Incidental Mutation 'R6081:Adcy9'
ID 482930
Institutional Source Beutler Lab
Gene Symbol Adcy9
Ensembl Gene ENSMUSG00000005580
Gene Name adenylate cyclase 9
Synonyms ACtp10, D16Wsu65e
MMRRC Submission 044240-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # R6081 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 4105393-4238362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4112545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 714 (D714G)
Ref Sequence ENSEMBL: ENSMUSP00000113421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005719] [ENSMUST00000117801] [ENSMUST00000120080]
AlphaFold P51830
Predicted Effect probably benign
Transcript: ENSMUST00000005719
AA Change: D951G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: D951G

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 benign
Transcript: ENSMUST00000117801
AA Change: D951G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: D951G

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 benign
Transcript: ENSMUST00000120080
AA Change: D714G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: D714G

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 93.8%
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A T 5: 109,887,097 (GRCm39) M33K probably damaging Het
4930556J24Rik T C 11: 3,888,140 (GRCm39) Q82R unknown Het
Afg3l2 G T 18: 67,554,329 (GRCm39) L458M probably damaging Het
Ahctf1 G T 1: 179,609,237 (GRCm39) A639E probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Anxa5 C T 3: 36,519,436 (GRCm39) D18N probably damaging Het
Apc C T 18: 34,423,164 (GRCm39) P299L possibly damaging Het
Btnl4 C A 17: 34,693,210 (GRCm39) W68C probably damaging Het
Cmya5 T A 13: 93,281,021 (GRCm39) probably benign Het
Cstf2t G T 19: 31,060,523 (GRCm39) V20L probably benign Het
D630045J12Rik A T 6: 38,119,633 (GRCm39) V1703E probably damaging Het
Dhx32 A G 7: 133,323,941 (GRCm39) F535S probably damaging Het
Diras2 T C 13: 52,662,181 (GRCm39) D42G probably damaging Het
Dppa3 T A 6: 122,606,931 (GRCm39) D140E probably damaging Het
Gpr180 C T 14: 118,391,086 (GRCm39) T205I probably benign Het
Gzme T G 14: 56,355,764 (GRCm39) T183P possibly damaging Het
H2-T23 T A 17: 36,342,707 (GRCm39) I144F possibly damaging Het
Hlx T C 1: 184,459,894 (GRCm39) S415G probably benign Het
Krtap5-3 G A 7: 141,755,223 (GRCm39) C20Y unknown Het
Mcm8 G T 2: 132,670,003 (GRCm39) R359L probably benign Het
Mroh2b G C 15: 4,973,859 (GRCm39) E1126Q probably damaging Het
Nav1 C T 1: 135,398,560 (GRCm39) R674H probably damaging Het
Otx1 A T 11: 21,949,406 (GRCm39) L24H probably damaging Het
Rnaset2b T A 17: 7,256,193 (GRCm39) probably null Het
Samd12 T C 15: 53,583,074 (GRCm39) K87E probably benign Het
Sec16b T C 1: 157,388,324 (GRCm39) S564P probably benign Het
Speer4a1 A T 5: 26,239,960 (GRCm39) C263* probably null Het
Susd1 C A 4: 59,411,359 (GRCm39) C158F possibly damaging Het
Vmn2r6 C T 3: 64,463,953 (GRCm39) V294M probably benign 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
IGL01610:Adcy9 APN 16 4,235,978 (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
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
Predicted Primers PCR Primer
(F):5'- CAGTATGAAACAACTGTGATCGGATAC -3'
(R):5'- AGAGAAGGTGTTCACCAGCC -3'

Sequencing Primer
(F):5'- CTGTGATCGGATACTTTAATATGCAG -3'
(R):5'- TTCCCCAGGCAGCTTATAGAAG -3'
Posted On 2017-07-14