Incidental Mutation 'R8190:Adcy7'
ID 635084
Institutional Source Beutler Lab
Gene Symbol Adcy7
Ensembl Gene ENSMUSG00000031659
Gene Name adenylate cyclase 7
Synonyms
MMRRC Submission 067613-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R8190 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 88999031-89056590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 89037666 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 245 (M245V)
Ref Sequence ENSEMBL: ENSMUSP00000096122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098521] [ENSMUST00000168545] [ENSMUST00000169037] [ENSMUST00000171456]
AlphaFold P51829
Predicted Effect possibly damaging
Transcript: ENSMUST00000098521
AA Change: M245V

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: M245V

DomainStartEndE-ValueType
transmembrane domain 34 53 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 92 113 N/A INTRINSIC
transmembrane domain 123 140 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 179 198 N/A INTRINSIC
CYCc 226 434 2.99e-64 SMART
low complexity region 457 473 N/A INTRINSIC
Pfam:DUF1053 487 594 8.8e-27 PFAM
transmembrane domain 620 642 N/A INTRINSIC
transmembrane domain 670 692 N/A INTRINSIC
transmembrane domain 719 741 N/A INTRINSIC
transmembrane domain 748 770 N/A INTRINSIC
transmembrane domain 816 833 N/A INTRINSIC
low complexity region 847 858 N/A INTRINSIC
CYCc 859 1071 1.54e-43 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000168545
AA Change: M245V

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: M245V

DomainStartEndE-ValueType
transmembrane domain 34 53 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 92 113 N/A INTRINSIC
transmembrane domain 123 140 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 179 198 N/A INTRINSIC
CYCc 226 434 2.99e-64 SMART
low complexity region 457 473 N/A INTRINSIC
Pfam:DUF1053 487 594 8.8e-27 PFAM
transmembrane domain 620 642 N/A INTRINSIC
transmembrane domain 670 692 N/A INTRINSIC
transmembrane domain 719 741 N/A INTRINSIC
transmembrane domain 748 770 N/A INTRINSIC
transmembrane domain 816 833 N/A INTRINSIC
low complexity region 847 858 N/A INTRINSIC
CYCc 859 1071 1.54e-43 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000169037
AA Change: M245V

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: M245V

DomainStartEndE-ValueType
transmembrane domain 34 53 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 92 113 N/A INTRINSIC
transmembrane domain 123 140 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
transmembrane domain 179 198 N/A INTRINSIC
CYCc 226 434 2.99e-64 SMART
low complexity region 457 473 N/A INTRINSIC
Pfam:DUF1053 487 594 8.8e-27 PFAM
transmembrane domain 620 642 N/A INTRINSIC
transmembrane domain 670 692 N/A INTRINSIC
transmembrane domain 719 741 N/A INTRINSIC
transmembrane domain 748 770 N/A INTRINSIC
transmembrane domain 816 833 N/A INTRINSIC
low complexity region 847 858 N/A INTRINSIC
CYCc 859 1071 1.54e-43 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000171456
AA Change: M245V

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: M245V

DomainStartEndE-ValueType
low complexity region 91 104 N/A INTRINSIC
low complexity region 126 142 N/A INTRINSIC
CYCc 226 434 2.99e-64 SMART
low complexity region 457 473 N/A INTRINSIC
Pfam:DUF1053 487 594 1.2e-35 PFAM
transmembrane domain 620 642 N/A INTRINSIC
transmembrane domain 670 692 N/A INTRINSIC
transmembrane domain 719 741 N/A INTRINSIC
transmembrane domain 748 770 N/A INTRINSIC
transmembrane domain 816 833 N/A INTRINSIC
low complexity region 847 858 N/A INTRINSIC
CYCc 859 1071 1.54e-43 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000210688
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display some degree of pre- or postnatal lethality. Surviving adults for one allele appear to be normal. Heterozygous females for one allele display decreased depression related behaviors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 T C 14: 29,706,030 (GRCm39) V113A possibly damaging Het
Adgra1 G T 7: 139,456,034 (GRCm39) R554L probably benign Het
Agfg2 T A 5: 137,653,664 (GRCm39) M351L probably benign Het
Ahnak G A 19: 8,979,619 (GRCm39) G301D probably benign Het
Ambra1 C T 2: 91,602,697 (GRCm39) A227V possibly damaging Het
Ankrd24 T A 10: 81,474,152 (GRCm39) D166E unknown Het
Anks1 C T 17: 28,205,778 (GRCm39) P341S probably benign Het
Ano4 C T 10: 88,808,607 (GRCm39) D766N probably benign Het
Apol7e A T 15: 77,602,007 (GRCm39) T202S possibly damaging Het
Arhgap44 C A 11: 64,929,479 (GRCm39) C275F probably damaging Het
Arl6ip4 A C 5: 124,255,095 (GRCm39) K95T probably damaging Het
Bbs9 T C 9: 22,590,284 (GRCm39) L674P probably damaging Het
Bmp4 T A 14: 46,621,972 (GRCm39) M191L probably benign Het
Celsr1 A G 15: 85,787,090 (GRCm39) L2753P probably damaging Het
Cerkl T A 2: 79,163,901 (GRCm39) H473L probably benign Het
Cfap99 A T 5: 34,482,502 (GRCm39) T538S possibly damaging Het
Clock A T 5: 76,375,051 (GRCm39) V706E probably damaging Het
Cpne6 T C 14: 55,749,485 (GRCm39) M15T probably benign Het
Deaf1 T C 7: 140,894,324 (GRCm39) D351G probably damaging Het
Dnajb8 C T 6: 88,199,940 (GRCm39) R159C possibly damaging Het
Eif3j1 A T 2: 121,877,969 (GRCm39) D119V probably damaging Het
Eps8l1 C A 7: 4,474,297 (GRCm39) S195Y probably benign Het
Exosc5 T C 7: 25,365,769 (GRCm39) probably null Het
Fabp2 A T 3: 122,690,419 (GRCm39) H34L probably benign Het
Fbln5 T A 12: 101,723,555 (GRCm39) Q382L probably damaging Het
Fbxo34 C A 14: 47,767,879 (GRCm39) T464K possibly damaging Het
Fndc8 T G 11: 82,788,686 (GRCm39) V172G probably damaging Het
Frs2 C T 10: 116,910,784 (GRCm39) V193I possibly damaging Het
Gadd45a A G 6: 67,013,813 (GRCm39) I44T possibly damaging Het
Gprin3 A G 6: 59,331,456 (GRCm39) S284P possibly damaging Het
Gsta4 T C 9: 78,105,654 (GRCm39) V28A possibly damaging Het
Herc1 T A 9: 66,325,733 (GRCm39) D1402E probably benign Het
Hipk2 A T 6: 38,795,728 (GRCm39) S180R possibly damaging Het
Hrg A T 16: 22,779,793 (GRCm39) H357L unknown Het
Htr4 A G 18: 62,570,971 (GRCm39) Q342R possibly damaging Het
Impa1 A G 3: 10,386,688 (GRCm39) S184P possibly damaging Het
Iqgap3 A T 3: 87,998,086 (GRCm39) Q281L probably damaging Het
Kcnh8 C T 17: 53,263,936 (GRCm39) P811L probably damaging Het
Lpin1 T C 12: 16,599,003 (GRCm39) I628V Het
Lrrc38 G A 4: 143,077,303 (GRCm39) G189R probably damaging Het
Mfn1 A T 3: 32,622,538 (GRCm39) I599F possibly damaging Het
Nalcn T A 14: 123,837,351 (GRCm39) R4S possibly damaging Het
Nbeal2 C T 9: 110,455,158 (GRCm39) R2580Q probably benign Het
Nlrp4b A G 7: 10,448,319 (GRCm39) N174S probably damaging Het
Or3a4 T A 11: 73,945,305 (GRCm39) R93S probably benign Het
Or4q3 A T 14: 50,583,179 (GRCm39) V240D probably damaging Het
Or52a5 A T 7: 103,426,802 (GRCm39) V250D probably damaging Het
Or5p63 A G 7: 107,811,014 (GRCm39) F241L possibly damaging Het
Pabpc2 G A 18: 39,908,520 (GRCm39) R595Q probably benign Het
Pak6 C T 2: 118,520,578 (GRCm39) Q190* probably null Het
Pds5a A T 5: 65,781,341 (GRCm39) H1046Q probably damaging Het
Plin1 A G 7: 79,373,028 (GRCm39) S314P probably benign Het
Pramel20 T G 4: 143,298,530 (GRCm39) Y158D probably benign Het
Ptpra G A 2: 30,328,351 (GRCm39) S224N probably damaging Het
Rbp1 T G 9: 98,326,709 (GRCm39) W107G probably damaging Het
Rgs7bp T C 13: 105,189,617 (GRCm39) N61D probably damaging Het
Slc1a6 A G 10: 78,627,067 (GRCm39) T135A probably damaging Het
Smarcc1 T A 9: 110,031,602 (GRCm39) D783E probably benign Het
Sufu G T 19: 46,389,636 (GRCm39) E86* probably null Het
Synm A T 7: 67,383,654 (GRCm39) M1336K probably benign Het
Tgm1 C T 14: 55,942,341 (GRCm39) G670D probably damaging Het
Tmc8 T G 11: 117,682,186 (GRCm39) probably null Het
Togaram1 T C 12: 65,053,686 (GRCm39) V1322A probably damaging Het
Uxs1 A T 1: 43,810,911 (GRCm39) I225K possibly damaging Het
Vil1 G T 1: 74,474,052 (GRCm39) E796* probably null Het
Vmn1r174 T C 7: 23,453,568 (GRCm39) F78S probably damaging Het
Vps13d T A 4: 144,879,321 (GRCm39) I1501F Het
Vps8 A T 16: 21,393,780 (GRCm39) T1216S possibly damaging Het
Yipf4 G T 17: 74,800,967 (GRCm39) R95L probably damaging Het
Zan T A 5: 137,465,346 (GRCm39) T470S probably damaging Het
Zfp113 G T 5: 138,143,258 (GRCm39) H331N probably damaging Het
Zfp62 A G 11: 49,106,902 (GRCm39) Y331C probably damaging Het
Zfyve26 T C 12: 79,327,610 (GRCm39) H580R probably benign Het
Other mutations in Adcy7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01327:Adcy7 APN 8 89,045,418 (GRCm39) splice site probably benign
IGL01434:Adcy7 APN 8 89,051,472 (GRCm39) missense probably damaging 1.00
IGL01784:Adcy7 APN 8 89,040,751 (GRCm39) missense probably damaging 1.00
IGL02506:Adcy7 APN 8 89,044,571 (GRCm39) missense probably damaging 1.00
IGL03184:Adcy7 APN 8 89,035,271 (GRCm39) missense probably benign 0.00
IGL03406:Adcy7 APN 8 89,044,947 (GRCm39) nonsense probably null
Churchill UTSW 8 89,042,387 (GRCm39) missense probably damaging 1.00
democracy UTSW 8 89,042,384 (GRCm39) missense probably damaging 1.00
Dictatorship UTSW 8 89,037,736 (GRCm39) missense possibly damaging 0.80
periphery UTSW 8 89,044,565 (GRCm39) missense probably benign 0.01
republic UTSW 8 89,040,765 (GRCm39) missense probably damaging 1.00
tyranny UTSW 8 89,038,856 (GRCm39) missense possibly damaging 0.76
PIT4283001:Adcy7 UTSW 8 89,042,120 (GRCm39) missense probably damaging 1.00
PIT4453001:Adcy7 UTSW 8 89,050,264 (GRCm39) missense probably benign 0.07
R0265:Adcy7 UTSW 8 89,051,391 (GRCm39) missense probably damaging 0.96
R0963:Adcy7 UTSW 8 89,038,893 (GRCm39) missense probably damaging 1.00
R0990:Adcy7 UTSW 8 89,052,080 (GRCm39) missense possibly damaging 0.57
R1055:Adcy7 UTSW 8 89,044,685 (GRCm39) splice site probably benign
R1494:Adcy7 UTSW 8 89,046,835 (GRCm39) missense probably benign 0.00
R1764:Adcy7 UTSW 8 89,035,468 (GRCm39) missense probably benign 0.00
R2062:Adcy7 UTSW 8 89,038,902 (GRCm39) missense probably damaging 1.00
R2090:Adcy7 UTSW 8 89,042,485 (GRCm39) missense probably damaging 0.98
R2201:Adcy7 UTSW 8 89,044,606 (GRCm39) missense probably damaging 1.00
R2413:Adcy7 UTSW 8 89,036,446 (GRCm39) missense probably benign 0.20
R2849:Adcy7 UTSW 8 89,054,021 (GRCm39) missense probably benign 0.38
R4020:Adcy7 UTSW 8 89,035,362 (GRCm39) missense probably benign 0.00
R4086:Adcy7 UTSW 8 89,042,414 (GRCm39) missense probably benign 0.01
R4679:Adcy7 UTSW 8 89,044,565 (GRCm39) missense probably benign 0.01
R5069:Adcy7 UTSW 8 89,054,325 (GRCm39) missense probably damaging 1.00
R5253:Adcy7 UTSW 8 89,040,742 (GRCm39) missense probably damaging 1.00
R5286:Adcy7 UTSW 8 89,051,487 (GRCm39) missense probably damaging 1.00
R5427:Adcy7 UTSW 8 89,052,829 (GRCm39) critical splice donor site probably null
R5457:Adcy7 UTSW 8 89,037,649 (GRCm39) missense probably damaging 1.00
R5689:Adcy7 UTSW 8 89,051,412 (GRCm39) missense probably benign 0.00
R5907:Adcy7 UTSW 8 89,038,856 (GRCm39) missense possibly damaging 0.76
R5909:Adcy7 UTSW 8 89,052,124 (GRCm39) missense probably damaging 1.00
R5997:Adcy7 UTSW 8 89,053,020 (GRCm39) missense probably benign 0.41
R6038:Adcy7 UTSW 8 89,049,608 (GRCm39) missense probably benign 0.01
R6038:Adcy7 UTSW 8 89,049,608 (GRCm39) missense probably benign 0.01
R6133:Adcy7 UTSW 8 89,052,067 (GRCm39) missense possibly damaging 0.84
R6190:Adcy7 UTSW 8 89,052,358 (GRCm39) splice site probably null
R6213:Adcy7 UTSW 8 89,040,765 (GRCm39) missense probably damaging 1.00
R6287:Adcy7 UTSW 8 89,037,736 (GRCm39) missense possibly damaging 0.80
R6502:Adcy7 UTSW 8 89,052,107 (GRCm39) missense probably damaging 1.00
R6989:Adcy7 UTSW 8 89,035,414 (GRCm39) missense probably benign
R7042:Adcy7 UTSW 8 89,042,378 (GRCm39) missense probably damaging 0.99
R7829:Adcy7 UTSW 8 89,042,387 (GRCm39) missense probably damaging 1.00
R8067:Adcy7 UTSW 8 89,037,697 (GRCm39) missense probably damaging 1.00
R8113:Adcy7 UTSW 8 89,048,431 (GRCm39) missense probably damaging 1.00
R8118:Adcy7 UTSW 8 89,042,384 (GRCm39) missense probably damaging 1.00
R8402:Adcy7 UTSW 8 89,035,363 (GRCm39) missense probably benign 0.30
R8421:Adcy7 UTSW 8 89,048,812 (GRCm39) missense probably benign 0.06
R8549:Adcy7 UTSW 8 89,052,818 (GRCm39) missense probably benign
R8827:Adcy7 UTSW 8 89,036,327 (GRCm39) missense possibly damaging 0.73
R9076:Adcy7 UTSW 8 89,054,336 (GRCm39) missense probably damaging 1.00
R9228:Adcy7 UTSW 8 89,044,675 (GRCm39) critical splice donor site probably null
R9276:Adcy7 UTSW 8 89,052,014 (GRCm39) missense probably damaging 1.00
R9465:Adcy7 UTSW 8 89,046,778 (GRCm39) missense probably benign 0.42
R9515:Adcy7 UTSW 8 89,037,646 (GRCm39) missense possibly damaging 0.90
R9536:Adcy7 UTSW 8 89,053,026 (GRCm39) missense possibly damaging 0.78
R9564:Adcy7 UTSW 8 89,053,053 (GRCm39) frame shift probably null
R9565:Adcy7 UTSW 8 89,053,053 (GRCm39) frame shift probably null
R9659:Adcy7 UTSW 8 89,045,733 (GRCm39) missense probably benign 0.00
R9735:Adcy7 UTSW 8 89,037,262 (GRCm39) missense probably benign 0.16
R9788:Adcy7 UTSW 8 89,045,733 (GRCm39) missense probably benign 0.00
X0067:Adcy7 UTSW 8 89,051,228 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGCCACGTAGATATAAACGCG -3'
(R):5'- TCCTGTATAGACTGAAGCTCCC -3'

Sequencing Primer
(F):5'- CACGTAGATATAAACGCGCAGGAAAC -3'
(R):5'- TATCTCCCTAGAACCAGGGGAGTG -3'
Posted On 2020-07-13