Mutagenetix > Incidental Mutation

Incidental Mutation 'R1473:Adcy6'

165954

Institutional Source

Beutler Lab

Gene Symbol

Adcy6

Ensembl Gene

ENSMUSG00000022994

Gene Name

adenylate cyclase 6

Synonyms

MMRRC Submission

039526-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98589973-98610076 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98592743 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 1102 (Y1102F)

Ref Sequence

ENSEMBL: ENSMUSP00000154421 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023728] [ENSMUST00000096224] [ENSMUST00000228566] [ENSMUST00000228903]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000023728

Predicted Effect

probably damaging
Transcript: ENSMUST00000096224
AA Change: Y1104F

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994
AA Change: Y1104F

Domain	Start	End	E-Value	Type
low complexity region	150	166	N/A	INTRINSIC
low complexity region	169	177	N/A	INTRINSIC
low complexity region	212	228	N/A	INTRINSIC
CYCc	331	532	2.95e-63	SMART
Pfam:DUF1053	580	669	3.5e-18	PFAM
transmembrane domain	701	723	N/A	INTRINSIC
transmembrane domain	744	763	N/A	INTRINSIC
transmembrane domain	815	834	N/A	INTRINSIC
transmembrane domain	839	861	N/A	INTRINSIC
Blast:CYCc	885	929	5e-20	BLAST
CYCc	939	1147	4.81e-45	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187215

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226236

Predicted Effect

probably damaging
Transcript: ENSMUST00000228566
AA Change: Y1102F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228596

Predicted Effect

probably benign
Transcript: ENSMUST00000228903

Meta Mutation Damage Score

0.4569

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

98% (88/90)

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 adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]
PHENOTYPE: Mice homozygous for disruption of this gene show a reduction in calcium uptake and transport in cardiomyocytes as well as mild functional abnormalities in the left ventricle. Mice homozygous for a conditional allele activated in collecting ducts exhibit decreased urine osmilality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,068,236	D342G	probably damaging	Het
Acad8	T	C	9: 26,979,041	T293A	probably benign	Het
Adamts13	C	A	2: 26,981,753	Y310*	probably null	Het
Ahctf1	G	A	1: 179,776,108	T791M	probably benign	Het
Ahctf1	A	G	1: 179,799,279	V18A	probably damaging	Het
Ampd3	T	G	7: 110,804,935	S564R	probably damaging	Het
Anapc1	A	T	2: 128,617,697	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,701,609	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,539,264	Y49H	probably damaging	Het
Ccdc24	G	T	4: 117,869,904		probably benign	Het
Clcn6	A	C	4: 148,024,156	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,982,908		probably benign	Het
Crip2	T	A	12: 113,143,500	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,314,763	N455T	probably benign	Het
Dhcr7	A	G	7: 143,841,368	D113G	probably damaging	Het
Dhcr7	T	C	7: 143,847,068	Y323H	probably damaging	Het
Dnah7a	A	C	1: 53,496,014	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,397,244	T55A	probably benign	Het
Drosha	G	A	15: 12,912,520	E1075K	probably benign	Het
Duox2	A	G	2: 122,287,121	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,694,058	A327V	possibly damaging	Het
Espl1	C	T	15: 102,320,443	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,858,207	K22R	possibly damaging	Het
Fzd6	T	C	15: 39,030,963	F175L	probably damaging	Het
Gm4737	T	A	16: 46,154,819	E65V	probably damaging	Het
Gm5155	A	G	7: 17,905,091		noncoding transcript	Het
Gm6526	A	G	14: 43,748,846	I76M	probably damaging	Het
Gm6583	T	C	5: 112,354,549	T430A	probably benign	Het
Gm9881	A	T	16: 91,170,735	F34I	unknown	Het
Gm9892	T	C	8: 52,196,614	D148G	possibly damaging	Het
Grb10	C	T	11: 11,934,249	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hdac4	T	C	1: 92,029,968	H108R	possibly damaging	Het
Hist2h2bb	G	T	3: 96,270,072	L107F	probably damaging	Het
Hmcn1	G	A	1: 150,772,552	T661I	probably benign	Het
Icam1	T	A	9: 21,027,876	I515N	probably damaging	Het
Ifi208	A	G	1: 173,695,654	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,318,767	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,734,011	M1102V	probably benign	Het
Itgb4	A	T	11: 115,984,047	N410I	probably benign	Het
Jup	T	C	11: 100,379,601	H360R	possibly damaging	Het
Kif20b	T	A	19: 34,974,496	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,712,046		probably null	Het
Lrig1	T	A	6: 94,607,313	T917S	probably benign	Het
Mast2	A	G	4: 116,311,955	S814P	probably damaging	Het
Mast4	T	C	13: 102,772,519	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,019,533	M176T	probably benign	Het
Mettl22	A	G	16: 8,473,961	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,328,688	T131A	probably benign	Het
Nde1	T	G	16: 14,185,864	F71V	probably benign	Het
Nxn	C	T	11: 76,263,187	G274D	possibly damaging	Het
Olfr1230	A	T	2: 89,296,906	Y121*	probably null	Het
Olfr183	A	T	16: 58,999,912	T76S	probably benign	Het
Olfr414	T	A	1: 174,430,643	W72R	probably damaging	Het
Olfr427	G	T	1: 174,099,749	C97F	probably damaging	Het
Osbp2	T	C	11: 3,717,175		probably null	Het
Otud7a	C	A	7: 63,754,629		probably benign	Het
Phf3	G	A	1: 30,805,940	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,522,983	D1635E	probably benign	Het
Plpp1	A	G	13: 112,859,664	H171R	probably damaging	Het
Pofut1	A	G	2: 153,261,246	M172V	probably damaging	Het
Prmt5	A	G	14: 54,508,915	F580L	probably damaging	Het
Rab11fip3	A	T	17: 25,991,322	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,818,665	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584	N399S	probably benign	Het
Sbk1	A	G	7: 126,292,252	E286G	possibly damaging	Het
Scin	T	A	12: 40,077,502	T430S	probably benign	Het
Sgsm1	T	A	5: 113,263,257	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,341,111	R37H	probably damaging	Het
Smchd1	A	T	17: 71,361,837		probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Soga1	A	T	2: 157,020,448	Y1520*	probably null	Het
Stk32c	C	T	7: 139,125,179	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,564,739	M82T	probably benign	Het
Tat	T	C	8: 109,996,918	L346P	probably damaging	Het
Tenm3	C	A	8: 48,310,625	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,622	S1203N	probably benign	Het
Tmem191c	G	A	16: 17,277,962		probably null	Het
Tmem268	A	G	4: 63,580,338	T239A	probably damaging	Het
Tmem82	A	C	4: 141,616,278	L227R	possibly damaging	Het
Ttn	A	T	2: 76,727,032	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,721,574		probably benign	Het
Ubqln4	A	G	3: 88,565,845	I536V	probably benign	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn2r102	A	T	17: 19,694,581	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,538,158	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,961,410	C25S	probably damaging	Het
Wdr38	A	G	2: 39,000,979	T261A	probably benign	Het
Zfp653	T	C	9: 22,058,220	E250G	possibly damaging	Het

Other mutations in Adcy6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Adcy6	APN	15	98598976	missense	probably damaging	1.00
IGL01132:Adcy6	APN	15	98597851	missense	probably benign	0.14
IGL01642:Adcy6	APN	15	98594509	missense	possibly damaging	0.88
IGL01647:Adcy6	APN	15	98600275	missense	probably damaging	1.00
IGL01788:Adcy6	APN	15	98596519	nonsense	probably null
IGL02122:Adcy6	APN	15	98598882	missense	possibly damaging	0.66
IGL02210:Adcy6	APN	15	98594971	missense	possibly damaging	0.63
IGL02249:Adcy6	APN	15	98599914	missense	probably damaging	1.00
IGL02404:Adcy6	APN	15	98596938	missense	probably benign
IGL02691:Adcy6	APN	15	98604304	missense	probably damaging	1.00
PIT4515001:Adcy6	UTSW	15	98595146	missense	probably benign	0.04
R0178:Adcy6	UTSW	15	98604215	missense	probably benign	0.00
R0497:Adcy6	UTSW	15	98597725	critical splice donor site	probably null
R0739:Adcy6	UTSW	15	98598379	missense	probably benign	0.00
R1454:Adcy6	UTSW	15	98604728	missense	probably damaging	1.00
R1536:Adcy6	UTSW	15	98600007	missense	probably damaging	1.00
R1927:Adcy6	UTSW	15	98598498	splice site	probably null
R2178:Adcy6	UTSW	15	98594355	missense	probably damaging	1.00
R2294:Adcy6	UTSW	15	98597441	missense	possibly damaging	0.48
R2356:Adcy6	UTSW	15	98597016	splice site	probably null
R2898:Adcy6	UTSW	15	98593488	missense	probably damaging	1.00
R3001:Adcy6	UTSW	15	98596660	missense	probably benign	0.01
R3002:Adcy6	UTSW	15	98596660	missense	probably benign	0.01
R3794:Adcy6	UTSW	15	98598943	missense	probably damaging	1.00
R3884:Adcy6	UTSW	15	98597174	missense	probably benign	0.06
R4348:Adcy6	UTSW	15	98604160	missense	probably benign	0.44
R4351:Adcy6	UTSW	15	98604160	missense	probably benign	0.44
R4542:Adcy6	UTSW	15	98598988	missense	possibly damaging	0.70
R4548:Adcy6	UTSW	15	98598659	missense	probably damaging	1.00
R5693:Adcy6	UTSW	15	98603989	missense	probably damaging	1.00
R5707:Adcy6	UTSW	15	98598741	missense	probably damaging	1.00
R5994:Adcy6	UTSW	15	98593664	missense	probably damaging	1.00
R5998:Adcy6	UTSW	15	98594354	nonsense	probably null
R6142:Adcy6	UTSW	15	98598422	missense	probably benign
R6242:Adcy6	UTSW	15	98604015	nonsense	probably null
R6305:Adcy6	UTSW	15	98598645	missense	probably benign	0.13
R6751:Adcy6	UTSW	15	98596205	missense	probably benign
R7130:Adcy6	UTSW	15	98597229	missense	probably benign
R7335:Adcy6	UTSW	15	98603876	missense	probably benign	0.29
R7643:Adcy6	UTSW	15	98593568	missense	probably benign
R7658:Adcy6	UTSW	15	98596067	missense	probably benign	0.00
R7748:Adcy6	UTSW	15	98604556	missense	probably benign	0.01
R7761:Adcy6	UTSW	15	98600014	missense	probably damaging	1.00
R7774:Adcy6	UTSW	15	98596533	missense	probably benign
R7954:Adcy6	UTSW	15	98596892	critical splice donor site	probably null
R8259:Adcy6	UTSW	15	98601038	missense	probably damaging	0.97
R8260:Adcy6	UTSW	15	98601038	missense	probably damaging	0.97
R8520:Adcy6	UTSW	15	98604160	missense	probably benign
R8790:Adcy6	UTSW	15	98599000	missense	probably damaging	1.00
R8834:Adcy6	UTSW	15	98601041	missense	possibly damaging	0.94
R8951:Adcy6	UTSW	15	98604259	missense	possibly damaging	0.95
R9297:Adcy6	UTSW	15	98593585	missense	possibly damaging	0.91
R9318:Adcy6	UTSW	15	98593585	missense	possibly damaging	0.91
X0020:Adcy6	UTSW	15	98598735	missense	probably damaging	0.99
X0021:Adcy6	UTSW	15	98603942	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGCTGCACTCTGCTAACTGCTG -3'
(R):5'- ATGCCGAAGGAATCATTGTCCCC -3'

Sequencing Primer
(F):5'- ACCTGGTATAGGTCCGTAGTCAC -3'
(R):5'- CCCCTTTGATATTTTTTTCCTTTGG -3'

Posted On

2014-03-28