Incidental Mutation 'R7812:Adcy10'
ID 601199
Institutional Source Beutler Lab
Gene Symbol Adcy10
Ensembl Gene ENSMUSG00000026567
Gene Name adenylate cyclase 10
Synonyms sAC, Sacy, soluble adenylyl cyclase
MMRRC Submission 045867-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.376) question?
Stock # R7812 (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 G at 165515369 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 268 (Y268C)
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: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: Y268C

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: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: Y268C

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: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: Y268C

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: Y268C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
AA Change: Y268C

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: 99.6%
  • 20x: 98.7%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik C A 9: 57,257,858 (GRCm38) C411F probably damaging Het
Abhd17c G T 7: 84,151,416 (GRCm38) Y143* probably null Het
Acad11 T G 9: 104,095,548 (GRCm38) L480R probably benign Het
Acad8 A T 9: 26,979,180 (GRCm38) N277K probably damaging Het
Adm2 A T 15: 89,324,164 (GRCm38) R102S possibly damaging Het
Ambra1 A T 2: 91,766,566 (GRCm38) M1L probably benign Het
Angpt2 T C 8: 18,692,145 (GRCm38) N465S probably benign Het
Arhgap17 T C 7: 123,280,067 (GRCm38) I820M unknown Het
Atf7ip G A 6: 136,603,417 (GRCm38) R1113Q probably damaging Het
Atp5f1 A G 3: 105,943,841 (GRCm38) V180A probably benign Het
Auts2 C T 5: 131,472,446 (GRCm38) R43H Het
Cacna1g A T 11: 94,444,054 (GRCm38) I809N probably benign Het
Cand1 A T 10: 119,217,959 (GRCm38) M158K probably benign Het
Cars T A 7: 143,570,047 (GRCm38) I500F probably damaging Het
Ccdc18 T A 5: 108,180,833 (GRCm38) M706K probably benign Het
Ccdc180 G A 4: 45,906,952 (GRCm38) probably null Het
Ces1f A G 8: 93,258,310 (GRCm38) V463A probably benign Het
Cndp1 G T 18: 84,637,869 (GRCm38) D58E probably benign Het
Csnk2b A T 17: 35,120,455 (GRCm38) F21Y probably benign Het
Dgkg C G 16: 22,566,415 (GRCm38) R447T probably damaging Het
Dnajc12 A G 10: 63,407,126 (GRCm38) D141G probably benign Het
Edar A G 10: 58,630,104 (GRCm38) V4A probably benign Het
Elf1 A G 14: 79,565,558 (GRCm38) D117G probably damaging Het
Fam124b T C 1: 80,213,634 (GRCm38) T11A probably damaging Het
Fgl2 C A 5: 21,372,898 (GRCm38) T61K probably benign Het
Furin T C 7: 80,395,974 (GRCm38) N218S possibly damaging Het
Gcn1l1 T A 5: 115,593,692 (GRCm38) H955Q possibly damaging Het
Gucy2e A G 11: 69,226,243 (GRCm38) I784T probably damaging Het
Ice1 T A 13: 70,603,005 (GRCm38) Q1654L possibly damaging Het
Klhl28 T C 12: 64,943,589 (GRCm38) N526S possibly damaging Het
Ldlrad4 C A 18: 68,106,671 (GRCm38) P54Q probably benign Het
Lsm14a A G 7: 34,388,876 (GRCm38) probably benign Het
Mdga1 A G 17: 29,843,141 (GRCm38) V438A probably benign Het
Mrto4 A G 4: 139,347,967 (GRCm38) V175A possibly damaging Het
Nav2 T G 7: 49,597,173 (GRCm38) S2149A probably benign Het
Nr4a2 A G 2: 57,112,418 (GRCm38) Y8H probably damaging Het
Olfr1495 T C 19: 13,769,016 (GRCm38) F225L probably benign Het
Olfr340 T A 2: 36,453,278 (GRCm38) I231N probably benign Het
Olfr347 A T 2: 36,734,725 (GRCm38) M135L probably benign Het
Olfr677 T C 7: 105,056,687 (GRCm38) L147P possibly damaging Het
Oxr1 T A 15: 41,751,742 (GRCm38) M1K probably null Het
Pbx3 T C 2: 34,224,466 (GRCm38) Y152C probably damaging Het
Pcdhb13 T A 18: 37,442,592 (GRCm38) C8S probably benign Het
Polr1c G A 17: 46,246,127 (GRCm38) R77W probably damaging Het
Psg25 A T 7: 18,521,168 (GRCm38) N474K possibly damaging Het
Ralgapa1 T A 12: 55,719,628 (GRCm38) M838L possibly damaging Het
Ranbp2 A G 10: 58,467,402 (GRCm38) T799A probably benign Het
Sbf2 C T 7: 110,449,963 (GRCm38) V265I possibly damaging Het
Scarf2 G A 16: 17,803,828 (GRCm38) G381R probably damaging Het
Shprh A G 10: 11,151,991 (GRCm38) Q114R probably benign Het
Sipa1l2 A C 8: 125,491,595 (GRCm38) D334E probably damaging Het
Slc26a4 T A 12: 31,544,450 (GRCm38) I300F probably damaging Het
Sox7 C T 14: 63,948,232 (GRCm38) T239I probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm38) probably benign Het
St6galnac1 G T 11: 116,769,101 (GRCm38) H129N probably benign Het
Stxbp4 A G 11: 90,594,828 (GRCm38) L231P probably damaging Het
Syngap1 A C 17: 26,941,504 (GRCm38) Y18S probably benign Het
Tenm3 T C 8: 48,276,300 (GRCm38) Y1557C probably benign Het
Trim44 G T 2: 102,400,144 (GRCm38) P181T possibly damaging Het
Trp53i13 A T 11: 77,508,840 (GRCm38) V221D possibly damaging Het
Trpm7 A G 2: 126,799,316 (GRCm38) S1554P probably damaging Het
Vcl A G 14: 20,995,090 (GRCm38) N288D probably benign Het
Vmn2r59 A T 7: 42,045,772 (GRCm38) Y405* probably null Het
Vps35 T C 8: 85,284,189 (GRCm38) D175G probably benign Het
Wdr90 A T 17: 25,852,558 (GRCm38) L949Q probably damaging Het
Wwp1 G A 4: 19,639,991 (GRCm38) T517I probably damaging Het
Zfp462 T G 4: 55,008,509 (GRCm38) F158L probably benign Het
Zfp703 T A 8: 26,979,878 (GRCm38) H523Q probably damaging 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
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
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'- GAAGTCTTTCTGTCCATCGATGTCC -3'
(R):5'- AGCCTCAGTTAAAGATTCGTCAAG -3'

Sequencing Primer
(F):5'- CATCGATGTCCTGGGGTCTC -3'
(R):5'- TGGAGCAACCAGAGTCTGTATTC -3'
Posted On 2019-11-26