Incidental Mutation 'R2057:Fzd2'
ID 228285
Institutional Source Beutler Lab
Gene Symbol Fzd2
Ensembl Gene ENSMUSG00000050288
Gene Name frizzled class receptor 2
Synonyms Fz10, Mfz10a, Mfz10
MMRRC Submission 040062-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.737) question?
Stock # R2057 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 102495257-102498884 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 102496759 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 401 (D401G)
Ref Sequence ENSEMBL: ENSMUSP00000091463 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057893]
AlphaFold Q9JIP6
Predicted Effect probably damaging
Transcript: ENSMUST00000057893
AA Change: D401G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000091463
Gene: ENSMUSG00000050288
AA Change: D401G

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
FRI 43 160 7.47e-74 SMART
low complexity region 176 195 N/A INTRINSIC
Frizzled 239 563 3.32e-218 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene is a member of the frizzled gene family. Members of this family encode seven-transmembrane domain proteins that are receptors for the wingless type MMTV integration site family of signaling proteins. This gene encodes a protein that is coupled to the beta-catenin canonical signaling pathway. Competition between the wingless-type MMTV integration site family, member 3A and wingless-type MMTV integration site family, member 5A gene products for binding of this protein is thought to regulate the beta-catenin-dependent and -independent pathways. [provided by RefSeq, Dec 2010]
PHENOTYPE: About 50% of mice homozygous for a reporter allele display a cleft palate and die as neonates; the remaining 50% survive exhibiting a variable degree of postnatal runting and reduced olfactory sensitivity to various odorants. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A G 19: 43,806,477 (GRCm39) K764E probably damaging Het
Abcg2 T C 6: 58,667,525 (GRCm39) V129A probably benign Het
Adgrf5 A G 17: 43,739,477 (GRCm39) Y72C possibly damaging Het
Ago1 C T 4: 126,337,021 (GRCm39) R228H probably damaging Het
Ano1 A G 7: 144,201,789 (GRCm39) V334A probably damaging Het
Apob A T 12: 8,052,164 (GRCm39) R1202* probably null Het
Arfgap3 G T 15: 83,194,501 (GRCm39) D389E probably benign Het
Atf6b A T 17: 34,867,549 (GRCm39) probably null Het
Atoh8 T C 6: 72,212,112 (GRCm39) K13E probably damaging Het
Bicral G T 17: 47,135,814 (GRCm39) N465K possibly damaging Het
Bves T A 10: 45,219,231 (GRCm39) Y110N probably damaging Het
C4b A G 17: 34,947,594 (GRCm39) Y1695H probably damaging Het
Cage1 A G 13: 38,207,356 (GRCm39) V163A probably benign Het
Canx T C 11: 50,195,252 (GRCm39) N272S probably damaging Het
Caskin1 G T 17: 24,715,433 (GRCm39) G93V probably damaging Het
Cd34 T C 1: 194,641,450 (GRCm39) V292A probably damaging Het
Cd84 A G 1: 171,700,317 (GRCm39) T145A possibly damaging Het
Cdh16 C A 8: 105,348,597 (GRCm39) G144* probably null Het
Chaf1b T A 16: 93,691,795 (GRCm39) H280Q probably damaging Het
Chpf2 G A 5: 24,796,220 (GRCm39) G389R probably damaging Het
Crb1 T C 1: 139,242,488 (GRCm39) Y330C probably damaging Het
Cux2 A T 5: 122,007,567 (GRCm39) V698E probably benign Het
Dhtkd1 A G 2: 5,947,430 (GRCm39) V18A unknown Het
Dmbt1 G A 7: 130,707,900 (GRCm39) A1381T possibly damaging Het
Enpp1 C G 10: 24,536,090 (GRCm39) A437P probably damaging Het
Fat2 C T 11: 55,172,686 (GRCm39) V2676I possibly damaging Het
Gcm2 T C 13: 41,263,430 (GRCm39) M1V probably null Het
Gnai3 C T 3: 108,019,812 (GRCm39) V233I probably benign Het
Golim4 T A 3: 75,802,194 (GRCm39) D366V possibly damaging Het
Grin1 T A 2: 25,206,832 (GRCm39) T110S probably damaging Het
Grin2a A G 16: 9,487,608 (GRCm39) V430A probably benign Het
Gstp3 G A 19: 4,109,282 (GRCm39) T5I probably damaging Het
Il17rb T A 14: 29,719,111 (GRCm39) M324L probably benign Het
Jmy A G 13: 93,596,211 (GRCm39) Y473H probably damaging Het
Khdc1b A G 1: 21,454,534 (GRCm39) D79G probably benign Het
Kremen2 T C 17: 23,961,691 (GRCm39) E272G possibly damaging Het
Lmo7 G C 14: 102,124,614 (GRCm39) A358P probably damaging Het
Mdh1b T C 1: 63,760,741 (GRCm39) I107V probably benign Het
Mlkl T C 8: 112,060,242 (GRCm39) Q48R probably benign Het
Myh2 G A 11: 67,079,665 (GRCm39) probably null Het
Naip1 T A 13: 100,562,081 (GRCm39) Q1028L probably damaging Het
Ncald T A 15: 37,397,423 (GRCm39) I86F possibly damaging Het
Nid1 A C 13: 13,675,058 (GRCm39) H926P probably benign Het
Nlrp9a T A 7: 26,256,787 (GRCm39) I46K possibly damaging Het
Or1p1 A G 11: 74,179,652 (GRCm39) Y60C probably damaging Het
Or9r3 A T 10: 129,947,859 (GRCm39) S267T probably benign Het
Pak1 T A 7: 97,557,004 (GRCm39) probably null Het
Parpbp T A 10: 87,960,824 (GRCm39) M221L probably benign Het
Pde12 T C 14: 26,390,035 (GRCm39) I225V probably benign Het
Phf19 G T 2: 34,789,620 (GRCm39) R367S probably benign Het
Plcl2 A G 17: 50,975,139 (GRCm39) probably null Het
Plxnb1 A T 9: 108,938,294 (GRCm39) I1283F possibly damaging Het
Pramel6 T A 2: 87,339,059 (GRCm39) N86K possibly damaging Het
Prkdc A G 16: 15,545,469 (GRCm39) T1862A probably benign Het
Prpf40a A T 2: 53,034,851 (GRCm39) I779K probably damaging Het
Prss3b G A 6: 41,009,315 (GRCm39) T173I probably benign Het
Ptpn20 A T 14: 33,352,942 (GRCm39) E227V probably damaging Het
Rad54b C T 4: 11,606,088 (GRCm39) R499C probably benign Het
Rarg C A 15: 102,147,939 (GRCm39) A291S probably damaging Het
Rnf169 A T 7: 99,574,615 (GRCm39) L660Q probably damaging Het
Scn4a A G 11: 106,226,550 (GRCm39) V670A probably damaging Het
Serpinb9c A T 13: 33,340,854 (GRCm39) C81* probably null Het
Sik1 A G 17: 32,067,771 (GRCm39) S435P probably benign Het
Slc35g2 G A 9: 100,435,329 (GRCm39) A114V probably damaging Het
Slc7a14 A T 3: 31,291,645 (GRCm39) V211E probably damaging Het
Snrpn A T 7: 59,637,204 (GRCm39) H37Q possibly damaging Het
Spock3 T A 8: 63,698,204 (GRCm39) C185* probably null Het
Tbc1d4 A G 14: 101,714,591 (GRCm39) S627P probably damaging Het
Tgoln1 T C 6: 72,592,653 (GRCm39) T276A probably benign Het
Tmem176b G A 6: 48,813,267 (GRCm39) T64I probably damaging Het
Tnpo2 T C 8: 85,776,742 (GRCm39) L483P probably damaging Het
Tpte T A 8: 22,808,355 (GRCm39) D163E probably benign Het
Trim36 A T 18: 46,329,229 (GRCm39) D70E probably benign Het
Umodl1 G A 17: 31,227,740 (GRCm39) probably null Het
Wdr90 T C 17: 26,074,173 (GRCm39) T691A probably benign Het
Zdhhc8 A G 16: 18,046,210 (GRCm39) S118P probably damaging Het
Zfp438 T C 18: 5,214,085 (GRCm39) E291G probably benign Het
Zfp879 C T 11: 50,723,428 (GRCm39) E543K probably benign Het
Other mutations in Fzd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01667:Fzd2 APN 11 102,496,608 (GRCm39) missense possibly damaging 0.94
IGL02034:Fzd2 APN 11 102,495,730 (GRCm39) missense probably damaging 1.00
IGL02035:Fzd2 APN 11 102,497,270 (GRCm39) makesense probably null
frowzy UTSW 11 102,495,955 (GRCm39) missense probably damaging 1.00
PIT4585001:Fzd2 UTSW 11 102,496,573 (GRCm39) missense probably damaging 0.99
R0201:Fzd2 UTSW 11 102,496,948 (GRCm39) missense probably damaging 1.00
R1146:Fzd2 UTSW 11 102,496,206 (GRCm39) missense possibly damaging 0.76
R1146:Fzd2 UTSW 11 102,496,206 (GRCm39) missense possibly damaging 0.76
R1530:Fzd2 UTSW 11 102,496,134 (GRCm39) missense probably benign 0.00
R1589:Fzd2 UTSW 11 102,497,154 (GRCm39) missense probably benign 0.06
R1676:Fzd2 UTSW 11 102,496,707 (GRCm39) missense probably damaging 1.00
R2219:Fzd2 UTSW 11 102,496,249 (GRCm39) missense probably benign 0.01
R2410:Fzd2 UTSW 11 102,496,453 (GRCm39) missense possibly damaging 0.71
R5058:Fzd2 UTSW 11 102,495,633 (GRCm39) missense probably damaging 0.99
R5296:Fzd2 UTSW 11 102,496,981 (GRCm39) missense probably damaging 0.96
R5580:Fzd2 UTSW 11 102,496,665 (GRCm39) missense probably damaging 0.99
R5788:Fzd2 UTSW 11 102,496,293 (GRCm39) missense probably benign 0.03
R6104:Fzd2 UTSW 11 102,497,161 (GRCm39) missense probably damaging 1.00
R6452:Fzd2 UTSW 11 102,495,811 (GRCm39) missense probably damaging 1.00
R7454:Fzd2 UTSW 11 102,495,955 (GRCm39) missense probably damaging 1.00
R7774:Fzd2 UTSW 11 102,496,314 (GRCm39) missense possibly damaging 0.88
R9129:Fzd2 UTSW 11 102,496,465 (GRCm39) missense probably benign 0.06
R9246:Fzd2 UTSW 11 102,496,749 (GRCm39) missense possibly damaging 0.94
R9631:Fzd2 UTSW 11 102,496,916 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ACTTCTTCAGCATGGCCAGC -3'
(R):5'- CTCATAGAAGTAGCAGGCGATG -3'

Sequencing Primer
(F):5'- AGCATGGCCAGCTCCATCTG -3'
(R):5'- TACCGTGTAGAGCACCGAG -3'
Posted On 2014-09-17