Incidental Mutation 'IGL01626:Gucy2e'
ID92752
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy2e
Ensembl Gene ENSMUSG00000020890
Gene Nameguanylate cyclase 2e
SynonymsGC1, GC-E, ROS-GC1
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.324) question?
Stock #IGL01626
Quality Score
Status
Chromosome11
Chromosomal Location69218117-69237036 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 69232855 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 406 (V406A)
Ref Sequence ENSEMBL: ENSMUSP00000104305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021259] [ENSMUST00000108664] [ENSMUST00000108665]
Predicted Effect possibly damaging
Transcript: ENSMUST00000021259
AA Change: V406A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: V406A

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
low complexity region 36 55 N/A INTRINSIC
Pfam:ANF_receptor 75 403 5.3e-37 PFAM
transmembrane domain 468 490 N/A INTRINSIC
Pfam:Pkinase 557 807 1.1e-24 PFAM
Pfam:Pkinase_Tyr 560 807 2e-29 PFAM
CYCc 847 1050 7.78e-104 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108664
AA Change: V406A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: V406A

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
low complexity region 36 55 N/A INTRINSIC
Pfam:ANF_receptor 75 403 2.4e-40 PFAM
transmembrane domain 468 490 N/A INTRINSIC
Pfam:Pkinase 560 807 9.5e-23 PFAM
Pfam:Pkinase_Tyr 560 807 7.7e-29 PFAM
CYCc 847 1050 7.78e-104 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000108665
AA Change: V406A

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: V406A

DomainStartEndE-ValueType
low complexity region 5 15 N/A INTRINSIC
low complexity region 36 55 N/A INTRINSIC
Pfam:ANF_receptor 75 403 5.3e-37 PFAM
transmembrane domain 468 490 N/A INTRINSIC
Pfam:Pkinase 557 807 1.1e-24 PFAM
Pfam:Pkinase_Tyr 560 807 2e-29 PFAM
CYCc 847 1050 7.78e-104 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155457
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 retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal retinal cone cell morphology, impaired cone and rod electrophysiology, and severe retinal cone cell degeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 60,019,174 D188G probably damaging Het
AI314180 G A 4: 58,832,814 probably benign Het
Aoc1 A G 6: 48,906,531 Y447C probably damaging Het
Brd1 A T 15: 88,700,887 L915M probably damaging Het
Cacna2d3 T A 14: 28,943,607 E152D possibly damaging Het
Dnase2b A G 3: 146,584,616 probably null Het
Fat4 T C 3: 38,951,032 V1860A probably damaging Het
Fbxl5 C A 5: 43,758,705 G455V probably benign Het
Fpr-rs4 G A 17: 18,022,231 V167M probably damaging Het
Fut7 C A 2: 25,425,331 Y153* probably null Het
Gnptab A G 10: 88,437,495 T1045A probably damaging Het
Gucy1a1 T A 3: 82,108,619 D354V probably damaging Het
Herc2 T C 7: 56,085,142 F160S probably benign Het
Ice2 T G 9: 69,407,332 V42G probably benign Het
L3mbtl4 A G 17: 68,630,202 Y406C probably damaging Het
Lepr C T 4: 101,733,534 T103I probably benign Het
Ly75 T A 2: 60,301,015 M1589L probably benign Het
Map4k3 A G 17: 80,605,809 V644A probably damaging Het
Micall1 A G 15: 79,130,512 D696G possibly damaging Het
Muc4 T C 16: 32,736,402 V8A possibly damaging Het
Myo1h A G 5: 114,314,966 D9G probably damaging Het
Nop14 T A 5: 34,649,345 K472* probably null Het
Npat T A 9: 53,556,571 D275E possibly damaging Het
Nt5c1b A G 12: 10,374,798 T115A probably benign Het
Olfr429 A G 1: 174,089,556 N172S probably damaging Het
Olfr709-ps1 A T 7: 106,927,420 I13N probably benign Het
Pnpla7 T A 2: 25,050,893 S1086T possibly damaging Het
Pold1 C T 7: 44,533,372 probably null Het
Ppfia1 A G 7: 144,481,719 F1165L probably benign Het
Prlr T A 15: 10,328,718 D426E probably benign Het
Ptgs2 G A 1: 150,103,727 R231H probably damaging Het
Rorc A G 3: 94,388,787 D91G probably damaging Het
Scaper C T 9: 55,912,051 V127M possibly damaging Het
Sema3g A T 14: 31,221,727 Y188F probably damaging Het
Slc45a3 G T 1: 131,978,987 A400S possibly damaging Het
Slc9b2 C A 3: 135,336,395 H478Q probably benign Het
Spg11 T A 2: 122,060,971 H1973L probably damaging Het
Srgap3 A G 6: 112,773,648 Y359H probably damaging Het
Stx16 T G 2: 174,094,020 I248S probably damaging Het
Sytl3 A G 17: 6,735,440 R287G probably damaging Het
Tiam1 T C 16: 89,812,968 T82A probably damaging Het
Trpm1 T C 7: 64,268,889 L659P probably damaging Het
Ttc13 G A 8: 124,673,738 probably benign Het
Unc80 T C 1: 66,551,054 probably null Het
Vldlr G T 19: 27,243,773 R613L probably damaging Het
Wdr77 C T 3: 105,959,686 R35* probably null Het
Zc3h14 T G 12: 98,779,186 I478R possibly damaging Het
Zfp366 A G 13: 99,228,412 H27R probably damaging Het
Other mutations in Gucy2e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Gucy2e APN 11 69223097 missense possibly damaging 0.88
IGL01756:Gucy2e APN 11 69232852 missense probably damaging 0.98
IGL02030:Gucy2e APN 11 69223816 missense probably damaging 1.00
IGL02095:Gucy2e APN 11 69232787 missense possibly damaging 0.48
IGL02387:Gucy2e APN 11 69236116 missense probably benign
IGL02622:Gucy2e APN 11 69225031 missense probably damaging 1.00
IGL02660:Gucy2e APN 11 69232007 missense probably benign 0.18
IGL03181:Gucy2e APN 11 69230182 splice site probably benign
R0110:Gucy2e UTSW 11 69235576 missense probably benign 0.00
R0115:Gucy2e UTSW 11 69236632 missense unknown
R0450:Gucy2e UTSW 11 69235576 missense probably benign 0.00
R0469:Gucy2e UTSW 11 69235576 missense probably benign 0.00
R0497:Gucy2e UTSW 11 69224159 missense probably damaging 1.00
R0510:Gucy2e UTSW 11 69235576 missense probably benign 0.00
R1252:Gucy2e UTSW 11 69235659 missense probably benign
R1535:Gucy2e UTSW 11 69226244 missense probably damaging 1.00
R1700:Gucy2e UTSW 11 69232058 missense probably benign
R2035:Gucy2e UTSW 11 69227532 missense probably benign 0.12
R2179:Gucy2e UTSW 11 69228578 splice site probably null
R3622:Gucy2e UTSW 11 69225051 missense probably damaging 1.00
R4212:Gucy2e UTSW 11 69228123 missense probably damaging 0.99
R4600:Gucy2e UTSW 11 69236168 missense possibly damaging 0.71
R4790:Gucy2e UTSW 11 69228448 missense probably damaging 1.00
R5170:Gucy2e UTSW 11 69235570 missense probably damaging 0.97
R5174:Gucy2e UTSW 11 69236566 missense probably benign
R5440:Gucy2e UTSW 11 69223646 missense probably damaging 0.98
R5586:Gucy2e UTSW 11 69226256 missense probably damaging 1.00
R5668:Gucy2e UTSW 11 69228381 missense probably damaging 1.00
R5820:Gucy2e UTSW 11 69232696 missense probably benign 0.36
R5826:Gucy2e UTSW 11 69236033 missense possibly damaging 0.53
R6169:Gucy2e UTSW 11 69236104 missense probably benign 0.19
R6544:Gucy2e UTSW 11 69235657 missense probably benign
R6815:Gucy2e UTSW 11 69232001 missense possibly damaging 0.86
R7020:Gucy2e UTSW 11 69232793 missense probably benign 0.00
R7592:Gucy2e UTSW 11 69223324 critical splice donor site probably null
R7658:Gucy2e UTSW 11 69226229 nonsense probably null
R7812:Gucy2e UTSW 11 69226243 missense probably damaging 1.00
X0025:Gucy2e UTSW 11 69226244 missense probably damaging 1.00
Posted On2013-12-09