Incidental Mutation 'IGL01511:Gucy2f'
ID 89213
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy2f
Ensembl Gene ENSMUSG00000042282
Gene Name guanylate cyclase 2f
Synonyms GC2, GC-F
Accession Numbers
Essential gene? Not available question?
Stock # IGL01511
Quality Score
Status
Chromosome X
Chromosomal Location 140864156-140979927 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 140944730 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 410 (D410E)
Ref Sequence ENSEMBL: ENSMUSP00000044521 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042530]
AlphaFold Q5SDA5
Predicted Effect probably damaging
Transcript: ENSMUST00000042530
AA Change: D410E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000044521
Gene: ENSMUSG00000042282
AA Change: D410E

DomainStartEndE-ValueType
low complexity region 33 52 N/A INTRINSIC
Pfam:ANF_receptor 72 412 4.9e-58 PFAM
transmembrane domain 468 490 N/A INTRINSIC
Pfam:Pkinase 568 809 3.7e-27 PFAM
Pfam:Pkinase_Tyr 583 809 9.8e-38 PFAM
CYCc 848 1043 1.4e-105 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retinal rod electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,135,136 (GRCm39) D216E probably benign Het
Abcc4 C A 14: 118,836,753 (GRCm39) L669F probably benign Het
Adam29 C T 8: 56,324,456 (GRCm39) G666D probably damaging Het
Adat2 T G 10: 13,435,982 (GRCm39) M109R probably null Het
Atf3 T A 1: 190,903,693 (GRCm39) T178S probably benign Het
Birc6 T A 17: 74,933,998 (GRCm39) Y2522* probably null Het
Ccr8 G A 9: 119,923,691 (GRCm39) G269R probably damaging Het
Ces1a G T 8: 93,771,726 (GRCm39) P24T probably damaging Het
Chrna4 C T 2: 180,670,461 (GRCm39) V432I probably benign Het
Commd8 A G 5: 72,322,722 (GRCm39) V65A probably benign Het
Cyp2j13 A G 4: 95,965,552 (GRCm39) F52L possibly damaging Het
Desi1 T A 15: 81,886,789 (GRCm39) K45* probably null Het
Dmbt1 T A 7: 130,718,457 (GRCm39) M1552K possibly damaging Het
Dna2 G A 10: 62,791,093 (GRCm39) M197I possibly damaging Het
Dnah7a A C 1: 53,458,754 (GRCm39) L3795V probably damaging Het
Dnai4 T C 4: 102,905,558 (GRCm39) D741G possibly damaging Het
Fam221b T C 4: 43,660,135 (GRCm39) probably null Het
Fbxw18 A T 9: 109,517,889 (GRCm39) S366T possibly damaging Het
Fzd8 A G 18: 9,213,293 (GRCm39) Y125C unknown Het
Gcsam T C 16: 45,436,315 (GRCm39) Y11H probably damaging Het
Hdac3 C T 18: 38,085,648 (GRCm39) A53T probably benign Het
Lamp2 A G X: 37,520,752 (GRCm39) L244P probably damaging Het
Lrrk1 A T 7: 65,915,198 (GRCm39) F1630Y possibly damaging Het
M1ap C A 6: 83,005,393 (GRCm39) D434E probably benign Het
Mcmbp A G 7: 128,308,888 (GRCm39) Y378H probably damaging Het
Mvb12a T A 8: 71,997,946 (GRCm39) V120E probably damaging Het
Nbeal2 A C 9: 110,458,302 (GRCm39) W2063G probably damaging Het
Neto1 A C 18: 86,414,033 (GRCm39) H9P possibly damaging Het
Nmu C T 5: 76,488,668 (GRCm39) V126M probably damaging Het
Odf2 T C 2: 29,804,321 (GRCm39) probably benign Het
Or2y15 A G 11: 49,351,043 (GRCm39) E179G probably damaging Het
Pdzrn3 T C 6: 101,130,217 (GRCm39) H533R possibly damaging Het
Pikfyve G T 1: 65,298,028 (GRCm39) E1586* probably null Het
Plcb3 C A 19: 6,933,211 (GRCm39) R970L probably damaging Het
Plxna3 A G X: 73,378,914 (GRCm39) E686G probably damaging Het
Polrmt T A 10: 79,575,985 (GRCm39) Y586F probably benign Het
Ppt1 T A 4: 122,748,218 (GRCm39) F225I probably damaging Het
Prcc T G 3: 87,779,548 (GRCm39) D162A probably damaging Het
Ripor1 T C 8: 106,346,562 (GRCm39) probably benign Het
Rnaseh1 A G 12: 28,709,008 (GRCm39) H263R probably damaging Het
Rnf19b T A 4: 128,974,211 (GRCm39) S490R probably damaging Het
Slc15a2 T A 16: 36,605,088 (GRCm39) T23S probably damaging Het
Slc34a1 T C 13: 24,003,121 (GRCm39) probably null Het
Slc35f4 T C 14: 49,536,334 (GRCm39) M434V probably benign Het
Slc52a3 C T 2: 151,846,564 (GRCm39) T175I probably benign Het
Slc5a2 C T 7: 127,869,794 (GRCm39) T409M probably benign Het
Tbc1d24 A G 17: 24,400,892 (GRCm39) S108P probably benign Het
Thnsl2 T G 6: 71,116,777 (GRCm39) Q125P probably benign Het
Ttc13 T C 8: 125,403,110 (GRCm39) D672G probably damaging Het
Ttn G T 2: 76,584,089 (GRCm39) H14013N possibly damaging Het
Unc5a T C 13: 55,152,629 (GRCm39) F792L probably damaging Het
Vac14 T C 8: 111,439,430 (GRCm39) V669A possibly damaging Het
Vmn1r13 A T 6: 57,187,314 (GRCm39) M158L probably benign Het
Vmn1r220 A T 13: 23,368,384 (GRCm39) V104D probably damaging Het
Zfp738 A T 13: 67,831,520 (GRCm39) probably null Het
Zscan5b A C 7: 6,234,421 (GRCm39) H149P probably benign Het
Other mutations in Gucy2f
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02229:Gucy2f APN X 140,962,984 (GRCm39) missense probably benign
IGL02549:Gucy2f APN X 140,943,200 (GRCm39) missense probably benign
R2274:Gucy2f UTSW X 140,899,269 (GRCm39) missense probably benign 0.06
Posted On 2013-12-03