Incidental Mutation 'IGL01684:Guca1a'
ID 103878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Guca1a
Ensembl Gene ENSMUSG00000023982
Gene Name guanylate cyclase activator 1a (retina)
Synonyms mGCAP1, Guca1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.164) question?
Stock # IGL01684
Quality Score
Status
Chromosome 17
Chromosomal Location 47705483-47711509 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47706068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 137 (D137G)
Ref Sequence ENSEMBL: ENSMUSP00000060027 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024774] [ENSMUST00000059348] [ENSMUST00000145462]
AlphaFold P43081
Predicted Effect probably benign
Transcript: ENSMUST00000024774
SMART Domains Protein: ENSMUSP00000024774
Gene: ENSMUSG00000023979

DomainStartEndE-ValueType
EFh 57 85 6.35e-4 SMART
EFh 93 121 3.65e-4 SMART
EFh 146 174 5.83e-3 SMART
Predicted Effect probably null
Transcript: ENSMUST00000059348
AA Change: D137G

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000060027
Gene: ENSMUSG00000023982
AA Change: D137G

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
Predicted Effect probably benign
Transcript: ENSMUST00000145462
SMART Domains Protein: ENSMUSP00000126799
Gene: ENSMUSG00000023979

DomainStartEndE-ValueType
EFh 57 85 6.35e-4 SMART
EFh 93 121 3.65e-4 SMART
low complexity region 180 190 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
Ammecr1l G T 18: 31,904,821 (GRCm39) V21F probably damaging Het
Aox1 G A 1: 58,116,740 (GRCm39) probably null Het
BC024139 A G 15: 76,008,885 (GRCm39) L283P probably damaging Het
Cacna1h C T 17: 25,607,690 (GRCm39) G876S probably damaging Het
Ccdc66 T C 14: 27,222,206 (GRCm39) E179G possibly damaging Het
Ckap5 T G 2: 91,385,699 (GRCm39) D182E probably benign Het
Clk1 A G 1: 58,456,424 (GRCm39) probably null Het
Dhx34 G A 7: 15,937,204 (GRCm39) T831M probably damaging Het
Enox1 T C 14: 77,816,533 (GRCm39) I171T possibly damaging Het
Fscn2 G A 11: 120,258,131 (GRCm39) R351H probably damaging Het
Gabbr2 G A 4: 46,736,501 (GRCm39) S460L probably benign Het
Gramd1a A G 7: 30,838,330 (GRCm39) S308P possibly damaging Het
Heatr5a G A 12: 52,002,294 (GRCm39) T214I probably benign Het
Klf7 T C 1: 64,160,051 (GRCm39) probably benign Het
Macf1 A G 4: 123,359,723 (GRCm39) S1854P probably damaging Het
Mau2 A T 8: 70,481,895 (GRCm39) probably benign Het
Mdn1 A G 4: 32,726,857 (GRCm39) I2639V probably benign Het
Mylk A G 16: 34,792,310 (GRCm39) M1544V possibly damaging Het
Ogdh G T 11: 6,292,546 (GRCm39) V420L probably damaging Het
Or13a21 T C 7: 139,998,828 (GRCm39) N286S probably damaging Het
Or5b105 A G 19: 13,080,353 (GRCm39) F105S possibly damaging Het
Pcm1 A G 8: 41,710,960 (GRCm39) T77A probably benign Het
Piezo2 T A 18: 63,216,241 (GRCm39) I947F probably damaging Het
Prrc2c A T 1: 162,534,031 (GRCm39) probably benign Het
Ptch2 A G 4: 116,961,984 (GRCm39) E107G probably damaging Het
Rmdn3 T C 2: 118,978,055 (GRCm39) E182G probably damaging Het
Rpl23a-ps3 C T 14: 33,892,745 (GRCm39) noncoding transcript Het
Sorl1 T C 9: 41,892,007 (GRCm39) D1881G probably damaging Het
Tbc1d19 A G 5: 54,014,221 (GRCm39) N283S probably benign Het
Tcf20 A G 15: 82,741,361 (GRCm39) F30S probably damaging Het
Tiparp A T 3: 65,460,754 (GRCm39) K581I probably damaging Het
Tle3 T C 9: 61,310,728 (GRCm39) probably benign Het
Ubr3 C A 2: 69,846,502 (GRCm39) Y1608* probably null Het
Vmn1r59 T C 7: 5,457,299 (GRCm39) T154A probably benign Het
Vta1 A G 10: 14,559,875 (GRCm39) I115T probably damaging Het
Wwtr1 C A 3: 57,483,210 (GRCm39) R31L probably damaging Het
Zfp385b T C 2: 77,550,019 (GRCm39) D22G possibly damaging Het
Zfp516 A G 18: 82,975,326 (GRCm39) E508G probably damaging Het
Zfp735 T A 11: 73,581,191 (GRCm39) V76E possibly damaging Het
Other mutations in Guca1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Guca1a APN 17 47,711,309 (GRCm39) missense probably damaging 0.99
IGL01969:Guca1a APN 17 47,711,268 (GRCm39) missense probably damaging 0.99
IGL02441:Guca1a APN 17 47,705,578 (GRCm39) unclassified probably benign
IGL03273:Guca1a APN 17 47,706,098 (GRCm39) missense probably benign 0.00
R1216:Guca1a UTSW 17 47,706,637 (GRCm39) unclassified probably benign
R1666:Guca1a UTSW 17 47,711,167 (GRCm39) missense probably damaging 1.00
R4849:Guca1a UTSW 17 47,705,662 (GRCm39) missense possibly damaging 0.82
R5433:Guca1a UTSW 17 47,711,295 (GRCm39) missense probably damaging 0.99
R6996:Guca1a UTSW 17 47,706,102 (GRCm39) missense probably benign 0.05
R8419:Guca1a UTSW 17 47,706,480 (GRCm39) missense probably damaging 1.00
R9520:Guca1a UTSW 17 47,711,335 (GRCm39) missense probably benign 0.12
Z1088:Guca1a UTSW 17 47,711,335 (GRCm39) missense probably benign
Z1176:Guca1a UTSW 17 47,711,335 (GRCm39) missense probably benign
Z1177:Guca1a UTSW 17 47,711,335 (GRCm39) missense probably benign
Posted On 2014-01-21