Incidental Mutation 'R1624:Adcy4'
ID 174922
Institutional Source Beutler Lab
Gene Symbol Adcy4
Ensembl Gene ENSMUSG00000022220
Gene Name adenylate cyclase 4
Synonyms
MMRRC Submission 039661-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1624 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 56006514-56021552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56019384 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 89 (T89A)
Ref Sequence ENSEMBL: ENSMUSP00000130530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000022830] [ENSMUST00000168716] [ENSMUST00000170223] [ENSMUST00000178399] [ENSMUST00000227031] [ENSMUST00000228476]
AlphaFold Q91WF3
Predicted Effect possibly damaging
Transcript: ENSMUST00000002398
AA Change: T89A

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: T89A

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: ENSMUST00000022830
SMART Domains Protein: ENSMUSP00000022830
Gene: ENSMUSG00000022221

DomainStartEndE-ValueType
Pfam:Pkinase 22 288 2.8e-38 PFAM
Pfam:Pkinase_Tyr 22 288 3e-34 PFAM
Pfam:RHIM 408 458 2.4e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000168716
SMART Domains Protein: ENSMUSP00000126306
Gene: ENSMUSG00000022221

DomainStartEndE-ValueType
Pfam:Pkinase 1 223 1.2e-30 PFAM
Pfam:Pkinase_Tyr 1 224 3.1e-27 PFAM
Pfam:RHIM 344 395 2.4e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000170223
AA Change: T89A

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: T89A

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 probably benign
Transcript: ENSMUST00000178399
SMART Domains Protein: ENSMUSP00000137278
Gene: ENSMUSG00000022221

DomainStartEndE-ValueType
Pfam:Pkinase 1 223 1.2e-30 PFAM
Pfam:Pkinase_Tyr 1 224 3.1e-27 PFAM
Pfam:RHIM 344 395 2.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226361
Predicted Effect probably benign
Transcript: ENSMUST00000227031
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228175
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227072
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228077
Predicted Effect probably benign
Transcript: ENSMUST00000228476
Meta Mutation Damage Score 0.1136 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 95.9%
  • 20x: 91.4%
Validation Efficiency 99% (90/91)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,472,496 (GRCm39) Y68C probably damaging Het
6820408C15Rik A T 2: 152,276,031 (GRCm39) H81L probably damaging Het
Acbd4 A G 11: 102,994,785 (GRCm39) T48A probably damaging Het
Acp3 T A 9: 104,197,200 (GRCm39) E146D probably benign Het
Acsm1 T A 7: 119,251,796 (GRCm39) I307N probably damaging Het
Agl T C 3: 116,580,895 (GRCm39) T356A probably benign Het
Ago1 A G 4: 126,357,534 (GRCm39) I47T probably damaging Het
Akr1c6 T A 13: 4,496,363 (GRCm39) Y75N probably benign Het
Anxa2 T A 9: 69,386,990 (GRCm39) S92T probably benign Het
Arid4b T C 13: 14,358,979 (GRCm39) S585P probably damaging Het
Arl4d T C 11: 101,557,842 (GRCm39) S123P possibly damaging Het
Atad2 A T 15: 57,963,415 (GRCm39) D1067E probably damaging Het
Brap C A 5: 121,820,922 (GRCm39) T403K possibly damaging Het
Brwd1 A T 16: 95,809,344 (GRCm39) N1895K possibly damaging Het
Ccdc187 T C 2: 26,171,087 (GRCm39) T464A probably benign Het
Ccn6 G A 10: 39,029,239 (GRCm39) R230W probably damaging Het
Cdh11 T C 8: 103,391,233 (GRCm39) probably benign Het
Chd9 A T 8: 91,725,163 (GRCm39) Y691F probably benign Het
Clhc1 A T 11: 29,519,287 (GRCm39) I365F possibly damaging Het
Col11a1 A G 3: 113,951,804 (GRCm39) Q1078R probably damaging Het
Creb3 G A 4: 43,566,375 (GRCm39) V294I possibly damaging Het
Cspg4 T C 9: 56,795,754 (GRCm39) I1163T probably damaging Het
Cyp3a57 A C 5: 145,327,225 (GRCm39) probably null Het
Dnah3 A T 7: 119,618,918 (GRCm39) I1661N probably damaging Het
Dpysl4 A C 7: 138,669,469 (GRCm39) D49A probably damaging Het
Efhb T A 17: 53,733,306 (GRCm39) I522F probably damaging Het
Epha4 T C 1: 77,376,329 (GRCm39) T517A probably damaging Het
Fasn A G 11: 120,703,937 (GRCm39) S1466P probably damaging Het
Fgd6 A T 10: 93,973,298 (GRCm39) D1253V probably benign Het
Fjx1 G A 2: 102,281,509 (GRCm39) A142V probably benign Het
Foxb1 T C 9: 69,666,598 (GRCm39) T311A probably benign Het
Fpgs A G 2: 32,581,200 (GRCm39) probably null Het
Gm10024 A G 10: 77,547,606 (GRCm39) probably null Het
Gnat3 A T 5: 18,208,841 (GRCm39) T182S possibly damaging Het
Igsf3 T A 3: 101,362,543 (GRCm39) F875I probably benign Het
Kif13b A G 14: 64,976,068 (GRCm39) E461G probably damaging Het
Kif23 A T 9: 61,832,982 (GRCm39) probably null Het
Kntc1 G A 5: 123,896,540 (GRCm39) R134Q possibly damaging Het
Krt33a A T 11: 99,905,072 (GRCm39) Y145N probably damaging Het
Lama5 A G 2: 179,848,551 (GRCm39) V313A probably benign Het
Lamb1 T C 12: 31,328,651 (GRCm39) probably null Het
Megf6 G T 4: 154,261,578 (GRCm39) V68L probably benign Het
Mtor C T 4: 148,632,133 (GRCm39) L2336F probably damaging Het
Naglu T C 11: 100,967,351 (GRCm39) S434P probably damaging Het
Ncoa7 T A 10: 30,580,655 (GRCm39) H101L possibly damaging Het
Nlrc4 G A 17: 74,752,184 (GRCm39) T733I possibly damaging Het
Nr3c2 A G 8: 77,636,573 (GRCm39) E558G probably damaging Het
Nsun4 A T 4: 115,891,397 (GRCm39) N327K probably benign Het
Or11g27 A G 14: 50,771,100 (GRCm39) Y77C probably damaging Het
Or1x2 T C 11: 50,917,952 (GRCm39) V41A probably damaging Het
Or2m13 T A 16: 19,226,454 (GRCm39) Y104F probably benign Het
Or4f6 T A 2: 111,838,877 (GRCm39) Y218F probably damaging Het
Or6b13 T C 7: 139,781,864 (GRCm39) N273S probably damaging Het
Pdia2 T A 17: 26,415,495 (GRCm39) I441F probably damaging Het
Phyh T C 2: 4,930,494 (GRCm39) S74P probably benign Het
Pigo A G 4: 43,024,661 (GRCm39) L146P probably damaging Het
Plce1 A G 19: 38,713,219 (GRCm39) D1191G probably damaging Het
Plrg1 T C 3: 82,975,301 (GRCm39) probably benign Het
Plrg1 G A 3: 82,977,051 (GRCm39) R364Q probably damaging Het
Polr3b T C 10: 84,515,669 (GRCm39) L614S probably damaging Het
Pramel16 A T 4: 143,676,400 (GRCm39) C235S possibly damaging Het
Prrg4 A G 2: 104,663,027 (GRCm39) V193A probably damaging Het
Prss16 T A 13: 22,187,483 (GRCm39) E47V probably benign Het
Ptpru G A 4: 131,499,861 (GRCm39) T1261I probably damaging Het
Pycard A G 7: 127,591,970 (GRCm39) S124P possibly damaging Het
Riok1 C A 13: 38,221,487 (GRCm39) D17E probably damaging Het
Scin T A 12: 40,177,929 (GRCm39) Y102F probably benign Het
Scmh1 A G 4: 120,386,425 (GRCm39) H655R probably damaging Het
Scyl2 A T 10: 89,476,598 (GRCm39) N842K probably benign Het
Sec23b T A 2: 144,409,049 (GRCm39) M211K probably benign Het
Serpina3i A C 12: 104,234,897 (GRCm39) *409C probably null Het
Sgk2 G A 2: 162,839,779 (GRCm39) R129H probably benign Het
Slc39a13 A G 2: 90,898,871 (GRCm39) I80T probably damaging Het
Smarcad1 A G 6: 65,029,631 (GRCm39) D73G probably benign Het
Spata18 A C 5: 73,826,888 (GRCm39) T276P probably damaging Het
Srgap1 T G 10: 121,691,278 (GRCm39) M319L probably benign Het
Stx7 T A 10: 24,060,903 (GRCm39) V210E probably damaging Het
Tjp2 T A 19: 24,108,776 (GRCm39) H112L probably benign Het
Tuba8 A T 6: 121,197,385 (GRCm39) I16F probably damaging Het
Ube3c G A 5: 29,851,617 (GRCm39) A815T probably benign Het
Vmn2r5 A T 3: 64,417,116 (GRCm39) V14E probably benign Het
Vmn2r79 A T 7: 86,653,247 (GRCm39) probably null Het
Zdbf2 A G 1: 63,343,018 (GRCm39) T466A 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
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
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
Predicted Primers PCR Primer
(F):5'- TGCGCCCAGGGTCTAAATTTGAG -3'
(R):5'- TGCAAATAGCCAAGAGTAGCCCG -3'

Sequencing Primer
(F):5'- CCAGGGTCTAAATTTGAGGTTCAC -3'
(R):5'- cccccaccattccccac -3'
Posted On 2014-04-24