Incidental Mutation 'R1859:Adcy10'
ID 204183
Institutional Source Beutler Lab
Gene Symbol Adcy10
Ensembl Gene ENSMUSG00000026567
Gene Name adenylate cyclase 10
Synonyms soluble adenylyl cyclase, Sacy, 4930431D04Rik, sAC
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.255) question?
Stock # R1859 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 165312752-165404343 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 165349530 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 467 (E467G)
Ref Sequence ENSEMBL: ENSMUSP00000137959 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027852] [ENSMUST00000111439] [ENSMUST00000111440] [ENSMUST00000148550] [ENSMUST00000155216]
AlphaFold Q8C0T9
Predicted Effect probably damaging
Transcript: ENSMUST00000027852
AA Change: E467G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: E467G

DomainStartEndE-ValueType
CYCc 7 206 3.27e-3 SMART
Pfam:Guanylate_cyc 285 442 2.3e-12 PFAM
low complexity region 838 847 N/A INTRINSIC
low complexity region 899 922 N/A INTRINSIC
low complexity region 1149 1164 N/A INTRINSIC
Blast:TPR 1295 1328 6e-9 BLAST
Blast:TPR 1510 1543 6e-12 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000111439
AA Change: E467G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: E467G

DomainStartEndE-ValueType
CYCc 7 206 3.27e-3 SMART
Pfam:Guanylate_cyc 286 420 1.9e-12 PFAM
low complexity region 838 847 N/A INTRINSIC
low complexity region 899 922 N/A INTRINSIC
low complexity region 1149 1164 N/A INTRINSIC
Blast:TPR 1295 1328 6e-9 BLAST
Blast:TPR 1510 1543 7e-12 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000111440
AA Change: E467G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: E467G

DomainStartEndE-ValueType
CYCc 7 206 3.27e-3 SMART
Pfam:Guanylate_cyc 286 420 1.9e-12 PFAM
low complexity region 838 847 N/A INTRINSIC
low complexity region 899 922 N/A INTRINSIC
low complexity region 1149 1164 N/A INTRINSIC
Blast:TPR 1295 1328 6e-9 BLAST
Blast:TPR 1510 1543 7e-12 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000148550
AA Change: E467G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
AA Change: E467G

DomainStartEndE-ValueType
CYCc 7 206 3.27e-3 SMART
Pfam:Guanylate_cyc 285 420 4.3e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000155216
SMART Domains Protein: ENSMUSP00000137744
Gene: ENSMUSG00000026567

DomainStartEndE-ValueType
PDB:4OZ3|A 1 98 2e-51 PDB
Blast:CYCc 7 98 2e-61 BLAST
SCOP:d1azsb_ 43 98 9e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193149
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195194
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.3%
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 belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null male mutants are infertile with a severe sperm motility defect, female null mutants are fertile. Females exhibit increased cholesterol and triglyceride levels while both sexes have a slight increase in heart rate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001K19Rik C T 12: 110,637,268 (GRCm39) probably benign Het
Alkbh8 A G 9: 3,385,499 (GRCm39) D597G probably benign Het
Alpk1 T A 3: 127,474,749 (GRCm39) H418L possibly damaging Het
Ano5 G T 7: 51,196,581 (GRCm39) V138L probably damaging Het
Aspg T A 12: 112,087,606 (GRCm39) I319K possibly damaging Het
Atp9b T C 18: 80,793,135 (GRCm39) T970A possibly damaging Het
Brd10 A C 19: 29,732,323 (GRCm39) C230G possibly damaging Het
C4b T A 17: 34,954,527 (GRCm39) M881L probably benign Het
Cd209c A T 8: 3,994,953 (GRCm39) N70K probably benign Het
Cdca5 T C 19: 6,140,124 (GRCm39) V95A possibly damaging Het
Cds2 A G 2: 132,144,115 (GRCm39) Y297C probably damaging Het
Celsr2 C T 3: 108,303,946 (GRCm39) G2371S probably damaging Het
Cemip2 T C 19: 21,825,341 (GRCm39) V1213A possibly damaging Het
Chd5 T A 4: 152,464,980 (GRCm39) I1557N probably benign Het
Cntn5 C T 9: 9,972,839 (GRCm39) E266K probably damaging Het
Crtam G A 9: 40,884,900 (GRCm39) T363M possibly damaging Het
Dnah2 A G 11: 69,328,712 (GRCm39) S3298P probably damaging Het
Dok1 A T 6: 83,009,226 (GRCm39) Y209N probably damaging Het
Dpp10 T C 1: 123,281,333 (GRCm39) D561G possibly damaging Het
Drosha A G 15: 12,878,804 (GRCm39) K710R probably benign Het
Dse T C 10: 34,029,225 (GRCm39) T622A probably benign Het
Duxf4 A G 10: 58,071,602 (GRCm39) V204A probably benign Het
Ercc6 T C 14: 32,248,735 (GRCm39) S429P probably damaging Het
Fam135a A T 1: 24,069,306 (GRCm39) V521E probably damaging Het
Fbxl7 A T 15: 26,543,279 (GRCm39) L456Q probably damaging Het
Fbxo38 A G 18: 62,648,489 (GRCm39) I683T probably damaging Het
Foxc2 G T 8: 121,843,364 (GRCm39) R4L probably damaging Het
Glyctk C T 9: 106,034,731 (GRCm39) V112I probably benign Het
Guf1 G T 5: 69,725,803 (GRCm39) G481* probably null Het
Heatr1 T C 13: 12,418,040 (GRCm39) L324S probably damaging Het
Hectd1 A G 12: 51,853,350 (GRCm39) L57P probably damaging Het
Hmcn1 A T 1: 150,532,944 (GRCm39) C3080S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ifit1 T A 19: 34,624,944 (GRCm39) F27I probably benign Het
Ift20 G T 11: 78,430,860 (GRCm39) E68* probably null Het
Itsn1 A G 16: 91,686,042 (GRCm39) probably benign Het
Ksr2 T A 5: 117,553,006 (GRCm39) L38Q probably damaging Het
Lama2 A T 10: 26,907,078 (GRCm39) M2361K possibly damaging Het
Lrrc56 A G 7: 140,787,421 (GRCm39) M353V probably benign Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Map3k9 A T 12: 81,771,256 (GRCm39) S800R possibly damaging Het
Mef2a A G 7: 66,915,766 (GRCm39) S179P probably damaging Het
Micall1 A G 15: 79,007,145 (GRCm39) probably benign Het
Mpg A G 11: 32,181,957 (GRCm39) probably null Het
Mpp7 A T 18: 7,350,967 (GRCm39) *577K probably null Het
Msh4 G T 3: 153,611,517 (GRCm39) H35Q probably benign Het
Mst1 G A 9: 107,961,545 (GRCm39) V601I probably benign Het
Myh10 T A 11: 68,636,239 (GRCm39) N246K probably benign Het
Myom3 C A 4: 135,506,707 (GRCm39) N493K probably benign Het
Mypn T C 10: 62,981,969 (GRCm39) D537G probably benign Het
Ncan A T 8: 70,567,998 (GRCm39) M38K possibly damaging Het
Ndufaf6 G T 4: 11,053,474 (GRCm39) H277Q probably benign Het
Nos1 A T 5: 118,043,527 (GRCm39) N601Y possibly damaging Het
Nrxn2 G A 19: 6,538,825 (GRCm39) V794I probably benign Het
Or10q12 T A 19: 13,746,088 (GRCm39) Y127* probably null Het
Or13a17 T A 7: 140,271,571 (GRCm39) V251E possibly damaging Het
Or13c7b A T 4: 43,820,779 (GRCm39) I194N possibly damaging Het
Or2y17 T C 11: 49,232,211 (GRCm39) L284P probably damaging Het
Or8h9 T C 2: 86,789,425 (GRCm39) I126V probably damaging Het
Parp4 T C 14: 56,886,372 (GRCm39) V1817A unknown Het
Pfdn1 C A 18: 36,584,153 (GRCm39) M60I probably benign Het
Ppp1r3c T C 19: 36,711,011 (GRCm39) N253S probably damaging Het
Prdm5 A G 6: 65,808,263 (GRCm39) I42V probably benign Het
Prom2 T G 2: 127,383,017 (GRCm39) Q75P probably damaging Het
Ptpn23 T C 9: 110,217,938 (GRCm39) D669G possibly damaging Het
Rag1 T C 2: 101,474,407 (GRCm39) D245G probably benign Het
Rpl22l1 T A 3: 28,860,747 (GRCm39) probably null Het
Sars2 T C 7: 28,443,737 (GRCm39) V113A probably damaging Het
Sbno2 T A 10: 79,894,473 (GRCm39) K1067* probably null Het
Sec61g A G 11: 16,456,371 (GRCm39) probably null Het
Slc4a11 A T 2: 130,529,932 (GRCm39) M282K probably benign Het
Slc5a4a T C 10: 76,002,569 (GRCm39) S242P probably benign Het
Sparc A T 11: 55,297,334 (GRCm39) probably null Het
Thra T A 11: 98,646,977 (GRCm39) C33S probably damaging Het
Trrap A T 5: 144,767,761 (GRCm39) T2293S probably benign Het
Ttn T A 2: 76,724,989 (GRCm39) probably benign Het
Vat1l T A 8: 114,998,041 (GRCm39) V195E probably damaging Het
Vmn1r60 T A 7: 5,547,549 (GRCm39) I184F possibly damaging Het
Wdfy4 A G 14: 32,825,940 (GRCm39) I1192T probably damaging Het
Zbtb10 T C 3: 9,345,446 (GRCm39) S737P possibly damaging Het
Zfp553 A G 7: 126,834,517 (GRCm39) E24G probably benign Het
Zscan30 A G 18: 24,104,524 (GRCm39) noncoding transcript Het
Other mutations in Adcy10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Adcy10 APN 1 165,379,483 (GRCm39) missense probably benign 0.45
IGL00731:Adcy10 APN 1 165,400,183 (GRCm39) missense probably benign
IGL01099:Adcy10 APN 1 165,367,411 (GRCm39) missense probably benign 0.21
IGL01464:Adcy10 APN 1 165,374,156 (GRCm39) missense probably damaging 1.00
IGL01729:Adcy10 APN 1 165,340,737 (GRCm39) critical splice donor site probably null
IGL02002:Adcy10 APN 1 165,349,412 (GRCm39) missense probably damaging 1.00
IGL02094:Adcy10 APN 1 165,398,189 (GRCm39) missense probably damaging 1.00
IGL02132:Adcy10 APN 1 165,400,112 (GRCm39) missense probably damaging 0.96
IGL02276:Adcy10 APN 1 165,386,697 (GRCm39) missense probably damaging 0.96
IGL02408:Adcy10 APN 1 165,365,949 (GRCm39) missense probably damaging 1.00
IGL02410:Adcy10 APN 1 165,337,977 (GRCm39) missense probably damaging 1.00
IGL02445:Adcy10 APN 1 165,398,313 (GRCm39) missense possibly damaging 0.85
IGL02470:Adcy10 APN 1 165,395,295 (GRCm39) missense probably damaging 1.00
IGL02551:Adcy10 APN 1 165,370,802 (GRCm39) missense probably damaging 1.00
IGL02606:Adcy10 APN 1 165,347,087 (GRCm39) missense possibly damaging 0.88
IGL02609:Adcy10 APN 1 165,366,044 (GRCm39) nonsense probably null
Bugged UTSW 1 165,391,806 (GRCm39) missense probably damaging 0.99
debye UTSW 1 165,378,930 (GRCm39) critical splice donor site probably null
malaysian UTSW 1 165,340,696 (GRCm39) missense probably benign 0.38
singaporean UTSW 1 165,345,881 (GRCm39) missense probably damaging 0.98
PIT4514001:Adcy10 UTSW 1 165,384,360 (GRCm39) missense probably benign 0.28
R0046:Adcy10 UTSW 1 165,367,403 (GRCm39) missense probably damaging 0.99
R0046:Adcy10 UTSW 1 165,367,403 (GRCm39) missense probably damaging 0.99
R0276:Adcy10 UTSW 1 165,400,160 (GRCm39) missense possibly damaging 0.88
R0324:Adcy10 UTSW 1 165,391,818 (GRCm39) missense probably benign 0.00
R0433:Adcy10 UTSW 1 165,379,591 (GRCm39) missense probably damaging 1.00
R0454:Adcy10 UTSW 1 165,398,297 (GRCm39) missense probably damaging 1.00
R0501:Adcy10 UTSW 1 165,337,959 (GRCm39) missense probably damaging 1.00
R0513:Adcy10 UTSW 1 165,347,088 (GRCm39) missense probably benign 0.04
R0533:Adcy10 UTSW 1 165,391,592 (GRCm39) missense probably benign 0.05
R0550:Adcy10 UTSW 1 165,392,884 (GRCm39) missense probably benign 0.00
R0554:Adcy10 UTSW 1 165,340,699 (GRCm39) missense probably benign
R0597:Adcy10 UTSW 1 165,352,631 (GRCm39) critical splice donor site probably null
R0629:Adcy10 UTSW 1 165,370,674 (GRCm39) missense probably damaging 1.00
R1421:Adcy10 UTSW 1 165,391,516 (GRCm39) missense probably damaging 0.98
R1454:Adcy10 UTSW 1 165,342,949 (GRCm39) missense possibly damaging 0.66
R1524:Adcy10 UTSW 1 165,345,972 (GRCm39) missense probably damaging 1.00
R1534:Adcy10 UTSW 1 165,345,881 (GRCm39) missense probably damaging 0.98
R1594:Adcy10 UTSW 1 165,352,602 (GRCm39) missense probably benign 0.02
R1690:Adcy10 UTSW 1 165,347,494 (GRCm39) missense probably damaging 1.00
R1842:Adcy10 UTSW 1 165,330,812 (GRCm39) missense probably damaging 1.00
R1885:Adcy10 UTSW 1 165,398,377 (GRCm39) missense probably benign 0.02
R1929:Adcy10 UTSW 1 165,337,866 (GRCm39) missense probably damaging 1.00
R2005:Adcy10 UTSW 1 165,352,591 (GRCm39) missense probably benign 0.02
R2211:Adcy10 UTSW 1 165,345,781 (GRCm39) missense probably damaging 1.00
R2225:Adcy10 UTSW 1 165,345,829 (GRCm39) missense probably damaging 1.00
R2227:Adcy10 UTSW 1 165,345,829 (GRCm39) missense probably damaging 1.00
R2272:Adcy10 UTSW 1 165,337,866 (GRCm39) missense probably damaging 1.00
R2421:Adcy10 UTSW 1 165,386,166 (GRCm39) missense probably damaging 0.97
R3614:Adcy10 UTSW 1 165,403,296 (GRCm39) missense probably benign 0.38
R4538:Adcy10 UTSW 1 165,340,696 (GRCm39) missense probably benign 0.38
R4644:Adcy10 UTSW 1 165,378,930 (GRCm39) critical splice donor site probably null
R4649:Adcy10 UTSW 1 165,331,618 (GRCm39) missense probably damaging 1.00
R4832:Adcy10 UTSW 1 165,334,213 (GRCm39) missense probably damaging 1.00
R4853:Adcy10 UTSW 1 165,375,782 (GRCm39) missense probably benign
R4916:Adcy10 UTSW 1 165,345,815 (GRCm39) missense probably damaging 1.00
R4951:Adcy10 UTSW 1 165,391,532 (GRCm39) missense probably damaging 1.00
R4972:Adcy10 UTSW 1 165,384,431 (GRCm39) missense probably damaging 1.00
R5116:Adcy10 UTSW 1 165,347,069 (GRCm39) missense probably damaging 1.00
R5377:Adcy10 UTSW 1 165,347,464 (GRCm39) missense probably damaging 1.00
R5442:Adcy10 UTSW 1 165,340,709 (GRCm39) missense probably benign 0.43
R5692:Adcy10 UTSW 1 165,342,875 (GRCm39) missense probably benign 0.36
R5949:Adcy10 UTSW 1 165,367,386 (GRCm39) missense possibly damaging 0.79
R5998:Adcy10 UTSW 1 165,369,218 (GRCm39) missense probably benign 0.19
R6238:Adcy10 UTSW 1 165,403,297 (GRCm39) nonsense probably null
R6455:Adcy10 UTSW 1 165,345,943 (GRCm39) missense probably damaging 1.00
R6920:Adcy10 UTSW 1 165,403,227 (GRCm39) missense probably damaging 1.00
R6935:Adcy10 UTSW 1 165,334,204 (GRCm39) missense probably benign 0.21
R6957:Adcy10 UTSW 1 165,391,854 (GRCm39) missense probably damaging 1.00
R6970:Adcy10 UTSW 1 165,384,485 (GRCm39) missense probably benign 0.02
R7027:Adcy10 UTSW 1 165,345,815 (GRCm39) missense probably damaging 1.00
R7049:Adcy10 UTSW 1 165,367,443 (GRCm39) missense probably damaging 1.00
R7062:Adcy10 UTSW 1 165,366,091 (GRCm39) missense probably benign 0.27
R7130:Adcy10 UTSW 1 165,331,616 (GRCm39) missense probably damaging 1.00
R7144:Adcy10 UTSW 1 165,337,939 (GRCm39) missense probably benign 0.01
R7182:Adcy10 UTSW 1 165,371,039 (GRCm39) splice site probably null
R7228:Adcy10 UTSW 1 165,337,841 (GRCm39) missense probably damaging 1.00
R7384:Adcy10 UTSW 1 165,404,177 (GRCm39) missense unknown
R7561:Adcy10 UTSW 1 165,386,741 (GRCm39) missense possibly damaging 0.94
R7603:Adcy10 UTSW 1 165,391,806 (GRCm39) missense probably damaging 0.99
R7693:Adcy10 UTSW 1 165,398,340 (GRCm39) missense probably benign 0.01
R7812:Adcy10 UTSW 1 165,342,938 (GRCm39) missense probably damaging 1.00
R7905:Adcy10 UTSW 1 165,340,737 (GRCm39) critical splice donor site probably null
R8040:Adcy10 UTSW 1 165,379,593 (GRCm39) missense probably damaging 1.00
R8242:Adcy10 UTSW 1 165,374,118 (GRCm39) missense possibly damaging 0.82
R8278:Adcy10 UTSW 1 165,330,857 (GRCm39) missense probably damaging 1.00
R8282:Adcy10 UTSW 1 165,337,906 (GRCm39) missense probably benign 0.34
R8812:Adcy10 UTSW 1 165,378,867 (GRCm39) missense probably damaging 0.98
R9039:Adcy10 UTSW 1 165,345,914 (GRCm39) missense probably damaging 1.00
R9178:Adcy10 UTSW 1 165,403,218 (GRCm39) missense possibly damaging 0.79
R9244:Adcy10 UTSW 1 165,370,679 (GRCm39) missense probably benign 0.00
R9712:Adcy10 UTSW 1 165,340,681 (GRCm39) missense probably damaging 1.00
RF018:Adcy10 UTSW 1 165,379,678 (GRCm39) missense probably damaging 1.00
Z1177:Adcy10 UTSW 1 165,337,845 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- AAGGTCAACATTGCTGCCAG -3'
(R):5'- TCTCAAGCCTGGGCAAAGAATG -3'

Sequencing Primer
(F):5'- CTGCCAGGATGATGATGTACTACC -3'
(R):5'- CTGGGCAAAGAATGAGCTTCTCTC -3'
Posted On 2014-06-23