Incidental Mutation 'R5652:Adcy4'
ID 441517
Institutional Source Beutler Lab
Gene Symbol Adcy4
Ensembl Gene ENSMUSG00000022220
Gene Name adenylate cyclase 4
Synonyms
MMRRC Submission 043298-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5652 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 56006514-56021552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 56010900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 672 (F672L)
Ref Sequence ENSEMBL: ENSMUSP00000130530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000057569] [ENSMUST00000170223]
AlphaFold Q91WF3
Predicted Effect probably benign
Transcript: ENSMUST00000002398
AA Change: F672L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: F672L

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 benign
Transcript: ENSMUST00000170223
AA Change: F672L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: F672L

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
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,856,339 (GRCm39) I334V probably benign Het
Adamts5 C T 16: 85,696,156 (GRCm39) A334T probably damaging Het
Adgrl1 A G 8: 84,656,444 (GRCm39) Y254C probably damaging Het
Adnp2 A G 18: 80,174,065 (GRCm39) S115P probably damaging Het
Aox1 A T 1: 58,134,356 (GRCm39) S1110C probably damaging Het
Arhgap44 G T 11: 64,915,064 (GRCm39) N401K probably damaging Het
Atp23 A T 10: 126,735,494 (GRCm39) N63K possibly damaging Het
Atp8b1 G C 18: 64,664,453 (GRCm39) I1238M probably benign Het
Ccdc38 A T 10: 93,391,448 (GRCm39) probably null Het
Celsr2 T C 3: 108,304,051 (GRCm39) D2364G probably null Het
Celsr3 G A 9: 108,715,671 (GRCm39) D2116N probably benign Het
Cenpf A G 1: 189,389,279 (GRCm39) S1518P probably damaging Het
Clcn3 C A 8: 61,372,387 (GRCm39) V758L possibly damaging Het
Cmklr2 A G 1: 63,222,626 (GRCm39) V203A probably benign Het
Ctsf T C 19: 4,908,505 (GRCm39) L288P probably damaging Het
Cwh43 A G 5: 73,575,484 (GRCm39) T334A probably damaging Het
Cyp3a57 A T 5: 145,286,135 (GRCm39) probably null Het
Ddr1 C T 17: 35,997,400 (GRCm39) A531T probably benign Het
Dennd1a A G 2: 37,691,138 (GRCm39) I260T probably benign Het
Dgkh T C 14: 78,865,201 (GRCm39) H47R probably damaging Het
Dync1h1 G A 12: 110,632,422 (GRCm39) V4514I possibly damaging Het
Dync2h1 A T 9: 7,116,638 (GRCm39) M66K probably benign Het
Fam186a T G 15: 99,843,253 (GRCm39) Y997S possibly damaging Het
Fam8a1 T A 13: 46,827,814 (GRCm39) L334H probably damaging Het
Fat4 C T 3: 39,057,117 (GRCm39) T4271I probably damaging Het
Fdxacb1 T A 9: 50,679,705 (GRCm39) L41Q probably damaging Het
Fgfr2 C T 7: 129,863,593 (GRCm39) V18M probably damaging Het
Gpa33 A C 1: 165,992,714 (GRCm39) probably null Het
Gpr107 A G 2: 31,075,601 (GRCm39) I371V probably benign Het
H1f6 A G 13: 23,880,219 (GRCm39) K124R probably benign Het
Hectd2 T C 19: 36,581,720 (GRCm39) V420A probably damaging Het
Iglc3 A G 16: 18,884,420 (GRCm39) probably benign Het
Igtp A G 11: 58,097,455 (GRCm39) T209A probably benign Het
Itgb7 T A 15: 102,124,638 (GRCm39) N793I possibly damaging Het
Kansl1 G A 11: 104,228,992 (GRCm39) R870C probably damaging Het
Kcnh6 C T 11: 105,899,811 (GRCm39) R27C probably damaging Het
Kif2b T A 11: 91,466,656 (GRCm39) E542D possibly damaging Het
Klhl24 C A 16: 19,938,997 (GRCm39) Y517* probably null Het
Klhl25 A G 7: 75,515,895 (GRCm39) D267G probably benign Het
Krr1 C A 10: 111,813,288 (GRCm39) F195L possibly damaging Het
Lsr C T 7: 30,658,456 (GRCm39) G95D probably damaging Het
Matcap2 A G 9: 22,335,786 (GRCm39) T135A probably benign Het
Med15 A T 16: 17,473,055 (GRCm39) I504N probably damaging Het
Mug1 A G 6: 121,817,140 (GRCm39) R70G probably benign Het
Mypn T A 10: 62,971,580 (GRCm39) Q820L probably damaging Het
Nlrp4f A T 13: 65,330,803 (GRCm39) H863Q probably benign Het
Nudt9 G A 5: 104,207,646 (GRCm39) V213M probably benign Het
Or5ak4 T A 2: 85,161,717 (GRCm39) N175I probably damaging Het
Or5k14 A G 16: 58,692,847 (GRCm39) L222P probably damaging Het
Or7g16 A G 9: 18,726,922 (GRCm39) S223P probably damaging Het
Or8c13 T C 9: 38,092,111 (GRCm39) T3A probably benign Het
Orc2 A G 1: 58,505,231 (GRCm39) F475L probably damaging Het
Oxa1l T A 14: 54,604,289 (GRCm39) L183* probably null Het
Pcdh20 T C 14: 88,704,760 (GRCm39) T847A probably damaging Het
Pcdha6 G A 18: 37,101,889 (GRCm39) probably null Het
Pip5k1a T C 3: 94,974,750 (GRCm39) N376S probably benign Het
Pkd1l1 T C 11: 8,859,889 (GRCm39) E573G probably benign Het
Pkp1 T A 1: 135,810,335 (GRCm39) probably null Het
Pum1 T C 4: 130,491,438 (GRCm39) I643T possibly damaging Het
Rapgef3 A G 15: 97,656,318 (GRCm39) S328P probably benign Het
Raver1 A G 9: 21,001,608 (GRCm39) V75A probably damaging Het
Rbm28 T C 6: 29,135,408 (GRCm39) E511G probably damaging Het
Satb1 T A 17: 52,049,823 (GRCm39) T544S probably damaging Het
Sdcbp2 T C 2: 151,431,135 (GRCm39) V248A probably benign Het
Sema7a A G 9: 57,867,942 (GRCm39) D506G probably damaging Het
Septin8 A G 11: 53,428,044 (GRCm39) E286G probably damaging Het
Sh3pxd2b A G 11: 32,372,812 (GRCm39) I660V probably damaging Het
Stk38l G T 6: 146,674,826 (GRCm39) D364Y possibly damaging Het
Sycp2 T C 2: 178,000,498 (GRCm39) probably null Het
Tbc1d31 T A 15: 57,815,062 (GRCm39) S580T probably damaging Het
Tcerg1l G A 7: 137,881,775 (GRCm39) R305C probably damaging Het
Tek T A 4: 94,743,561 (GRCm39) Y859N probably damaging Het
Tjp1 A T 7: 64,962,191 (GRCm39) probably null Het
Tmem132d A T 5: 127,861,859 (GRCm39) I754N possibly damaging Het
Togaram1 G A 12: 65,063,424 (GRCm39) V1580I probably benign Het
Troap A G 15: 98,980,145 (GRCm39) T442A probably benign Het
Ttn A T 2: 76,712,097 (GRCm39) probably benign Het
Twnk T A 19: 44,995,732 (GRCm39) V55E possibly damaging Het
Uggt1 A T 1: 36,255,234 (GRCm39) Y225* probably null Het
Vmn2r109 A G 17: 20,760,781 (GRCm39) *859Q probably null Het
Vmn2r17 A T 5: 109,577,430 (GRCm39) I494L probably benign Het
Vmn2r88 T C 14: 51,656,029 (GRCm39) V746A probably damaging Het
Yae1d1 A G 13: 18,166,291 (GRCm39) L57P probably damaging Het
Zfp26 G A 9: 20,349,137 (GRCm39) R476* probably null Het
Zmynd8 T A 2: 165,649,618 (GRCm39) Q816L probably damaging Het
Zswim8 A T 14: 20,763,495 (GRCm39) H414L 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
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
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'- GATTATTCCTGGAGGGCAGG -3'
(R):5'- TAGTGACAAGCTGAAGCCCTG -3'

Sequencing Primer
(F):5'- CTGGAGGGCAGGACACACAC -3'
(R):5'- TGAAGCCCTGGCCTTGAACTG -3'
Posted On 2016-11-08