Incidental Mutation 'R6511:Zfp2'
ID 519924
Institutional Source Beutler Lab
Gene Symbol Zfp2
Ensembl Gene ENSMUSG00000049321
Gene Name zinc finger protein 2
Synonyms Fnp-2, 9930007F06Rik, Zfp-2, mkr-2
MMRRC Submission 044639-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R6511 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 50789539-50806992 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50791234 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 270 (C270S)
Ref Sequence ENSEMBL: ENSMUSP00000112079 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109128] [ENSMUST00000109129] [ENSMUST00000116378]
AlphaFold P08043
Predicted Effect probably damaging
Transcript: ENSMUST00000109128
AA Change: C270S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104756
Gene: ENSMUSG00000049321
AA Change: C270S

DomainStartEndE-ValueType
ZnF_C2H2 100 122 4.87e-4 SMART
ZnF_C2H2 128 150 1.04e-3 SMART
ZnF_C2H2 156 178 5.59e-4 SMART
ZnF_C2H2 184 206 3.69e-4 SMART
ZnF_C2H2 212 234 9.08e-4 SMART
ZnF_C2H2 240 262 1.04e-3 SMART
ZnF_C2H2 268 290 1.58e-3 SMART
ZnF_C2H2 296 318 2.27e-4 SMART
ZnF_C2H2 324 346 9.08e-4 SMART
ZnF_C2H2 352 374 1.38e-3 SMART
ZnF_C2H2 380 402 2.43e-4 SMART
ZnF_C2H2 408 430 1.95e-3 SMART
ZnF_C2H2 436 458 2.15e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109129
AA Change: C270S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104757
Gene: ENSMUSG00000049321
AA Change: C270S

DomainStartEndE-ValueType
ZnF_C2H2 100 122 4.87e-4 SMART
ZnF_C2H2 128 150 1.04e-3 SMART
ZnF_C2H2 156 178 5.59e-4 SMART
ZnF_C2H2 184 206 3.69e-4 SMART
ZnF_C2H2 212 234 9.08e-4 SMART
ZnF_C2H2 240 262 1.04e-3 SMART
ZnF_C2H2 268 290 1.58e-3 SMART
ZnF_C2H2 296 318 2.27e-4 SMART
ZnF_C2H2 324 346 9.08e-4 SMART
ZnF_C2H2 352 374 1.38e-3 SMART
ZnF_C2H2 380 402 2.43e-4 SMART
ZnF_C2H2 408 430 1.95e-3 SMART
ZnF_C2H2 436 458 2.15e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000116378
AA Change: C270S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112079
Gene: ENSMUSG00000049321
AA Change: C270S

DomainStartEndE-ValueType
ZnF_C2H2 100 122 4.87e-4 SMART
ZnF_C2H2 128 150 1.04e-3 SMART
ZnF_C2H2 156 178 5.59e-4 SMART
ZnF_C2H2 184 206 3.69e-4 SMART
ZnF_C2H2 212 234 9.08e-4 SMART
ZnF_C2H2 240 262 1.04e-3 SMART
ZnF_C2H2 268 290 1.58e-3 SMART
ZnF_C2H2 296 318 2.27e-4 SMART
ZnF_C2H2 324 346 9.08e-4 SMART
ZnF_C2H2 352 374 1.38e-3 SMART
ZnF_C2H2 380 402 2.43e-4 SMART
ZnF_C2H2 408 430 1.95e-3 SMART
ZnF_C2H2 436 458 2.15e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124748
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150903
Meta Mutation Damage Score 0.8413 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.5%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G A 16: 20,195,344 (GRCm39) H718Y probably damaging Het
Abcc8 G A 7: 45,800,285 (GRCm39) T499I possibly damaging Het
Azin2 C A 4: 128,828,259 (GRCm39) R316L probably damaging Het
Cep85l C T 10: 53,154,188 (GRCm39) V702I probably benign Het
Cfap69 A T 5: 5,667,220 (GRCm39) C442S probably damaging Het
Commd3 G A 2: 18,679,650 (GRCm39) G148R probably benign Het
Cyfip2 T C 11: 46,087,135 (GRCm39) T1252A probably benign Het
Cyp4a30b A T 4: 115,313,905 (GRCm39) D162V probably damaging Het
Exoc3l G T 8: 106,019,887 (GRCm39) T346K probably benign Het
Gas8 T C 8: 124,250,896 (GRCm39) V123A probably benign Het
Hmcn2 T G 2: 31,246,354 (GRCm39) D774E possibly damaging Het
Itga1 G T 13: 115,129,037 (GRCm39) S540R probably damaging Het
Itpr2 T C 6: 146,231,225 (GRCm39) N1145S probably damaging Het
Kcnc2 C T 10: 112,297,972 (GRCm39) probably benign Het
Lrp5 G A 19: 3,702,296 (GRCm39) R174W probably damaging Het
Lrrn4 T G 2: 132,712,246 (GRCm39) S526R probably benign Het
Map3k6 G A 4: 132,975,389 (GRCm39) R708H probably damaging Het
Mefv T C 16: 3,533,810 (GRCm39) T154A probably benign Het
Mrtfb T A 16: 13,197,714 (GRCm39) S66R probably damaging Het
Mtif2 G T 11: 29,486,949 (GRCm39) A320S possibly damaging Het
Nos2 A G 11: 78,846,290 (GRCm39) probably null Het
Or4k15b A G 14: 50,272,266 (GRCm39) L198P probably damaging Het
Or9g4 A G 2: 85,505,184 (GRCm39) S104P possibly damaging Het
Pip5k1c T C 10: 81,146,651 (GRCm39) Y44H probably damaging Het
Ppp1r13b T C 12: 111,798,001 (GRCm39) E972G probably damaging Het
Prdm12 T C 2: 31,530,321 (GRCm39) S71P probably damaging Het
Prkag2 G T 5: 25,305,286 (GRCm39) probably benign Het
Ptprb T C 10: 116,182,725 (GRCm39) L1467P probably damaging Het
Rnf43 G A 11: 87,622,989 (GRCm39) V697I probably benign Het
Rpl7 C A 1: 16,173,889 (GRCm39) A12S probably benign Het
Slc25a54 T G 3: 109,001,572 (GRCm39) I120S possibly damaging Het
Slc41a2 T C 10: 83,119,652 (GRCm39) H370R probably damaging Het
Speer1d A G 5: 11,307,275 (GRCm39) Y51C probably benign Het
Sv2c C T 13: 96,185,033 (GRCm39) V215I probably benign Het
Synpo2l T C 14: 20,712,518 (GRCm39) E34G probably damaging Het
Tubgcp5 T A 7: 55,467,140 (GRCm39) C703* probably null Het
Vmn1r158 T C 7: 22,490,116 (GRCm39) K31R probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Other mutations in Zfp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02093:Zfp2 APN 11 50,791,831 (GRCm39) missense probably benign 0.00
inanes UTSW 11 50,791,234 (GRCm39) missense probably damaging 1.00
R0689:Zfp2 UTSW 11 50,791,734 (GRCm39) missense probably benign 0.00
R1851:Zfp2 UTSW 11 50,791,915 (GRCm39) missense probably benign 0.06
R1938:Zfp2 UTSW 11 50,790,809 (GRCm39) missense possibly damaging 0.61
R2084:Zfp2 UTSW 11 50,791,789 (GRCm39) missense probably benign
R3859:Zfp2 UTSW 11 50,790,923 (GRCm39) missense possibly damaging 0.93
R4899:Zfp2 UTSW 11 50,790,841 (GRCm39) missense probably damaging 1.00
R5294:Zfp2 UTSW 11 50,792,068 (GRCm39) start gained probably benign
R5511:Zfp2 UTSW 11 50,790,851 (GRCm39) missense probably damaging 0.97
R5583:Zfp2 UTSW 11 50,790,984 (GRCm39) missense possibly damaging 0.83
R6358:Zfp2 UTSW 11 50,791,428 (GRCm39) missense probably damaging 0.99
R7290:Zfp2 UTSW 11 50,791,570 (GRCm39) missense probably damaging 1.00
R7740:Zfp2 UTSW 11 50,791,605 (GRCm39) missense probably damaging 1.00
R8534:Zfp2 UTSW 11 50,791,627 (GRCm39) missense possibly damaging 0.73
R8894:Zfp2 UTSW 11 50,791,843 (GRCm39) missense possibly damaging 0.72
R9375:Zfp2 UTSW 11 50,791,042 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCTTTTCCACACTGATTGCA -3'
(R):5'- GGCAGAGTTCATCCCTGCTT -3'

Sequencing Primer
(F):5'- GCATTCAAAAGGTTTCACTCCGGAG -3'
(R):5'- CCCTACAAATGTCATGAGTGTGG -3'
Posted On 2018-06-06