Incidental Mutation 'IGL01327:Adcy7'
ID 74351
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcy7
Ensembl Gene ENSMUSG00000031659
Gene Name adenylate cyclase 7
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.427) question?
Stock # IGL01327
Quality Score
Status
Chromosome 8
Chromosomal Location 88999031-89056590 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 89045418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000098521] [ENSMUST00000168545] [ENSMUST00000169037] [ENSMUST00000171456]
AlphaFold P51829
Predicted Effect probably benign
Transcript: ENSMUST00000098521
SMART Domains Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659

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 benign
Transcript: ENSMUST00000168545
SMART Domains Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659

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 benign
Transcript: ENSMUST00000169037
SMART Domains Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659

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 benign
Transcript: ENSMUST00000171456
SMART Domains Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659

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
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510039O18Rik T A 4: 148,029,521 (GRCm39) V497E probably damaging Het
Aldh1a2 T A 9: 71,193,248 (GRCm39) F486I possibly damaging Het
Alox12 T A 11: 70,145,375 (GRCm39) H66L probably benign Het
Apoh T G 11: 108,288,187 (GRCm39) Y102D probably damaging Het
Arl9 T C 5: 77,154,401 (GRCm39) V43A possibly damaging Het
Atf6 A G 1: 170,616,175 (GRCm39) probably null Het
Atp4a T A 7: 30,412,675 (GRCm39) I127N possibly damaging Het
AY358078 T A 14: 52,043,166 (GRCm39) probably benign Het
Baat T G 4: 49,490,338 (GRCm39) K249Q probably damaging Het
Brat1 C T 5: 140,703,963 (GRCm39) Q739* probably null Het
C8g A G 2: 25,389,089 (GRCm39) F165L probably damaging Het
Cel T G 2: 28,447,967 (GRCm39) D353A possibly damaging Het
Col6a1 G T 10: 76,546,813 (GRCm39) T803K unknown Het
Cpxm1 A G 2: 130,238,277 (GRCm39) L95P probably benign Het
Ctsr A G 13: 61,310,489 (GRCm39) probably benign Het
Cyth1 A G 11: 118,084,439 (GRCm39) probably null Het
Dync1h1 A T 12: 110,583,126 (GRCm39) probably benign Het
Ezh1 C T 11: 101,094,262 (GRCm39) C407Y probably damaging Het
Fam243 T C 16: 92,117,661 (GRCm39) Y209C probably benign Het
Gm3696 A T 14: 18,435,903 (GRCm39) W38R probably benign Het
Gm9611 T C 14: 42,116,622 (GRCm39) T39A possibly damaging Het
Gnpat T A 8: 125,605,372 (GRCm39) L287H probably damaging Het
Golm1 G T 13: 59,792,958 (GRCm39) N182K possibly damaging Het
Hdac6 T C X: 7,798,013 (GRCm39) M899V probably benign Het
Hsf3 T A X: 95,358,578 (GRCm39) M272L probably benign Het
Kif19a C T 11: 114,672,625 (GRCm39) probably benign Het
Lcn2 T G 2: 32,276,030 (GRCm39) Y100S possibly damaging Het
Lrrc8d T A 5: 105,960,131 (GRCm39) S180R probably damaging Het
Ly6h A G 15: 75,436,948 (GRCm39) probably benign Het
Macf1 T C 4: 123,403,705 (GRCm39) N705D probably benign Het
Mst1r C T 9: 107,785,043 (GRCm39) P234S probably benign Het
Msto1 T A 3: 88,817,939 (GRCm39) probably null Het
Myo5a T A 9: 75,094,820 (GRCm39) probably benign Het
Nipa1 T C 7: 55,629,409 (GRCm39) I235V probably benign Het
Nlgn3 T C X: 100,362,228 (GRCm39) V399A probably benign Het
Or1d2 T A 11: 74,255,738 (GRCm39) M81K possibly damaging Het
Or2b28 A G 13: 21,531,377 (GRCm39) N93S probably benign Het
Pih1d1 T C 7: 44,809,399 (GRCm39) S289P probably benign Het
Ppl T C 16: 4,905,508 (GRCm39) N1596D probably benign Het
Psmb6 T A 11: 70,417,412 (GRCm39) S114R possibly damaging Het
Pum1 C A 4: 130,457,854 (GRCm39) Q289K probably damaging Het
Shkbp1 T C 7: 27,054,676 (GRCm39) I75V probably benign Het
Slc24a3 T A 2: 145,444,478 (GRCm39) I284N probably benign Het
Slc44a3 C T 3: 121,320,842 (GRCm39) G53D probably damaging Het
Slc9a4 A C 1: 40,668,565 (GRCm39) D736A probably benign Het
Stra6 A G 9: 58,059,854 (GRCm39) D605G probably benign Het
Tas2r126 T A 6: 42,411,684 (GRCm39) H72Q probably benign Het
Tbrg1 C T 9: 37,564,408 (GRCm39) R166Q probably benign Het
Thumpd1 C T 7: 119,319,925 (GRCm39) G14R probably benign Het
Ticrr C T 7: 79,344,209 (GRCm39) T1358I probably benign Het
Tmtc2 A T 10: 105,184,340 (GRCm39) N518K probably benign Het
Trpm4 C A 7: 44,964,497 (GRCm39) W533C probably damaging Het
Tsen54 T C 11: 115,712,538 (GRCm39) Y119H possibly damaging Het
Tulp3 G A 6: 128,304,597 (GRCm39) T219M probably damaging Het
Usp19 T C 9: 108,376,160 (GRCm39) L1000S possibly damaging Het
Vps16 A T 2: 130,279,616 (GRCm39) Y43F probably benign Het
Vsig1 T A X: 139,838,429 (GRCm39) V283E possibly damaging Het
Other mutations in Adcy7
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-10-07