Mutagenetix > Incidental Mutation

Incidental Mutation 'R1473:Adcy6'

165954

Institutional Source

Beutler Lab

Gene Symbol

Adcy6

Ensembl Gene

ENSMUSG00000022994

Gene Name

adenylate cyclase 6

Synonyms

AC6

MMRRC Submission

039526-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

98487854-98507957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98490624 bp (GRCm39)

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: 57,056,668 (GRCm39)	D342G	probably damaging	Het
Acad8	T	C	9: 26,890,337 (GRCm39)	T293A	probably benign	Het
Adamts13	C	A	2: 26,871,765 (GRCm39)	Y310*	probably null	Het
Ahctf1	G	A	1: 179,603,673 (GRCm39)	T791M	probably benign	Het
Ahctf1	A	G	1: 179,626,844 (GRCm39)	V18A	probably damaging	Het
Ahcyl	T	A	16: 45,975,182 (GRCm39)	E65V	probably damaging	Het
Ampd3	T	G	7: 110,404,142 (GRCm39)	S564R	probably damaging	Het
Anapc1	A	T	2: 128,459,617 (GRCm39)	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,629,331 (GRCm39)	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,516,198 (GRCm39)	Y49H	probably damaging	Het
Ccdc121rt3	T	C	5: 112,502,415 (GRCm39)	T430A	probably benign	Het
Ccdc24	G	T	4: 117,727,101 (GRCm39)		probably benign	Het
Ceacam23	A	G	7: 17,639,016 (GRCm39)		noncoding transcript	Het
Clcn6	A	C	4: 148,108,613 (GRCm39)	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,880,789 (GRCm39)		probably benign	Het
Crip2	T	A	12: 113,107,120 (GRCm39)	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,014,188 (GRCm39)	N455T	probably benign	Het
Dhcr7	T	C	7: 143,400,805 (GRCm39)	Y323H	probably damaging	Het
Dhcr7	A	G	7: 143,395,105 (GRCm39)	D113G	probably damaging	Het
Dnah7a	A	C	1: 53,535,173 (GRCm39)	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,233,023 (GRCm39)	T55A	probably benign	Het
Drosha	G	A	15: 12,912,606 (GRCm39)	E1075K	probably benign	Het
Duox2	A	G	2: 122,117,602 (GRCm39)	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,421,369 (GRCm39)	A327V	possibly damaging	Het
Espl1	C	T	15: 102,228,878 (GRCm39)	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,748,219 (GRCm39)	K22R	possibly damaging	Het
Fzd6	T	C	15: 38,894,358 (GRCm39)	F175L	probably damaging	Het
Gm6526	A	G	14: 43,986,303 (GRCm39)	I76M	probably damaging	Het
Gm9881	A	T	16: 90,967,623 (GRCm39)	F34I	unknown	Het
Gm9892	T	C	8: 52,649,649 (GRCm39)	D148G	possibly damaging	Het
Grb10	C	T	11: 11,884,249 (GRCm39)	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
H2bc18	G	T	3: 96,177,388 (GRCm39)	L107F	probably damaging	Het
Hdac4	T	C	1: 91,957,690 (GRCm39)	H108R	possibly damaging	Het
Hmcn1	G	A	1: 150,648,303 (GRCm39)	T661I	probably benign	Het
Icam1	T	A	9: 20,939,172 (GRCm39)	I515N	probably damaging	Het
Ifi208	A	G	1: 173,523,220 (GRCm39)	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,226,188 (GRCm39)	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,383,759 (GRCm39)	M1102V	probably benign	Het
Itgb4	A	T	11: 115,874,873 (GRCm39)	N410I	probably benign	Het
Jup	T	C	11: 100,270,427 (GRCm39)	H360R	possibly damaging	Het
Kif20b	T	A	19: 34,951,896 (GRCm39)	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,361,794 (GRCm39)		probably null	Het
Lrig1	T	A	6: 94,584,294 (GRCm39)	T917S	probably benign	Het
Mast2	A	G	4: 116,169,152 (GRCm39)	S814P	probably damaging	Het
Mast4	T	C	13: 102,909,027 (GRCm39)	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,256,990 (GRCm39)	M176T	probably benign	Het
Mettl22	A	G	16: 8,291,825 (GRCm39)	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,314,443 (GRCm39)	T131A	probably benign	Het
Mtcl2	A	T	2: 156,862,368 (GRCm39)	Y1520*	probably null	Het
Nde1	T	G	16: 14,003,728 (GRCm39)	F71V	probably benign	Het
Nxn	C	T	11: 76,154,013 (GRCm39)	G274D	possibly damaging	Het
Or4c123	A	T	2: 89,127,250 (GRCm39)	Y121*	probably null	Het
Or5h17	A	T	16: 58,820,275 (GRCm39)	T76S	probably benign	Het
Or6k14	G	T	1: 173,927,315 (GRCm39)	C97F	probably damaging	Het
Or6p1	T	A	1: 174,258,209 (GRCm39)	W72R	probably damaging	Het
Osbp2	T	C	11: 3,667,175 (GRCm39)		probably null	Het
Otud7a	C	A	7: 63,404,377 (GRCm39)		probably benign	Het
Phf3	G	A	1: 30,845,021 (GRCm39)	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,593,207 (GRCm39)	D1635E	probably benign	Het
Plpp1	A	G	13: 112,996,198 (GRCm39)	H171R	probably damaging	Het
Pofut1	A	G	2: 153,103,166 (GRCm39)	M172V	probably damaging	Het
Prmt5	A	G	14: 54,746,372 (GRCm39)	F580L	probably damaging	Het
Rab11fip3	A	T	17: 26,210,296 (GRCm39)	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,639,028 (GRCm39)	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584 (GRCm39)	N399S	probably benign	Het
Sbk1	A	G	7: 125,891,424 (GRCm39)	E286G	possibly damaging	Het
Scin	T	A	12: 40,127,501 (GRCm39)	T430S	probably benign	Het
Sgsm1	T	A	5: 113,411,123 (GRCm39)	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,387,885 (GRCm39)	R37H	probably damaging	Het
Smchd1	A	T	17: 71,668,832 (GRCm39)		probably benign	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Stk32c	C	T	7: 138,705,095 (GRCm39)	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,712,598 (GRCm39)	M82T	probably benign	Het
Tat	T	C	8: 110,723,550 (GRCm39)	L346P	probably damaging	Het
Tenm3	C	A	8: 48,763,660 (GRCm39)	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,621 (GRCm39)	S1203N	probably benign	Het
Tmem191	G	A	16: 17,095,826 (GRCm39)		probably null	Het
Tmem268	A	G	4: 63,498,575 (GRCm39)	T239A	probably damaging	Het
Tmem82	A	C	4: 141,343,589 (GRCm39)	L227R	possibly damaging	Het
Ttn	A	T	2: 76,557,376 (GRCm39)	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,869,387 (GRCm39)		probably benign	Het
Ubqln4	A	G	3: 88,473,152 (GRCm39)	I536V	probably benign	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Vmn2r102	A	T	17: 19,914,843 (GRCm39)	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,445,579 (GRCm39)	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,610,618 (GRCm39)	C25S	probably damaging	Het
Wdr38	A	G	2: 38,890,991 (GRCm39)	T261A	probably benign	Het
Zfp653	T	C	9: 21,969,516 (GRCm39)	E250G	possibly damaging	Het

Other mutations in Adcy6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Adcy6	APN	15	98,496,857 (GRCm39)	missense	probably damaging	1.00
IGL01132:Adcy6	APN	15	98,495,732 (GRCm39)	missense	probably benign	0.14
IGL01642:Adcy6	APN	15	98,492,390 (GRCm39)	missense	possibly damaging	0.88
IGL01647:Adcy6	APN	15	98,498,156 (GRCm39)	missense	probably damaging	1.00
IGL01788:Adcy6	APN	15	98,494,400 (GRCm39)	nonsense	probably null
IGL02122:Adcy6	APN	15	98,496,763 (GRCm39)	missense	possibly damaging	0.66
IGL02210:Adcy6	APN	15	98,492,852 (GRCm39)	missense	possibly damaging	0.63
IGL02249:Adcy6	APN	15	98,497,795 (GRCm39)	missense	probably damaging	1.00
IGL02404:Adcy6	APN	15	98,494,819 (GRCm39)	missense	probably benign
IGL02691:Adcy6	APN	15	98,502,185 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Adcy6	UTSW	15	98,493,027 (GRCm39)	missense	probably benign	0.04
R0178:Adcy6	UTSW	15	98,502,096 (GRCm39)	missense	probably benign	0.00
R0497:Adcy6	UTSW	15	98,495,606 (GRCm39)	critical splice donor site	probably null
R0739:Adcy6	UTSW	15	98,496,260 (GRCm39)	missense	probably benign	0.00
R1454:Adcy6	UTSW	15	98,502,609 (GRCm39)	missense	probably damaging	1.00
R1536:Adcy6	UTSW	15	98,497,888 (GRCm39)	missense	probably damaging	1.00
R1927:Adcy6	UTSW	15	98,496,379 (GRCm39)	splice site	probably null
R2178:Adcy6	UTSW	15	98,492,236 (GRCm39)	missense	probably damaging	1.00
R2294:Adcy6	UTSW	15	98,495,322 (GRCm39)	missense	possibly damaging	0.48
R2356:Adcy6	UTSW	15	98,494,897 (GRCm39)	splice site	probably null
R2898:Adcy6	UTSW	15	98,491,369 (GRCm39)	missense	probably damaging	1.00
R3001:Adcy6	UTSW	15	98,494,541 (GRCm39)	missense	probably benign	0.01
R3002:Adcy6	UTSW	15	98,494,541 (GRCm39)	missense	probably benign	0.01
R3794:Adcy6	UTSW	15	98,496,824 (GRCm39)	missense	probably damaging	1.00
R3884:Adcy6	UTSW	15	98,495,055 (GRCm39)	missense	probably benign	0.06
R4348:Adcy6	UTSW	15	98,502,041 (GRCm39)	missense	probably benign	0.44
R4351:Adcy6	UTSW	15	98,502,041 (GRCm39)	missense	probably benign	0.44
R4542:Adcy6	UTSW	15	98,496,869 (GRCm39)	missense	possibly damaging	0.70
R4548:Adcy6	UTSW	15	98,496,540 (GRCm39)	missense	probably damaging	1.00
R5693:Adcy6	UTSW	15	98,501,870 (GRCm39)	missense	probably damaging	1.00
R5707:Adcy6	UTSW	15	98,496,622 (GRCm39)	missense	probably damaging	1.00
R5994:Adcy6	UTSW	15	98,491,545 (GRCm39)	missense	probably damaging	1.00
R5998:Adcy6	UTSW	15	98,492,235 (GRCm39)	nonsense	probably null
R6142:Adcy6	UTSW	15	98,496,303 (GRCm39)	missense	probably benign
R6242:Adcy6	UTSW	15	98,501,896 (GRCm39)	nonsense	probably null
R6305:Adcy6	UTSW	15	98,496,526 (GRCm39)	missense	probably benign	0.13
R6751:Adcy6	UTSW	15	98,494,086 (GRCm39)	missense	probably benign
R7130:Adcy6	UTSW	15	98,495,110 (GRCm39)	missense	probably benign
R7335:Adcy6	UTSW	15	98,501,757 (GRCm39)	missense	probably benign	0.29
R7643:Adcy6	UTSW	15	98,491,449 (GRCm39)	missense	probably benign
R7658:Adcy6	UTSW	15	98,493,948 (GRCm39)	missense	probably benign	0.00
R7748:Adcy6	UTSW	15	98,502,437 (GRCm39)	missense	probably benign	0.01
R7761:Adcy6	UTSW	15	98,497,895 (GRCm39)	missense	probably damaging	1.00
R7774:Adcy6	UTSW	15	98,494,414 (GRCm39)	missense	probably benign
R7954:Adcy6	UTSW	15	98,494,773 (GRCm39)	critical splice donor site	probably null
R8259:Adcy6	UTSW	15	98,498,919 (GRCm39)	missense	probably damaging	0.97
R8260:Adcy6	UTSW	15	98,498,919 (GRCm39)	missense	probably damaging	0.97
R8520:Adcy6	UTSW	15	98,502,041 (GRCm39)	missense	probably benign
R8790:Adcy6	UTSW	15	98,496,881 (GRCm39)	missense	probably damaging	1.00
R8834:Adcy6	UTSW	15	98,498,922 (GRCm39)	missense	possibly damaging	0.94
R8951:Adcy6	UTSW	15	98,502,140 (GRCm39)	missense	possibly damaging	0.95
R9297:Adcy6	UTSW	15	98,491,466 (GRCm39)	missense	possibly damaging	0.91
R9318:Adcy6	UTSW	15	98,491,466 (GRCm39)	missense	possibly damaging	0.91
X0020:Adcy6	UTSW	15	98,496,616 (GRCm39)	missense	probably damaging	0.99
X0021:Adcy6	UTSW	15	98,501,823 (GRCm39)	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