Incidental Mutation 'R0497:Gucy2e'
ID 40549
Institutional Source Beutler Lab
Gene Symbol Gucy2e
Ensembl Gene ENSMUSG00000020890
Gene Name guanylate cyclase 2e
Synonyms GC1, GC-E, ROS-GC1
MMRRC Submission 038693-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R0497 (G1)
Quality Score 118
Status Validated
Chromosome 11
Chromosomal Location 69218117-69237036 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 69224159 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 974 (V974E)
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: V974E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021259
Gene: ENSMUSG00000020890
AA Change: V974E

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: V974E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104304
Gene: ENSMUSG00000020890
AA Change: V974E

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: V974E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104305
Gene: ENSMUSG00000020890
AA Change: V974E

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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 98.7%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency 100% (68/68)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530053A07Rik T A 7: 28,147,465 (GRCm38) C1158S probably damaging Het
Aatk A C 11: 120,018,780 (GRCm38) V110G probably damaging Het
Adcy6 A C 15: 98,597,725 (GRCm38) probably null Het
Adm A G 7: 110,629,121 (GRCm38) T170A probably benign Het
Afap1l2 G T 19: 56,930,209 (GRCm38) N171K probably benign Het
Aph1b G T 9: 66,790,618 (GRCm38) S112* probably null Het
Arhgap23 A G 11: 97,452,163 (GRCm38) S424G probably damaging Het
Asah2 T A 19: 32,054,631 (GRCm38) N46I probably benign Het
Braf G A 6: 39,640,549 (GRCm38) probably benign Het
Brd2 C T 17: 34,114,360 (GRCm38) R47Q probably damaging Het
C2cd5 A G 6: 143,012,093 (GRCm38) V972A probably benign Het
Car9 T A 4: 43,511,881 (GRCm38) L300H probably damaging Het
Chmp3 T C 6: 71,552,411 (GRCm38) S20P probably damaging Het
Chp1 A G 2: 119,571,782 (GRCm38) N79S possibly damaging Het
Cnot2 A T 10: 116,498,355 (GRCm38) I335N probably damaging Het
Cntnap4 T C 8: 112,570,151 (GRCm38) V6A probably benign Het
Ctcf T A 8: 105,675,040 (GRCm38) probably benign Het
Dennd1b A G 1: 139,039,986 (GRCm38) probably benign Het
Dirc2 A T 16: 35,735,604 (GRCm38) V162D probably benign Het
Dnmbp A G 19: 43,856,640 (GRCm38) probably benign Het
Eef2 T C 10: 81,181,586 (GRCm38) F782L probably benign Het
Eogt T A 6: 97,135,233 (GRCm38) Y153F probably benign Het
Fam81a G T 9: 70,096,119 (GRCm38) Q237K possibly damaging Het
Fat2 T A 11: 55,283,402 (GRCm38) T2162S probably benign Het
Gas6 T C 8: 13,470,387 (GRCm38) I434V possibly damaging Het
Gm42417 A T 1: 36,532,167 (GRCm38) L77Q probably damaging Het
Grik3 A T 4: 125,623,510 (GRCm38) N49Y possibly damaging Het
Helz2 A G 2: 181,229,656 (GRCm38) V2721A probably damaging Het
Klhl6 GT G 16: 19,956,966 (GRCm38) 279 probably null Het
Krt73 A G 15: 101,802,230 (GRCm38) L23P probably damaging Het
L3mbtl3 T C 10: 26,282,874 (GRCm38) probably benign Het
Lrrc15 A T 16: 30,272,892 (GRCm38) V543E probably damaging Het
Med13 G A 11: 86,276,983 (GRCm38) probably benign Het
Med25 T C 7: 44,892,100 (GRCm38) D60G probably damaging Het
Mgam T A 6: 40,664,892 (GRCm38) Y560N probably damaging Het
Mlkl A G 8: 111,327,873 (GRCm38) Y211H probably damaging Het
Msl2 A G 9: 101,101,294 (GRCm38) N289S probably benign Het
Nwd2 G T 5: 63,806,343 (GRCm38) W1090L probably damaging Het
Olfr1281 A G 2: 111,328,830 (GRCm38) D137G probably benign Het
Omt2b T C 9: 78,328,231 (GRCm38) probably benign Het
Pald1 A G 10: 61,341,315 (GRCm38) L652P probably damaging Het
Pard3b T A 1: 62,440,008 (GRCm38) probably null Het
Prdm15 G A 16: 97,794,334 (GRCm38) T1098I possibly damaging Het
Rock2 A G 12: 16,954,953 (GRCm38) T436A probably benign Het
Sema4c A T 1: 36,549,608 (GRCm38) D812E probably benign Het
Sla A T 15: 66,792,249 (GRCm38) I91K probably benign Het
Slc22a16 T G 10: 40,584,967 (GRCm38) M255R probably damaging Het
Smg8 C T 11: 87,086,084 (GRCm38) D224N possibly damaging Het
Spdef A T 17: 27,718,058 (GRCm38) D190E probably benign Het
Taok1 A G 11: 77,573,804 (GRCm38) I152T probably damaging Het
Tmem220 A G 11: 67,025,922 (GRCm38) D36G probably damaging Het
Tmem235 A C 11: 117,864,351 (GRCm38) I210L probably benign Het
Tmem266 C T 9: 55,380,884 (GRCm38) probably null Het
Tmprss12 A G 15: 100,281,039 (GRCm38) probably benign Het
Trim32 G A 4: 65,613,254 (GRCm38) R16Q probably damaging Het
Usp38 T A 8: 80,984,424 (GRCm38) probably benign Het
Usp44 C T 10: 93,846,806 (GRCm38) P373S possibly damaging Het
Vmn1r209 G T 13: 22,805,948 (GRCm38) Q191K probably damaging Het
Vmn1r70 T C 7: 10,634,026 (GRCm38) I147T probably benign Het
Vmn2r107 T A 17: 20,375,132 (GRCm38) I649N probably damaging Het
Vmn2r12 A T 5: 109,091,889 (GRCm38) Y269* probably null Het
Zan C T 5: 137,412,676 (GRCm38) probably benign Het
Zfp616 G T 11: 74,083,480 (GRCm38) V192L probably benign Het
Zfp644 A T 5: 106,638,333 (GRCm38) V116D probably damaging Het
Zgrf1 T C 3: 127,584,650 (GRCm38) probably benign Het
Zhx3 A T 2: 160,779,994 (GRCm38) L751* probably null Het
Znfx1 T A 2: 167,055,411 (GRCm38) Q531L probably benign 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
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
R5170:Gucy2e UTSW 11 69,235,570 (GRCm38) missense probably damaging 0.97
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'- GTCTGTTACACTCACGCAGTCCAG -3'
(R):5'- GCCCAAATGCAACTCCTGCTTC -3'

Sequencing Primer
(F):5'- TGAAGCTGGCCTTGCTC -3'
(R):5'- AGAATATCTGCCCTAGTCTAGCC -3'
Posted On 2013-05-23