Incidental Mutation 'R0634:Adcy4'
ID 58172
Institutional Source Beutler Lab
Gene Symbol Adcy4
Ensembl Gene ENSMUSG00000022220
Gene Name adenylate cyclase 4
Synonyms
MMRRC Submission 038823-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0634 (G1)
Quality Score 219
Status Validated
Chromosome 14
Chromosomal Location 56006514-56021552 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56019054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 168 (R168G)
Ref Sequence ENSEMBL: ENSMUSP00000130530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002398] [ENSMUST00000022830] [ENSMUST00000168716] [ENSMUST00000170223] [ENSMUST00000178399] [ENSMUST00000227031] [ENSMUST00000228476]
AlphaFold Q91WF3
Predicted Effect probably benign
Transcript: ENSMUST00000002398
AA Change: R168G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000002398
Gene: ENSMUSG00000022220
AA Change: R168G

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 probably benign
Transcript: ENSMUST00000170223
AA Change: R168G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000130530
Gene: ENSMUSG00000022220
AA Change: R168G

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: ENSMUST00000228077
Predicted Effect probably benign
Transcript: ENSMUST00000228476
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228175
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 99.0%
  • 10x: 97.9%
  • 20x: 96.2%
Validation Efficiency 98% (62/63)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,264,491 (GRCm39) I2958V possibly damaging Het
Adam21 C A 12: 81,607,126 (GRCm39) W212L probably benign Het
Adcy2 A C 13: 68,876,064 (GRCm39) H479Q possibly damaging Het
Adrm1b C T 3: 92,336,116 (GRCm39) W125* probably null Het
Atp13a2 T C 4: 140,734,240 (GRCm39) probably benign Het
C1ra G A 6: 124,494,464 (GRCm39) E304K possibly damaging Het
Cc2d2a A C 5: 43,838,723 (GRCm39) probably benign Het
Cenpe T C 3: 134,952,588 (GRCm39) L1426P probably damaging Het
Cntn1 A T 15: 92,212,444 (GRCm39) R869* probably null Het
Creb3l2 A T 6: 37,311,283 (GRCm39) probably benign Het
Crybg2 G A 4: 133,802,615 (GRCm39) probably benign Het
Csmd1 A T 8: 16,276,405 (GRCm39) F800I probably damaging Het
Dock6 G A 9: 21,752,823 (GRCm39) T330I probably damaging Het
Ets2 G A 16: 95,517,200 (GRCm39) E311K possibly damaging Het
Fbxo22 A T 9: 55,122,244 (GRCm39) Q141L probably benign Het
Fer C T 17: 64,342,503 (GRCm39) T223M probably benign Het
Gtf3c1 A T 7: 125,256,649 (GRCm39) probably benign Het
Gtf3c2 G A 5: 31,317,150 (GRCm39) R684* probably null Het
Hs6st3 T A 14: 120,106,474 (GRCm39) L294* probably null Het
Ighg2c T G 12: 113,251,584 (GRCm39) E181A unknown Het
Igkv6-15 A T 6: 70,383,763 (GRCm39) probably benign Het
Irag2 A T 6: 145,120,354 (GRCm39) H523L probably damaging Het
Map2k6 C T 11: 110,385,169 (GRCm39) R178* probably null Het
Meikin T A 11: 54,281,309 (GRCm39) D126E probably benign Het
Mgst1 A T 6: 138,133,329 (GRCm39) T37S probably damaging Het
Mrc2 G A 11: 105,238,518 (GRCm39) V1222M probably benign Het
Myom2 C A 8: 15,169,216 (GRCm39) probably benign Het
Negr1 A G 3: 156,721,903 (GRCm39) K159R possibly damaging Het
Nptx1 T C 11: 119,434,127 (GRCm39) T320A possibly damaging Het
Or12j3 A T 7: 139,953,310 (GRCm39) V71E possibly damaging Het
Or4p21 A T 2: 88,276,961 (GRCm39) M107K probably benign Het
Or5p66 T C 7: 107,885,503 (GRCm39) I277V probably benign Het
Pes1 C T 11: 3,927,794 (GRCm39) probably benign Het
Pes1 T G 11: 3,927,795 (GRCm39) probably benign Het
Pkhd1 A T 1: 20,187,698 (GRCm39) Y3537N probably damaging Het
Poteg G A 8: 27,963,615 (GRCm39) G289R probably benign Het
Pramel29 A G 4: 143,935,910 (GRCm39) probably null Het
Rassf5 T C 1: 131,172,693 (GRCm39) R59G probably damaging Het
Reln A T 5: 22,223,867 (GRCm39) W961R probably damaging Het
Rhot2 G A 17: 26,061,002 (GRCm39) H168Y possibly damaging Het
Ripk3 G T 14: 56,025,848 (GRCm39) probably benign Het
Samm50 A G 15: 84,098,372 (GRCm39) silent Het
Sap30bp T C 11: 115,848,229 (GRCm39) I117T probably damaging Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Sipa1l2 A T 8: 126,149,363 (GRCm39) L1632* probably null Het
Sirt7 T C 11: 120,512,955 (GRCm39) probably benign Het
Smg8 T C 11: 86,976,934 (GRCm39) T216A possibly damaging Het
Sox9 A G 11: 112,675,768 (GRCm39) Y319C probably damaging Het
Sspn G A 6: 145,906,877 (GRCm39) A27T possibly damaging Het
Suco A G 1: 161,666,373 (GRCm39) V509A possibly damaging Het
Svep1 C T 4: 58,070,661 (GRCm39) C2375Y possibly damaging Het
Trbv21 T A 6: 41,179,984 (GRCm39) probably benign Het
Uimc1 C T 13: 55,208,079 (GRCm39) E455K possibly damaging Het
Upk3b A G 5: 136,068,930 (GRCm39) T100A possibly damaging Het
Usp47 A G 7: 111,707,862 (GRCm39) N1303D probably damaging Het
Vav1 A T 17: 57,610,862 (GRCm39) D476V probably benign Het
Vmn1r68 A G 7: 10,261,162 (GRCm39) V312A probably benign Het
Wdr62 A G 7: 29,969,599 (GRCm39) V287A probably damaging Het
Zcchc4 C T 5: 52,940,550 (GRCm39) P40S probably benign Het
Zfp326 T A 5: 106,034,069 (GRCm39) Y26* probably null Het
Zfp592 A G 7: 80,687,819 (GRCm39) H915R probably 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
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
Predicted Primers PCR Primer
(F):5'- TGTACCCGCGAGAGAATCTTGACTG -3'
(R):5'- TTTAGACCCTGGGCGCAACATCAC -3'

Sequencing Primer
(F):5'- GTGCCCTCTTCTGACAAAGGTAG -3'
(R):5'- ATCACGGGCATTCAGCTTC -3'
Posted On 2013-07-11