Incidental Mutation 'R1852:Znrf3'
ID 208230
Institutional Source Beutler Lab
Gene Symbol Znrf3
Ensembl Gene ENSMUSG00000041961
Gene Name zinc and ring finger 3
Synonyms LOC382477
MMRRC Submission 039876-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1852 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 5226329-5394847 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 5237455 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 218 (I218T)
Ref Sequence ENSEMBL: ENSMUSP00000105493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109867] [ENSMUST00000143746] [ENSMUST00000172492]
AlphaFold Q5SSZ7
PDB Structure mouse ZNRF3 ectodomain crystal form I [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form II [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form III [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form IV [X-RAY DIFFRACTION]
mouse ZNRF3 ectodomain crystal form V, disulfide-bridged S90C variant [X-RAY DIFFRACTION]
Mouse ZNRF3 ectodomain in complex with mouse RSPO2 Fu1-Fu2 crystal form I [X-RAY DIFFRACTION]
Mouse ZNRF3 ectodomain in complex with Xenopus RSPO2 Fu1-Fu2 (Seleno Met) crystal form I [X-RAY DIFFRACTION]
Mouse ZNRF3 ectodomain in complex with Xenopus RSPO2 Fu1-Fu2 (Seleno Met) crystal form II [X-RAY DIFFRACTION]
Structure of ZNRF3 ectodomain [X-RAY DIFFRACTION]
Structure of ZNRF3-RSPO1 [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000109867
AA Change: I218T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105493
Gene: ENSMUSG00000041961
AA Change: I218T

DomainStartEndE-ValueType
signal peptide 1 52 N/A INTRINSIC
PDB:4CDK|D 53 205 1e-103 PDB
transmembrane domain 218 235 N/A INTRINSIC
RING 290 330 1.56e-6 SMART
low complexity region 442 455 N/A INTRINSIC
low complexity region 545 567 N/A INTRINSIC
low complexity region 895 913 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000143746
SMART Domains Protein: ENSMUSP00000122475
Gene: ENSMUSG00000041961

DomainStartEndE-ValueType
signal peptide 1 52 N/A INTRINSIC
PDB:4CDK|D 53 205 1e-111 PDB
low complexity region 209 225 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000172492
AA Change: I122T

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000134698
Gene: ENSMUSG00000041961
AA Change: I122T

DomainStartEndE-ValueType
PDB:4CDK|D 2 109 5e-70 PDB
transmembrane domain 122 139 N/A INTRINSIC
RING 194 234 1.56e-6 SMART
low complexity region 346 359 N/A INTRINSIC
low complexity region 449 471 N/A INTRINSIC
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.0%
  • 20x: 91.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a targeted allele exhibit complete lethality around birth, aphakia, abnormal lens development and defective enural tube closure in some mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 106 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik A G 7: 12,246,629 (GRCm39) probably null Het
4930433I11Rik T A 7: 40,643,037 (GRCm39) D326E probably benign Het
Abca8a T C 11: 109,960,212 (GRCm39) D676G probably damaging Het
Abcb7 T C X: 103,349,005 (GRCm39) M153V probably benign Het
Ablim3 G A 18: 61,982,466 (GRCm39) H160Y probably benign Het
Acsl6 T C 11: 54,251,902 (GRCm39) I683T probably damaging Het
Adgrg5 A T 8: 95,664,428 (GRCm39) Y345F probably damaging Het
Alg6 T G 4: 99,634,599 (GRCm39) F114V probably benign Het
Ank2 A C 3: 126,791,500 (GRCm39) probably null Het
Ankrd24 A T 10: 81,478,775 (GRCm39) probably benign Het
Ano8 T C 8: 71,936,131 (GRCm39) K222E probably damaging Het
Arhgef5 T C 6: 43,252,119 (GRCm39) S957P probably benign Het
Bltp2 A G 11: 78,159,299 (GRCm39) D499G probably damaging Het
Bmpr1b A T 3: 141,563,163 (GRCm39) probably null Het
C3 A G 17: 57,529,823 (GRCm39) V2A probably damaging Het
Capn1 A G 19: 6,059,133 (GRCm39) V276A possibly damaging Het
Ccdc57 T C 11: 120,812,499 (GRCm39) E85G probably damaging Het
Chil3 C T 3: 106,056,117 (GRCm39) probably null Het
Chl1 A T 6: 103,676,120 (GRCm39) probably null Het
Chodl C T 16: 78,738,146 (GRCm39) P38L probably benign Het
Clec4a2 G T 6: 123,116,084 (GRCm39) E124* probably null Het
Cmtr1 T C 17: 29,921,229 (GRCm39) V825A probably benign Het
Cnksr3 T C 10: 7,070,539 (GRCm39) I232V probably benign Het
Cntn1 C T 15: 92,203,021 (GRCm39) R768C probably damaging Het
Col15a1 G T 4: 47,299,278 (GRCm39) probably null Het
Col6a3 T A 1: 90,735,256 (GRCm39) I798F possibly damaging Het
Cpxcr1 T A X: 115,387,758 (GRCm39) L223* probably null Het
Cul1 A G 6: 47,497,764 (GRCm39) N615S probably damaging Het
Cxcr2 A G 1: 74,198,438 (GRCm39) I311V probably benign Het
Cyp2c67 C T 19: 39,605,811 (GRCm39) G362S probably benign Het
D930048N14Rik T A 11: 51,544,692 (GRCm39) probably benign Het
Ddx49 T C 8: 70,753,633 (GRCm39) T79A probably damaging Het
Defb46 T A 8: 19,289,991 (GRCm39) probably null Het
Dnah17 T A 11: 118,012,742 (GRCm39) I145F probably damaging Het
Dock8 A T 19: 25,104,492 (GRCm39) I725F probably benign Het
Dppa4 G A 16: 48,108,247 (GRCm39) A11T probably damaging Het
Enam T A 5: 88,652,324 (GRCm39) S1278T possibly damaging Het
Fndc3a A G 14: 72,794,283 (GRCm39) V829A probably damaging Het
Gatb T G 3: 85,526,184 (GRCm39) L354R probably damaging Het
Gm10787 A T 10: 76,857,711 (GRCm39) noncoding transcript Het
Gsap T A 5: 21,495,543 (GRCm39) probably null Het
Gtf2ird1 T C 5: 134,411,434 (GRCm39) probably null Het
Has3 A T 8: 107,600,711 (GRCm39) I58F probably damaging Het
Haus5 A T 7: 30,357,926 (GRCm39) probably null Het
Hip1r T C 5: 124,129,568 (GRCm39) V169A probably benign Het
Hnf1a T A 5: 115,108,770 (GRCm39) D45V probably damaging Het
Il20ra T A 10: 19,618,767 (GRCm39) Y72N probably damaging Het
Ipo11 A T 13: 106,948,765 (GRCm39) V914E possibly damaging Het
Itpr1 T C 6: 108,363,667 (GRCm39) L763P probably damaging Het
Katnal2 C A 18: 77,103,719 (GRCm39) R104L probably benign Het
Kcng4 G T 8: 120,352,947 (GRCm39) P321Q probably benign Het
Larp4b T C 13: 9,187,339 (GRCm39) probably null Het
Lars1 T C 18: 42,345,673 (GRCm39) N1001S probably benign Het
Lhcgr T A 17: 89,072,604 (GRCm39) I148F probably damaging Het
Lsm10 T A 4: 125,991,756 (GRCm39) S37R possibly damaging Het
Mfsd13a A G 19: 46,360,619 (GRCm39) probably null Het
Mipep T A 14: 61,080,689 (GRCm39) C560* probably null Het
Mme G A 3: 63,235,467 (GRCm39) D172N probably benign Het
Mme A G 3: 63,235,404 (GRCm39) S97G probably benign Het
Mtrex A T 13: 113,009,461 (GRCm39) H979Q probably benign Het
Mx1 A T 16: 97,249,403 (GRCm39) L608Q probably damaging Het
Myt1l T C 12: 29,901,660 (GRCm39) M208T probably benign Het
Neb T C 2: 52,118,554 (GRCm39) I3987V probably damaging Het
Nelfcd A G 2: 174,265,771 (GRCm39) probably null Het
Neto1 T C 18: 86,414,009 (GRCm39) M1T probably null Het
Nom1 T C 5: 29,651,876 (GRCm39) F738S possibly damaging Het
Or10v1 C A 19: 11,874,249 (GRCm39) P288H probably damaging Het
Or4f61 C A 2: 111,922,192 (GRCm39) V285L probably benign Het
Or51h5 C T 7: 102,577,648 (GRCm39) S271L probably damaging Het
Or5b123 C T 19: 13,596,967 (GRCm39) S147F probably damaging Het
Or5w14 T C 2: 87,541,317 (GRCm39) probably null Het
Or6c203 T C 10: 129,010,197 (GRCm39) K231R probably benign Het
Or6f2 T A 7: 139,756,474 (GRCm39) L147* probably null Het
Or9m1b T G 2: 87,836,865 (GRCm39) I86L probably damaging Het
Pak1ip1 A G 13: 41,164,708 (GRCm39) T264A possibly damaging Het
Palb2 G T 7: 121,713,537 (GRCm39) D915E possibly damaging Het
Pank4 T C 4: 155,060,816 (GRCm39) L491P probably damaging Het
Paqr7 T C 4: 134,234,980 (GRCm39) V279A probably benign Het
Pcif1 G A 2: 164,730,386 (GRCm39) R373Q probably damaging Het
Pdgfa T A 5: 138,964,927 (GRCm39) N185I probably benign Het
Plcd4 T C 1: 74,588,520 (GRCm39) V123A possibly damaging Het
Pramel26 T C 4: 143,539,396 (GRCm39) I32M probably benign Het
Prune2 A G 19: 17,176,503 (GRCm39) I154V probably damaging Het
Rac3 T G 11: 120,614,320 (GRCm39) L148R possibly damaging Het
Rapgef6 T A 11: 54,533,637 (GRCm39) D362E probably benign Het
Rbl1 A G 2: 157,016,823 (GRCm39) I592T probably benign Het
Rbl2 A C 8: 91,822,191 (GRCm39) D408A possibly damaging Het
Retreg2 A G 1: 75,123,319 (GRCm39) K416E probably benign Het
Rorb A T 19: 18,939,447 (GRCm39) L234H probably damaging Het
Rpp40 T G 13: 36,080,897 (GRCm39) D279A probably benign Het
Siglec1 C A 2: 130,923,420 (GRCm39) V442L probably damaging Het
Sik3 C G 9: 46,132,387 (GRCm39) H1276Q probably benign Het
Slc25a34 G A 4: 141,349,579 (GRCm39) T192I probably benign Het
Sp140l1 G A 1: 85,062,852 (GRCm39) probably benign Het
Sptbn5 T C 2: 119,902,125 (GRCm39) I126M possibly damaging Het
Strada A G 11: 106,062,047 (GRCm39) V94A possibly damaging Het
Stxbp5 C A 10: 9,688,042 (GRCm39) V420F possibly damaging Het
Tgm1 T C 14: 55,942,398 (GRCm39) Y651C probably damaging Het
Tmem200c T A 17: 69,147,612 (GRCm39) V65E probably damaging Het
Tmem74 A T 15: 43,730,559 (GRCm39) D161E probably benign Het
Trgc3 A T 13: 19,445,261 (GRCm39) M70L probably damaging Het
Vcan T G 13: 89,853,511 (GRCm39) E483A probably damaging Het
Vmn2r124 A G 17: 18,283,436 (GRCm39) T377A probably benign Het
Vmn2r3 A C 3: 64,166,815 (GRCm39) I772S probably damaging Het
Wdfy3 A G 5: 102,063,242 (GRCm39) V1342A probably benign Het
Zfp507 T C 7: 35,487,176 (GRCm39) H764R probably damaging Het
Other mutations in Znrf3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Znrf3 APN 11 5,239,039 (GRCm39) missense probably damaging 1.00
IGL01387:Znrf3 APN 11 5,288,656 (GRCm39) nonsense probably null
IGL02895:Znrf3 APN 11 5,239,085 (GRCm39) missense probably damaging 0.97
R0788:Znrf3 UTSW 11 5,231,320 (GRCm39) missense probably benign 0.04
R1383:Znrf3 UTSW 11 5,231,994 (GRCm39) missense probably damaging 0.96
R1544:Znrf3 UTSW 11 5,239,066 (GRCm39) missense probably damaging 1.00
R1556:Znrf3 UTSW 11 5,231,347 (GRCm39) missense probably benign 0.01
R1586:Znrf3 UTSW 11 5,231,477 (GRCm39) missense probably damaging 1.00
R1864:Znrf3 UTSW 11 5,233,373 (GRCm39) missense possibly damaging 0.95
R1927:Znrf3 UTSW 11 5,231,062 (GRCm39) missense probably benign 0.28
R2353:Znrf3 UTSW 11 5,231,170 (GRCm39) missense probably damaging 1.00
R2884:Znrf3 UTSW 11 5,239,693 (GRCm39) missense probably damaging 1.00
R2885:Znrf3 UTSW 11 5,239,693 (GRCm39) missense probably damaging 1.00
R4021:Znrf3 UTSW 11 5,231,278 (GRCm39) missense possibly damaging 0.68
R4811:Znrf3 UTSW 11 5,237,420 (GRCm39) missense probably benign 0.07
R4935:Znrf3 UTSW 11 5,233,422 (GRCm39) missense probably damaging 1.00
R5218:Znrf3 UTSW 11 5,231,519 (GRCm39) missense possibly damaging 0.95
R5584:Znrf3 UTSW 11 5,236,218 (GRCm39) missense probably damaging 1.00
R5698:Znrf3 UTSW 11 5,239,006 (GRCm39) intron probably benign
R5715:Znrf3 UTSW 11 5,236,239 (GRCm39) missense possibly damaging 0.91
R5900:Znrf3 UTSW 11 5,232,110 (GRCm39) missense probably damaging 0.98
R5988:Znrf3 UTSW 11 5,231,776 (GRCm39) missense probably damaging 1.00
R6253:Znrf3 UTSW 11 5,230,865 (GRCm39) missense probably benign 0.14
R7057:Znrf3 UTSW 11 5,232,442 (GRCm39) missense probably benign 0.00
R7062:Znrf3 UTSW 11 5,231,550 (GRCm39) missense probably damaging 1.00
R7410:Znrf3 UTSW 11 5,238,955 (GRCm39) missense unknown
R7881:Znrf3 UTSW 11 5,394,533 (GRCm39) missense unknown
R9449:Znrf3 UTSW 11 5,288,710 (GRCm39) nonsense probably null
R9468:Znrf3 UTSW 11 5,288,696 (GRCm39) missense probably damaging 0.99
R9522:Znrf3 UTSW 11 5,232,379 (GRCm39) missense probably damaging 1.00
R9648:Znrf3 UTSW 11 5,231,915 (GRCm39) missense probably damaging 1.00
R9683:Znrf3 UTSW 11 5,394,465 (GRCm39) missense possibly damaging 0.59
R9715:Znrf3 UTSW 11 5,232,454 (GRCm39) missense possibly damaging 0.93
Z1177:Znrf3 UTSW 11 5,236,168 (GRCm39) missense possibly damaging 0.94
Predicted Primers PCR Primer
(F):5'- AGGCTGGTCAGATCCCTAAC -3'
(R):5'- ACTGTGCATGTGAGCTTCC -3'

Sequencing Primer
(F):5'- GTAGACTAAGCTGGCCTTGAACTC -3'
(R):5'- ATGTGAGCTTCCTACACACTGAGG -3'
Posted On 2014-06-23