Incidental Mutation 'R6957:Adcy10'
ID 541486
Institutional Source Beutler Lab
Gene Symbol Adcy10
Ensembl Gene ENSMUSG00000026567
Gene Name adenylate cyclase 10
Synonyms sAC, Sacy, soluble adenylyl cyclase
MMRRC Submission 045068-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.233) question?
Stock # R6957 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 165485183-165576774 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 165564285 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 1345 (L1345I)
Ref Sequence ENSEMBL: ENSMUSP00000107067 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027852] [ENSMUST00000111439] [ENSMUST00000111440] [ENSMUST00000148550] [ENSMUST00000155216]
AlphaFold Q8C0T9
Predicted Effect probably damaging
Transcript: ENSMUST00000027852
AA Change: L1345I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: L1345I

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: L1345I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: L1345I

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: L1345I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: L1345I

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 benign
Transcript: ENSMUST00000148550
SMART Domains Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310009B15Rik A G 1: 138,852,119 (GRCm38) S132P probably damaging Het
Abcb5 A G 12: 118,907,535 (GRCm38) F710L probably damaging Het
Acsm4 T G 7: 119,711,399 (GRCm38) V503G probably damaging Het
Adam26a T A 8: 43,568,903 (GRCm38) M517L probably benign Het
Adgrv1 T C 13: 81,567,490 (GRCm38) I860V probably benign Het
Alcam T C 16: 52,276,894 (GRCm38) D333G probably damaging Het
Amt C A 9: 108,299,833 (GRCm38) F213L possibly damaging Het
Ascc3 A G 10: 50,728,182 (GRCm38) T1333A probably damaging Het
Asxl3 C A 18: 22,522,091 (GRCm38) L1053I probably damaging Het
Atxn10 T C 15: 85,336,498 (GRCm38) S12P probably damaging Het
AU021092 T C 16: 5,212,153 (GRCm38) I333V probably benign Het
Birc6 A G 17: 74,579,491 (GRCm38) I577V probably benign Het
Cadm2 A T 16: 66,812,838 (GRCm38) F132I probably benign Het
Casp3 T A 8: 46,634,273 (GRCm38) V85D probably damaging Het
Ccdc168 C T 1: 44,057,207 (GRCm38) C1577Y probably benign Het
Ccdc85a A T 11: 28,392,944 (GRCm38) probably benign Het
Cd22 T C 7: 30,867,574 (GRCm38) R760G possibly damaging Het
Cela3a A T 4: 137,408,130 (GRCm38) W41R probably damaging Het
Cep164 A G 9: 45,772,280 (GRCm38) probably null Het
Cntnap5b A G 1: 100,274,472 (GRCm38) E348G probably benign Het
Ddx20 C A 3: 105,684,310 (GRCm38) K181N probably benign Het
Dnah14 G C 1: 181,785,175 (GRCm38) A3846P possibly damaging Het
Ern1 A C 11: 106,403,539 (GRCm38) I813S probably damaging Het
Fam181a G A 12: 103,316,514 (GRCm38) G226D probably damaging Het
Fam186a T A 15: 99,946,476 (GRCm38) D629V unknown Het
Gipr T A 7: 19,164,604 (GRCm38) T26S probably benign Het
Gm3159 A G 14: 4,398,530 (GRCm38) R74G possibly damaging Het
Greb1l G A 18: 10,558,786 (GRCm38) V1814I probably benign Het
Hacd1 A T 2: 14,044,853 (GRCm38) V98E probably damaging Het
Iars1 T G 13: 49,722,161 (GRCm38) F775V probably damaging Het
Il12rb2 G A 6: 67,292,652 (GRCm38) L726F possibly damaging Het
Itih4 T C 14: 30,892,603 (GRCm38) V474A probably damaging Het
Kmt2a A C 9: 44,820,022 (GRCm38) probably benign Het
Ktn1 T A 14: 47,667,353 (GRCm38) L196* probably null Het
Lipo4 A G 19: 33,499,367 (GRCm38) V327A probably benign Het
Lratd2 T C 15: 60,823,085 (GRCm38) T271A probably benign Het
Lrit1 G C 14: 37,060,095 (GRCm38) V242L probably damaging Het
Lrp4 C A 2: 91,487,042 (GRCm38) T837K probably damaging Het
Mad1l1 G T 5: 140,065,817 (GRCm38) F664L probably damaging Het
Mecr A G 4: 131,861,861 (GRCm38) T247A probably benign Het
Msi1 G A 5: 115,445,424 (GRCm38) A228T probably benign Het
Mup5 T A 4: 61,833,036 (GRCm38) N125I probably damaging Het
Mybl2 C T 2: 163,072,808 (GRCm38) S282F possibly damaging Het
Myom2 G A 8: 15,117,741 (GRCm38) A1109T probably null Het
Nalcn T C 14: 123,507,554 (GRCm38) D354G probably damaging Het
Nckap1l T C 15: 103,491,511 (GRCm38) V1040A possibly damaging Het
Nlrp12 T A 7: 3,222,486 (GRCm38) D1051V probably damaging Het
Nudt7 A G 8: 114,133,645 (GRCm38) K16R probably benign Het
Or4b1 G T 2: 90,149,150 (GRCm38) Y285* probably null Het
Or8g29-ps1 A G 9: 39,289,281 (GRCm38) V203A unknown Het
Paqr3 A T 5: 97,108,251 (GRCm38) I88K possibly damaging Het
Parp9 A G 16: 35,948,346 (GRCm38) M299V probably benign Het
Pde4dip A T 3: 97,824,333 (GRCm38) probably null Het
Pex13 T G 11: 23,655,628 (GRCm38) M201L probably benign Het
Pfas C A 11: 68,993,883 (GRCm38) V498L probably benign Het
Phka2 G A X: 160,533,048 (GRCm38) V230I probably damaging Het
Plec T A 15: 76,186,214 (GRCm38) D932V probably damaging Het
Qng1 C A 13: 58,381,961 (GRCm38) C279F probably damaging Het
Qsox2 C T 2: 26,217,642 (GRCm38) A445T probably benign Het
Rapgef1 C A 2: 29,733,698 (GRCm38) Q820K possibly damaging Het
Samd13 A G 3: 146,662,669 (GRCm38) probably null Het
Samm50 G T 15: 84,198,649 (GRCm38) D104Y probably damaging Het
Sbk3 A T 7: 4,967,523 (GRCm38) F282L probably benign Het
Sfmbt1 C T 14: 30,787,589 (GRCm38) H342Y probably benign Het
Sgo2b CCATCATCATCATCATCATCAT CCATCATCATCATCATCAT 8: 63,931,455 (GRCm38) probably benign Het
Slc12a2 T A 18: 57,910,272 (GRCm38) L596* probably null Het
Spata31h1 A T 10: 82,293,786 (GRCm38) I1130K probably benign Het
St8sia3 T C 18: 64,271,782 (GRCm38) S377P probably benign Het
Stmnd1 T G 13: 46,273,899 (GRCm38) S28A probably benign Het
Syne3 A T 12: 104,954,302 (GRCm38) L458Q probably damaging Het
Synm C T 7: 67,736,100 (GRCm38) V163I probably benign Het
Tbc1d23 A G 16: 57,208,323 (GRCm38) C161R probably damaging Het
Tnfrsf4 G A 4: 156,016,168 (GRCm38) V215I probably benign Het
Vars2 T G 17: 35,667,075 (GRCm38) K67Q probably benign Het
Vmn2r13 A T 5: 109,156,887 (GRCm38) Y559* probably null Het
Wdpcp T C 11: 21,721,154 (GRCm38) I465T possibly damaging Het
Zwilch A C 9: 64,162,562 (GRCm38) probably null Het
Other mutations in Adcy10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Adcy10 APN 1 165,551,914 (GRCm38) missense probably benign 0.45
IGL00731:Adcy10 APN 1 165,572,614 (GRCm38) missense probably benign
IGL01099:Adcy10 APN 1 165,539,842 (GRCm38) missense probably benign 0.21
IGL01464:Adcy10 APN 1 165,546,587 (GRCm38) missense probably damaging 1.00
IGL01729:Adcy10 APN 1 165,513,168 (GRCm38) critical splice donor site probably null
IGL02002:Adcy10 APN 1 165,521,843 (GRCm38) missense probably damaging 1.00
IGL02094:Adcy10 APN 1 165,570,620 (GRCm38) missense probably damaging 1.00
IGL02132:Adcy10 APN 1 165,572,543 (GRCm38) missense probably damaging 0.96
IGL02276:Adcy10 APN 1 165,559,128 (GRCm38) missense probably damaging 0.96
IGL02408:Adcy10 APN 1 165,538,380 (GRCm38) missense probably damaging 1.00
IGL02410:Adcy10 APN 1 165,510,408 (GRCm38) missense probably damaging 1.00
IGL02445:Adcy10 APN 1 165,570,744 (GRCm38) missense possibly damaging 0.85
IGL02470:Adcy10 APN 1 165,567,726 (GRCm38) missense probably damaging 1.00
IGL02551:Adcy10 APN 1 165,543,233 (GRCm38) missense probably damaging 1.00
IGL02606:Adcy10 APN 1 165,519,518 (GRCm38) missense possibly damaging 0.88
IGL02609:Adcy10 APN 1 165,538,475 (GRCm38) nonsense probably null
Bugged UTSW 1 165,564,237 (GRCm38) missense probably damaging 0.99
debye UTSW 1 165,551,361 (GRCm38) critical splice donor site probably null
malaysian UTSW 1 165,513,127 (GRCm38) missense probably benign 0.38
singaporean UTSW 1 165,518,312 (GRCm38) missense probably damaging 0.98
PIT4514001:Adcy10 UTSW 1 165,556,791 (GRCm38) missense probably benign 0.28
R0046:Adcy10 UTSW 1 165,539,834 (GRCm38) missense probably damaging 0.99
R0046:Adcy10 UTSW 1 165,539,834 (GRCm38) missense probably damaging 0.99
R0276:Adcy10 UTSW 1 165,572,591 (GRCm38) missense possibly damaging 0.88
R0324:Adcy10 UTSW 1 165,564,249 (GRCm38) missense probably benign 0.00
R0433:Adcy10 UTSW 1 165,552,022 (GRCm38) missense probably damaging 1.00
R0454:Adcy10 UTSW 1 165,570,728 (GRCm38) missense probably damaging 1.00
R0501:Adcy10 UTSW 1 165,510,390 (GRCm38) missense probably damaging 1.00
R0513:Adcy10 UTSW 1 165,519,519 (GRCm38) missense probably benign 0.04
R0533:Adcy10 UTSW 1 165,564,023 (GRCm38) missense probably benign 0.05
R0550:Adcy10 UTSW 1 165,565,315 (GRCm38) missense probably benign 0.00
R0554:Adcy10 UTSW 1 165,513,130 (GRCm38) missense probably benign
R0597:Adcy10 UTSW 1 165,525,062 (GRCm38) critical splice donor site probably null
R0629:Adcy10 UTSW 1 165,543,105 (GRCm38) missense probably damaging 1.00
R1421:Adcy10 UTSW 1 165,563,947 (GRCm38) missense probably damaging 0.98
R1454:Adcy10 UTSW 1 165,515,380 (GRCm38) missense possibly damaging 0.66
R1524:Adcy10 UTSW 1 165,518,403 (GRCm38) missense probably damaging 1.00
R1534:Adcy10 UTSW 1 165,518,312 (GRCm38) missense probably damaging 0.98
R1594:Adcy10 UTSW 1 165,525,033 (GRCm38) missense probably benign 0.02
R1690:Adcy10 UTSW 1 165,519,925 (GRCm38) missense probably damaging 1.00
R1842:Adcy10 UTSW 1 165,503,243 (GRCm38) missense probably damaging 1.00
R1859:Adcy10 UTSW 1 165,521,961 (GRCm38) missense probably damaging 1.00
R1885:Adcy10 UTSW 1 165,570,808 (GRCm38) missense probably benign 0.02
R1929:Adcy10 UTSW 1 165,510,297 (GRCm38) missense probably damaging 1.00
R2005:Adcy10 UTSW 1 165,525,022 (GRCm38) missense probably benign 0.02
R2211:Adcy10 UTSW 1 165,518,212 (GRCm38) missense probably damaging 1.00
R2225:Adcy10 UTSW 1 165,518,260 (GRCm38) missense probably damaging 1.00
R2227:Adcy10 UTSW 1 165,518,260 (GRCm38) missense probably damaging 1.00
R2272:Adcy10 UTSW 1 165,510,297 (GRCm38) missense probably damaging 1.00
R2421:Adcy10 UTSW 1 165,558,597 (GRCm38) missense probably damaging 0.97
R3614:Adcy10 UTSW 1 165,575,727 (GRCm38) missense probably benign 0.38
R4538:Adcy10 UTSW 1 165,513,127 (GRCm38) missense probably benign 0.38
R4644:Adcy10 UTSW 1 165,551,361 (GRCm38) critical splice donor site probably null
R4649:Adcy10 UTSW 1 165,504,049 (GRCm38) missense probably damaging 1.00
R4832:Adcy10 UTSW 1 165,506,644 (GRCm38) missense probably damaging 1.00
R4853:Adcy10 UTSW 1 165,548,213 (GRCm38) missense probably benign
R4916:Adcy10 UTSW 1 165,518,246 (GRCm38) missense probably damaging 1.00
R4951:Adcy10 UTSW 1 165,563,963 (GRCm38) missense probably damaging 1.00
R4972:Adcy10 UTSW 1 165,556,862 (GRCm38) missense probably damaging 1.00
R5116:Adcy10 UTSW 1 165,519,500 (GRCm38) missense probably damaging 1.00
R5377:Adcy10 UTSW 1 165,519,895 (GRCm38) missense probably damaging 1.00
R5442:Adcy10 UTSW 1 165,513,140 (GRCm38) missense probably benign 0.43
R5692:Adcy10 UTSW 1 165,515,306 (GRCm38) missense probably benign 0.36
R5949:Adcy10 UTSW 1 165,539,817 (GRCm38) missense possibly damaging 0.79
R5998:Adcy10 UTSW 1 165,541,649 (GRCm38) missense probably benign 0.19
R6238:Adcy10 UTSW 1 165,575,728 (GRCm38) nonsense probably null
R6455:Adcy10 UTSW 1 165,518,374 (GRCm38) missense probably damaging 1.00
R6920:Adcy10 UTSW 1 165,575,658 (GRCm38) missense probably damaging 1.00
R6935:Adcy10 UTSW 1 165,506,635 (GRCm38) missense probably benign 0.21
R6970:Adcy10 UTSW 1 165,556,916 (GRCm38) missense probably benign 0.02
R7027:Adcy10 UTSW 1 165,518,246 (GRCm38) missense probably damaging 1.00
R7049:Adcy10 UTSW 1 165,539,874 (GRCm38) missense probably damaging 1.00
R7062:Adcy10 UTSW 1 165,538,522 (GRCm38) missense probably benign 0.27
R7130:Adcy10 UTSW 1 165,504,047 (GRCm38) missense probably damaging 1.00
R7144:Adcy10 UTSW 1 165,510,370 (GRCm38) missense probably benign 0.01
R7182:Adcy10 UTSW 1 165,543,470 (GRCm38) splice site probably null
R7228:Adcy10 UTSW 1 165,510,272 (GRCm38) missense probably damaging 1.00
R7384:Adcy10 UTSW 1 165,576,608 (GRCm38) missense unknown
R7561:Adcy10 UTSW 1 165,559,172 (GRCm38) missense possibly damaging 0.94
R7603:Adcy10 UTSW 1 165,564,237 (GRCm38) missense probably damaging 0.99
R7693:Adcy10 UTSW 1 165,570,771 (GRCm38) missense probably benign 0.01
R7812:Adcy10 UTSW 1 165,515,369 (GRCm38) missense probably damaging 1.00
R7905:Adcy10 UTSW 1 165,513,168 (GRCm38) critical splice donor site probably null
R8040:Adcy10 UTSW 1 165,552,024 (GRCm38) missense probably damaging 1.00
R8242:Adcy10 UTSW 1 165,546,549 (GRCm38) missense possibly damaging 0.82
R8278:Adcy10 UTSW 1 165,503,288 (GRCm38) missense probably damaging 1.00
R8282:Adcy10 UTSW 1 165,510,337 (GRCm38) missense probably benign 0.34
R8812:Adcy10 UTSW 1 165,551,298 (GRCm38) missense probably damaging 0.98
R9039:Adcy10 UTSW 1 165,518,345 (GRCm38) missense probably damaging 1.00
R9178:Adcy10 UTSW 1 165,575,649 (GRCm38) missense possibly damaging 0.79
R9244:Adcy10 UTSW 1 165,543,110 (GRCm38) missense probably benign 0.00
R9712:Adcy10 UTSW 1 165,513,112 (GRCm38) missense probably damaging 1.00
RF018:Adcy10 UTSW 1 165,552,109 (GRCm38) missense probably damaging 1.00
Z1177:Adcy10 UTSW 1 165,510,276 (GRCm38) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CCATTGAGTTAGGTAAGGGCC -3'
(R):5'- AGAGGAAAGCTTTCTGGTTGAG -3'

Sequencing Primer
(F):5'- TTAGGTAAGGGCCGGCAAG -3'
(R):5'- TAATTAATGCTGGGAGCCCC -3'
Posted On 2018-11-28