Incidental Mutation 'R6930:Zic2'
ID 539975
Institutional Source Beutler Lab
Gene Symbol Zic2
Ensembl Gene ENSMUSG00000061524
Gene Name zinc finger protein of the cerebellum 2
Synonyms odd-paired homolog, GENA 29, Ku
MMRRC Submission 045046-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.899) question?
Stock # R6930 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 122712847-122717264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 122713869 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 261 (D261V)
Ref Sequence ENSEMBL: ENSMUSP00000075283 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000075888]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000075888
AA Change: D261V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000075283
Gene: ENSMUSG00000061524
AA Change: D261V

DomainStartEndE-ValueType
low complexity region 18 33 N/A INTRINSIC
low complexity region 81 103 N/A INTRINSIC
low complexity region 131 150 N/A INTRINSIC
low complexity region 215 241 N/A INTRINSIC
ZnF_C2H2 265 290 5.68e1 SMART
ZnF_C2H2 299 326 6.92e0 SMART
ZnF_C2H2 332 356 8.02e-5 SMART
ZnF_C2H2 362 386 1.69e-3 SMART
ZnF_C2H2 392 414 4.54e-4 SMART
low complexity region 416 434 N/A INTRINSIC
low complexity region 455 519 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 96.5%
Validation Efficiency 100% (63/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This protein functions as a transcriptional repressor and may regulate tissue specific expression of dopamine receptor D1. Expansion of an alanine repeat in the C-terminus of the encoded protein and other mutations in this gene cause holoprosencephaly type 5. Holoprosencephaly is the most common structural anomaly of the human brain. A polyhistidine tract polymorphism in this gene may be associated with increased risk of neural tube defects. This gene is closely linked to a gene encoding zinc finger protein of the cerebellum 5, a related family member on chromosome 13. [provided by RefSeq, Jul 2016]
PHENOTYPE: Defects in neurulation and forebrain development have been identified in both targeted and ENU induced homozygous mutants. Death occurs perinatally in the targeted mouse and during midgestation in the ENU mouse. Mice homozygous for a knock-down allele exhibit cognitive and social behavior defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik A T 11: 23,466,563 (GRCm39) D156E probably benign Het
Adam17 A T 12: 21,403,949 (GRCm39) V99E probably damaging Het
Akr1e1 T C 13: 4,652,714 (GRCm39) D41G probably damaging Het
Alcam T C 16: 52,126,018 (GRCm39) I100V probably benign Het
Atr T C 9: 95,748,688 (GRCm39) I411T probably benign Het
Bbs4 T C 9: 59,230,764 (GRCm39) S453G probably benign Het
Brdt C T 5: 107,507,081 (GRCm39) L494F probably benign Het
Ccser1 T C 6: 62,357,009 (GRCm39) S816P probably benign Het
Cdk10 T C 8: 123,957,347 (GRCm39) I157T probably damaging Het
Ceacam5 G A 7: 17,484,759 (GRCm39) probably null Het
Chst15 T C 7: 131,870,759 (GRCm39) I259V possibly damaging Het
Cracdl A T 1: 37,664,026 (GRCm39) I624N possibly damaging Het
Csmd1 A T 8: 16,142,409 (GRCm39) M1498K probably damaging Het
D630045J12Rik T C 6: 38,135,151 (GRCm39) D1343G probably damaging Het
Denr T C 5: 124,046,250 (GRCm39) Y27H probably benign Het
Dop1a T C 9: 86,413,825 (GRCm39) probably null Het
Epg5 T C 18: 78,057,378 (GRCm39) F1819S probably damaging Het
Flg2 T A 3: 93,108,642 (GRCm39) Y223* probably null Het
Fry T C 5: 150,351,695 (GRCm39) L1733P probably benign Het
Gabrb2 T C 11: 42,488,440 (GRCm39) V302A probably damaging Het
Gimap9 G A 6: 48,654,601 (GRCm39) D53N probably damaging Het
Gje1 G T 10: 14,593,886 (GRCm39) L3I possibly damaging Het
Gm49383 G T 12: 69,239,586 (GRCm39) A645E probably damaging Het
Gm8947 G A 1: 151,068,347 (GRCm39) G60D probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gys2 A G 6: 142,405,106 (GRCm39) probably null Het
Hace1 A G 10: 45,494,598 (GRCm39) H136R probably damaging Het
Herc3 T G 6: 58,893,444 (GRCm39) V902G probably damaging Het
Hspbp1 T C 7: 4,687,606 (GRCm39) R2G probably benign Het
Iqch T A 9: 63,387,856 (GRCm39) K811N possibly damaging Het
Kmt2a A G 9: 44,753,962 (GRCm39) probably benign Het
Lonrf2 A T 1: 38,843,417 (GRCm39) V372D probably benign Het
Lpin2 T C 17: 71,551,786 (GRCm39) Y729H probably damaging Het
Lrrc32 A G 7: 98,148,471 (GRCm39) N417S possibly damaging Het
Malrd1 T A 2: 15,802,478 (GRCm39) C1064S unknown Het
Mast3 G A 8: 71,252,115 (GRCm39) R20* probably null Het
Mypn A C 10: 62,952,718 (GRCm39) I174S probably damaging Het
Nrg1 G A 8: 32,308,534 (GRCm39) T505M probably damaging Het
Or13p8 A G 4: 118,584,338 (GRCm39) K298R probably damaging Het
Or6y1 A G 1: 174,276,677 (GRCm39) I163V probably damaging Het
Or7a42 A G 10: 78,791,615 (GRCm39) D192G possibly damaging Het
Or7e178 A G 9: 20,225,395 (GRCm39) Y266H probably damaging Het
Phf3 T C 1: 30,850,958 (GRCm39) E1132G probably damaging Het
Pla2g4d A T 2: 120,101,114 (GRCm39) M521K probably damaging Het
Plekhg1 A G 10: 3,913,770 (GRCm39) H1164R possibly damaging Het
Plxnb2 A G 15: 89,044,592 (GRCm39) V1218A probably benign Het
Pold1 A G 7: 44,191,630 (GRCm39) S119P probably benign Het
Pole T A 5: 110,441,156 (GRCm39) D203E probably benign Het
Rapgefl1 T A 11: 98,737,947 (GRCm39) L387Q probably damaging Het
Rbm33 T C 5: 28,557,504 (GRCm39) I199T probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Rufy1 C A 11: 50,289,207 (GRCm39) R545L probably benign Het
Ryr3 T A 2: 112,690,699 (GRCm39) D1117V probably damaging Het
Sap130 T C 18: 31,815,141 (GRCm39) V621A possibly damaging Het
Sparcl1 T A 5: 104,234,940 (GRCm39) Y525F probably damaging Het
Spon2 A G 5: 33,373,771 (GRCm39) V180A probably benign Het
Trav10n G A 14: 53,359,947 (GRCm39) V75M probably benign Het
Ttc34 T C 4: 154,923,543 (GRCm39) L84P probably damaging Het
Vmn1r23 C T 6: 57,903,130 (GRCm39) R216K probably benign Het
Vmn2r61 A G 7: 41,949,364 (GRCm39) T595A probably benign Het
Vmn2r66 T A 7: 84,661,216 (GRCm39) I5F possibly damaging Het
Zfp879 C T 11: 50,723,839 (GRCm39) G406R probably damaging Het
Other mutations in Zic2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00816:Zic2 APN 14 122,715,971 (GRCm39) nonsense probably null
IGL01607:Zic2 APN 14 122,716,294 (GRCm39) splice site probably benign
IGL02307:Zic2 APN 14 122,714,046 (GRCm39) missense possibly damaging 0.76
IGL02311:Zic2 APN 14 122,713,606 (GRCm39) missense probably damaging 0.99
IGL02561:Zic2 APN 14 122,715,957 (GRCm39) nonsense probably null
IGL02982:Zic2 APN 14 122,715,979 (GRCm39) missense probably damaging 0.98
R0001:Zic2 UTSW 14 122,716,369 (GRCm39) missense probably damaging 0.99
R0027:Zic2 UTSW 14 122,713,755 (GRCm39) missense possibly damaging 0.77
R0136:Zic2 UTSW 14 122,713,953 (GRCm39) missense probably damaging 0.96
R0310:Zic2 UTSW 14 122,713,776 (GRCm39) small deletion probably benign
R0418:Zic2 UTSW 14 122,713,776 (GRCm39) small deletion probably benign
R0420:Zic2 UTSW 14 122,713,776 (GRCm39) small deletion probably benign
R0421:Zic2 UTSW 14 122,713,776 (GRCm39) small deletion probably benign
R0518:Zic2 UTSW 14 122,713,776 (GRCm39) small deletion probably benign
R0520:Zic2 UTSW 14 122,713,776 (GRCm39) small deletion probably benign
R0521:Zic2 UTSW 14 122,713,776 (GRCm39) small deletion probably benign
R0628:Zic2 UTSW 14 122,713,776 (GRCm39) small deletion probably benign
R1733:Zic2 UTSW 14 122,716,359 (GRCm39) missense probably damaging 0.97
R1757:Zic2 UTSW 14 122,716,031 (GRCm39) missense possibly damaging 0.86
R2398:Zic2 UTSW 14 122,716,329 (GRCm39) nonsense probably null
R5323:Zic2 UTSW 14 122,713,728 (GRCm39) missense probably damaging 1.00
R5381:Zic2 UTSW 14 122,713,227 (GRCm39) missense probably damaging 0.97
R7223:Zic2 UTSW 14 122,713,503 (GRCm39) missense probably damaging 0.98
R8750:Zic2 UTSW 14 122,714,129 (GRCm39) missense probably benign 0.06
R8852:Zic2 UTSW 14 122,713,530 (GRCm39) missense possibly damaging 0.92
R8860:Zic2 UTSW 14 122,713,530 (GRCm39) missense possibly damaging 0.92
Z1088:Zic2 UTSW 14 122,716,087 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- GTGCTCAATGGGCAAATGC -3'
(R):5'- ACCAGTTTGTATTTGGCCTTAAAGG -3'

Sequencing Primer
(F):5'- CGGAGCAATACCGCCAAGTG -3'
(R):5'- TGGCCTTAAAGGGTTTGCC -3'
Posted On 2018-11-06