Incidental Mutation 'IGL01756:Gucy2e'
ID 153458
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gucy2e
Ensembl Gene ENSMUSG00000020890
Gene Name guanylate cyclase 2e
Synonyms GC1, ROS-GC1, GC-E
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # IGL01756
Quality Score
Status
Chromosome 11
Chromosomal Location 69108943-69127862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69123678 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 407 (L407Q)
Ref Sequence ENSEMBL: ENSMUSP00000104305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021259] [ENSMUST00000108664] [ENSMUST00000108665]
AlphaFold P52785
Predicted Effect probably damaging
Transcript: ENSMUST00000021259
AA Change: L407Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: L407Q

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 probably damaging
Transcript: ENSMUST00000108664
AA Change: L407Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: L407Q

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 probably damaging
Transcript: ENSMUST00000108665
AA Change: L407Q

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: L407Q

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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atrnl1 A G 19: 57,641,380 (GRCm39) N343D probably benign Het
Birc6 T C 17: 74,947,203 (GRCm39) V2974A probably benign Het
Cngb3 A C 4: 19,367,850 (GRCm39) D253A probably damaging Het
Cog4 A T 8: 111,580,391 (GRCm39) K154* probably null Het
Col6a3 T A 1: 90,706,884 (GRCm39) E2076D unknown Het
Cox7a2 T G 9: 79,665,837 (GRCm39) T15P probably benign Het
Cyp4f39 T A 17: 32,702,415 (GRCm39) L304* probably null Het
Hectd4 T C 5: 121,482,887 (GRCm39) I3146T probably benign Het
Hipk4 T A 7: 27,227,968 (GRCm39) L238* probably null Het
Igf2r C T 17: 12,902,709 (GRCm39) R2447Q probably benign Het
Itgb4 G A 11: 115,879,752 (GRCm39) V635I probably damaging Het
Klkb1 T A 8: 45,725,361 (GRCm39) K526M probably damaging Het
Ninl T C 2: 150,821,436 (GRCm39) E66G probably damaging Het
Pde8b A G 13: 95,182,895 (GRCm39) S288P probably damaging Het
Rigi A T 4: 40,209,934 (GRCm39) N666K probably damaging Het
Sar1a T A 10: 61,522,235 (GRCm39) M109K probably benign Het
Snx18 T A 13: 113,754,052 (GRCm39) T294S probably benign Het
Srek1 C T 13: 103,897,090 (GRCm39) D84N probably damaging Het
Trem1 G A 17: 48,544,141 (GRCm39) W55* probably null Het
Tsnaxip1 A T 8: 106,569,420 (GRCm39) probably benign Het
Vmn2r43 A G 7: 8,258,583 (GRCm39) L210S probably benign Het
Other mutations in Gucy2e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Gucy2e APN 11 69,113,923 (GRCm39) missense possibly damaging 0.88
IGL01626:Gucy2e APN 11 69,123,681 (GRCm39) missense possibly damaging 0.80
IGL02030:Gucy2e APN 11 69,114,642 (GRCm39) missense probably damaging 1.00
IGL02095:Gucy2e APN 11 69,123,613 (GRCm39) missense possibly damaging 0.48
IGL02387:Gucy2e APN 11 69,126,942 (GRCm39) missense probably benign
IGL02622:Gucy2e APN 11 69,115,857 (GRCm39) missense probably damaging 1.00
IGL02660:Gucy2e APN 11 69,122,833 (GRCm39) missense probably benign 0.18
IGL03181:Gucy2e APN 11 69,121,008 (GRCm39) splice site probably benign
R0110:Gucy2e UTSW 11 69,126,402 (GRCm39) missense probably benign 0.00
R0115:Gucy2e UTSW 11 69,127,458 (GRCm39) missense unknown
R0450:Gucy2e UTSW 11 69,126,402 (GRCm39) missense probably benign 0.00
R0469:Gucy2e UTSW 11 69,126,402 (GRCm39) missense probably benign 0.00
R0497:Gucy2e UTSW 11 69,114,985 (GRCm39) missense probably damaging 1.00
R0510:Gucy2e UTSW 11 69,126,402 (GRCm39) missense probably benign 0.00
R1252:Gucy2e UTSW 11 69,126,485 (GRCm39) missense probably benign
R1535:Gucy2e UTSW 11 69,117,070 (GRCm39) missense probably damaging 1.00
R1700:Gucy2e UTSW 11 69,122,884 (GRCm39) missense probably benign
R2035:Gucy2e UTSW 11 69,118,358 (GRCm39) missense probably benign 0.12
R2179:Gucy2e UTSW 11 69,119,404 (GRCm39) splice site probably null
R3622:Gucy2e UTSW 11 69,115,877 (GRCm39) missense probably damaging 1.00
R4212:Gucy2e UTSW 11 69,118,949 (GRCm39) missense probably damaging 0.99
R4600:Gucy2e UTSW 11 69,126,994 (GRCm39) missense possibly damaging 0.71
R4790:Gucy2e UTSW 11 69,119,274 (GRCm39) missense probably damaging 1.00
R5170:Gucy2e UTSW 11 69,126,396 (GRCm39) missense probably damaging 0.97
R5174:Gucy2e UTSW 11 69,127,392 (GRCm39) missense probably benign
R5440:Gucy2e UTSW 11 69,114,472 (GRCm39) missense probably damaging 0.98
R5586:Gucy2e UTSW 11 69,117,082 (GRCm39) missense probably damaging 1.00
R5668:Gucy2e UTSW 11 69,119,207 (GRCm39) missense probably damaging 1.00
R5820:Gucy2e UTSW 11 69,123,522 (GRCm39) missense probably benign 0.36
R5826:Gucy2e UTSW 11 69,126,859 (GRCm39) missense possibly damaging 0.53
R6169:Gucy2e UTSW 11 69,126,930 (GRCm39) missense probably benign 0.19
R6544:Gucy2e UTSW 11 69,126,483 (GRCm39) missense probably benign
R6815:Gucy2e UTSW 11 69,122,827 (GRCm39) missense possibly damaging 0.86
R7020:Gucy2e UTSW 11 69,123,619 (GRCm39) missense probably benign 0.00
R7592:Gucy2e UTSW 11 69,114,150 (GRCm39) critical splice donor site probably null
R7658:Gucy2e UTSW 11 69,117,055 (GRCm39) nonsense probably null
R7812:Gucy2e UTSW 11 69,117,069 (GRCm39) missense probably damaging 1.00
R8284:Gucy2e UTSW 11 69,123,177 (GRCm39) missense probably benign
R8479:Gucy2e UTSW 11 69,123,789 (GRCm39) missense probably benign 0.22
R8537:Gucy2e UTSW 11 69,127,179 (GRCm39) missense probably benign 0.01
R8806:Gucy2e UTSW 11 69,126,942 (GRCm39) missense probably benign
R9030:Gucy2e UTSW 11 69,115,827 (GRCm39) missense probably damaging 1.00
R9192:Gucy2e UTSW 11 69,127,303 (GRCm39) missense probably damaging 1.00
R9217:Gucy2e UTSW 11 69,126,778 (GRCm39) missense possibly damaging 0.63
R9304:Gucy2e UTSW 11 69,126,560 (GRCm39) missense probably benign 0.20
R9566:Gucy2e UTSW 11 69,118,947 (GRCm39) missense probably damaging 1.00
R9784:Gucy2e UTSW 11 69,123,516 (GRCm39) missense probably benign
X0025:Gucy2e UTSW 11 69,117,070 (GRCm39) missense probably damaging 1.00
Z1186:Gucy2e UTSW 11 69,127,429 (GRCm39) missense unknown
Z1186:Gucy2e UTSW 11 69,114,431 (GRCm39) missense probably benign 0.00
Z1187:Gucy2e UTSW 11 69,127,429 (GRCm39) missense unknown
Z1187:Gucy2e UTSW 11 69,114,431 (GRCm39) missense probably benign 0.00
Z1188:Gucy2e UTSW 11 69,127,429 (GRCm39) missense unknown
Z1188:Gucy2e UTSW 11 69,114,431 (GRCm39) missense probably benign 0.00
Z1189:Gucy2e UTSW 11 69,127,429 (GRCm39) missense unknown
Z1189:Gucy2e UTSW 11 69,114,431 (GRCm39) missense probably benign 0.00
Z1190:Gucy2e UTSW 11 69,127,429 (GRCm39) missense unknown
Z1190:Gucy2e UTSW 11 69,114,431 (GRCm39) missense probably benign 0.00
Z1191:Gucy2e UTSW 11 69,127,429 (GRCm39) missense unknown
Z1191:Gucy2e UTSW 11 69,114,431 (GRCm39) missense probably benign 0.00
Z1192:Gucy2e UTSW 11 69,127,429 (GRCm39) missense unknown
Z1192:Gucy2e UTSW 11 69,114,431 (GRCm39) missense probably benign 0.00
Posted On 2014-02-04