Incidental Mutation 'R6318:Adcy4'
ID 510313
Institutional Source Beutler Lab
Gene Symbol Adcy4
Ensembl Gene ENSMUSG00000022220
Gene Name adenylate cyclase 4
Synonyms
MMRRC Submission 044473-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6318 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 56006514-56021552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56006681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 1051 (I1051F)
Ref Sequence ENSEMBL: ENSMUSP00000130530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000057569] [ENSMUST00000170223]
AlphaFold Q91WF3
Predicted Effect probably damaging
Transcript: ENSMUST00000002398
AA Change: I1051F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: I1051F

DomainStartEndE-ValueType
low complexity region 28 48 N/A INTRINSIC
low complexity region 66 80 N/A INTRINSIC
low complexity region 145 161 N/A INTRINSIC
CYCc 218 426 1.56e-62 SMART
Pfam:DUF1053 479 581 2.4e-35 PFAM
transmembrane domain 607 629 N/A INTRINSIC
transmembrane domain 661 683 N/A INTRINSIC
transmembrane domain 717 739 N/A INTRINSIC
transmembrane domain 746 768 N/A INTRINSIC
transmembrane domain 792 809 N/A INTRINSIC
CYCc 835 1057 4.46e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057569
SMART Domains Protein: ENSMUSP00000051368
Gene: ENSMUSG00000046908

DomainStartEndE-ValueType
Pfam:7TM_GPCR_Srx 28 196 7.4e-7 PFAM
Pfam:7TM_GPCR_Srsx 31 249 2e-8 PFAM
Pfam:7tm_1 37 285 1.3e-42 PFAM
Pfam:Serpentine_r_xa 54 201 2.8e-4 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000170223
AA Change: I1051F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: I1051F

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
transmembrane domain 61 80 N/A INTRINSIC
transmembrane domain 92 114 N/A INTRINSIC
transmembrane domain 119 138 N/A INTRINSIC
transmembrane domain 145 162 N/A INTRINSIC
transmembrane domain 172 194 N/A INTRINSIC
CYCc 218 426 1.56e-62 SMART
Pfam:DUF1053 479 581 1.6e-24 PFAM
transmembrane domain 607 629 N/A INTRINSIC
transmembrane domain 661 683 N/A INTRINSIC
transmembrane domain 717 739 N/A INTRINSIC
transmembrane domain 746 768 N/A INTRINSIC
transmembrane domain 792 809 N/A INTRINSIC
CYCc 835 1057 4.46e-40 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226575
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228302
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228933
Meta Mutation Damage Score 0.5399 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.1%
  • 20x: 97.3%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). Mouse studies show that adenylate cyclase 4, along with adenylate cyclases 2 and 3, is expressed in olfactory cilia, suggesting that several different adenylate cyclases may couple to olfactory receptors and that there may be multiple receptor-mediated mechanisms for the generation of cAMP signals. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]
PHENOTYPE: Mice homozygous for disruptions of this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700102P08Rik A G 9: 108,270,474 (GRCm39) T13A possibly damaging Het
Abcg4 T C 9: 44,186,645 (GRCm39) T500A probably benign Het
Adgrg6 A T 10: 14,343,241 (GRCm39) N235K probably benign Het
Aldh3a2 A C 11: 61,153,245 (GRCm39) Y160* probably null Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Armt1 T C 10: 4,400,859 (GRCm39) M202T probably benign Het
Brd2 C A 17: 34,331,872 (GRCm39) V349F probably damaging Het
Btnl10 A T 11: 58,817,691 (GRCm39) probably benign Het
Ccdc178 A G 18: 22,253,591 (GRCm39) V216A possibly damaging Het
Ccdc85c A T 12: 108,240,968 (GRCm39) L142Q unknown Het
Cdc27 A T 11: 104,419,520 (GRCm39) S172T probably damaging Het
Ceacam14 T C 7: 17,548,237 (GRCm39) I109T probably damaging Het
Ces5a C T 8: 94,261,211 (GRCm39) G72E probably damaging Het
Cfb A G 17: 35,080,800 (GRCm39) Y66H possibly damaging Het
Clec14a G A 12: 58,315,001 (GRCm39) P207L probably damaging Het
Clec16a G A 16: 10,448,652 (GRCm39) R599H probably damaging Het
Csmd1 A T 8: 15,953,212 (GRCm39) I3423N probably damaging Het
Cyp4a29 C A 4: 115,107,396 (GRCm39) N243K probably benign Het
Ddx59 T C 1: 136,344,610 (GRCm39) F94L probably damaging Het
Dusp3 A C 11: 101,877,697 (GRCm39) V19G probably benign Het
Fat3 T C 9: 15,828,280 (GRCm39) probably benign Het
Fgfr4 T A 13: 55,313,921 (GRCm39) V545E probably damaging Het
Fxn G T 19: 24,257,790 (GRCm39) A47D probably damaging Het
Gdpgp1 A T 7: 79,888,898 (GRCm39) I310F possibly damaging Het
Gm7210 A T 7: 11,328,040 (GRCm39) noncoding transcript Het
Grm7 G T 6: 111,335,836 (GRCm39) C749F probably damaging Het
Hps4 T G 5: 112,494,495 (GRCm39) V26G probably damaging Het
Igf1r A G 7: 67,814,981 (GRCm39) D294G probably benign Het
Immp1l T C 2: 105,761,172 (GRCm39) F27S probably benign Het
Kcnk3 T A 5: 30,779,930 (GRCm39) C327S probably damaging Het
Kif13a T A 13: 46,968,683 (GRCm39) probably null Het
Krtap5-4 T C 7: 141,857,827 (GRCm39) S166P unknown Het
Lyst G A 13: 13,917,896 (GRCm39) D3319N possibly damaging Het
Malrd1 T G 2: 16,047,078 (GRCm39) S1735A unknown Het
Myh4 A G 11: 67,134,268 (GRCm39) T308A probably benign Het
Myh8 A T 11: 67,190,167 (GRCm39) Q1269L probably benign Het
Myo15b G A 11: 115,781,657 (GRCm39) V1367I probably damaging Het
Nae1 T C 8: 105,250,269 (GRCm39) D208G probably benign Het
Nelfe T A 17: 35,073,432 (GRCm39) V296D probably damaging Het
Nkapd1 T C 9: 50,518,761 (GRCm39) R284G probably benign Het
Npepps A T 11: 97,109,374 (GRCm39) V734E probably damaging Het
Ogdh A G 11: 6,299,390 (GRCm39) N752S probably damaging Het
Or11i1 T C 3: 106,729,503 (GRCm39) D124G probably damaging Het
Or3a1b A T 11: 74,012,547 (GRCm39) Q144L possibly damaging Het
Or5t9 A G 2: 86,659,998 (GRCm39) I301V possibly damaging Het
Or8b1 T C 9: 38,399,673 (GRCm39) M116T probably benign Het
Otof C A 5: 30,571,888 (GRCm39) G171V probably damaging Het
Phtf2 A T 5: 21,006,939 (GRCm39) V208D probably damaging Het
Pkn1 T A 8: 84,410,220 (GRCm39) T340S probably damaging Het
Plcd4 C T 1: 74,602,753 (GRCm39) L668F possibly damaging Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prss50 A T 9: 110,690,367 (GRCm39) D170V probably damaging Het
Ptprg T C 14: 12,237,118 (GRCm38) V604A probably damaging Het
Rab33b T C 3: 51,400,826 (GRCm39) V100A probably damaging Het
Rbm26 T A 14: 105,368,971 (GRCm39) D736V probably damaging Het
Rela C A 19: 5,696,992 (GRCm39) P400T probably benign Het
Rpusd4 T C 9: 35,179,334 (GRCm39) L50P probably damaging Het
Scn10a A C 9: 119,456,181 (GRCm39) Y1214D probably damaging Het
Sema3c A G 5: 17,877,430 (GRCm39) E179G probably damaging Het
Skint5 T A 4: 113,374,330 (GRCm39) D1253V unknown Het
Sp4 G T 12: 118,201,913 (GRCm39) P771H probably damaging Het
Sphkap T A 1: 83,256,099 (GRCm39) Y263F probably damaging Het
Ssbp1 G A 6: 40,453,687 (GRCm39) V78I probably benign Het
St3gal6 A G 16: 58,306,769 (GRCm39) I87T probably benign Het
Tango6 T A 8: 107,545,129 (GRCm39) D997E probably benign Het
Tpr C T 1: 150,321,639 (GRCm39) P2265S possibly damaging Het
Ttc7b A T 12: 100,291,936 (GRCm39) F212Y probably damaging Het
Ubc A G 5: 125,465,324 (GRCm39) M1T probably null Het
Vill G C 9: 118,892,716 (GRCm39) Q376H probably benign Het
Yes1 T C 5: 32,809,030 (GRCm39) I132T possibly damaging Het
Ythdc2 A G 18: 44,993,444 (GRCm39) T830A probably benign Het
Zbtb41 T A 1: 139,358,044 (GRCm39) F451I possibly damaging Het
Zfp995 C T 17: 22,099,493 (GRCm39) C247Y probably benign Het
Other mutations in Adcy4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Adcy4 APN 14 56,011,120 (GRCm39) splice site probably null
IGL02406:Adcy4 APN 14 56,007,504 (GRCm39) missense possibly damaging 0.45
IGL02503:Adcy4 APN 14 56,008,962 (GRCm39) missense probably damaging 1.00
IGL02543:Adcy4 APN 14 56,006,627 (GRCm39) missense probably benign
IGL02616:Adcy4 APN 14 56,020,971 (GRCm39) splice site probably null
IGL03002:Adcy4 APN 14 56,011,013 (GRCm39) missense probably benign 0.31
IGL03026:Adcy4 APN 14 56,015,467 (GRCm39) missense probably damaging 1.00
IGL03190:Adcy4 APN 14 56,016,510 (GRCm39) missense probably damaging 1.00
IGL03247:Adcy4 APN 14 56,007,553 (GRCm39) missense probably damaging 1.00
stressed UTSW 14 56,016,556 (GRCm39) splice site probably null
IGL03098:Adcy4 UTSW 14 56,019,038 (GRCm39) missense probably null 0.82
R0098:Adcy4 UTSW 14 56,007,284 (GRCm39) missense possibly damaging 0.78
R0102:Adcy4 UTSW 14 56,008,990 (GRCm39) missense probably benign 0.29
R0396:Adcy4 UTSW 14 56,009,745 (GRCm39) missense probably benign 0.00
R0482:Adcy4 UTSW 14 56,012,029 (GRCm39) critical splice acceptor site probably null
R0634:Adcy4 UTSW 14 56,019,054 (GRCm39) missense probably benign
R0691:Adcy4 UTSW 14 56,010,104 (GRCm39) splice site probably benign
R0704:Adcy4 UTSW 14 56,010,213 (GRCm39) missense probably benign
R0815:Adcy4 UTSW 14 56,021,056 (GRCm39) missense probably damaging 1.00
R0863:Adcy4 UTSW 14 56,021,056 (GRCm39) missense probably damaging 1.00
R1446:Adcy4 UTSW 14 56,007,480 (GRCm39) critical splice donor site probably null
R1462:Adcy4 UTSW 14 56,015,765 (GRCm39) missense possibly damaging 0.78
R1462:Adcy4 UTSW 14 56,015,765 (GRCm39) missense possibly damaging 0.78
R1463:Adcy4 UTSW 14 56,016,396 (GRCm39) missense probably damaging 1.00
R1624:Adcy4 UTSW 14 56,019,384 (GRCm39) missense possibly damaging 0.68
R1799:Adcy4 UTSW 14 56,008,929 (GRCm39) missense probably benign 0.01
R1878:Adcy4 UTSW 14 56,007,362 (GRCm39) missense probably damaging 0.96
R2007:Adcy4 UTSW 14 56,015,770 (GRCm39) missense possibly damaging 0.45
R2156:Adcy4 UTSW 14 56,006,627 (GRCm39) missense probably benign 0.09
R2425:Adcy4 UTSW 14 56,015,474 (GRCm39) missense probably damaging 0.99
R2517:Adcy4 UTSW 14 56,019,403 (GRCm39) missense probably damaging 1.00
R3882:Adcy4 UTSW 14 56,012,003 (GRCm39) missense probably benign 0.27
R4021:Adcy4 UTSW 14 56,012,635 (GRCm39) splice site probably null
R4022:Adcy4 UTSW 14 56,012,635 (GRCm39) splice site probably null
R4411:Adcy4 UTSW 14 56,006,900 (GRCm39) missense probably damaging 1.00
R4530:Adcy4 UTSW 14 56,016,485 (GRCm39) missense probably damaging 1.00
R4560:Adcy4 UTSW 14 56,016,407 (GRCm39) splice site probably null
R4704:Adcy4 UTSW 14 56,012,482 (GRCm39) missense possibly damaging 0.91
R4780:Adcy4 UTSW 14 56,012,493 (GRCm39) missense probably benign 0.07
R4860:Adcy4 UTSW 14 56,019,384 (GRCm39) missense possibly damaging 0.68
R4860:Adcy4 UTSW 14 56,019,384 (GRCm39) missense possibly damaging 0.68
R4868:Adcy4 UTSW 14 56,011,179 (GRCm39) missense probably benign
R4890:Adcy4 UTSW 14 56,016,486 (GRCm39) missense probably damaging 1.00
R4920:Adcy4 UTSW 14 56,016,486 (GRCm39) missense probably damaging 1.00
R4948:Adcy4 UTSW 14 56,016,486 (GRCm39) missense probably damaging 1.00
R4952:Adcy4 UTSW 14 56,016,486 (GRCm39) missense probably damaging 1.00
R4953:Adcy4 UTSW 14 56,016,486 (GRCm39) missense probably damaging 1.00
R4987:Adcy4 UTSW 14 56,010,934 (GRCm39) missense probably benign 0.01
R4991:Adcy4 UTSW 14 56,010,922 (GRCm39) missense probably benign 0.03
R5080:Adcy4 UTSW 14 56,009,832 (GRCm39) missense probably damaging 0.98
R5620:Adcy4 UTSW 14 56,009,824 (GRCm39) nonsense probably null
R5652:Adcy4 UTSW 14 56,010,900 (GRCm39) missense probably benign
R5726:Adcy4 UTSW 14 56,021,118 (GRCm39) missense probably damaging 1.00
R5910:Adcy4 UTSW 14 56,016,470 (GRCm39) missense probably damaging 1.00
R5958:Adcy4 UTSW 14 56,016,556 (GRCm39) splice site probably null
R6280:Adcy4 UTSW 14 56,016,500 (GRCm39) missense probably damaging 1.00
R6598:Adcy4 UTSW 14 56,007,502 (GRCm39) missense probably benign 0.03
R6947:Adcy4 UTSW 14 56,015,848 (GRCm39) missense possibly damaging 0.92
R7012:Adcy4 UTSW 14 56,017,376 (GRCm39) missense possibly damaging 0.95
R7147:Adcy4 UTSW 14 56,017,182 (GRCm39) missense probably damaging 1.00
R7386:Adcy4 UTSW 14 56,015,784 (GRCm39) missense probably damaging 1.00
R7414:Adcy4 UTSW 14 56,019,090 (GRCm39) missense probably benign 0.15
R7431:Adcy4 UTSW 14 56,010,129 (GRCm39) missense probably benign 0.01
R7490:Adcy4 UTSW 14 56,007,890 (GRCm39) missense possibly damaging 0.66
R7552:Adcy4 UTSW 14 56,010,922 (GRCm39) missense probably benign 0.00
R7672:Adcy4 UTSW 14 56,018,362 (GRCm39) missense probably benign 0.14
R8003:Adcy4 UTSW 14 56,019,092 (GRCm39) missense probably benign 0.00
R8042:Adcy4 UTSW 14 56,012,696 (GRCm39) missense probably benign 0.01
R8100:Adcy4 UTSW 14 56,009,722 (GRCm39) nonsense probably null
R8343:Adcy4 UTSW 14 56,012,697 (GRCm39) missense probably benign 0.02
R8801:Adcy4 UTSW 14 56,009,452 (GRCm39) missense probably benign 0.05
R8811:Adcy4 UTSW 14 56,010,221 (GRCm39) missense probably benign
R8993:Adcy4 UTSW 14 56,016,156 (GRCm39) missense probably damaging 1.00
R8993:Adcy4 UTSW 14 56,008,835 (GRCm39) missense probably null 1.00
R9026:Adcy4 UTSW 14 56,016,426 (GRCm39) missense probably damaging 1.00
X0025:Adcy4 UTSW 14 56,007,848 (GRCm39) missense probably damaging 1.00
Z1088:Adcy4 UTSW 14 56,018,413 (GRCm39) missense probably benign 0.06
Predicted Primers PCR Primer
(F):5'- CAGTATCTGCCATCTTTCAGAAG -3'
(R):5'- CGTTCTCGGCAAGATCCAAG -3'

Sequencing Primer
(F):5'- GTATCTGCCATCTTTCAGAAGCAAAC -3'
(R):5'- TCTCGGCAAGATCCAAGTGAGAATC -3'
Posted On 2018-04-02