Incidental Mutation 'R2090:Adcy7'
ID 231717
Institutional Source Beutler Lab
Gene Symbol Adcy7
Ensembl Gene ENSMUSG00000031659
Gene Name adenylate cyclase 7
Synonyms
MMRRC Submission 040095-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R2090 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 88999031-89056590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89042485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 451 (T451S)
Ref Sequence ENSEMBL: ENSMUSP00000132528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098521] [ENSMUST00000168545] [ENSMUST00000169037] [ENSMUST00000171456]
AlphaFold P51829
Predicted Effect probably damaging
Transcript: ENSMUST00000098521
AA Change: T451S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: T451S

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: T451S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: T451S

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: T451S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: T451S

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: T451S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: T451S

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 unknown
Transcript: ENSMUST00000210688
AA Change: T151S
Meta Mutation Damage Score 0.9095 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A G 8: 25,391,456 (GRCm39) probably null Het
Adgrg3 A T 8: 95,766,558 (GRCm39) T410S possibly damaging Het
Alg11 G T 8: 22,555,646 (GRCm39) L302F possibly damaging Het
Ankrd17 A G 5: 90,445,905 (GRCm39) V310A possibly damaging Het
Atg16l2 C T 7: 100,942,575 (GRCm39) probably null Het
B3gnt2 A G 11: 22,786,291 (GRCm39) V299A probably benign Het
Birc6 A G 17: 74,969,791 (GRCm39) N4258S probably benign Het
C2cd4d A G 3: 94,271,321 (GRCm39) K196E probably benign Het
Calhm6 A G 10: 34,002,358 (GRCm39) S242P probably damaging Het
Cdr2l A G 11: 115,281,827 (GRCm39) K111E probably damaging Het
Crtam T C 9: 40,895,612 (GRCm39) Q41R possibly damaging Het
Cspp1 A G 1: 10,160,493 (GRCm39) K560R possibly damaging Het
Dcaf15 A T 8: 84,824,400 (GRCm39) Y571* probably null Het
Defa39 A T 8: 22,192,805 (GRCm39) W64R possibly damaging Het
Dpy19l4 T C 4: 11,304,344 (GRCm39) Y99C probably benign Het
Edem3 C T 1: 151,680,577 (GRCm39) probably benign Het
Enpp6 A T 8: 47,518,405 (GRCm39) probably null Het
Foxf2 T A 13: 31,810,824 (GRCm39) D254E probably benign Het
Gjb5 T C 4: 127,249,794 (GRCm39) N117D probably benign Het
Glmn G A 5: 107,709,794 (GRCm39) L337F probably damaging Het
Gsdmc2 T A 15: 63,698,675 (GRCm39) Y307F probably benign Het
Gsdmc3 T A 15: 63,738,631 (GRCm39) M144L probably benign Het
Ibtk A G 9: 85,603,046 (GRCm39) I653T probably benign Het
Il24 T G 1: 130,812,574 (GRCm39) D99A possibly damaging Het
Intu A G 3: 40,637,966 (GRCm39) Q484R probably benign Het
Iqca1l A G 5: 24,755,674 (GRCm39) S283P probably benign Het
Lsp1 T C 7: 142,045,544 (GRCm39) probably benign Het
Mad1l1 A G 5: 139,995,011 (GRCm39) S672P probably benign Het
Man2a2 A T 7: 80,013,858 (GRCm39) probably benign Het
Morc3 C A 16: 93,663,341 (GRCm39) H515N probably benign Het
Nav1 T C 1: 135,534,903 (GRCm39) probably benign Het
Ndor1 A G 2: 25,139,230 (GRCm39) L247P probably damaging Het
Nfkbiz A T 16: 55,636,818 (GRCm39) F494L probably benign Het
Nr1d1 G A 11: 98,661,436 (GRCm39) P277S probably damaging Het
Nrg2 T C 18: 36,151,496 (GRCm39) D682G probably benign Het
Nrros C T 16: 31,962,975 (GRCm39) W311* probably null Het
Oasl1 G A 5: 115,073,993 (GRCm39) D301N probably damaging Het
Or10ag56 A T 2: 87,139,762 (GRCm39) I230F probably benign Het
Or14a258 A T 7: 86,035,289 (GRCm39) I193N probably benign Het
Or5h26 A G 16: 58,988,503 (GRCm39) M1T probably null Het
Palmd A G 3: 116,721,083 (GRCm39) S123P probably damaging Het
Patj A G 4: 98,325,560 (GRCm39) probably benign Het
Pcsk4 T C 10: 80,161,655 (GRCm39) D162G probably benign Het
Plppr5 A G 3: 117,369,520 (GRCm39) D59G possibly damaging Het
Pmvk A C 3: 89,369,189 (GRCm39) R11S possibly damaging Het
Pnliprp1 A G 19: 58,728,901 (GRCm39) T363A probably benign Het
Poll A T 19: 45,547,277 (GRCm39) I65N probably benign Het
Prox1 T A 1: 189,893,009 (GRCm39) S479C probably damaging Het
Prss50 A T 9: 110,691,361 (GRCm39) S222C probably damaging Het
Rasa3 A C 8: 13,632,381 (GRCm39) probably benign Het
Sec14l3 T C 11: 4,025,481 (GRCm39) V335A probably benign Het
Setbp1 C T 18: 78,899,935 (GRCm39) S1244N probably benign Het
Sgcg A T 14: 61,483,213 (GRCm39) F63I probably damaging Het
Skp2 C A 15: 9,113,786 (GRCm39) G376C probably damaging Het
Slc2a13 T A 15: 91,400,695 (GRCm39) I176F probably benign Het
Smc6 A G 12: 11,339,987 (GRCm39) T432A probably benign Het
Snx25 G A 8: 46,509,150 (GRCm39) P478L probably damaging Het
Taf2 A T 15: 54,879,882 (GRCm39) H1151Q probably damaging Het
Thsd1 A G 8: 22,749,673 (GRCm39) K795R possibly damaging Het
Tmem108 G A 9: 103,361,976 (GRCm39) L537F possibly damaging Het
Ubr3 T C 2: 69,766,361 (GRCm39) Y410H probably damaging Het
Vav3 T C 3: 109,555,055 (GRCm39) probably null Het
Vmn1r224 T C 17: 20,639,524 (GRCm39) Y34H probably benign Het
Zeb1 T C 18: 5,766,458 (GRCm39) V323A possibly damaging Het
Zfp652 A G 11: 95,644,834 (GRCm39) D240G probably benign Het
Zfp963 A T 8: 70,195,996 (GRCm39) C152* 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
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
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'- TGTGGTCCCATGATGTGTCC -3'
(R):5'- GATGCCTGAATGTTCCCAGTTC -3'

Sequencing Primer
(F):5'- ATGATGTGTCCCTGGCCAAC -3'
(R):5'- TTCCCAGTTCAAGGAAGTGC -3'
Posted On 2014-09-18