Incidental Mutation 'R5170:Gucy2e'
ID 397515
Institutional Source Beutler Lab
Gene Symbol Gucy2e
Ensembl Gene ENSMUSG00000020890
Gene Name guanylate cyclase 2e
Synonyms GC1, GC-E, ROS-GC1
MMRRC Submission 042750-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R5170 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 69218117-69237036 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69235570 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 328 (L328Q)
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: L328Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: L328Q

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: L328Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: L328Q

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: L328Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: L328Q

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: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,588,625 (GRCm38) I51V probably benign Het
Agbl2 A G 2: 90,803,197 (GRCm38) K559R probably benign Het
Arhgap30 A G 1: 171,408,050 (GRCm38) D664G probably benign Het
BC034090 A G 1: 155,213,650 (GRCm38) V798A probably damaging Het
Bdp1 A T 13: 100,030,794 (GRCm38) C2237* probably null Het
C3 C T 17: 57,223,938 (GRCm38) V388M probably damaging Het
Ccdc170 G A 10: 4,514,200 (GRCm38) E60K probably damaging Het
Cdh8 G A 8: 99,279,550 (GRCm38) T135M probably damaging Het
Cep131 G T 11: 120,070,609 (GRCm38) A572E probably damaging Het
Clec16a A G 16: 10,741,791 (GRCm38) Y976C probably benign Het
Dmpk C G 7: 19,088,019 (GRCm38) L301V probably benign Het
Eno3 A G 11: 70,662,214 (GRCm38) I393V probably benign Het
Fbxo47 A G 11: 97,857,694 (GRCm38) V305A probably benign Het
Fry G A 5: 150,429,854 (GRCm38) V1779M probably benign Het
Gm15293 A T 8: 21,201,680 (GRCm38) D26V probably damaging Het
Gtse1 T C 15: 85,864,264 (GRCm38) probably null Het
Ifi207 T C 1: 173,730,498 (GRCm38) T225A unknown Het
Igkv4-80 A C 6: 69,016,665 (GRCm38) S81A probably benign Het
Lamc3 A T 2: 31,887,344 (GRCm38) M1L probably benign Het
Lman1l G A 9: 57,615,619 (GRCm38) R153* probably null Het
Myo16 A G 8: 10,569,745 (GRCm38) D1432G probably benign Het
Nwd2 A T 5: 63,806,037 (GRCm38) N988I probably damaging Het
Otx1 C A 11: 21,997,037 (GRCm38) A91S probably damaging Het
Parp14 T C 16: 35,857,279 (GRCm38) E773G probably benign Het
Psen1 T A 12: 83,714,862 (GRCm38) M146K probably damaging Het
Ptx4 G A 17: 25,123,178 (GRCm38) R209Q probably benign Het
Slc13a2 T C 11: 78,400,808 (GRCm38) T340A probably damaging Het
St8sia1 T C 6: 142,963,708 (GRCm38) K21E probably damaging Het
Stxbp1 T C 2: 32,794,674 (GRCm38) D581G probably benign Het
Sumo2 G A 11: 115,534,660 (GRCm38) probably benign Het
Supt5 G A 7: 28,316,083 (GRCm38) P910S probably benign Het
Tbc1d30 T C 10: 121,306,838 (GRCm38) Q158R possibly damaging Het
Tenm2 T A 11: 36,024,806 (GRCm38) H1968L probably damaging Het
Trmt1 T C 8: 84,695,232 (GRCm38) Y220H probably damaging Het
Trp73 C T 4: 154,104,838 (GRCm38) E60K possibly damaging Het
Ttn A G 2: 76,787,069 (GRCm38) Y8026H probably damaging Het
Zar1l A G 5: 150,517,585 (GRCm38) probably null Het
Zfp740 T C 15: 102,209,205 (GRCm38) Y117H probably damaging Het
Zfp941 G A 7: 140,812,957 (GRCm38) probably benign Het
Zp1 C A 19: 10,920,554 (GRCm38) V8F possibly damaging Het
Other mutations in Gucy2e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Gucy2e APN 11 69,223,097 (GRCm38) missense possibly damaging 0.88
IGL01626:Gucy2e APN 11 69,232,855 (GRCm38) missense possibly damaging 0.80
IGL01756:Gucy2e APN 11 69,232,852 (GRCm38) missense probably damaging 0.98
IGL02030:Gucy2e APN 11 69,223,816 (GRCm38) missense probably damaging 1.00
IGL02095:Gucy2e APN 11 69,232,787 (GRCm38) missense possibly damaging 0.48
IGL02387:Gucy2e APN 11 69,236,116 (GRCm38) missense probably benign
IGL02622:Gucy2e APN 11 69,225,031 (GRCm38) missense probably damaging 1.00
IGL02660:Gucy2e APN 11 69,232,007 (GRCm38) missense probably benign 0.18
IGL03181:Gucy2e APN 11 69,230,182 (GRCm38) splice site probably benign
R0110:Gucy2e UTSW 11 69,235,576 (GRCm38) missense probably benign 0.00
R0115:Gucy2e UTSW 11 69,236,632 (GRCm38) missense unknown
R0450:Gucy2e UTSW 11 69,235,576 (GRCm38) missense probably benign 0.00
R0469:Gucy2e UTSW 11 69,235,576 (GRCm38) missense probably benign 0.00
R0497:Gucy2e UTSW 11 69,224,159 (GRCm38) missense probably damaging 1.00
R0510:Gucy2e UTSW 11 69,235,576 (GRCm38) missense probably benign 0.00
R1252:Gucy2e UTSW 11 69,235,659 (GRCm38) missense probably benign
R1535:Gucy2e UTSW 11 69,226,244 (GRCm38) missense probably damaging 1.00
R1700:Gucy2e UTSW 11 69,232,058 (GRCm38) missense probably benign
R2035:Gucy2e UTSW 11 69,227,532 (GRCm38) missense probably benign 0.12
R2179:Gucy2e UTSW 11 69,228,578 (GRCm38) splice site probably null
R3622:Gucy2e UTSW 11 69,225,051 (GRCm38) missense probably damaging 1.00
R4212:Gucy2e UTSW 11 69,228,123 (GRCm38) missense probably damaging 0.99
R4600:Gucy2e UTSW 11 69,236,168 (GRCm38) missense possibly damaging 0.71
R4790:Gucy2e UTSW 11 69,228,448 (GRCm38) missense probably damaging 1.00
R5174:Gucy2e UTSW 11 69,236,566 (GRCm38) missense probably benign
R5440:Gucy2e UTSW 11 69,223,646 (GRCm38) missense probably damaging 0.98
R5586:Gucy2e UTSW 11 69,226,256 (GRCm38) missense probably damaging 1.00
R5668:Gucy2e UTSW 11 69,228,381 (GRCm38) missense probably damaging 1.00
R5820:Gucy2e UTSW 11 69,232,696 (GRCm38) missense probably benign 0.36
R5826:Gucy2e UTSW 11 69,236,033 (GRCm38) missense possibly damaging 0.53
R6169:Gucy2e UTSW 11 69,236,104 (GRCm38) missense probably benign 0.19
R6544:Gucy2e UTSW 11 69,235,657 (GRCm38) missense probably benign
R6815:Gucy2e UTSW 11 69,232,001 (GRCm38) missense possibly damaging 0.86
R7020:Gucy2e UTSW 11 69,232,793 (GRCm38) missense probably benign 0.00
R7592:Gucy2e UTSW 11 69,223,324 (GRCm38) critical splice donor site probably null
R7658:Gucy2e UTSW 11 69,226,229 (GRCm38) nonsense probably null
R7812:Gucy2e UTSW 11 69,226,243 (GRCm38) missense probably damaging 1.00
R8284:Gucy2e UTSW 11 69,232,351 (GRCm38) missense probably benign
R8479:Gucy2e UTSW 11 69,232,963 (GRCm38) missense probably benign 0.22
R8537:Gucy2e UTSW 11 69,236,353 (GRCm38) missense probably benign 0.01
R8806:Gucy2e UTSW 11 69,236,116 (GRCm38) missense probably benign
R9030:Gucy2e UTSW 11 69,225,001 (GRCm38) missense probably damaging 1.00
R9192:Gucy2e UTSW 11 69,236,477 (GRCm38) missense probably damaging 1.00
R9217:Gucy2e UTSW 11 69,235,952 (GRCm38) missense possibly damaging 0.63
R9304:Gucy2e UTSW 11 69,235,734 (GRCm38) missense probably benign 0.20
R9566:Gucy2e UTSW 11 69,228,121 (GRCm38) missense probably damaging 1.00
R9784:Gucy2e UTSW 11 69,232,690 (GRCm38) missense probably benign
X0025:Gucy2e UTSW 11 69,226,244 (GRCm38) missense probably damaging 1.00
Z1186:Gucy2e UTSW 11 69,236,603 (GRCm38) missense unknown
Z1186:Gucy2e UTSW 11 69,223,605 (GRCm38) missense probably benign 0.00
Z1187:Gucy2e UTSW 11 69,236,603 (GRCm38) missense unknown
Z1187:Gucy2e UTSW 11 69,223,605 (GRCm38) missense probably benign 0.00
Z1188:Gucy2e UTSW 11 69,236,603 (GRCm38) missense unknown
Z1188:Gucy2e UTSW 11 69,223,605 (GRCm38) missense probably benign 0.00
Z1189:Gucy2e UTSW 11 69,236,603 (GRCm38) missense unknown
Z1189:Gucy2e UTSW 11 69,223,605 (GRCm38) missense probably benign 0.00
Z1190:Gucy2e UTSW 11 69,236,603 (GRCm38) missense unknown
Z1190:Gucy2e UTSW 11 69,223,605 (GRCm38) missense probably benign 0.00
Z1191:Gucy2e UTSW 11 69,236,603 (GRCm38) missense unknown
Z1191:Gucy2e UTSW 11 69,223,605 (GRCm38) missense probably benign 0.00
Z1192:Gucy2e UTSW 11 69,236,603 (GRCm38) missense unknown
Z1192:Gucy2e UTSW 11 69,223,605 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGTTTACGCCCCATTGACTC -3'
(R):5'- AAGAACTGGCTCTGACTGATGG -3'

Sequencing Primer
(F):5'- GCCCCATTGACTCCACCC -3'
(R):5'- TCTGACTGATGGCTCCCTGG -3'
Posted On 2016-07-06