Incidental Mutation 'IGL01610:Adcy9'
ID 91992
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcy9
Ensembl Gene ENSMUSG00000005580
Gene Name adenylate cyclase 9
Synonyms ACtp10, D16Wsu65e
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # IGL01610
Quality Score
Status
Chromosome 16
Chromosomal Location 4105393-4238362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4235978 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 478 (Q478K)
Ref Sequence ENSEMBL: ENSMUSP00000113498 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005719] [ENSMUST00000117801] [ENSMUST00000120080]
AlphaFold P51830
Predicted Effect probably damaging
Transcript: ENSMUST00000005719
AA Change: Q478K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: Q478K

DomainStartEndE-ValueType
low complexity region 6 13 N/A INTRINSIC
low complexity region 49 75 N/A INTRINSIC
transmembrane domain 118 137 N/A INTRINSIC
transmembrane domain 142 164 N/A INTRINSIC
transmembrane domain 177 196 N/A INTRINSIC
transmembrane domain 216 235 N/A INTRINSIC
transmembrane domain 242 261 N/A INTRINSIC
transmembrane domain 281 300 N/A INTRINSIC
CYCc 325 547 1.69e-63 SMART
transmembrane domain 791 813 N/A INTRINSIC
transmembrane domain 823 845 N/A INTRINSIC
transmembrane domain 858 880 N/A INTRINSIC
transmembrane domain 890 912 N/A INTRINSIC
transmembrane domain 977 996 N/A INTRINSIC
CYCc 1023 1227 1.26e-39 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000117801
AA Change: Q478K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: Q478K

DomainStartEndE-ValueType
low complexity region 6 13 N/A INTRINSIC
low complexity region 49 75 N/A INTRINSIC
transmembrane domain 118 137 N/A INTRINSIC
transmembrane domain 142 164 N/A INTRINSIC
transmembrane domain 177 196 N/A INTRINSIC
transmembrane domain 216 235 N/A INTRINSIC
transmembrane domain 242 261 N/A INTRINSIC
transmembrane domain 281 300 N/A INTRINSIC
CYCc 325 547 1.69e-63 SMART
transmembrane domain 791 813 N/A INTRINSIC
transmembrane domain 823 845 N/A INTRINSIC
transmembrane domain 858 880 N/A INTRINSIC
transmembrane domain 890 912 N/A INTRINSIC
transmembrane domain 977 996 N/A INTRINSIC
CYCc 1023 1227 1.26e-39 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000120080
AA Change: Q241K

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: Q241K

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
transmembrane domain 44 63 N/A INTRINSIC
CYCc 88 310 1.69e-63 SMART
transmembrane domain 554 576 N/A INTRINSIC
transmembrane domain 586 608 N/A INTRINSIC
transmembrane domain 621 643 N/A INTRINSIC
transmembrane domain 653 675 N/A INTRINSIC
transmembrane domain 740 759 N/A INTRINSIC
CYCc 786 990 1.26e-39 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene show an increased IgG1 response to ovalbumin challenge. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018A14Rik T C 18: 46,332,633 (GRCm39) probably benign Het
4921524J17Rik T C 8: 86,138,871 (GRCm39) I73V probably benign Het
4930562C15Rik T A 16: 4,669,429 (GRCm39) probably benign Het
Abca15 T A 7: 119,939,867 (GRCm39) V323D probably damaging Het
Acot10 T C 15: 20,665,781 (GRCm39) Y320C probably damaging Het
Acp6 T A 3: 97,083,036 (GRCm39) V349D possibly damaging Het
Akap13 A G 7: 75,369,928 (GRCm39) I1843V possibly damaging Het
Akap13 A T 7: 75,397,353 (GRCm39) I2528F probably damaging Het
Akap9 G A 5: 4,082,839 (GRCm39) A1988T possibly damaging Het
Alox5 C T 6: 116,390,508 (GRCm39) V490M probably damaging Het
Aspm C T 1: 139,417,408 (GRCm39) R1537* probably null Het
Bmf G A 2: 118,379,639 (GRCm39) P46S probably benign Het
Brf1 T A 12: 112,951,703 (GRCm39) H92L probably benign Het
Chchd1 A G 14: 20,753,245 (GRCm39) N35S probably benign Het
Cntnap3 C T 13: 64,905,115 (GRCm39) G889S probably damaging Het
Col6a4 T C 9: 105,924,906 (GRCm39) probably benign Het
Crispld1 A G 1: 17,816,949 (GRCm39) probably null Het
Ddx27 T C 2: 166,863,964 (GRCm39) probably benign Het
Dennd1b A G 1: 139,097,504 (GRCm39) probably benign Het
Dennd4a T C 9: 64,814,166 (GRCm39) V1461A probably damaging Het
Drc7 C T 8: 95,804,430 (GRCm39) R843W probably damaging Het
Dync2li1 A G 17: 84,935,742 (GRCm39) E13G probably damaging Het
Egf A G 3: 129,499,909 (GRCm39) probably benign Het
Hpse2 T C 19: 43,373,228 (GRCm39) S134G probably benign Het
Hydin A G 8: 111,284,345 (GRCm39) T3206A probably benign Het
Ier5l T A 2: 30,363,966 (GRCm39) S20C probably damaging Het
Il1r1 A G 1: 40,341,560 (GRCm39) E324G probably benign Het
Kdm4b C T 17: 56,660,522 (GRCm39) probably benign Het
Lztfl1 T A 9: 123,529,156 (GRCm39) E298D probably benign Het
Myo1b A T 1: 51,815,405 (GRCm39) M647K probably damaging Het
Or13a25 C T 7: 140,247,584 (GRCm39) A128V probably damaging Het
Or52z14 A T 7: 103,253,274 (GRCm39) T138S probably benign Het
Or5j1 G T 2: 86,878,632 (GRCm39) probably benign Het
Parvb A T 15: 84,187,666 (GRCm39) K258M probably damaging Het
Pcdhb11 T G 18: 37,556,412 (GRCm39) S581A probably benign Het
Pcnx2 C A 8: 126,566,372 (GRCm39) A1024S possibly damaging Het
Pde4a T C 9: 21,122,646 (GRCm39) probably benign Het
Pgr A T 9: 8,903,692 (GRCm39) H571L possibly damaging Het
Phf20 G T 2: 156,144,809 (GRCm39) E806* probably null Het
Pilra T A 5: 137,833,803 (GRCm39) I85F probably damaging Het
Pla2g2f C T 4: 138,480,622 (GRCm39) V125M probably damaging Het
Rb1cc1 A G 1: 6,318,705 (GRCm39) N708S probably benign Het
Resf1 C T 6: 149,230,449 (GRCm39) T1165M probably benign Het
Rnase4 A T 14: 51,342,378 (GRCm39) Y34F probably damaging Het
Ropn1 A T 16: 34,487,141 (GRCm39) I26F probably damaging Het
Rpl9-ps6 T A 19: 32,443,699 (GRCm39) T85S probably benign Het
Scaf8 C T 17: 3,246,124 (GRCm39) P738S probably damaging Het
Sec31a A T 5: 100,550,217 (GRCm39) probably benign Het
Sel1l C T 12: 91,784,064 (GRCm39) V459I probably damaging Het
Senp7 A T 16: 55,996,186 (GRCm39) D755V possibly damaging Het
Serpinb9d A T 13: 33,381,985 (GRCm39) K151N probably benign Het
Slc8a3 A G 12: 81,362,576 (GRCm39) F81S probably damaging Het
Spire2 T A 8: 124,083,502 (GRCm39) L162Q probably damaging Het
Syt17 A G 7: 118,033,216 (GRCm39) I264T possibly damaging Het
Tbl3 A T 17: 24,923,018 (GRCm39) V379D probably damaging Het
Tenm3 A T 8: 48,707,512 (GRCm39) L1762Q probably damaging Het
Trerf1 A T 17: 47,630,501 (GRCm39) noncoding transcript Het
Ttc13 T C 8: 125,403,083 (GRCm39) D552G probably damaging Het
Tuba3a G T 6: 125,255,529 (GRCm39) T382K possibly damaging Het
Vmn1r210 A T 13: 23,011,977 (GRCm39) V103E probably damaging Het
Vmn1r80 A G 7: 11,927,307 (GRCm39) H139R possibly damaging Het
Xpo7 A T 14: 70,940,670 (GRCm39) F141Y probably damaging Het
Zfp143 T A 7: 109,673,333 (GRCm39) Y143* probably null Het
Zfp207 T A 11: 80,276,796 (GRCm39) C26S probably damaging Het
Other mutations in Adcy9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Adcy9 APN 16 4,122,446 (GRCm39) missense probably benign
IGL00326:Adcy9 APN 16 4,112,560 (GRCm39) missense probably benign
IGL00792:Adcy9 APN 16 4,106,403 (GRCm39) missense probably damaging 1.00
IGL02376:Adcy9 APN 16 4,236,544 (GRCm39) missense probably benign 0.01
IGL02424:Adcy9 APN 16 4,106,461 (GRCm39) missense probably damaging 1.00
IGL03097:Adcy9 UTSW 16 4,235,930 (GRCm39) missense possibly damaging 0.94
PIT4243001:Adcy9 UTSW 16 4,236,271 (GRCm39) missense probably damaging 1.00
R0043:Adcy9 UTSW 16 4,106,879 (GRCm39) missense probably benign 0.12
R0085:Adcy9 UTSW 16 4,106,088 (GRCm39) missense probably benign
R0105:Adcy9 UTSW 16 4,106,252 (GRCm39) missense probably damaging 1.00
R0105:Adcy9 UTSW 16 4,106,252 (GRCm39) missense probably damaging 1.00
R0371:Adcy9 UTSW 16 4,105,911 (GRCm39) missense probably benign 0.06
R0613:Adcy9 UTSW 16 4,237,403 (GRCm39) missense probably damaging 1.00
R0689:Adcy9 UTSW 16 4,130,668 (GRCm39) splice site probably benign
R0744:Adcy9 UTSW 16 4,237,135 (GRCm39) missense possibly damaging 0.69
R0836:Adcy9 UTSW 16 4,237,135 (GRCm39) missense possibly damaging 0.69
R1223:Adcy9 UTSW 16 4,116,612 (GRCm39) missense probably damaging 1.00
R1251:Adcy9 UTSW 16 4,129,395 (GRCm39) missense probably damaging 0.99
R1689:Adcy9 UTSW 16 4,115,426 (GRCm39) splice site probably null
R1922:Adcy9 UTSW 16 4,129,521 (GRCm39) missense probably damaging 1.00
R1955:Adcy9 UTSW 16 4,236,523 (GRCm39) missense possibly damaging 0.63
R1989:Adcy9 UTSW 16 4,116,591 (GRCm39) missense probably damaging 1.00
R1998:Adcy9 UTSW 16 4,115,276 (GRCm39) missense probably benign 0.00
R2321:Adcy9 UTSW 16 4,106,132 (GRCm39) missense probably damaging 1.00
R3160:Adcy9 UTSW 16 4,129,452 (GRCm39) missense probably damaging 1.00
R3161:Adcy9 UTSW 16 4,129,452 (GRCm39) missense probably damaging 1.00
R3162:Adcy9 UTSW 16 4,129,452 (GRCm39) missense probably damaging 1.00
R3162:Adcy9 UTSW 16 4,129,452 (GRCm39) missense probably damaging 1.00
R4065:Adcy9 UTSW 16 4,106,298 (GRCm39) missense probably damaging 1.00
R4909:Adcy9 UTSW 16 4,116,618 (GRCm39) missense probably benign 0.03
R5078:Adcy9 UTSW 16 4,141,771 (GRCm39) missense probably benign 0.00
R5870:Adcy9 UTSW 16 4,236,232 (GRCm39) missense probably damaging 1.00
R5968:Adcy9 UTSW 16 4,116,606 (GRCm39) missense probably damaging 1.00
R5975:Adcy9 UTSW 16 4,129,431 (GRCm39) missense probably damaging 0.98
R6014:Adcy9 UTSW 16 4,236,683 (GRCm39) missense probably damaging 1.00
R6035:Adcy9 UTSW 16 4,122,377 (GRCm39) missense probably benign
R6035:Adcy9 UTSW 16 4,122,377 (GRCm39) missense probably benign
R6081:Adcy9 UTSW 16 4,112,545 (GRCm39) missense probably benign
R6192:Adcy9 UTSW 16 4,105,818 (GRCm39) missense probably benign
R6604:Adcy9 UTSW 16 4,122,271 (GRCm39) missense probably damaging 0.98
R6739:Adcy9 UTSW 16 4,236,658 (GRCm39) missense probably benign
R6829:Adcy9 UTSW 16 4,125,018 (GRCm39) critical splice donor site probably null
R6986:Adcy9 UTSW 16 4,129,441 (GRCm39) missense probably damaging 0.99
R7491:Adcy9 UTSW 16 4,236,673 (GRCm39) missense possibly damaging 0.51
R7561:Adcy9 UTSW 16 4,236,028 (GRCm39) missense probably damaging 1.00
R7614:Adcy9 UTSW 16 4,236,088 (GRCm39) missense probably damaging 1.00
R7803:Adcy9 UTSW 16 4,122,244 (GRCm39) missense probably benign 0.11
R7993:Adcy9 UTSW 16 4,235,866 (GRCm39) missense probably damaging 1.00
R8444:Adcy9 UTSW 16 4,106,487 (GRCm39) missense probably damaging 1.00
R8519:Adcy9 UTSW 16 4,105,992 (GRCm39) missense possibly damaging 0.57
R8546:Adcy9 UTSW 16 4,236,769 (GRCm39) missense probably benign 0.02
R8751:Adcy9 UTSW 16 4,129,492 (GRCm39) missense probably damaging 0.97
R9004:Adcy9 UTSW 16 4,106,378 (GRCm39) missense probably damaging 1.00
R9076:Adcy9 UTSW 16 4,106,687 (GRCm39) missense probably damaging 1.00
R9351:Adcy9 UTSW 16 4,236,228 (GRCm39) missense probably damaging 1.00
R9491:Adcy9 UTSW 16 4,236,052 (GRCm39) missense probably damaging 1.00
R9571:Adcy9 UTSW 16 4,141,653 (GRCm39) missense probably benign 0.14
R9614:Adcy9 UTSW 16 4,106,547 (GRCm39) missense probably damaging 1.00
X0023:Adcy9 UTSW 16 4,141,780 (GRCm39) missense probably benign 0.00
Z1176:Adcy9 UTSW 16 4,125,096 (GRCm39) missense probably damaging 1.00
Posted On 2013-12-09