Incidental Mutation 'R3162:Adcy9'
ID 271700
Institutional Source Beutler Lab
Gene Symbol Adcy9
Ensembl Gene ENSMUSG00000005580
Gene Name adenylate cyclase 9
Synonyms ACtp10, D16Wsu65e
MMRRC Submission 040613-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.527) question?
Stock # R3162 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 4105393-4238362 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 4129452 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 715 (L715P)
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: L715P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: L715P

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: L715P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: L715P

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: L478P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: L478P

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
Meta Mutation Damage Score 0.3861 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
Validation Efficiency 98% (49/50)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T C 5: 64,053,833 (GRCm39) probably benign Het
4933412E24Rik T A 15: 59,888,134 (GRCm39) E102V probably damaging Het
Adgre4 T C 17: 56,109,218 (GRCm39) probably benign Het
Amer2 A G 14: 60,616,000 (GRCm39) D65G probably damaging Het
Atad2b C A 12: 4,989,689 (GRCm39) N133K possibly damaging Het
AW551984 C A 9: 39,504,325 (GRCm39) R547L probably damaging Het
B3galt6 A G 4: 156,076,464 (GRCm39) Y204H probably benign Het
Btnl2 T C 17: 34,577,039 (GRCm39) W65R probably damaging Het
Camk1g T C 1: 193,042,115 (GRCm39) T45A possibly damaging Het
Caps2 C A 10: 112,018,391 (GRCm39) Y180* probably null Het
Ccdc181 T A 1: 164,107,865 (GRCm39) S183T probably damaging Het
Cdc14b A G 13: 64,394,422 (GRCm39) probably benign Het
Cep350 T C 1: 155,738,910 (GRCm39) H2311R probably benign Het
Cfap54 T A 10: 92,881,140 (GRCm39) K349N probably damaging Het
Copa T A 1: 171,918,800 (GRCm39) C127S probably damaging Het
Crbn T C 6: 106,767,827 (GRCm39) Q221R probably benign Het
Dapk2 T G 9: 66,161,893 (GRCm39) V267G probably damaging Het
Ddb1 T C 19: 10,603,335 (GRCm39) L881P probably damaging Het
Decr1 T A 4: 15,930,972 (GRCm39) D120V probably damaging Het
Dennd1c C T 17: 57,373,562 (GRCm39) G637D possibly damaging Het
Dhrs3 A G 4: 144,646,016 (GRCm39) D108G possibly damaging Het
Disp1 T C 1: 182,868,806 (GRCm39) K1205E probably benign Het
Dnajc13 G T 9: 104,097,097 (GRCm39) N510K possibly damaging Het
Dusp6 T C 10: 99,099,944 (GRCm39) Y131H probably damaging Het
Eif2b2 A T 12: 85,266,435 (GRCm39) M34L probably benign Het
Epsti1 A T 14: 78,211,953 (GRCm39) probably benign Het
Errfi1 G A 4: 150,951,816 (GRCm39) E415K probably damaging Het
Ext1 T C 15: 53,208,000 (GRCm39) N254D possibly damaging Het
Gm7337 A C 5: 87,999,416 (GRCm39) noncoding transcript Het
Hnrnpu T C 1: 178,158,690 (GRCm39) probably benign Het
Hyal3 T A 9: 107,464,005 (GRCm39) C407S probably damaging Het
Insr T G 8: 3,211,416 (GRCm39) N1141T possibly damaging Het
Ipo9 T C 1: 135,337,214 (GRCm39) T174A probably benign Het
Iqgap1 G A 7: 80,402,086 (GRCm39) A393V probably benign Het
Irak2 G T 6: 113,649,721 (GRCm39) A119S probably benign Het
Itgb2l A G 16: 96,238,589 (GRCm39) L70P probably damaging Het
Itsn1 C A 16: 91,649,932 (GRCm39) S202* probably null Het
Ivd T C 2: 118,692,650 (GRCm39) probably null Het
Leprot C T 4: 101,515,090 (GRCm39) T89I probably damaging Het
Lratd2 A T 15: 60,695,296 (GRCm39) V150E probably damaging Het
Mill2 A C 7: 18,590,099 (GRCm39) E127A probably benign Het
Msh6 T C 17: 88,292,909 (GRCm39) Y555H probably damaging Het
Myo18b A C 5: 112,840,594 (GRCm39) S2400A probably damaging Het
Naa25 A G 5: 121,573,135 (GRCm39) probably null Het
Nop2 A G 6: 125,111,555 (GRCm39) N96S probably benign Het
Nup155 G T 15: 8,177,867 (GRCm39) R1083S possibly damaging Het
Nusap1 A T 2: 119,460,885 (GRCm39) Q126L possibly damaging Het
Or11g24 T A 14: 50,662,488 (GRCm39) C171S probably damaging Het
Or13c7b T A 4: 43,820,544 (GRCm39) K272N probably benign Het
Or2z2 T C 11: 58,346,053 (GRCm39) T241A probably damaging Het
Or4c52 T G 2: 89,845,365 (GRCm39) Y30* probably null Het
Or5al1 T C 2: 85,990,439 (GRCm39) I92V probably benign Het
Or6x1 G T 9: 40,098,901 (GRCm39) Q163H probably benign Het
Or7a35 C A 10: 78,853,438 (GRCm39) T94N probably benign Het
Pde5a T A 3: 122,575,277 (GRCm39) L356* probably null Het
Pdik1l A G 4: 134,011,561 (GRCm39) L94S probably damaging Het
Pkdrej T A 15: 85,700,818 (GRCm39) D1706V probably damaging Het
Pkhd1l1 A G 15: 44,368,924 (GRCm39) I856M probably damaging Het
Prkcz A T 4: 155,374,981 (GRCm39) D114E probably benign Het
Prss59 A G 6: 40,903,003 (GRCm39) M123T probably benign Het
Psap T C 10: 60,113,575 (GRCm39) L4P possibly damaging Het
Ptprk T C 10: 28,468,822 (GRCm39) V1402A probably benign Het
Rai14 T C 15: 10,633,250 (GRCm39) T47A possibly damaging Het
Ralgapa1 A T 12: 55,756,371 (GRCm39) N1075K probably damaging Het
Rlf A G 4: 121,006,044 (GRCm39) S979P probably damaging Het
Rps2 G T 17: 24,939,952 (GRCm39) A129S probably benign Het
Serinc2 A G 4: 130,154,528 (GRCm39) S175P probably benign Het
Skic2 C T 17: 35,066,789 (GRCm39) W88* probably null Het
Socs5 A T 17: 87,442,146 (GRCm39) Q362L probably damaging Het
Srbd1 A T 17: 86,437,643 (GRCm39) D233E probably benign Het
Srgap3 A G 6: 112,706,619 (GRCm39) V826A probably benign Het
Tacr2 A G 10: 62,101,024 (GRCm39) D378G probably benign Het
Taok2 A G 7: 126,474,347 (GRCm39) I294T possibly damaging Het
Tert A G 13: 73,775,528 (GRCm39) E93G possibly damaging Het
Tns2 A G 15: 102,021,771 (GRCm39) E1118G possibly damaging Het
Topaz1 T C 9: 122,578,446 (GRCm39) I452T probably benign Het
Trak1 C T 9: 121,280,800 (GRCm39) probably benign Het
Ttc22 A T 4: 106,480,276 (GRCm39) I177F probably damaging Het
Tuba8 A G 6: 121,199,697 (GRCm39) D127G possibly damaging Het
Tulp4 A G 17: 6,248,983 (GRCm39) M1V probably null Het
Urb1 A G 16: 90,594,791 (GRCm39) L247P probably damaging Het
Usp32 A G 11: 84,916,362 (GRCm39) W861R probably damaging Het
Vmn1r48 G A 6: 90,013,360 (GRCm39) T155I probably benign Het
Vmn2r117 A G 17: 23,679,352 (GRCm39) L624P probably damaging Het
Vmn2r86 T C 10: 130,291,673 (GRCm39) R31G probably damaging Het
Vstm5 T G 9: 15,168,594 (GRCm39) S53A probably benign Het
Wnt5a T C 14: 28,244,445 (GRCm39) Y231H probably benign Het
Yeats2 T C 16: 20,012,395 (GRCm39) V531A probably damaging Het
Zw10 T C 9: 48,988,860 (GRCm39) Y709H 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
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
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
Predicted Primers PCR Primer
(F):5'- TGGGTATATCAGGCAGTATATAGTG -3'
(R):5'- TTGACTCCCAGGACTCAGTG -3'

Sequencing Primer
(F):5'- GTGAATTTCAAGTTACCCCATAACAC -3'
(R):5'- TCCCAGGACTCAGTGTGGAG -3'
Posted On 2015-03-25