Incidental Mutation 'R0433:Adcy10'
ID 38892
Institutional Source Beutler Lab
Gene Symbol Adcy10
Ensembl Gene ENSMUSG00000026567
Gene Name adenylate cyclase 10
Synonyms sAC, Sacy, soluble adenylyl cyclase
MMRRC Submission 038635-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.376) question?
Stock # R0433 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 165485183-165576774 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 165552022 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 951 (L951Q)
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: L951Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: L951Q

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: L951Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: L951Q

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: L951Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: L951Q

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 noncoding transcript
Transcript: ENSMUST00000124037
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
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 94.3%
Validation Efficiency 99% (108/109)
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik T C 3: 68,870,303 (GRCm38) V199A possibly damaging Het
2410089E03Rik T C 15: 8,216,562 (GRCm38) S1473P probably benign Het
Abcb5 T C 12: 118,877,810 (GRCm38) M967V probably benign Het
Amer2 A T 14: 60,378,583 (GRCm38) S76C probably damaging Het
Atad1 T C 19: 32,698,477 (GRCm38) I182M probably benign Het
Bpi A G 2: 158,258,419 (GRCm38) D42G probably damaging Het
C7 G T 15: 4,988,916 (GRCm38) T815K probably damaging Het
Cacna1g T A 11: 94,459,207 (GRCm38) D604V probably benign Het
Camk1g A G 1: 193,354,058 (GRCm38) F165L probably damaging Het
Ccdc69 C T 11: 55,052,890 (GRCm38) probably null Het
Ccser2 A C 14: 36,918,529 (GRCm38) F37L probably damaging Het
Cfap43 A G 19: 47,825,771 (GRCm38) F208S probably benign Het
Cfap54 G A 10: 92,979,080 (GRCm38) probably benign Het
Cfap69 A C 5: 5,649,853 (GRCm38) D62E probably damaging Het
Cnksr2 A T X: 157,888,558 (GRCm38) M483K probably benign Het
Cnksr2 C A X: 157,888,557 (GRCm38) M483I probably benign Het
Cog8 T C 8: 107,056,478 (GRCm38) S60G possibly damaging Het
Col4a3 C T 1: 82,670,219 (GRCm38) P484S unknown Het
Col6a4 C T 9: 106,067,994 (GRCm38) G974R probably damaging Het
Dbnl T G 11: 5,796,825 (GRCm38) probably null Het
Dhcr7 T C 7: 143,840,463 (GRCm38) C114R possibly damaging Het
Dnah2 C A 11: 69,459,288 (GRCm38) D2340Y probably damaging Het
Dusp10 T A 1: 184,069,196 (GRCm38) Y387N probably damaging Het
Eipr1 C T 12: 28,859,331 (GRCm38) T199I possibly damaging Het
Emc2 T G 15: 43,497,124 (GRCm38) probably null Het
Enpp3 A G 10: 24,820,597 (GRCm38) S147P probably benign Het
Fam133b T A 5: 3,558,560 (GRCm38) probably benign Het
Fam205c A G 4: 42,874,013 (GRCm38) probably benign Het
Fat1 C A 8: 45,024,649 (GRCm38) T2244K possibly damaging Het
Fbn1 A G 2: 125,348,215 (GRCm38) S1453P possibly damaging Het
Fez2 A T 17: 78,418,047 (GRCm38) F13I probably damaging Het
Ggnbp2 T C 11: 84,836,420 (GRCm38) K530R probably damaging Het
Gm597 A T 1: 28,777,342 (GRCm38) Y536* probably null Het
Gpa33 T C 1: 166,163,761 (GRCm38) probably benign Het
Gpr142 T C 11: 114,805,997 (GRCm38) I123T probably damaging Het
Il21 T G 3: 37,232,535 (GRCm38) I11L possibly damaging Het
Klhl7 A G 5: 24,127,702 (GRCm38) E86G probably damaging Het
Klk10 G T 7: 43,781,565 (GRCm38) A11S possibly damaging Het
Knl1 A T 2: 119,104,061 (GRCm38) D2115V probably damaging Het
Lonp2 A G 8: 86,633,954 (GRCm38) D185G probably damaging Het
Lrrc47 T C 4: 154,018,365 (GRCm38) probably benign Het
Lrrcc1 A G 3: 14,559,374 (GRCm38) I698V probably damaging Het
Lzts2 T C 19: 45,021,676 (GRCm38) V83A possibly damaging Het
Melk C A 4: 44,340,614 (GRCm38) probably benign Het
Mical1 G A 10: 41,479,490 (GRCm38) V150I probably benign Het
Morn3 C A 5: 123,039,333 (GRCm38) M129I probably benign Het
Mroh2b T A 15: 4,941,634 (GRCm38) D1040E probably benign Het
Mroh5 T A 15: 73,790,808 (GRCm38) Q387L probably damaging Het
Mroh5 T C 15: 73,790,028 (GRCm38) N438S probably benign Het
Myh15 A G 16: 49,145,236 (GRCm38) D1168G probably damaging Het
Nek10 A G 14: 14,860,927 (GRCm38) E493G probably benign Het
Nipsnap3a A G 4: 53,000,316 (GRCm38) Y227C probably damaging Het
Nlrp9c T A 7: 26,385,819 (GRCm38) T112S probably benign Het
Nphp4 T C 4: 152,518,172 (GRCm38) V401A probably benign Het
Nr1h2 A G 7: 44,549,987 (GRCm38) *365Q probably null Het
Olfr1339 T C 4: 118,735,090 (GRCm38) V187A probably benign Het
Olfr474 T C 7: 107,955,262 (GRCm38) I207T probably damaging Het
Pacs2 T A 12: 113,056,844 (GRCm38) V279D possibly damaging Het
Pdcd2 C T 17: 15,526,384 (GRCm38) C171Y probably benign Het
Pde11a T A 2: 76,337,706 (GRCm38) D301V possibly damaging Het
Pfpl T G 19: 12,429,475 (GRCm38) N363K probably damaging Het
Phf14 T A 6: 11,933,743 (GRCm38) S201R probably damaging Het
Pip4k2c G A 10: 127,208,946 (GRCm38) P66S probably benign Het
Pou2f3 G T 9: 43,127,398 (GRCm38) H392N probably benign Het
Pou3f1 G T 4: 124,658,904 (GRCm38) G400C probably damaging Het
Ptprg T C 14: 12,220,620 (GRCm38) I1219T probably damaging Het
Rfx6 A G 10: 51,720,028 (GRCm38) D435G probably damaging Het
Rhpn2 T A 7: 35,385,474 (GRCm38) S598T probably benign Het
Sdccag8 C A 1: 176,844,821 (GRCm38) probably null Het
Sec16b C A 1: 157,534,709 (GRCm38) Y43* probably null Het
Sele T C 1: 164,049,244 (GRCm38) Y30H possibly damaging Het
Sgsm2 C T 11: 74,858,190 (GRCm38) probably null Het
Slc45a2 T C 15: 11,025,745 (GRCm38) Y394H probably benign Het
Slc4a10 T G 2: 62,289,983 (GRCm38) I788S probably benign Het
Slmap A T 14: 26,453,594 (GRCm38) L161* probably null Het
Slx4 A T 16: 3,986,018 (GRCm38) D977E probably benign Het
Spen A T 4: 141,483,758 (GRCm38) M608K unknown Het
St8sia4 G C 1: 95,591,704 (GRCm38) T353R probably damaging Het
Stab2 G T 10: 86,843,491 (GRCm38) probably benign Het
Stx12 C T 4: 132,858,430 (GRCm38) G213D probably damaging Het
Synj2 A T 17: 6,033,848 (GRCm38) N270Y probably damaging Het
Tdrd9 C T 12: 112,025,581 (GRCm38) R438* probably null Het
Tert T C 13: 73,627,081 (GRCm38) Y18H probably damaging Het
Tph1 A T 7: 46,653,821 (GRCm38) F244L probably damaging Het
Triobp T C 15: 78,968,201 (GRCm38) F852L possibly damaging Het
Trpv1 T C 11: 73,253,008 (GRCm38) probably benign Het
Uggt2 A T 14: 119,075,329 (GRCm38) probably null Het
Ulk4 A G 9: 121,044,819 (GRCm38) I1182T probably benign Het
Uqcc1 A G 2: 155,910,368 (GRCm38) Y98H probably damaging Het
Usp25 A G 16: 77,109,217 (GRCm38) I854V probably benign Het
Usp50 T C 2: 126,761,544 (GRCm38) S361G probably damaging Het
Uspl1 C A 5: 149,214,815 (GRCm38) Q743K probably damaging Het
Vmn2r3 A G 3: 64,275,633 (GRCm38) V215A possibly damaging Het
Vmn2r61 A T 7: 42,265,911 (GRCm38) H94L probably benign Het
Vps37c T C 19: 10,713,029 (GRCm38) V285A probably benign Het
Vwa8 T C 14: 79,062,676 (GRCm38) V983A probably damaging Het
Wdr78 T C 4: 103,103,253 (GRCm38) N67D probably benign Het
Zcchc9 C T 13: 91,805,962 (GRCm38) R58H probably benign Het
Zdbf2 T C 1: 63,306,143 (GRCm38) V1227A possibly damaging Het
Zfp292 T C 4: 34,839,959 (GRCm38) K64E probably damaging Het
Zfp948 A G 17: 21,587,502 (GRCm38) T319A probably benign Het
Zp3r T G 1: 130,577,133 (GRCm38) probably benign 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
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
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'- GTTCCTTCTAGCTTACGGCGAAGAG -3'
(R):5'- TGACACTGCTTGTATCCCAAACCC -3'

Sequencing Primer
(F):5'- CTTACGGCGAAGAGGAGGAG -3'
(R):5'- CTTGTATCCCAAACCCTGAGG -3'
Posted On 2013-05-23