Incidental Mutation 'PIT4283001:Adcy7'
ID 554366
Institutional Source Beutler Lab
Gene Symbol Adcy7
Ensembl Gene ENSMUSG00000031659
Gene Name adenylate cyclase 7
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # PIT4283001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 88999031-89056590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 89042120 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 373 (M373K)
Ref Sequence ENSEMBL: ENSMUSP00000096122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098521] [ENSMUST00000168545] [ENSMUST00000169037] [ENSMUST00000171456]
AlphaFold P51829
Predicted Effect probably damaging
Transcript: ENSMUST00000098521
AA Change: M373K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: M373K

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 probably damaging
Transcript: ENSMUST00000168545
AA Change: M373K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: M373K

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 probably damaging
Transcript: ENSMUST00000169037
AA Change: M373K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: M373K

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 probably damaging
Transcript: ENSMUST00000171456
AA Change: M373K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: M373K

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
Coding Region Coverage
  • 1x: 93.2%
  • 3x: 91.1%
  • 10x: 86.5%
  • 20x: 76.2%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610028H24Rik A C 10: 76,285,093 (GRCm39) M1L probably benign Het
Aacs C A 5: 125,561,719 (GRCm39) A119D probably damaging Het
Abcb1b T A 5: 8,863,693 (GRCm39) V216D probably damaging Het
Adap2 T A 11: 80,068,089 (GRCm39) L367H probably damaging Het
Arhgap31 A G 16: 38,429,354 (GRCm39) L507P probably damaging Het
Brinp3 C T 1: 146,777,161 (GRCm39) T536I probably damaging Het
Cacna1b T C 2: 24,521,953 (GRCm39) D1718G probably damaging Het
Cacna2d1 A C 5: 16,507,292 (GRCm39) Y347S probably benign Het
Carf C A 1: 60,167,161 (GRCm39) P165T probably benign Het
Cplx3 T C 9: 57,523,359 (GRCm39) E66G probably damaging Het
Dnaaf5 A G 5: 139,151,917 (GRCm39) T523A probably benign Het
Dnajc10 T C 2: 80,161,739 (GRCm39) S326P probably benign Het
Eif4enif1 A T 11: 3,184,464 (GRCm39) E528D probably damaging Het
Elp2 G A 18: 24,755,187 (GRCm39) D392N probably damaging Het
Fat1 T C 8: 45,482,577 (GRCm39) S3079P probably damaging Het
Fat1 G T 8: 45,490,244 (GRCm39) V3719F probably damaging Het
Fat3 T A 9: 15,917,897 (GRCm39) S1509C possibly damaging Het
Fcsk A G 8: 111,614,064 (GRCm39) V693A probably benign Het
Frmpd4 C T X: 166,512,030 (GRCm39) R8H possibly damaging Het
Glud1 T A 14: 34,058,129 (GRCm39) I380N probably damaging Het
Gnl2 A G 4: 124,940,099 (GRCm39) S324G probably damaging Het
Gramd1b C T 9: 40,366,752 (GRCm39) G72D probably benign Het
Gramd2b A T 18: 56,622,735 (GRCm39) E299V probably damaging Het
Grin1 C T 2: 25,187,864 (GRCm39) R544H probably damaging Het
Ifitm7 A T 16: 13,801,471 (GRCm39) V96E probably damaging Het
Lsm14b T A 2: 179,674,336 (GRCm39) M293K probably benign Het
Marf1 T A 16: 13,946,432 (GRCm39) T1230S probably benign Het
Morc2b T A 17: 33,355,042 (GRCm39) H910L probably benign Het
Mylip A G 13: 45,560,110 (GRCm39) N247S possibly damaging Het
Nup50l A G 6: 96,142,696 (GRCm39) I116T probably benign Het
Or4a73 T C 2: 89,420,572 (GRCm39) M296V probably benign Het
Osbpl3 T C 6: 50,323,068 (GRCm39) S264G probably benign Het
Pds5b C T 5: 150,701,774 (GRCm39) R802W probably damaging Het
Pik3cg T C 12: 32,255,864 (GRCm39) E41G probably damaging Het
Plk3 A G 4: 116,990,489 (GRCm39) I112T probably damaging Het
Pwp2 A G 10: 78,020,921 (GRCm39) M1T probably null Het
Rtel1 T C 2: 180,988,683 (GRCm39) I417T probably benign Het
Sirt1 A T 10: 63,157,565 (GRCm39) N616K probably benign Het
Sirt6 T C 10: 81,458,252 (GRCm39) S334G possibly damaging Het
Strc T C 2: 121,205,788 (GRCm39) Y827C probably damaging Het
Taf1b T C 12: 24,597,594 (GRCm39) Y385H possibly damaging Het
Tgm5 T C 2: 120,902,066 (GRCm39) E201G possibly damaging Het
Thbd G C 2: 148,249,003 (GRCm39) N288K probably benign Het
Ush2a T A 1: 188,169,064 (GRCm39) N1068K probably benign Het
Vmn2r52 T C 7: 9,904,756 (GRCm39) E361G possibly damaging Het
Vps13d T C 4: 144,835,158 (GRCm39) N2736S Het
Vwa5b1 A G 4: 138,327,574 (GRCm39) L334P probably damaging Het
Zan A G 5: 137,398,355 (GRCm39) S4226P unknown Het
Zdhhc24 T C 19: 4,928,778 (GRCm39) M1T probably null 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
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
R8190:Adcy7 UTSW 8 89,037,666 (GRCm39) missense possibly damaging 0.49
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'- TTGCACACTCCCGGAAACAG -3'
(R):5'- TGTCAGATCAAACAGCATGGCC -3'

Sequencing Primer
(F):5'- ACTCCCGGAAACAGGATGCTTG -3'
(R):5'- ACTTGGGGGATGCCTGCTC -3'
Posted On 2019-06-07