Incidental Mutation 'R1631:Gucy1a2'
ID 172799
Institutional Source Beutler Lab
Gene Symbol Gucy1a2
Ensembl Gene ENSMUSG00000041624
Gene Name guanylate cyclase 1, soluble, alpha 2
Synonyms 6330407I18Rik, A230060L24Rik
MMRRC Submission 039668-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.279) question?
Stock # R1631 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 3532778-3894736 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3533052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 84 (N84D)
Ref Sequence ENSEMBL: ENSMUSP00000111398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115733]
AlphaFold F8VQK3
Predicted Effect probably damaging
Transcript: ENSMUST00000115733
AA Change: N84D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111398
Gene: ENSMUSG00000041624
AA Change: N84D

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: ENSMUST00000213060
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 93.0%
Validation Efficiency
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,756,316 (GRCm39) S320T probably benign Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Als2 T C 1: 59,257,226 (GRCm39) E12G probably benign Het
Arhgef10 A T 8: 14,997,157 (GRCm39) D321V probably damaging Het
Atp8a1 T G 5: 67,906,395 (GRCm39) probably null Het
Avil A G 10: 126,846,494 (GRCm39) probably null Het
C2cd3 G A 7: 100,021,704 (GRCm39) probably null Het
Cdhr18 C T 14: 13,829,796 (GRCm38) E649K probably damaging Het
Col18a1 G A 10: 76,895,131 (GRCm39) P1177S probably damaging Het
Copb2 T A 9: 98,462,213 (GRCm39) F428L probably benign Het
Cpa1 A G 6: 30,640,923 (GRCm39) E138G probably damaging Het
Ctsm T C 13: 61,686,249 (GRCm39) I12V possibly damaging Het
Dctn1 A G 6: 83,174,578 (GRCm39) Q967R possibly damaging Het
Dok2 T C 14: 71,014,393 (GRCm39) Y194H probably damaging Het
Ezh2 C T 6: 47,554,592 (GRCm39) M1I probably null Het
Fkbp8 T A 8: 70,984,282 (GRCm39) L210Q probably damaging Het
Fpr1 T A 17: 18,097,263 (GRCm39) Q242L probably benign Het
Gal3st2b T A 1: 93,868,505 (GRCm39) D243E probably damaging Het
Gm5422 A G 10: 31,125,802 (GRCm39) noncoding transcript Het
Hsd3b5 A C 3: 98,529,393 (GRCm39) V79G probably damaging Het
Htr6 A T 4: 138,788,804 (GRCm39) V417E probably benign Het
Ifnar2 G A 16: 91,188,755 (GRCm39) V79I probably benign Het
Ighv10-1 T C 12: 114,443,102 (GRCm39) probably benign Het
Itpr2 A G 6: 146,081,788 (GRCm39) F182L probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lama3 A G 18: 12,540,551 (GRCm39) Y285C probably damaging Het
Lamc2 C A 1: 153,034,680 (GRCm39) V108L possibly damaging Het
Lrrc14b A G 13: 74,509,373 (GRCm39) probably null Het
Magi3 T C 3: 103,958,493 (GRCm39) T531A probably benign Het
Mapre2 A G 18: 23,966,011 (GRCm39) Y32C probably damaging Het
Med1 C T 11: 98,046,452 (GRCm39) probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nt5el C A 13: 105,218,749 (GRCm39) Q28K probably benign Het
Or10a3b A C 7: 108,445,064 (GRCm39) L51R probably damaging Het
Or51h1 A G 7: 102,308,408 (GRCm39) I127V probably damaging Het
Or5h23 G A 16: 58,906,408 (GRCm39) T146I probably benign Het
Or7a35 A T 10: 78,853,239 (GRCm39) I28L probably benign Het
Pde1b A G 15: 103,430,099 (GRCm39) T143A probably damaging Het
Pkhd1 T C 1: 20,593,121 (GRCm39) D1664G probably benign Het
Plod3 C T 5: 137,017,847 (GRCm39) R208W probably damaging Het
Pstk G A 7: 130,986,271 (GRCm39) A277T possibly damaging Het
Qrich1 T C 9: 108,411,684 (GRCm39) V403A probably damaging Het
Rad21 C A 15: 51,833,436 (GRCm39) V348F probably damaging Het
Sacs T A 14: 61,448,181 (GRCm39) L3409* probably null Het
Setd4 T A 16: 93,390,136 (GRCm39) K98* probably null Het
Skint5 A G 4: 113,341,123 (GRCm39) V1385A probably benign Het
Stam C A 2: 14,151,059 (GRCm39) S472* probably null Het
Stx2 A G 5: 129,069,289 (GRCm39) F141L probably damaging Het
Tia1 A G 6: 86,397,330 (GRCm39) D101G probably damaging Het
Ttc21a T A 9: 119,783,228 (GRCm39) probably null Het
Usp34 T A 11: 23,410,651 (GRCm39) N2700K 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
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
R2166:Gucy1a2 UTSW 9 3,579,513 (GRCm39) splice site probably null
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'- CTCCAGCAGCATGTCTCGAAGAAAG -3'
(R):5'- TTAGGGACCACGAAGAACTCAGGACC -3'

Sequencing Primer
(F):5'- AGCTCTGACTACCTGGAGAC -3'
(R):5'- CTCAGGACCAAAGAGGGTG -3'
Posted On 2014-04-24