Incidental Mutation 'IGL03026:Adcy4'
ID 408175
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adcy4
Ensembl Gene ENSMUSG00000022220
Gene Name adenylate cyclase 4
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03026
Quality Score
Status
Chromosome 14
Chromosomal Location 56006514-56021552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56015467 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 481 (Y481C)
Ref Sequence ENSEMBL: ENSMUSP00000130530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000170223]
AlphaFold Q91WF3
Predicted Effect probably damaging
Transcript: ENSMUST00000002398
AA Change: Y481C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: Y481C

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 damaging
Transcript: ENSMUST00000170223
AA Change: Y481C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: Y481C

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: ENSMUST00000228933
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 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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A G 11: 100,410,516 (GRCm39) V154A possibly damaging Het
Adcy5 T C 16: 34,977,412 (GRCm39) V315A probably benign Het
Atf7ip G A 6: 136,582,380 (GRCm39) S1130N possibly damaging Het
Ctss A G 3: 95,446,141 (GRCm39) D87G probably benign Het
Cwf19l2 A T 9: 3,428,777 (GRCm39) K254N probably benign Het
Dnajc10 A G 2: 80,179,647 (GRCm39) D727G probably damaging Het
Dsg3 G A 18: 20,670,029 (GRCm39) probably null Het
Ehmt1 T C 2: 24,742,746 (GRCm39) M478V probably benign Het
Enam A T 5: 88,651,158 (GRCm39) N889I probably benign Het
Exo1 G T 1: 175,736,003 (GRCm39) *148L probably null Het
Fam133b G T 5: 3,609,646 (GRCm39) probably benign Het
Foxj2 G A 6: 122,815,139 (GRCm39) A392T probably benign Het
Gbp4 G T 5: 105,267,866 (GRCm39) A460E possibly damaging Het
H1f5 G A 13: 21,964,117 (GRCm39) probably benign Het
Has3 A T 8: 107,605,242 (GRCm39) I483F probably benign Het
Irak2 T A 6: 113,653,612 (GRCm39) V260E probably damaging Het
Kcnj8 T C 6: 142,512,199 (GRCm39) probably null Het
Lama5 A G 2: 179,837,760 (GRCm39) V936A probably benign Het
Lmo7 C T 14: 102,166,769 (GRCm39) probably benign Het
Morc3 T A 16: 93,659,612 (GRCm39) probably benign Het
Muc6 T C 7: 141,226,414 (GRCm39) probably benign Het
Nkx2-2 T C 2: 147,027,742 (GRCm39) Y66C probably damaging Het
Oaz1 G A 10: 80,664,634 (GRCm39) probably benign Het
Or2y1f A T 11: 49,184,285 (GRCm39) I46F probably damaging Het
Or6c38 G A 10: 128,929,057 (GRCm39) A262V possibly damaging Het
Or6c65 A T 10: 129,603,910 (GRCm39) M182L probably benign Het
Pkd2 A T 5: 104,642,753 (GRCm39) probably benign Het
Plcb4 A G 2: 135,792,349 (GRCm39) probably benign Het
Ralgapa2 C A 2: 146,302,695 (GRCm39) probably benign Het
Rfx7 T C 9: 72,526,967 (GRCm39) S1386P probably damaging Het
Ric1 T G 19: 29,577,233 (GRCm39) W1046G probably benign Het
Rrp12 C A 19: 41,861,436 (GRCm39) R957L probably damaging Het
Scn7a T C 2: 66,506,442 (GRCm39) I1482M probably damaging Het
Sema3b T C 9: 107,479,262 (GRCm39) N236S probably damaging Het
Skint6 T A 4: 112,848,441 (GRCm39) probably null Het
Slfn5 T C 11: 82,847,387 (GRCm39) Y91H probably benign Het
Sptbn2 T A 19: 4,774,261 (GRCm39) probably null Het
Szt2 A G 4: 118,249,046 (GRCm39) L546P probably benign Het
Tas1r3 A G 4: 155,946,300 (GRCm39) probably benign Het
Trim75 A G 8: 65,436,438 (GRCm39) V4A probably benign Het
Usp19 T C 9: 108,370,344 (GRCm39) L56P probably damaging Het
Vmn1r181 T G 7: 23,684,000 (GRCm39) I155S possibly damaging Het
Vmn2r43 G T 7: 8,258,096 (GRCm39) D372E probably benign Het
Vstm2b C A 7: 40,551,945 (GRCm39) S99* probably null Het
Wdr11 A G 7: 129,226,060 (GRCm39) D735G probably damaging Het
Wee2 T A 6: 40,438,915 (GRCm39) M346K probably benign Het
Zap70 A G 1: 36,818,798 (GRCm39) K371R possibly damaging Het
Zfp990 A T 4: 145,263,680 (GRCm39) H226L possibly damaging 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
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
R6318:Adcy4 UTSW 14 56,006,681 (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
Posted On 2016-08-02