Incidental Mutation 'R4600:Gucy2e'
ID 345551
Institutional Source Beutler Lab
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 # R4600 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69108943-69127862 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 69126994 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Proline at position 160 (A160P)
Ref Sequence ENSEMBL: ENSMUSP00000104305 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021259] [ENSMUST00000108664] [ENSMUST00000108665]
AlphaFold P52785
Predicted Effect possibly damaging
Transcript: ENSMUST00000021259
AA Change: A160P

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: A160P

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: A160P

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: A160P

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: A160P

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: A160P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158813
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,195,037 (GRCm39) F145L possibly damaging Het
Aars2 T A 17: 45,827,847 (GRCm39) D555E probably damaging Het
Ago1 C A 4: 126,354,185 (GRCm39) M208I probably benign Het
Ak7 G A 12: 105,679,834 (GRCm39) V123M probably benign Het
Amfr A G 8: 94,700,849 (GRCm39) L537P probably damaging Het
Apob A G 12: 8,058,568 (GRCm39) D2317G probably damaging Het
Asb6 T A 2: 30,714,483 (GRCm39) D209V probably damaging Het
AY358078 T A 14: 52,063,532 (GRCm39) C393S possibly damaging Het
Baz2a T A 10: 127,957,052 (GRCm39) C932S probably damaging Het
Btnl10 A G 11: 58,814,426 (GRCm39) I369V probably benign Het
Ccdc66 T C 14: 27,222,377 (GRCm39) N122S probably damaging Het
Cfap96 A T 8: 46,423,505 (GRCm39) I69N probably damaging Het
Clic4 A T 4: 134,966,300 (GRCm39) probably null Het
Col6a3 A G 1: 90,709,626 (GRCm39) S1857P unknown Het
Cracr2a A C 6: 127,580,851 (GRCm39) D9A probably benign Het
Cspg4b A G 13: 113,455,783 (GRCm39) R610G possibly damaging Het
Dcst1 T C 3: 89,263,643 (GRCm39) E384G probably benign Het
Ddx4 T C 13: 112,748,594 (GRCm39) K435E probably damaging Het
Deaf1 T A 7: 140,890,884 (GRCm39) T433S possibly damaging Het
Dnah3 T A 7: 119,689,169 (GRCm39) M82L probably benign Het
Dnhd1 G T 7: 105,352,851 (GRCm39) R2668L probably damaging Het
Efcab6 C T 15: 83,831,126 (GRCm39) G596D probably benign Het
Ercc3 G A 18: 32,378,624 (GRCm39) A202T probably benign Het
Fam181b C A 7: 92,729,992 (GRCm39) A255E possibly damaging Het
Fam83e T A 7: 45,372,924 (GRCm39) D178E probably benign Het
Frem2 A G 3: 53,455,228 (GRCm39) L2116S possibly damaging Het
Gm16494 T A 17: 47,327,723 (GRCm39) K54* probably null Het
Golgb1 A G 16: 36,738,987 (GRCm39) D2442G probably damaging Het
Greb1l G A 18: 10,553,705 (GRCm39) A1569T probably damaging Het
Grik5 C G 7: 24,767,489 (GRCm39) E64Q probably damaging Het
Gstm5 A G 3: 107,805,302 (GRCm39) Y130C probably damaging Het
Hydin A T 8: 111,293,582 (GRCm39) T3510S probably benign Het
Ift70a1 T C 2: 75,810,977 (GRCm39) T369A probably benign Het
Itgb2 A G 10: 77,381,949 (GRCm39) I84V probably benign Het
Itsn1 A G 16: 91,696,475 (GRCm39) Q26R probably damaging Het
Kat6a A G 8: 23,429,327 (GRCm39) S1561G probably benign Het
Khnyn G A 14: 56,124,438 (GRCm39) V231I probably benign Het
Kif21b A G 1: 136,075,602 (GRCm39) D243G probably benign Het
Klk4 T A 7: 43,534,762 (GRCm39) N240K probably damaging Het
Knl1 T C 2: 118,901,025 (GRCm39) S909P possibly damaging Het
Lamb1 A C 12: 31,373,528 (GRCm39) D1419A probably benign Het
Lin9 T A 1: 180,508,759 (GRCm39) V421D probably damaging Het
Lipt2 T C 7: 99,809,519 (GRCm39) L202P probably benign Het
Mbd5 T G 2: 49,147,209 (GRCm39) M473R probably benign Het
Mcc A T 18: 44,652,587 (GRCm39) I279N probably damaging Het
Mcpt9 C T 14: 56,266,049 (GRCm39) V60M probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mylk2 G A 2: 152,759,476 (GRCm39) V389M probably damaging Het
Ndufs7 T A 10: 80,092,501 (GRCm39) Y203* probably null Het
Nup160 T A 2: 90,515,541 (GRCm39) probably null Het
Nup88 G A 11: 70,860,522 (GRCm39) R62* probably null Het
Or2g7 T C 17: 38,378,853 (GRCm39) S264P probably damaging Het
Or51af1 T A 7: 103,141,788 (GRCm39) Q99L probably damaging Het
Or6c207 G A 10: 129,104,274 (GRCm39) A306V probably benign Het
Or8b8 T A 9: 37,809,622 (GRCm39) S307R probably benign Het
Or8g33 A G 9: 39,337,731 (GRCm39) M212T probably benign Het
Os9 T C 10: 126,934,223 (GRCm39) N471S probably benign Het
Otof C T 5: 30,529,244 (GRCm39) V1757M probably damaging Het
Pakap A T 4: 57,709,954 (GRCm39) T300S probably benign Het
Pald1 T C 10: 61,184,395 (GRCm39) T241A probably benign Het
Pappa2 G A 1: 158,642,015 (GRCm39) S1347L probably damaging Het
Pccb T C 9: 100,916,832 (GRCm39) T27A probably benign Het
Pde4dip A T 3: 97,603,260 (GRCm39) V2243D probably damaging Het
Pkd2l2 C A 18: 34,571,254 (GRCm39) Q590K probably benign Het
Pmepa1 G A 2: 173,070,120 (GRCm39) P145L possibly damaging Het
Ppp3cb T C 14: 20,570,714 (GRCm39) N339S possibly damaging Het
Rnf133 T C 6: 23,649,041 (GRCm39) E296G possibly damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Serpinb12 T A 1: 106,876,883 (GRCm39) D66E probably benign Het
Slc35e2 T C 4: 155,702,106 (GRCm39) F290S probably benign Het
Slc46a2 C T 4: 59,911,886 (GRCm39) C442Y probably damaging Het
Slc7a1 A G 5: 148,278,869 (GRCm39) L301P probably damaging Het
Spg21 A G 9: 65,383,257 (GRCm39) T148A probably benign Het
Stox2 A G 8: 47,645,970 (GRCm39) S497P probably damaging Het
Sult1c2 C A 17: 54,280,983 (GRCm39) W40L probably benign Het
Sytl2 T C 7: 90,024,977 (GRCm39) S322P probably benign Het
Telo2 C A 17: 25,324,122 (GRCm39) R531L possibly damaging Het
Thbs3 T C 3: 89,131,897 (GRCm39) V719A probably damaging Het
Tlr9 T A 9: 106,101,732 (GRCm39) L341Q probably damaging Het
Tmprss5 A G 9: 49,024,548 (GRCm39) N230D possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Tpo C T 12: 30,148,228 (GRCm39) V558M probably benign Het
Trex1 T G 9: 108,887,352 (GRCm39) Q213P possibly damaging Het
Ttc7b G A 12: 100,466,376 (GRCm39) R79C probably damaging Het
Ugt1a6a A G 1: 88,066,586 (GRCm39) K131E probably benign Het
Vipr1 T A 9: 121,494,202 (GRCm39) probably null Het
Vmn1r22 T C 6: 57,877,860 (GRCm39) D39G probably damaging Het
Vmn2r58 A T 7: 41,522,046 (GRCm39) C17S probably benign Het
Vps41 T C 13: 18,929,453 (GRCm39) Y63H probably damaging Het
Xdh G T 17: 74,217,195 (GRCm39) T691N probably benign Het
Zfp518b T C 5: 38,830,970 (GRCm39) N345S probably damaging Het
Zfp536 T A 7: 37,267,918 (GRCm39) K499N probably damaging Het
Zfp963 A T 8: 70,195,510 (GRCm39) probably null 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
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
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'- TCTCCATGGAAGTCACTAGGGC -3'
(R):5'- GACTTTGCTTTAGACGGCG -3'

Sequencing Primer
(F):5'- AGTCACTAGGGCAACTGGC -3'
(R):5'- TCGAGGTTGCGCTGCTC -3'
Posted On 2015-09-25