Incidental Mutation 'IGL03181:Gucy2e'
ID 412269
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 # IGL03181
Quality Score
Status
Chromosome 11
Chromosomal Location 69108943-69127862 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 69121008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021259] [ENSMUST00000108664] [ENSMUST00000108665]
AlphaFold P52785
Predicted Effect probably benign
Transcript: ENSMUST00000021259
SMART Domains Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890

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 benign
Transcript: ENSMUST00000108664
SMART Domains Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890

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 benign
Transcript: ENSMUST00000108665
SMART Domains Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890

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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,240,147 (GRCm39) V1319A possibly damaging Het
Abcb11 T A 2: 69,158,352 (GRCm39) probably benign Het
Acss3 G T 10: 106,889,249 (GRCm39) H190Q probably damaging Het
Adra2b C T 2: 127,205,903 (GRCm39) T140I probably benign Het
Arl1 T A 10: 88,578,921 (GRCm39) probably benign Het
Atp4a T G 7: 30,424,129 (GRCm39) C968G probably benign Het
Clec4n T C 6: 123,207,474 (GRCm39) C13R possibly damaging Het
Cnot3 T C 7: 3,656,247 (GRCm39) Y178H probably damaging Het
Col18a1 G A 10: 76,891,532 (GRCm39) R1560C probably damaging Het
Cyp2c66 T C 19: 39,130,483 (GRCm39) F106S probably benign Het
Dcn A C 10: 97,319,314 (GRCm39) E30D probably damaging Het
Dennd5a A T 7: 109,532,865 (GRCm39) F302I probably damaging Het
Dip2b T C 15: 100,113,088 (GRCm39) V1501A probably damaging Het
Dnah10 C T 5: 124,825,521 (GRCm39) P687S probably damaging Het
Drc7 A G 8: 95,794,755 (GRCm39) T387A probably benign Het
Dusp7 T A 9: 106,251,009 (GRCm39) M378K probably damaging Het
Ftmt T C 18: 52,464,953 (GRCm39) Y90H probably damaging Het
Glb1l3 T C 9: 26,739,659 (GRCm39) probably null Het
Gpatch3 T C 4: 133,305,433 (GRCm39) F223L probably damaging Het
Gpr158 T A 2: 21,787,972 (GRCm39) F538I probably benign Het
Hadha A G 5: 30,326,524 (GRCm39) V566A probably benign Het
Hectd4 A T 5: 121,492,021 (GRCm39) S3787C possibly damaging Het
Hnrnpk A T 13: 58,542,130 (GRCm39) D265E possibly damaging Het
Hspbp1 G A 7: 4,687,363 (GRCm39) R83W probably damaging Het
Hspg2 T A 4: 137,243,248 (GRCm39) L758Q probably damaging Het
Ippk A G 13: 49,595,463 (GRCm39) Y180C probably damaging Het
Itpr3 T A 17: 27,330,242 (GRCm39) M1620K probably benign Het
Klf7 T C 1: 64,074,885 (GRCm39) K298R possibly damaging Het
Ktn1 A T 14: 47,970,741 (GRCm39) T1229S probably benign Het
Lefty2 A G 1: 180,725,115 (GRCm39) N282D probably damaging Het
Lrrc37 A T 11: 103,507,242 (GRCm39) probably benign Het
Nsd1 G A 13: 55,394,858 (GRCm39) E820K probably damaging Het
Obsl1 C A 1: 75,469,228 (GRCm39) A1238S probably benign Het
Odr4 G T 1: 150,239,290 (GRCm39) P378T probably benign Het
Pias2 T C 18: 77,220,938 (GRCm39) I391T possibly damaging Het
Ppp1r10 G T 17: 36,241,516 (GRCm39) G764* probably null Het
Ptpra T C 2: 130,359,707 (GRCm39) F158L probably damaging Het
Recql T C 6: 142,323,918 (GRCm39) S59G probably benign Het
Rrp1b A T 17: 32,276,150 (GRCm39) I566F probably benign Het
Sh3yl1 G A 12: 30,991,979 (GRCm39) D145N possibly damaging Het
Slc35f5 T A 1: 125,512,922 (GRCm39) I52N probably damaging Het
Slc51b A G 9: 65,322,447 (GRCm39) probably null Het
Smpd4 C T 16: 17,443,671 (GRCm39) Q72* probably null Het
Spata6 A G 4: 111,679,963 (GRCm39) D391G probably benign Het
Tnc T A 4: 63,885,543 (GRCm39) D1853V possibly damaging Het
Tnks1bp1 C T 2: 84,893,058 (GRCm39) T333I probably benign Het
Vmn2r100 T A 17: 19,752,207 (GRCm39) I813N probably damaging Het
Vwa8 T A 14: 79,246,690 (GRCm39) H677Q probably benign Het
Washc4 T C 10: 83,426,883 (GRCm39) Y1064H probably damaging Het
Wdr82 T A 9: 106,063,614 (GRCm39) I272K probably benign Het
Zc3h12a T C 4: 125,013,097 (GRCm39) Y589C probably damaging 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
IGL01756:Gucy2e APN 11 69,123,678 (GRCm39) missense probably damaging 0.98
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
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 2016-08-02