Incidental Mutation 'R9026:Adcy4'
ID 686768
Institutional Source Beutler Lab
Gene Symbol Adcy4
Ensembl Gene ENSMUSG00000022220
Gene Name adenylate cyclase 4
Synonyms
MMRRC Submission 068855-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9026 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 56006514-56021552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 56016426 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 342 (V342L)
Ref Sequence ENSEMBL: ENSMUSP00000002398 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000170223] [ENSMUST00000227031]
AlphaFold Q91WF3
Predicted Effect probably damaging
Transcript: ENSMUST00000002398
AA Change: V342L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: V342L

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: V342L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: V342L

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: ENSMUST00000227031
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (81/81)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik C A 3: 137,770,909 (GRCm39) Q33K possibly damaging Het
Acap2 A G 16: 30,925,906 (GRCm39) L550P probably damaging Het
Acsm3 A T 7: 119,373,845 (GRCm39) S244C probably benign Het
Adam28 T A 14: 68,846,593 (GRCm39) D740V probably benign Het
Adcyap1r1 A G 6: 55,458,107 (GRCm39) T303A probably benign Het
Agr2 T C 12: 36,046,091 (GRCm39) V74A probably benign Het
Akp3 A T 1: 87,054,786 (GRCm39) T374S possibly damaging Het
Ankrd36 A T 11: 5,610,696 (GRCm39) I1181L probably benign Het
Arhgap11a A T 2: 113,664,411 (GRCm39) V624E probably benign Het
Arhgap30 A T 1: 171,228,258 (GRCm39) D112V probably damaging Het
Atp8b4 A G 2: 126,184,883 (GRCm39) F927L probably benign Het
Bend4 C A 5: 67,584,475 (GRCm39) G150C unknown Het
Cd300lg T A 11: 101,944,998 (GRCm39) S403T probably damaging Het
Cep57l1 T A 10: 41,607,086 (GRCm39) Q159L probably damaging Het
Cipc C T 12: 86,999,634 (GRCm39) T57M probably damaging Het
Def8 T C 8: 124,186,391 (GRCm39) C377R probably damaging Het
Dock1 A G 7: 134,720,746 (GRCm39) D1285G probably damaging Het
Efcab10 A G 12: 33,448,398 (GRCm39) D77G probably damaging Het
Eml4 C T 17: 83,764,479 (GRCm39) T663M probably damaging Het
Ercc8 A G 13: 108,320,389 (GRCm39) E325G possibly damaging Het
Ermap C A 4: 119,035,240 (GRCm39) A583S probably damaging Het
F13a1 C T 13: 37,102,506 (GRCm39) G406S probably null Het
Faap20 T A 4: 155,335,426 (GRCm39) C141S probably benign Het
Fam193a A G 5: 34,616,536 (GRCm39) T904A possibly damaging Het
Garin2 T C 12: 78,757,097 (GRCm39) F18S probably benign Het
Gas8 A G 8: 124,260,134 (GRCm39) D455G probably benign Het
Gm21863 T C 12: 20,004,521 (GRCm39) S6P probably damaging Het
Gm4841 A T 18: 60,403,988 (GRCm39) I35N probably damaging Het
Grk4 T A 5: 34,877,084 (GRCm39) C260S probably damaging Het
Huwe1 G A X: 150,716,084 (GRCm39) R4331Q unknown Het
Ighv5-6 A G 12: 113,589,247 (GRCm39) Y78H probably benign Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kl T A 5: 150,876,491 (GRCm39) S104T probably benign Het
Lyve1 C A 7: 110,453,182 (GRCm39) C138F probably damaging Het
Med27 G A 2: 29,399,446 (GRCm39) W92* probably null Het
Mical3 A T 6: 120,986,848 (GRCm39) probably benign Het
Mrgpra4 C A 7: 47,631,208 (GRCm39) R131L possibly damaging Het
Myf5 T C 10: 107,321,308 (GRCm39) N162S probably benign Het
Myh15 G A 16: 49,007,433 (GRCm39) E1835K probably damaging Het
Myo9a T A 9: 59,716,757 (GRCm39) Y486N probably damaging Het
Ncapg T A 5: 45,853,115 (GRCm39) N860K probably benign Het
Nr4a3 T C 4: 48,052,194 (GRCm39) F316S possibly damaging Het
Nsd3 T A 8: 26,172,576 (GRCm39) S778R probably benign Het
Or2r2 A G 6: 42,463,795 (GRCm39) F111L probably damaging Het
Or4c119 A T 2: 88,986,988 (GRCm39) V177E probably benign Het
Or4c31 A G 2: 88,292,196 (GRCm39) I190V probably damaging Het
Or5p6 A G 7: 107,631,286 (GRCm39) F88S probably damaging Het
Or7e173 T C 9: 19,938,344 (GRCm39) N297D Het
Or8b37 T A 9: 37,958,885 (GRCm39) Y122* probably null Het
Or8w1 A T 2: 87,465,369 (GRCm39) C241S probably damaging Het
Or9m2 A G 2: 87,820,568 (GRCm39) T38A probably damaging Het
Pdlim4 C T 11: 53,946,280 (GRCm39) G231S probably benign Het
Pknox2 C T 9: 36,821,044 (GRCm39) V273I possibly damaging Het
Pm20d1 A G 1: 131,739,822 (GRCm39) H390R probably benign Het
Prkg2 A T 5: 99,114,386 (GRCm39) D587E probably benign Het
Prps1l1 T A 12: 35,035,546 (GRCm39) D220E possibly damaging Het
Prss3l A G 6: 41,422,990 (GRCm39) F4L probably benign Het
Ptchd3 T C 11: 121,721,682 (GRCm39) V185A possibly damaging Het
Rag2 A T 2: 101,460,494 (GRCm39) N268I possibly damaging Het
Rarres2 A G 6: 48,549,020 (GRCm39) probably null Het
Rrp12 T C 19: 41,860,223 (GRCm39) H1000R probably benign Het
S100a2 A T 3: 90,498,811 (GRCm39) Y104F unknown Het
Sell A G 1: 163,893,042 (GRCm39) Y86C probably damaging Het
Serpinb6d A T 13: 33,851,656 (GRCm39) T138S possibly damaging Het
Slamf7 T A 1: 171,466,312 (GRCm39) I228F probably benign Het
Slc11a1 G A 1: 74,416,325 (GRCm39) V92M probably damaging Het
Spi1 A G 2: 90,912,862 (GRCm39) N5S unknown Het
Stard9 G T 2: 120,536,283 (GRCm39) D4151Y probably damaging Het
Stmnd1 A G 13: 46,452,983 (GRCm39) T220A probably benign Het
Tacc2 G T 7: 130,225,266 (GRCm39) W650C probably damaging Het
Tmc5 A G 7: 118,241,594 (GRCm39) N429S possibly damaging Het
Tmem201 A C 4: 149,812,627 (GRCm39) L230V probably benign Het
Tmem222 T C 4: 132,997,119 (GRCm39) E94G possibly damaging Het
Trappc4 A G 9: 44,315,655 (GRCm39) F186S probably damaging Het
Trim17 A G 11: 58,862,273 (GRCm39) N435S probably benign Het
Trim68 A T 7: 102,329,447 (GRCm39) L227Q probably damaging Het
Tuba3b T G 6: 145,563,996 (GRCm39) V14G possibly damaging Het
Ubr2 G T 17: 47,245,041 (GRCm39) H1662N probably damaging Het
Vps13c T A 9: 67,861,863 (GRCm39) V2915E probably damaging Het
Vsig10 C T 5: 117,476,323 (GRCm39) T259I probably benign Het
Zfp267 A G 3: 36,219,066 (GRCm39) Y363C 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
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
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'- CATGTTGATATCCACACCGGTG -3'
(R):5'- GTTCTCCAGGAATGCCACAG -3'

Sequencing Primer
(F):5'- TACCCGAAGTTTCCTGAGCAGAG -3'
(R):5'- AGGAATGCCACAGTTGCTC -3'
Posted On 2021-11-19