Incidental Mutation 'IGL01969:Guca1a'
ID181630
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: 0.158) question?
Stock #IGL01969
Quality Score
Status
Chromosome17
Chromosomal Location47394560-47400584 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 47400343 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 26 (M26K)
Ref Sequence ENSEMBL: ENSMUSP00000060027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059348]
Predicted Effect probably damaging
Transcript: ENSMUST00000059348
AA Change: M26K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000060027
Gene: ENSMUSG00000023982
AA Change: M26K

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l1 C A 8: 123,480,431 P74H probably damaging Het
Aire T A 10: 78,042,982 D77V probably damaging Het
Ank2 T A 3: 126,953,223 H571L possibly damaging Het
Apol10b T C 15: 77,588,685 probably null Het
Cacna2d2 A T 9: 107,509,216 M181L probably benign Het
Ccnl1 T C 3: 65,948,487 probably benign Het
Chd9 A G 8: 91,033,510 E1961G possibly damaging Het
Dnajc12 C A 10: 63,395,830 H42N probably damaging Het
Eml4 T C 17: 83,445,980 V248A possibly damaging Het
Epha10 A C 4: 124,885,877 K172T probably damaging Het
Fat1 T C 8: 44,952,599 Y796H probably damaging Het
Gpr176 A C 2: 118,279,637 F380L probably damaging Het
Gucy2g T G 19: 55,227,438 M501L probably benign Het
Herc2 T C 7: 56,185,831 probably benign Het
Itgav A G 2: 83,803,283 E1028G probably damaging Het
Itpr1 A G 6: 108,377,691 T179A probably damaging Het
Lpin2 A G 17: 71,231,507 T383A probably benign Het
Midn A G 10: 80,155,259 T325A probably benign Het
Mpdz A G 4: 81,358,724 Y788H probably damaging Het
Muc1 A T 3: 89,232,006 D571V probably damaging Het
Myo3a A T 2: 22,297,688 H316L probably benign Het
Nagpa T C 16: 5,195,889 K362E probably benign Het
Ola1 G A 2: 73,100,146 A266V probably benign Het
Olfr1256 A G 2: 89,835,720 I75T probably benign Het
Olfr1447 C A 19: 12,901,052 A243S possibly damaging Het
Olfr393 T C 11: 73,847,609 N172S possibly damaging Het
Otof A G 5: 30,382,483 probably benign Het
Pi4ka A C 16: 17,378,483 V105G probably benign Het
Plppr4 G T 3: 117,328,359 T190K probably damaging Het
Pnpla3 G A 15: 84,179,224 A268T probably benign Het
Ppp6r2 C T 15: 89,275,510 H467Y probably damaging Het
Prkd2 C T 7: 16,865,757 T715M probably damaging Het
Rusc2 A G 4: 43,415,738 N348S probably benign Het
Ska3 A G 14: 57,811,662 V284A probably benign Het
Slc23a1 A T 18: 35,624,754 V199D possibly damaging Het
Slc6a13 T C 6: 121,335,642 L445P probably damaging Het
Smo A T 6: 29,755,172 probably null Het
Tmem131 A G 1: 36,825,460 L564S possibly damaging Het
Ttc23l G A 15: 10,551,434 Q69* probably null Het
Other mutations in Guca1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Guca1a APN 17 47400384 missense probably damaging 0.99
IGL01684:Guca1a APN 17 47395143 missense probably null 0.83
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 On2014-05-07