) noncoding transcript Het
Heatr4 C T 12: 84,024,820 (GRCm39) E334K probably benign Het
Hoga1 T G 19: 42,058,628 (GRCm39) V110G probably damaging Het
Ighv6-4 T A 12: 114,370,170 (GRCm39) D75V probably damaging Het
Inhca A T 9: 103,132,038 (GRCm39) probably benign Het
Med15 G T 16: 17,540,652 (GRCm39) S31R probably damaging Het
Nbeal2 T C 9: 110,461,954 (GRCm39) E1467G probably damaging Het
Or2ag1 A T 7: 106,313,731 (GRCm39) D52E probably benign Het
Or2t6 T A 14: 14,175,600 (GRCm38) I161F possibly damaging Het
Or5ac19 T C 16: 59,089,587 (GRCm39) T148A probably benign Het
Papss1 T C 3: 131,285,062 (GRCm39) probably benign Het
Pde4d A T 13: 110,086,755 (GRCm39) M610L probably benign Het
Prickle4 T G 17: 47,999,614 (GRCm39) probably null Het
Sema3g A G 14: 30,942,636 (GRCm39) Y79C probably damaging Het
Setbp1 T A 18: 78,901,423 (GRCm39) D748V probably damaging Het
Slc46a2 A T 4: 59,914,125 (GRCm39) V266E probably benign Het
Slc9a8 T C 2: 167,313,443 (GRCm39) I435T probably benign Het
Snx29 T C 16: 11,238,550 (GRCm39) probably benign Het
Son C T 16: 91,454,228 (GRCm39) R992C probably damaging Het
Stxbp5 T C 10: 9,688,135 (GRCm39) N389D possibly damaging Het
Vmn1r28 C T 6: 58,242,951 (GRCm39) Q265* 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
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
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'- TCTTCAGGAACACAGCAGATGGC -3'
(R):5'- TCATAAGCAGTTTCTACAGAGCGGC -3'

Sequencing Primer
(F):5'- ATGGCCTCTCAGAACATTTGGAC -3'
(R):5'- TTCTACAGAGCGGCCTCAC -3'
Posted On 2014-01-29