Incidental Mutation 'IGL02971:Fsd2'
ID365826
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fsd2
Ensembl Gene ENSMUSG00000038663
Gene Namefibronectin type III and SPRY domain containing 2
SynonymsSpryd1, 9830160G03Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02971
Quality Score
Status
Chromosome7
Chromosomal Location81533308-81566944 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 81548923 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 364 (Y364*)
Ref Sequence ENSEMBL: ENSMUSP00000047775 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042318]
Predicted Effect probably null
Transcript: ENSMUST00000042318
AA Change: Y364*
SMART Domains Protein: ENSMUSP00000047775
Gene: ENSMUSG00000038663
AA Change: Y364*

DomainStartEndE-ValueType
low complexity region 102 121 N/A INTRINSIC
coiled coil region 204 231 N/A INTRINSIC
FN3 315 400 7.34e-9 SMART
FN3 412 494 2e-1 SMART
Pfam:PRY 509 558 8.6e-9 PFAM
Pfam:SPRY 564 683 2.8e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the FN3/SPRY family of proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018P22Rik C T 2: 104,123,219 T130I probably benign Het
Ahi1 T C 10: 21,000,551 L787P possibly damaging Het
Atf3 A G 1: 191,177,443 S10P probably benign Het
Cdr2l A G 11: 115,390,900 N77S probably damaging Het
Cnp A G 11: 100,576,699 D156G probably benign Het
Cntn3 A T 6: 102,168,933 D982E probably damaging Het
Col22a1 A G 15: 72,006,738 L190S probably damaging Het
Csmd3 C T 15: 47,913,929 probably benign Het
Dnah5 A G 15: 28,384,461 D3117G probably damaging Het
Dock5 T C 14: 67,757,109 E1834G probably null Het
Eea1 A G 10: 96,041,527 T1368A probably benign Het
Fam83f T C 15: 80,672,149 V78A probably benign Het
Fcgbp G A 7: 28,101,473 V1315I probably damaging Het
Gm21976 G A 13: 98,302,549 G16R probably null Het
Guca2b A G 4: 119,657,688 S59P probably damaging Het
Hars2 A G 18: 36,786,178 E123G probably damaging Het
Hdac2 A T 10: 37,000,374 K462* probably null Het
Huwe1 T A X: 151,927,626 probably benign Het
Iqgap3 T A 3: 88,090,304 N262K probably benign Het
Kat6b A G 14: 21,669,758 S1502G probably damaging Het
Mapkapk3 A T 9: 107,257,080 D328E probably benign Het
Mgea5 A G 19: 45,762,243 F671S probably damaging Het
Naca C T 10: 128,041,568 probably benign Het
Npffr1 T C 10: 61,614,139 V64A probably damaging Het
Olfr331 A G 11: 58,502,385 L57P probably damaging Het
Olfr918 T A 9: 38,673,268 M72L probably damaging Het
Pcca A G 14: 122,889,533 D718G probably damaging Het
Pde6a A C 18: 61,264,255 D670A probably damaging Het
Pramel7 T A 2: 87,490,073 E292V probably benign Het
Prmt9 A C 8: 77,565,069 M357L probably benign Het
Ptgfr A T 3: 151,835,326 S182T probably benign Het
Rtraf A T 14: 19,816,192 M152K possibly damaging Het
Satb1 T C 17: 51,742,689 D579G possibly damaging Het
Serpinb6a A G 13: 33,931,470 probably null Het
Slc5a9 T C 4: 111,890,300 I297V possibly damaging Het
Slf1 T A 13: 77,047,104 probably benign Het
St8sia2 C T 7: 73,966,811 V139M probably damaging Het
Tas2r114 T C 6: 131,689,280 M262V probably benign Het
Tmem147 A G 7: 30,729,422 probably benign Het
Tmem220 A G 11: 67,034,107 probably null Het
Uspl1 A G 5: 149,188,346 N35S possibly damaging Het
Vmn1r170 A T 7: 23,606,334 I54F possibly damaging Het
Vmn2r121 T G X: 124,127,894 I810L probably damaging Het
Wbp2nl A T 15: 82,305,744 T46S possibly damaging Het
Zfp955b T A 17: 33,300,966 M57K probably benign Het
Other mutations in Fsd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01746:Fsd2 APN 7 81553007 missense probably benign 0.15
IGL02012:Fsd2 APN 7 81549914 missense probably benign 0.00
IGL02061:Fsd2 APN 7 81540424 nonsense probably null
IGL03207:Fsd2 APN 7 81559170 missense probably benign 0.28
IGL03344:Fsd2 APN 7 81559909 missense probably benign 0.00
R0142:Fsd2 UTSW 7 81559935 missense probably damaging 0.98
R0540:Fsd2 UTSW 7 81545017 missense probably damaging 1.00
R0607:Fsd2 UTSW 7 81545017 missense probably damaging 1.00
R0846:Fsd2 UTSW 7 81540397 missense probably benign 0.00
R0863:Fsd2 UTSW 7 81542165 missense possibly damaging 0.47
R1172:Fsd2 UTSW 7 81559770 missense probably benign
R1173:Fsd2 UTSW 7 81559770 missense probably benign
R1175:Fsd2 UTSW 7 81559770 missense probably benign
R1438:Fsd2 UTSW 7 81548873 missense probably benign 0.13
R1456:Fsd2 UTSW 7 81559591 nonsense probably null
R1717:Fsd2 UTSW 7 81535109 missense probably benign 0.23
R1987:Fsd2 UTSW 7 81559659 missense possibly damaging 0.89
R2698:Fsd2 UTSW 7 81545860 missense probably damaging 0.99
R4108:Fsd2 UTSW 7 81544967 missense probably benign 0.01
R4165:Fsd2 UTSW 7 81545860 missense probably damaging 0.99
R4335:Fsd2 UTSW 7 81542065 missense probably damaging 0.99
R4570:Fsd2 UTSW 7 81559770 missense probably benign
R4707:Fsd2 UTSW 7 81559680 missense probably damaging 1.00
R4741:Fsd2 UTSW 7 81551895 critical splice donor site probably null
R4863:Fsd2 UTSW 7 81552964 missense probably null 0.91
R5281:Fsd2 UTSW 7 81552985 missense probably benign 0.15
R5898:Fsd2 UTSW 7 81537227 missense probably damaging 1.00
R6812:Fsd2 UTSW 7 81535089 missense probably benign 0.00
R7367:Fsd2 UTSW 7 81535180 missense probably damaging 1.00
R7976:Fsd2 UTSW 7 81559881 missense probably benign 0.00
Z1176:Fsd2 UTSW 7 81553192 missense probably damaging 1.00
Z1177:Fsd2 UTSW 7 81559752 missense probably damaging 0.96
Posted On2015-12-18