Incidental Mutation 'R2179:Gucy2e'
ID 237067
Institutional Source Beutler Lab
Gene Symbol Gucy2e
Ensembl Gene ENSMUSG00000020890
Gene Name guanylate cyclase 2e
Synonyms GC1, ROS-GC1, GC-E
MMRRC Submission 040181-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R2179 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69108943-69127862 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 69119404 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000104305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021259] [ENSMUST00000021259] [ENSMUST00000108664] [ENSMUST00000108664] [ENSMUST00000108665] [ENSMUST00000108665]
AlphaFold P52785
Predicted Effect probably null
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 null
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 null
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 null
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 null
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 probably null
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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,271,018 (GRCm39) D849G possibly damaging Het
Amz2 A G 11: 109,320,658 (GRCm39) H155R probably damaging Het
Cfhr4 G T 1: 139,659,279 (GRCm39) P679Q probably damaging Het
Chuk C A 19: 44,092,160 (GRCm39) C46F possibly damaging Het
Cp A T 3: 20,042,151 (GRCm39) D973V probably damaging Het
Cpm T A 10: 117,519,266 (GRCm39) D391E probably benign Het
Creb3 T C 4: 43,566,306 (GRCm39) S271P probably damaging Het
Cubn T A 2: 13,323,053 (GRCm39) H2838L possibly damaging Het
Dennd2d A G 3: 106,399,776 (GRCm39) H233R probably benign Het
Dnaaf2 C A 12: 69,245,071 (GRCm39) probably benign Het
Enpp3 T A 10: 24,681,793 (GRCm39) Q304H probably benign Het
Fermt3 C A 19: 6,991,782 (GRCm39) R143L probably benign Het
Fndc8 A C 11: 82,789,580 (GRCm39) K246T probably damaging Het
Gaa A G 11: 119,165,884 (GRCm39) probably null Het
Igf1r A G 7: 67,653,698 (GRCm39) T79A probably damaging Het
Ikbkb C T 8: 23,171,769 (GRCm39) probably null Het
Il16 A T 7: 83,337,287 (GRCm39) probably null Het
Irs1 T A 1: 82,267,940 (GRCm39) H92L possibly damaging Het
Itpr2 A G 6: 146,277,464 (GRCm39) M315T probably benign Het
Lrba T G 3: 86,261,588 (GRCm39) L1514R probably damaging Het
Mcpt2 A G 14: 56,279,573 (GRCm39) probably benign Het
Metap1d A G 2: 71,283,715 (GRCm39) I5V probably benign Het
Mga T A 2: 119,790,923 (GRCm39) S2479T probably damaging Het
Mllt10 T C 2: 18,215,604 (GRCm39) V1063A probably damaging Het
Mroh2b G A 15: 4,950,928 (GRCm39) probably null Het
Mtfr1 C T 3: 19,254,308 (GRCm39) R15* probably null Het
Npm2 A G 14: 70,885,749 (GRCm39) V152A probably benign Het
Nrxn3 T A 12: 89,221,448 (GRCm39) V409D probably damaging Het
Ogdhl A G 14: 32,057,302 (GRCm39) N303D probably damaging Het
Or10g9 T C 9: 39,912,220 (GRCm39) Y101C probably benign Het
Or10q1b T C 19: 13,682,758 (GRCm39) V189A probably damaging Het
Or4d11 T C 19: 12,013,452 (GRCm39) Y218C probably damaging Het
Or6s1 A G 14: 51,308,238 (GRCm39) V204A probably benign Het
Pah T C 10: 87,403,197 (GRCm39) F191L probably damaging Het
Paics A T 5: 77,109,291 (GRCm39) I209F probably damaging Het
Pcare T C 17: 72,059,521 (GRCm39) D52G probably damaging Het
Pld6 A G 11: 59,678,184 (GRCm39) L93P probably damaging Het
Plod3 T C 5: 137,019,862 (GRCm39) F431L possibly damaging Het
Ppm1b T A 17: 85,301,862 (GRCm39) D247E probably damaging Het
Prx A G 7: 27,217,410 (GRCm39) D637G probably benign Het
Rsf1 GGCGGCGGC GGCGGCGGCCGCGGCGGC 7: 97,229,116 (GRCm39) probably benign Het
Ryr2 A T 13: 11,720,679 (GRCm39) Y2656* probably null Het
Setd2 T A 9: 110,423,756 (GRCm39) Y492* probably null Het
Shmt1 A G 11: 60,697,825 (GRCm39) W9R possibly damaging Het
Slc25a17 A G 15: 81,222,151 (GRCm39) V107A probably benign Het
Sptlc1 A T 13: 53,505,675 (GRCm39) Y248N probably damaging Het
Stam2 T C 2: 52,584,936 (GRCm39) T453A probably benign Het
Tango2 G T 16: 18,128,762 (GRCm39) N77K probably damaging Het
Tas2r121 A T 6: 132,677,831 (GRCm39) I47N probably damaging Het
Terb1 A T 8: 105,179,347 (GRCm39) C614S probably damaging Het
Terb1 T C 8: 105,199,369 (GRCm39) N525S probably benign Het
Ttc6 A G 12: 57,719,904 (GRCm39) D825G possibly damaging Het
U90926 A T 5: 92,357,838 (GRCm39) H104Q probably benign Het
Zfand4 G A 6: 116,291,742 (GRCm39) A559T possibly damaging Het
Zfp462 T C 4: 55,009,524 (GRCm39) S497P possibly 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
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
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
Predicted Primers PCR Primer
(F):5'- TTATTTCTCTCTGGGCCAGGAG -3'
(R):5'- TAATCCCCAGAGTGTGGCTGTC -3'

Sequencing Primer
(F):5'- TCTGGGCCAGGAGGTCATG -3'
(R):5'- CCATAGTCATGTTCTGAACGAGGC -3'
Posted On 2014-10-02