Incidental Mutation 'R5909:Adcy7'
ID 460853
Institutional Source Beutler Lab
Gene Symbol Adcy7
Ensembl Gene ENSMUSG00000031659
Gene Name adenylate cyclase 7
Synonyms
MMRRC Submission 044106-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.381) question?
Stock # R5909 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 88999031-89056590 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89052124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 931 (I931F)
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: I931F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: I931F

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: I931F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: I931F

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: I931F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: I931F

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: I931F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: I931F

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: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.6%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts8 T C 9: 30,873,224 (GRCm39) S810P probably benign Het
Alcam G T 16: 52,111,356 (GRCm39) Q248K probably benign Het
Astn1 A C 1: 158,429,507 (GRCm39) R750S probably damaging Het
Atp1a2 A T 1: 172,114,797 (GRCm39) N329K probably damaging Het
Bcl6 A G 16: 23,791,556 (GRCm39) V266A probably benign Het
Bdp1 A G 13: 100,228,794 (GRCm39) V278A probably benign Het
Ccdc162 T C 10: 41,437,111 (GRCm39) E493G probably damaging Het
Cpvl T C 6: 53,909,413 (GRCm39) Y241C probably damaging Het
Ddx55 T C 5: 124,704,913 (GRCm39) M390T probably benign Het
Ero1b A G 13: 12,594,139 (GRCm39) E102G probably benign Het
Etnk1 A G 6: 143,143,164 (GRCm39) D273G probably benign Het
Exoc3 A G 13: 74,347,643 (GRCm39) V109A probably damaging Het
F830016B08Rik T A 18: 60,433,091 (GRCm39) I58N probably damaging Het
Fancd2 T A 6: 113,538,672 (GRCm39) V589E probably benign Het
Fbll1 G A 11: 35,689,159 (GRCm39) R35C unknown Het
Fnbp1 A G 2: 30,938,211 (GRCm39) probably null Het
Glce G T 9: 61,967,426 (GRCm39) A575D probably damaging Het
Ift20 T A 11: 78,430,867 (GRCm39) M70K possibly damaging Het
Impg2 T C 16: 56,078,499 (GRCm39) V487A probably damaging Het
Isx A G 8: 75,619,426 (GRCm39) D206G probably benign Het
Jak3 A G 8: 72,136,875 (GRCm39) I684V possibly damaging Het
Kdm5d G A Y: 941,306 (GRCm39) S1169N probably benign Het
Krt35 A T 11: 99,986,639 (GRCm39) L125Q probably damaging Het
Lama4 G A 10: 38,948,855 (GRCm39) A873T probably benign Het
Lrch4 T C 5: 137,632,127 (GRCm39) S74P possibly damaging Het
Maneal A T 4: 124,750,966 (GRCm39) Y263* probably null Het
Mcat C T 15: 83,432,116 (GRCm39) A251T probably benign Het
Mup3 T G 4: 62,004,244 (GRCm39) T90P probably benign Het
Mybpc2 G A 7: 44,156,515 (GRCm39) A812V probably damaging Het
Naa15 T C 3: 51,367,485 (GRCm39) F503L probably damaging Het
Nudt8 T C 19: 4,050,727 (GRCm39) L25S possibly damaging Het
Oas1e A T 5: 120,926,972 (GRCm39) V245D probably damaging Het
Ofcc1 A G 13: 40,417,054 (GRCm39) M109T possibly damaging Het
Or4c58 A G 2: 89,674,735 (GRCm39) V194A possibly damaging Het
Or4p18 A T 2: 88,232,535 (GRCm39) F248I probably damaging Het
Phkb G T 8: 86,748,076 (GRCm39) probably null Het
Pidd1 A C 7: 141,021,183 (GRCm39) L365R probably damaging Het
Pira12 G A 7: 3,900,621 (GRCm39) T43I probably damaging Het
Pkd1l2 G A 8: 117,750,795 (GRCm39) R1739C probably benign Het
Pkdrej A T 15: 85,702,497 (GRCm39) D1146E possibly damaging Het
Pkhd1l1 G T 15: 44,390,159 (GRCm39) W1425L probably damaging Het
Plxna4 A G 6: 32,494,181 (GRCm39) L145P probably damaging Het
Plxnd1 G T 6: 115,945,649 (GRCm39) D941E probably benign Het
Prdm13 G T 4: 21,683,894 (GRCm39) Q126K unknown Het
Rbm25 T A 12: 83,728,362 (GRCm39) V837E probably damaging Het
Rcc2 T A 4: 140,444,379 (GRCm39) Y357N probably damaging Het
Siglec1 A T 2: 130,919,884 (GRCm39) N882K probably damaging Het
Sox13 A G 1: 133,311,627 (GRCm39) I535T probably benign Het
Srrm2 T C 17: 24,040,291 (GRCm39) S2408P probably benign Het
Stat3 G A 11: 100,794,556 (GRCm39) T251I probably benign Het
Sulf1 A T 1: 12,929,039 (GRCm39) D102V possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tmem145 G T 7: 25,007,618 (GRCm39) L208F possibly damaging Het
Trim17 A T 11: 58,859,506 (GRCm39) E240V probably damaging Het
Trim43b A T 9: 88,967,451 (GRCm39) I395K possibly damaging Het
Trmt61a C A 12: 111,647,292 (GRCm39) H130N probably damaging Het
Unc5b A C 10: 60,608,138 (GRCm39) L654R probably damaging Het
Vmn1r66 A T 7: 10,008,269 (GRCm39) S255T probably benign Het
Ylpm1 C T 12: 85,087,660 (GRCm39) P1148L probably damaging Het
Zbtb10 T C 3: 9,345,109 (GRCm39) F677S probably benign Het
Zfp493 T A 13: 67,934,717 (GRCm39) C223* 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
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
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'- ACTTGCACCCCTGGTTAGTG -3'
(R):5'- AAGGTTGCTTACTGGATAAGTAGG -3'

Sequencing Primer
(F):5'- GCACCCCTGGTTAGTGGTCTC -3'
(R):5'- AATACAGTTTCCAGCCGGTTG -3'
Posted On 2017-02-28