Incidental Mutation 'R7228:Adcy10'
ID 562262
Institutional Source Beutler Lab
Gene Symbol Adcy10
Ensembl Gene ENSMUSG00000026567
Gene Name adenylate cyclase 10
Synonyms sAC, Sacy, soluble adenylyl cyclase
MMRRC Submission 045300-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.376) question?
Stock # R7228 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 165485183-165576774 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 165510272 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 152 (I152L)
Ref Sequence ENSEMBL: ENSMUSP00000027852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027852] [ENSMUST00000111439] [ENSMUST00000111440] [ENSMUST00000148550] [ENSMUST00000155216]
AlphaFold Q8C0T9
Predicted Effect probably damaging
Transcript: ENSMUST00000027852
AA Change: I152L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: I152L

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: I152L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: I152L

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: I152L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: I152L

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
AA Change: I152L

PolyPhen 2 Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
AA Change: I152L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,297,653 (GRCm38) F2467I probably benign Het
Acod1 A G 14: 103,049,329 (GRCm38) T23A probably benign Het
Adam2 T A 14: 66,053,912 (GRCm38) K306* probably null Het
Amigo1 T C 3: 108,187,230 (GRCm38) L15P probably benign Het
Aqp2 A G 15: 99,582,124 (GRCm38) N156S probably benign Het
AU041133 A G 10: 82,151,271 (GRCm38) K253E possibly damaging Het
Cacna1s A G 1: 136,071,059 (GRCm38) T231A possibly damaging Het
Carf A T 1: 60,109,394 (GRCm38) N83I probably damaging Het
Ccdc121rt1 T C 1: 181,510,967 (GRCm38) K140R probably benign Het
Cdc42bpb C T 12: 111,305,093 (GRCm38) V1111M possibly damaging Het
Cep78 A G 19: 15,969,197 (GRCm38) S424P probably benign Het
Cfap74 G A 4: 155,465,050 (GRCm38) V123M unknown Het
Crot T A 5: 8,976,051 (GRCm38) N312I probably damaging Het
Cyp2c69 C A 19: 39,881,166 (GRCm38) M136I possibly damaging Het
Cyp4f39 A G 17: 32,491,829 (GRCm38) D454G probably damaging Het
Dnaja4 A T 9: 54,714,285 (GRCm38) H298L possibly damaging Het
Eif2ak4 C T 2: 118,457,157 (GRCm38) T1081M probably damaging Het
Eif3j2 T C 18: 43,477,509 (GRCm38) K80E probably damaging Het
Elp4 T A 2: 105,792,302 (GRCm38) I351F probably damaging Het
Fbxw26 C G 9: 109,724,944 (GRCm38) G209A possibly damaging Het
Fsip2 T A 2: 82,992,307 (GRCm38) V6128D possibly damaging Het
Gli3 A G 13: 15,724,502 (GRCm38) T825A probably benign Het
Gm2042 A G 12: 87,957,949 (GRCm38) E60G probably benign Het
Gm26566 G T 4: 88,722,305 (GRCm38) R111L unknown Het
Gm3138 C A 14: 4,252,444 (GRCm38) H147Q probably damaging Het
Gucy1b1 T A 3: 82,033,274 (GRCm38) N615I unknown Het
Ighv14-1 A T 12: 113,932,361 (GRCm38) F8I not run Het
Kcnh8 C T 17: 52,956,716 (GRCm38) T747I probably benign Het
Kctd1 T A 18: 15,062,412 (GRCm38) S385C possibly damaging Het
Lmo7 T A 14: 101,896,535 (GRCm38) M672K probably damaging Het
Lrrc69 T A 4: 14,775,027 (GRCm38) K80N probably damaging Het
Map2k5 C T 9: 63,358,022 (GRCm38) D75N probably damaging Het
Matr3 T C 18: 35,562,484 (GRCm38) V4A unknown Het
Megf10 T C 18: 57,189,589 (GRCm38) C69R probably damaging Het
Mettl1 A G 10: 127,045,283 (GRCm38) E221G probably benign Het
Mkrn3 C A 7: 62,419,667 (GRCm38) R125S probably benign Het
Mlh3 A T 12: 85,235,656 (GRCm38) L1401Q probably benign Het
Nacad T C 11: 6,598,412 (GRCm38) I1412V probably benign Het
Nkain4 A T 2: 180,954,569 (GRCm38) probably null Het
Notch2 T A 3: 98,137,317 (GRCm38) C1518* probably null Het
Npw A G 17: 24,658,091 (GRCm38) V112A probably benign Het
Or10a5 A T 7: 107,037,100 (GRCm38) H315L probably benign Het
Or2v1 T A 11: 49,134,879 (GRCm38) M229K possibly damaging Het
Pdzd2 T C 15: 12,372,973 (GRCm38) T2359A probably benign Het
Pdzd2 T A 15: 12,458,145 (GRCm38) K37* probably null Het
Phkb T G 8: 85,843,007 (GRCm38) probably benign Het
Pou2af2 T C 9: 51,291,656 (GRCm38) D66G probably damaging Het
Prrc2b C A 2: 32,214,306 (GRCm38) Y1265* probably null Het
Rab31 T A 17: 65,717,553 (GRCm38) M44L probably benign Het
Rap1gds1 C T 3: 138,957,467 (GRCm38) G373R probably damaging Het
Rapgef2 T C 3: 79,069,218 (GRCm38) D1279G probably benign Het
Rbm46 T C 3: 82,842,533 (GRCm38) D468G probably benign Het
Ryr3 T C 2: 112,861,852 (GRCm38) E1059G probably damaging Het
Sez6l2 T C 7: 126,953,725 (GRCm38) L221P probably damaging Het
Slit3 T A 11: 35,599,418 (GRCm38) V361E probably damaging Het
Soat1 G A 1: 156,434,238 (GRCm38) S400F probably damaging Het
Spp1 T C 5: 104,440,445 (GRCm38) S238P probably damaging Het
Tdpoz8 T A 3: 93,073,686 (GRCm38) C4S possibly damaging Het
Tfap2c T C 2: 172,551,572 (GRCm38) S136P probably benign Het
Tgfbr2 T C 9: 116,109,943 (GRCm38) E297G probably damaging Het
Trim2 T C 3: 84,192,181 (GRCm38) D228G probably benign Het
Wdr82 C A 9: 106,176,672 (GRCm38) A74E probably benign Het
Zfp451 T C 1: 33,803,394 (GRCm38) T136A unknown 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
R6957:Adcy10 UTSW 1 165,564,285 (GRCm38) missense probably damaging 1.00
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
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'- AAAGATGGAGCCTCTGGGAC -3'
(R):5'- ACAGTGCACTCTCACCTTAACTG -3'

Sequencing Primer
(F):5'- TCTGGGACGGCTGGGAC -3'
(R):5'- AACTGCTCTCTGATCTGGAATC -3'
Posted On 2019-06-26