Incidental Mutation 'R1251:Adcy9'
ID 151775
Institutional Source Beutler Lab
Gene Symbol Adcy9
Ensembl Gene ENSMUSG00000005580
Gene Name adenylate cyclase 9
Synonyms D16Wsu65e, ACtp10
MMRRC Submission 039318-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.558) question?
Stock # R1251 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 4287529-4420498 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 4311531 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 497 (E497V)
Ref Sequence ENSEMBL: ENSMUSP00000113421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005719] [ENSMUST00000117801] [ENSMUST00000120080]
AlphaFold P51830
Predicted Effect probably damaging
Transcript: ENSMUST00000005719
AA Change: E734V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: E734V

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: E734V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: E734V

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: ENSMUST00000120080
AA Change: E497V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: E497V

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: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 123,962,052 (GRCm38) G495D probably damaging Het
Acap2 A T 16: 31,108,171 (GRCm38) Y509N probably damaging Het
Bcat2 T G 7: 45,575,986 (GRCm38) L56R probably damaging Het
Ccdc146 T C 5: 21,293,372 (GRCm38) M952V probably benign Het
Ccdc39 T C 3: 33,826,480 (GRCm38) K446R probably damaging Het
Cfap46 C T 7: 139,601,265 (GRCm38) V2607I probably benign Het
Clec18a T C 8: 111,081,638 (GRCm38) I54V possibly damaging Het
Coil A G 11: 88,982,299 (GRCm38) E455G possibly damaging Het
Copg1 A T 6: 87,890,007 (GRCm38) K75* probably null Het
Cyp2j12 G A 4: 96,115,666 (GRCm38) Q238* probably null Het
D17Wsu92e C T 17: 27,786,070 (GRCm38) probably null Het
Eif3i T C 4: 129,593,385 (GRCm38) E229G probably damaging Het
Exoc2 T A 13: 30,886,276 (GRCm38) N411Y probably benign Het
Eya2 T A 2: 165,754,484 (GRCm38) M305K probably damaging Het
Faim C T 9: 98,992,634 (GRCm38) T78M probably damaging Het
Fgg T A 3: 83,012,980 (GRCm38) D355E probably benign Het
Foxn1 A G 11: 78,358,785 (GRCm38) L638P probably damaging Het
Grid2ip A T 5: 143,386,015 (GRCm38) E664D possibly damaging Het
Il1rn A G 2: 24,345,570 (GRCm38) R21G probably damaging Het
Inpp4b G A 8: 81,890,753 (GRCm38) G220R probably benign Het
Irx6 A G 8: 92,678,253 (GRCm38) S250G possibly damaging Het
Lyst T C 13: 13,634,483 (GRCm38) I246T probably benign Het
Mcm3 G A 1: 20,812,672 (GRCm38) Q353* probably null Het
Mfhas1 A G 8: 35,591,053 (GRCm38) Y894C probably damaging Het
Mfsd13a T C 19: 46,372,053 (GRCm38) L348P probably damaging Het
Necab1 A G 4: 15,111,192 (GRCm38) probably null Het
Nectin3 A T 16: 46,463,842 (GRCm38) S160T possibly damaging Het
Npc2 A G 12: 84,760,884 (GRCm38) S67P probably damaging Het
Olfr1036 G A 2: 86,074,820 (GRCm38) V27M probably benign Het
Olfr513 T G 7: 108,754,907 (GRCm38) F17C probably damaging Het
Pcnx3 A G 19: 5,677,182 (GRCm38) F1108L probably benign Het
Phf21a G A 2: 92,359,199 (GRCm38) S601N probably benign Het
Pold1 C T 7: 44,535,051 (GRCm38) V842I probably benign Het
Rabgap1 A G 2: 37,543,234 (GRCm38) probably null Het
Setd1a T A 7: 127,797,424 (GRCm38) probably benign Het
Sgo2a A T 1: 57,999,962 (GRCm38) probably null Het
Sult2a8 T A 7: 14,425,425 (GRCm38) K90* probably null Het
Tlr2 T C 3: 83,838,269 (GRCm38) D169G possibly damaging Het
Tmem95 A G 11: 69,876,829 (GRCm38) F153S probably benign Het
Tube1 G T 10: 39,134,208 (GRCm38) G10* probably null Het
Vmn2r10 T C 5: 108,996,024 (GRCm38) M687V probably benign Het
Zc3h8 G A 2: 128,935,369 (GRCm38) P117S probably benign Het
Zeb1 T A 18: 5,705,089 (GRCm38) D18E probably damaging Het
Other mutations in Adcy9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Adcy9 APN 16 4,304,582 (GRCm38) missense probably benign
IGL00326:Adcy9 APN 16 4,294,696 (GRCm38) missense probably benign
IGL00792:Adcy9 APN 16 4,288,539 (GRCm38) missense probably damaging 1.00
IGL01610:Adcy9 APN 16 4,418,114 (GRCm38) missense probably damaging 1.00
IGL02376:Adcy9 APN 16 4,418,680 (GRCm38) missense probably benign 0.01
IGL02424:Adcy9 APN 16 4,288,597 (GRCm38) missense probably damaging 1.00
IGL03097:Adcy9 UTSW 16 4,418,066 (GRCm38) missense possibly damaging 0.94
PIT4243001:Adcy9 UTSW 16 4,418,407 (GRCm38) missense probably damaging 1.00
R0043:Adcy9 UTSW 16 4,289,015 (GRCm38) missense probably benign 0.12
R0085:Adcy9 UTSW 16 4,288,224 (GRCm38) missense probably benign
R0105:Adcy9 UTSW 16 4,288,388 (GRCm38) missense probably damaging 1.00
R0105:Adcy9 UTSW 16 4,288,388 (GRCm38) missense probably damaging 1.00
R0371:Adcy9 UTSW 16 4,288,047 (GRCm38) missense probably benign 0.06
R0613:Adcy9 UTSW 16 4,419,539 (GRCm38) missense probably damaging 1.00
R0689:Adcy9 UTSW 16 4,312,804 (GRCm38) splice site probably benign
R0744:Adcy9 UTSW 16 4,419,271 (GRCm38) missense possibly damaging 0.69
R0836:Adcy9 UTSW 16 4,419,271 (GRCm38) missense possibly damaging 0.69
R1223:Adcy9 UTSW 16 4,298,748 (GRCm38) missense probably damaging 1.00
R1689:Adcy9 UTSW 16 4,297,562 (GRCm38) splice site probably null
R1922:Adcy9 UTSW 16 4,311,657 (GRCm38) missense probably damaging 1.00
R1955:Adcy9 UTSW 16 4,418,659 (GRCm38) missense possibly damaging 0.63
R1989:Adcy9 UTSW 16 4,298,727 (GRCm38) missense probably damaging 1.00
R1998:Adcy9 UTSW 16 4,297,412 (GRCm38) missense probably benign 0.00
R2321:Adcy9 UTSW 16 4,288,268 (GRCm38) missense probably damaging 1.00
R3160:Adcy9 UTSW 16 4,311,588 (GRCm38) missense probably damaging 1.00
R3161:Adcy9 UTSW 16 4,311,588 (GRCm38) missense probably damaging 1.00
R3162:Adcy9 UTSW 16 4,311,588 (GRCm38) missense probably damaging 1.00
R3162:Adcy9 UTSW 16 4,311,588 (GRCm38) missense probably damaging 1.00
R4065:Adcy9 UTSW 16 4,288,434 (GRCm38) missense probably damaging 1.00
R4909:Adcy9 UTSW 16 4,298,754 (GRCm38) missense probably benign 0.03
R5078:Adcy9 UTSW 16 4,323,907 (GRCm38) missense probably benign 0.00
R5870:Adcy9 UTSW 16 4,418,368 (GRCm38) missense probably damaging 1.00
R5968:Adcy9 UTSW 16 4,298,742 (GRCm38) missense probably damaging 1.00
R5975:Adcy9 UTSW 16 4,311,567 (GRCm38) missense probably damaging 0.98
R6014:Adcy9 UTSW 16 4,418,819 (GRCm38) missense probably damaging 1.00
R6035:Adcy9 UTSW 16 4,304,513 (GRCm38) missense probably benign
R6035:Adcy9 UTSW 16 4,304,513 (GRCm38) missense probably benign
R6081:Adcy9 UTSW 16 4,294,681 (GRCm38) missense probably benign
R6192:Adcy9 UTSW 16 4,287,954 (GRCm38) missense probably benign
R6604:Adcy9 UTSW 16 4,304,407 (GRCm38) missense probably damaging 0.98
R6739:Adcy9 UTSW 16 4,418,794 (GRCm38) missense probably benign
R6829:Adcy9 UTSW 16 4,307,154 (GRCm38) critical splice donor site probably null
R6986:Adcy9 UTSW 16 4,311,577 (GRCm38) missense probably damaging 0.99
R7491:Adcy9 UTSW 16 4,418,809 (GRCm38) missense possibly damaging 0.51
R7561:Adcy9 UTSW 16 4,418,164 (GRCm38) missense probably damaging 1.00
R7614:Adcy9 UTSW 16 4,418,224 (GRCm38) missense probably damaging 1.00
R7803:Adcy9 UTSW 16 4,304,380 (GRCm38) missense probably benign 0.11
R7993:Adcy9 UTSW 16 4,418,002 (GRCm38) missense probably damaging 1.00
R8444:Adcy9 UTSW 16 4,288,623 (GRCm38) missense probably damaging 1.00
R8519:Adcy9 UTSW 16 4,288,128 (GRCm38) missense possibly damaging 0.57
R8546:Adcy9 UTSW 16 4,418,905 (GRCm38) missense probably benign 0.02
R8751:Adcy9 UTSW 16 4,311,628 (GRCm38) missense probably damaging 0.97
R9004:Adcy9 UTSW 16 4,288,514 (GRCm38) missense probably damaging 1.00
R9076:Adcy9 UTSW 16 4,288,823 (GRCm38) missense probably damaging 1.00
R9351:Adcy9 UTSW 16 4,418,364 (GRCm38) missense probably damaging 1.00
R9491:Adcy9 UTSW 16 4,418,188 (GRCm38) missense probably damaging 1.00
R9571:Adcy9 UTSW 16 4,323,789 (GRCm38) missense probably benign 0.14
R9614:Adcy9 UTSW 16 4,288,683 (GRCm38) missense probably damaging 1.00
X0023:Adcy9 UTSW 16 4,323,916 (GRCm38) missense probably benign 0.00
Z1176:Adcy9 UTSW 16 4,307,232 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AATGGGGCAGGCTCAGCATTTG -3'
(R):5'- ATTGACTCCCAGGACTCAGTGTGG -3'

Sequencing Primer
(F):5'- AGGCTCAGCATTTGTCACAG -3'
(R):5'- AGAATGGACTTCTGAGCCCTC -3'
Posted On 2014-01-29