Incidental Mutation 'IGL01138:Guca1a'
ID53117
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Guca1a
Ensembl Gene ENSMUSG00000023982
Gene Nameguanylate cyclase activator 1a (retina)
SynonymsmGCAP1, Guca1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.117) question?
Stock #IGL01138
Quality Score
Status
Chromosome17
Chromosomal Location47394560-47400584 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 47400384 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 12 (E12D)
Ref Sequence ENSEMBL: ENSMUSP00000060027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059348]
Predicted Effect probably damaging
Transcript: ENSMUST00000059348
AA Change: E12D

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000060027
Gene: ENSMUSG00000023982
AA Change: E12D

DomainStartEndE-ValueType
EFh 55 83 3.01e-5 SMART
EFh 91 119 2.44e-5 SMART
EFh 135 163 5.83e-3 SMART
low complexity region 166 177 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a calcium-binding photoreceptor protein. The encoded protein may be involved in modulation of guanylyl cyclase activity, and in turn, the mammalian cone phototransduction cascade. Disruption of this gene results in the retinal degeneration associated with cone dystrophy. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice heterozygous or homozygous for a knock-in allele exhibit photoreceptor degeneration and loss of cone and rod function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik A G 13: 60,854,859 V27A probably benign Het
Abcg5 T A 17: 84,664,847 R499S possibly damaging Het
Adamts13 T C 2: 26,983,042 S341P probably damaging Het
Adgrg1 T A 8: 95,003,457 C96S probably damaging Het
Arhgap44 A G 11: 65,041,449 F215S probably damaging Het
Arhgef25 A G 10: 127,184,170 F400L probably damaging Het
Baz1a T C 12: 54,930,325 E384G probably damaging Het
Col12a1 T C 9: 79,678,053 D1314G probably damaging Het
Col6a3 T A 1: 90,807,510 I806F probably damaging Het
Coro1c G A 5: 113,852,161 probably benign Het
CT030661.1 G A 17: 22,202,668 probably benign Het
Dnmt3b A T 2: 153,661,441 D4V probably benign Het
Ermn G T 2: 58,052,695 L8M possibly damaging Het
F13b T A 1: 139,517,212 N533K probably damaging Het
Fam171a1 T C 2: 3,202,620 V93A possibly damaging Het
Fam84b T A 15: 60,823,118 I260F probably damaging Het
Gpr107 T A 2: 31,172,016 L152Q probably benign Het
Igtp A G 11: 58,206,144 N47S possibly damaging Het
Lrrc8e A G 8: 4,234,084 N103S probably damaging Het
Lsmem1 A G 12: 40,180,699 L68P probably damaging Het
Maml3 A G 3: 51,690,558 S902P possibly damaging Het
Mkln1 A T 6: 31,432,990 N188Y probably damaging Het
Mlxip C T 5: 123,450,156 R771W probably damaging Het
Myf6 T C 10: 107,494,398 R103G probably damaging Het
Ncam2 T A 16: 81,517,579 I481K probably damaging Het
Nrap T A 19: 56,355,538 S645C probably damaging Het
Nup205 G T 6: 35,208,084 E813* probably null Het
Olfr157 A G 4: 43,835,617 L291P probably damaging Het
Plekhg5 C T 4: 152,106,978 R410W probably damaging Het
Pnmal2 C A 7: 16,945,163 T24K unknown Het
Polq A T 16: 37,045,869 Y476F possibly damaging Het
Prkd2 T C 7: 16,848,811 S200P probably damaging Het
Rif1 C A 2: 52,111,522 L1663I probably damaging Het
Serpina5 A G 12: 104,103,744 Y300C possibly damaging Het
Shroom4 T C X: 6,585,203 S806P probably damaging Het
Sirpa T C 2: 129,630,165 V290A probably damaging Het
Slc25a47 C T 12: 108,856,022 R246C probably damaging Het
Slc9a6 A G X: 56,623,431 D199G probably damaging Het
Smarca5 T A 8: 80,701,076 K1048M possibly damaging Het
Sos2 C T 12: 69,616,849 probably benign Het
Trpm5 T A 7: 143,074,569 M990L probably benign Het
Vmn2r99 A T 17: 19,382,623 T547S probably damaging Het
Vps13b T C 15: 35,446,770 probably benign Het
Other mutations in Guca1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01684:Guca1a APN 17 47395143 missense probably null 0.83
IGL01969:Guca1a APN 17 47400343 missense probably damaging 0.99
IGL02441:Guca1a APN 17 47394653 unclassified probably benign
IGL03273:Guca1a APN 17 47395173 missense probably benign 0.00
R1216:Guca1a UTSW 17 47395712 unclassified probably benign
R1666:Guca1a UTSW 17 47400242 missense probably damaging 1.00
R4849:Guca1a UTSW 17 47394737 missense possibly damaging 0.82
R5433:Guca1a UTSW 17 47400370 missense probably damaging 0.99
R6996:Guca1a UTSW 17 47395177 missense probably benign 0.05
Z1088:Guca1a UTSW 17 47400410 missense probably benign
Z1176:Guca1a UTSW 17 47400410 missense probably benign
Z1177:Guca1a UTSW 17 47400410 missense probably benign
Posted On2013-06-21