Incidental Mutation 'R9397:Guca1b'
ID 710913
Institutional Source Beutler Lab
Gene Symbol Guca1b
Ensembl Gene ENSMUSG00000023979
Gene Name guanylate cyclase activator 1B
Synonyms GCAP2, GCAP2 (retina)
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.547) question?
Stock # R9397 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 47696318-47703892 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 47696560 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 49 (T49M)
Ref Sequence ENSEMBL: ENSMUSP00000024774 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024774] [ENSMUST00000145462]
AlphaFold Q8VBV8
Predicted Effect probably benign
Transcript: ENSMUST00000024774
AA Change: T49M

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000024774
Gene: ENSMUSG00000023979
AA Change: T49M

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 possibly damaging
Transcript: ENSMUST00000145462
AA Change: T49M

PolyPhen 2 Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000126799
Gene: ENSMUSG00000023979
AA Change: T49M

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit abnormal rod electrophysiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930555G01Rik T G 14: 5,051,639 (GRCm38) V66G possibly damaging Het
A630001G21Rik G T 1: 85,653,002 (GRCm39) Y55* probably null Het
Abca8a G A 11: 109,921,173 (GRCm39) T1474I probably damaging Het
Acaca T G 11: 84,259,551 (GRCm39) I1962S probably damaging Het
Acap1 A T 11: 69,775,672 (GRCm39) S455T probably damaging Het
Acbd7 G A 2: 3,337,259 (GRCm39) probably null Het
Adamts9 A G 6: 92,878,444 (GRCm39) L541P probably damaging Het
Ankrd49 T C 9: 14,692,711 (GRCm39) N151S probably benign Het
Apcdd1 C T 18: 63,055,731 (GRCm39) probably benign Het
Arhgap27 T C 11: 103,231,115 (GRCm39) D58G probably damaging Het
Btbd18 G T 2: 84,497,810 (GRCm39) A483S probably damaging Het
C2 A G 17: 35,094,965 (GRCm39) S257P probably damaging Het
Catsper3 T A 13: 55,946,725 (GRCm39) Y141N probably damaging Het
Cfap54 G A 10: 92,833,147 (GRCm39) L1160F probably damaging Het
Chst13 G A 6: 90,286,506 (GRCm39) P152L probably damaging Het
Cyp4f14 C T 17: 33,130,516 (GRCm39) G141D probably damaging Het
Duox1 C T 2: 122,150,783 (GRCm39) T286I possibly damaging Het
Epc2 G A 2: 49,378,822 (GRCm39) G92E probably damaging Het
Fmnl3 C T 15: 99,225,938 (GRCm39) probably null Het
Glyatl3 G A 17: 41,223,565 (GRCm39) R59* probably null Het
Gm3633 T A 14: 42,460,400 (GRCm39) Q181L Het
Hdac9 T A 12: 34,353,275 (GRCm39) H645L probably damaging Het
Hhip T C 8: 80,719,112 (GRCm39) R472G probably benign Het
Ifi203 A G 1: 173,765,547 (GRCm39) V9A probably damaging Het
Igkv9-123 A T 6: 67,931,443 (GRCm39) V41D probably damaging Het
Il5ra T A 6: 106,721,258 (GRCm39) T14S probably benign Het
Ints2 A G 11: 86,135,311 (GRCm39) S368P probably benign Het
Kat6b T A 14: 21,675,244 (GRCm39) S470T possibly damaging Het
Kmt2d A G 15: 98,747,994 (GRCm39) V3110A unknown Het
Lama2 T C 10: 26,981,117 (GRCm39) N1846D probably benign Het
Lrp1b T A 2: 40,640,922 (GRCm39) E3507D Het
Ly6g6c A G 17: 35,288,317 (GRCm39) N63S probably benign Het
Naprt C T 15: 75,763,859 (GRCm39) V354I probably null Het
Nars1 A G 18: 64,642,327 (GRCm39) S172P probably benign Het
Odr4 C T 1: 150,238,616 (GRCm39) A434T probably damaging Het
Or6c5b A G 10: 129,245,909 (GRCm39) R225G possibly damaging Het
Or7e177 T C 9: 20,211,748 (GRCm39) I85T possibly damaging Het
Pcdhb6 A G 18: 37,469,353 (GRCm39) D758G probably benign Het
Pkp4 G A 2: 59,148,856 (GRCm39) W536* probably null Het
Polr3b C T 10: 84,467,653 (GRCm39) L78F possibly damaging Het
Rasa4 T A 5: 136,129,836 (GRCm39) V272E possibly damaging Het
Syne2 A G 12: 76,040,849 (GRCm39) T3836A possibly damaging Het
Tbpl2 C T 2: 23,966,070 (GRCm39) V308I possibly damaging Het
Tcea1 T A 1: 4,962,141 (GRCm39) I176K probably damaging Het
Try5 A T 6: 41,289,314 (GRCm39) F87L probably benign Het
Ttc8 G T 12: 98,942,692 (GRCm39) G411* probably null Het
Vmn2r115 G A 17: 23,564,152 (GRCm39) W108* probably null Het
Zdhhc13 C T 7: 48,476,628 (GRCm39) T581I probably benign Het
Zfp777 G T 6: 48,021,190 (GRCm39) T144K probably benign Het
Other mutations in Guca1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02490:Guca1b APN 17 47,700,190 (GRCm39) splice site probably benign
R1716:Guca1b UTSW 17 47,702,126 (GRCm39) unclassified probably benign
R5283:Guca1b UTSW 17 47,702,195 (GRCm39) unclassified probably benign
R7106:Guca1b UTSW 17 47,702,236 (GRCm39) nonsense probably null
R7908:Guca1b UTSW 17 47,702,102 (GRCm39) missense unknown
R8911:Guca1b UTSW 17 47,700,044 (GRCm39) missense probably benign 0.24
R9169:Guca1b UTSW 17 47,702,827 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- GCTGAGTCTCTTTCTAAAAGCCG -3'
(R):5'- GAAAACCCAGACTGTGTGCC -3'

Sequencing Primer
(F):5'- AGTCTCTTTCTAAAAGCCGGGATG -3'
(R):5'- TTCGGCCCTCAGGAAGATGTG -3'
Posted On 2022-04-18