Incidental Mutation 'R2166:Gucy1a2'
ID 235494
Institutional Source Beutler Lab
Gene Symbol Gucy1a2
Ensembl Gene ENSMUSG00000041624
Gene Name guanylate cyclase 1, soluble, alpha 2
Synonyms 6330407I18Rik, A230060L24Rik
MMRRC Submission 040169-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.279) question?
Stock # R2166 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 3532778-3894736 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 3579513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115733]
AlphaFold F8VQK3
Predicted Effect probably null
Transcript: ENSMUST00000115733
SMART Domains Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624

DomainStartEndE-ValueType
low complexity region 2 22 N/A INTRINSIC
low complexity region 38 49 N/A INTRINSIC
low complexity region 51 72 N/A INTRINSIC
Pfam:HNOB 121 268 3e-19 PFAM
PDB:4GJ4|D 316 441 1e-17 PDB
CYCc 483 674 6.58e-93 SMART
low complexity region 701 715 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212705
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213060
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Mice homozygous for a null mutation display normal blood vessel and platelet physiology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,716,762 (GRCm39) F779I probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Birc6 A T 17: 74,942,790 (GRCm39) T2761S probably benign Het
Cav1 A T 6: 17,339,430 (GRCm39) I141F possibly damaging Het
Cmklr2 A G 1: 63,223,107 (GRCm39) F43L probably benign Het
Gm973 A G 1: 59,565,898 (GRCm39) D39G possibly damaging Het
Il1b A T 2: 129,206,968 (GRCm39) M264K probably damaging Het
Itpr1 A G 6: 108,365,186 (GRCm39) Y38C probably damaging Het
Kcnb2 A C 1: 15,781,540 (GRCm39) D804A possibly damaging Het
Kcnt1 T A 2: 25,781,195 (GRCm39) probably benign Het
Krt6b T C 15: 101,587,050 (GRCm39) probably null Het
Mef2a A G 7: 66,915,870 (GRCm39) V144A probably damaging Het
Mroh3 A G 1: 136,113,791 (GRCm39) M666T probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nalcn T A 14: 123,607,363 (GRCm39) Y702F probably benign Het
Napepld T A 5: 21,888,230 (GRCm39) K73I possibly damaging Het
Or5h23 T A 16: 58,905,949 (GRCm39) K299I probably benign Het
Or8g21 G A 9: 38,906,513 (GRCm39) Q73* probably null Het
Pappa A C 4: 65,074,682 (GRCm39) D412A probably damaging Het
Plbd1 A G 6: 136,590,788 (GRCm39) probably null Het
Ppp1r10 G T 17: 36,241,481 (GRCm39) R752L unknown Het
Prep T C 10: 44,968,751 (GRCm39) probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptprz1 A G 6: 23,045,632 (GRCm39) N2134S possibly damaging Het
Rhbdl3 A G 11: 80,210,523 (GRCm39) Y92C probably damaging Het
Rtkn2 T C 10: 67,877,526 (GRCm39) S532P possibly damaging Het
Rtl1 T A 12: 109,556,988 (GRCm39) H1617L probably damaging Het
Skint6 T A 4: 112,711,649 (GRCm39) N956I probably benign Het
Slc13a2 A G 11: 78,293,901 (GRCm39) V287A probably benign Het
Slc9a2 A G 1: 40,781,928 (GRCm39) K386E probably damaging Het
Spata20 G A 11: 94,369,930 (GRCm39) H789Y probably benign Het
Stk19 A G 17: 35,051,486 (GRCm39) I23T possibly damaging Het
Tonsl A G 15: 76,521,513 (GRCm39) I293T probably benign Het
Topbp1 A G 9: 103,190,128 (GRCm39) probably null Het
Trappc2l T A 8: 123,339,901 (GRCm39) S44T probably benign Het
Tsr1 A G 11: 74,798,280 (GRCm39) probably null Het
Ugdh A G 5: 65,574,357 (GRCm39) probably benign Het
Unc119 A G 11: 78,238,161 (GRCm39) probably null Het
Zkscan14 G A 5: 145,132,944 (GRCm39) P196S probably benign Het
Zmat4 T C 8: 24,392,152 (GRCm39) L36P probably damaging Het
Other mutations in Gucy1a2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00549:Gucy1a2 APN 9 3,759,418 (GRCm39) missense probably damaging 1.00
IGL00768:Gucy1a2 APN 9 3,635,111 (GRCm39) missense possibly damaging 0.65
IGL00928:Gucy1a2 APN 9 3,759,777 (GRCm39) missense probably damaging 1.00
IGL01520:Gucy1a2 APN 9 3,759,561 (GRCm39) missense probably damaging 0.99
IGL01566:Gucy1a2 APN 9 3,634,661 (GRCm39) missense probably damaging 1.00
IGL01819:Gucy1a2 APN 9 3,865,409 (GRCm39) nonsense probably null
IGL01874:Gucy1a2 APN 9 3,797,343 (GRCm39) missense probably damaging 1.00
IGL02442:Gucy1a2 APN 9 3,865,385 (GRCm39) missense probably damaging 1.00
IGL02608:Gucy1a2 APN 9 3,635,113 (GRCm39) missense probably damaging 0.99
IGL02612:Gucy1a2 APN 9 3,894,556 (GRCm39) missense possibly damaging 0.74
IGL02719:Gucy1a2 APN 9 3,894,719 (GRCm39) utr 3 prime probably benign
IGL02823:Gucy1a2 APN 9 3,894,656 (GRCm39) missense possibly damaging 0.79
IGL02852:Gucy1a2 APN 9 3,759,691 (GRCm39) missense probably benign 0.31
IGL02892:Gucy1a2 APN 9 3,634,471 (GRCm39) missense probably damaging 1.00
IGL02964:Gucy1a2 APN 9 3,759,542 (GRCm39) missense probably damaging 0.96
Rico UTSW 9 3,579,513 (GRCm39) splice site probably null
R0096:Gucy1a2 UTSW 9 3,758,928 (GRCm39) intron probably benign
R0417:Gucy1a2 UTSW 9 3,759,484 (GRCm39) missense possibly damaging 0.80
R0920:Gucy1a2 UTSW 9 3,759,472 (GRCm39) missense probably damaging 1.00
R1146:Gucy1a2 UTSW 9 3,759,830 (GRCm39) missense probably damaging 1.00
R1146:Gucy1a2 UTSW 9 3,759,830 (GRCm39) missense probably damaging 1.00
R1384:Gucy1a2 UTSW 9 3,759,620 (GRCm39) missense probably damaging 1.00
R1631:Gucy1a2 UTSW 9 3,533,052 (GRCm39) missense probably damaging 1.00
R1711:Gucy1a2 UTSW 9 3,759,622 (GRCm39) missense probably benign 0.04
R1730:Gucy1a2 UTSW 9 3,634,957 (GRCm39) missense probably benign 0.36
R1800:Gucy1a2 UTSW 9 3,582,685 (GRCm39) missense possibly damaging 0.62
R2069:Gucy1a2 UTSW 9 3,582,697 (GRCm39) missense probably damaging 1.00
R2357:Gucy1a2 UTSW 9 3,797,299 (GRCm39) missense probably damaging 0.97
R3401:Gucy1a2 UTSW 9 3,635,154 (GRCm39) missense probably benign 0.00
R3953:Gucy1a2 UTSW 9 3,582,704 (GRCm39) splice site probably benign
R4420:Gucy1a2 UTSW 9 3,634,640 (GRCm39) missense probably damaging 1.00
R4731:Gucy1a2 UTSW 9 3,759,424 (GRCm39) missense probably benign 0.02
R4732:Gucy1a2 UTSW 9 3,759,424 (GRCm39) missense probably benign 0.02
R4733:Gucy1a2 UTSW 9 3,759,424 (GRCm39) missense probably benign 0.02
R4931:Gucy1a2 UTSW 9 3,759,588 (GRCm39) missense probably damaging 1.00
R5094:Gucy1a2 UTSW 9 3,865,443 (GRCm39) missense probably damaging 1.00
R5852:Gucy1a2 UTSW 9 3,865,460 (GRCm39) missense probably damaging 0.99
R6005:Gucy1a2 UTSW 9 3,865,518 (GRCm39) splice site probably null
R7667:Gucy1a2 UTSW 9 3,759,580 (GRCm39) missense probably damaging 1.00
R7841:Gucy1a2 UTSW 9 3,634,766 (GRCm39) missense probably benign 0.03
R7866:Gucy1a2 UTSW 9 3,532,804 (GRCm39) start codon destroyed probably null
R8525:Gucy1a2 UTSW 9 3,865,365 (GRCm39) missense probably damaging 1.00
R8802:Gucy1a2 UTSW 9 3,635,050 (GRCm39) missense probably benign 0.03
R9098:Gucy1a2 UTSW 9 3,634,489 (GRCm39) missense probably benign 0.00
R9127:Gucy1a2 UTSW 9 3,634,553 (GRCm39) missense probably damaging 1.00
Z1176:Gucy1a2 UTSW 9 3,635,156 (GRCm39) missense probably damaging 1.00
Z1177:Gucy1a2 UTSW 9 3,797,245 (GRCm39) missense probably damaging 0.97
Predicted Primers PCR Primer
(F):5'- TGGGAAACTGGGCAATTGC -3'
(R):5'- CAAAGCCTCTATTTGGTACTGAC -3'

Sequencing Primer
(F):5'- AACTGGGCAATTGCTGACTG -3'
(R):5'- AAGCCTCTATTTGGTACTGACAATCC -3'
Posted On 2014-10-01