Mutagenetix > Incidental Mutation

Incidental Mutation 'R7748:Adcy6'

597055

Institutional Source

Beutler Lab

Gene Symbol

Adcy6

Ensembl Gene

ENSMUSG00000022994

Gene Name

adenylate cyclase 6

Synonyms

MMRRC Submission

045804-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7748 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98589973-98610076 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98604556 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 59 (H59L)

Ref Sequence

ENSEMBL: ENSMUSP00000093939 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096224] [ENSMUST00000226500] [ENSMUST00000227501] [ENSMUST00000228566] [ENSMUST00000228903]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000096224
AA Change: H59L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994
AA Change: H59L

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

probably benign
Transcript: ENSMUST00000226500

Predicted Effect

probably benign
Transcript: ENSMUST00000227501
AA Change: H59L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000228566
AA Change: H59L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000228903
AA Change: H59L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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 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: 111 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	A	7: 131,361,792 (GRCm38)	L103F	probably benign	Het
4932438A13Rik	A	G	3: 36,959,335 (GRCm38)		probably null	Het
5330417H12Rik	A	G	7: 107,624,558 (GRCm38)	L103P	unknown	Het
Actb	T	C	5: 142,904,695 (GRCm38)	I151V	probably benign	Het
Adss	G	C	1: 177,772,202 (GRCm38)	S272*	probably null	Het
Aga	A	T	8: 53,511,805 (GRCm38)	M1L	possibly damaging	Het
Anxa5	G	A	3: 36,465,331 (GRCm38)	T3M	probably damaging	Het
Arhgap45	A	T	10: 80,016,932 (GRCm38)		probably benign	Het
Atp6v0a2	A	T	5: 124,716,496 (GRCm38)	H639L	probably benign	Het
BC005537	C	T	13: 24,803,399 (GRCm38)	R7W	possibly damaging	Het
Bcl2l2	C	T	14: 54,884,379 (GRCm38)		probably benign	Het
Bod1l	A	C	5: 41,832,340 (GRCm38)	S347A	probably damaging	Het
Calcoco1	T	C	15: 102,719,561 (GRCm38)	D46G	probably damaging	Het
Camk1	T	C	6: 113,340,328 (GRCm38)	E60G	probably damaging	Het
Capza1	A	T	3: 104,825,405 (GRCm38)		probably null	Het
Ccdc18	T	A	5: 108,149,041 (GRCm38)		probably null	Het
Cdh20	G	A	1: 104,941,299 (GRCm38)	A172T	probably damaging	Het
Cdk4	C	T	10: 127,064,429 (GRCm38)	A65V	possibly damaging	Het
Cftr	T	C	6: 18,277,889 (GRCm38)		probably null	Het
Chd3	T	C	11: 69,355,633 (GRCm38)	M1092V	probably benign	Het
Chd6	A	T	2: 160,966,619 (GRCm38)	H1558Q	probably benign	Het
Chil1	A	G	1: 134,189,228 (GRCm38)	H318R	probably benign	Het
Cps1	A	G	1: 67,139,806 (GRCm38)	Y59C	probably damaging	Het
Cyb5r4	T	C	9: 87,032,381 (GRCm38)	V111A	probably damaging	Het
D430042O09Rik	A	T	7: 125,829,801 (GRCm38)	M558L	probably benign	Het
Ddx39b	G	A	17: 35,252,750 (GRCm38)	V291M	probably damaging	Het
Dhx57	A	G	17: 80,265,117 (GRCm38)	F709S	probably damaging	Het
Eef1b2	A	T	1: 63,177,865 (GRCm38)	K64N	probably damaging	Het
Fam135a	A	G	1: 24,028,969 (GRCm38)	S940P	probably benign	Het
Fam234b	T	A	6: 135,209,351 (GRCm38)	V119E	probably damaging	Het
Fbxo46	G	C	7: 19,136,533 (GRCm38)	C359S	probably damaging	Het
Fkbp14	C	A	6: 54,595,520 (GRCm38)		probably benign	Het
Fmn2	T	A	1: 174,666,649 (GRCm38)	V1243E	probably damaging	Het
Fsbp	C	A	4: 11,579,924 (GRCm38)	T64K	probably damaging	Het
Fscb	A	T	12: 64,474,407 (GRCm38)	M95K	probably benign	Het
Fyb	T	G	15: 6,638,826 (GRCm38)	V500G	probably damaging	Het
G2e3	A	G	12: 51,371,667 (GRCm38)	N615S	probably benign	Het
Gart	T	C	16: 91,630,652 (GRCm38)	D486G	possibly damaging	Het
Gas2l2	T	A	11: 83,422,398 (GRCm38)	D696V	probably benign	Het
Glmn	C	T	5: 107,562,244 (GRCm38)		probably null	Het
Gm47985	A	T	1: 151,182,974 (GRCm38)	D122V	probably damaging	Het
Gm49333	A	T	16: 20,633,084 (GRCm38)	D407V	probably damaging	Het
Gm7168	A	G	17: 13,948,652 (GRCm38)	K94E	probably benign	Het
Gm996	T	A	2: 25,578,959 (GRCm38)	E313D	possibly damaging	Het
Gnai2	T	C	9: 107,615,735 (GRCm38)	H323R		Het
Helz2	C	T	2: 181,234,531 (GRCm38)	R1390H	probably damaging	Het
Igf2bp1	T	C	11: 95,967,587 (GRCm38)	M453V	probably benign	Het
Ighv3-1	C	T	12: 113,964,650 (GRCm38)	V30M	probably damaging	Het
Inpp5a	A	T	7: 139,574,995 (GRCm38)	R343S	probably damaging	Het
Itga8	T	A	2: 12,230,239 (GRCm38)	I403F	possibly damaging	Het
Krt33a	C	T	11: 100,011,602 (GRCm38)	R404H	probably benign	Het
Krt34	T	A	11: 100,038,938 (GRCm38)	E244V	probably damaging	Het
Krt42	T	C	11: 100,266,966 (GRCm38)	E224G	probably damaging	Het
Krtap5-2	TCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCCCCACAGGAACTACA	TCCACAGGAACTACA	7: 142,175,108 (GRCm38)		probably benign	Het
Lama1	T	C	17: 67,750,590 (GRCm38)	L553P		Het
Lcn9	T	A	2: 25,824,914 (GRCm38)	*179K	probably null	Het
Lrrc2	T	G	9: 110,980,931 (GRCm38)	M345R	possibly damaging	Het
March11	T	C	15: 26,387,830 (GRCm38)	V257A	probably damaging	Het
Masp2	T	C	4: 148,605,706 (GRCm38)	I224T	probably benign	Het
Mpz	A	T	1: 171,159,940 (GRCm38)		probably null	Het
Mtr	C	T	13: 12,227,839 (GRCm38)	A442T	probably benign	Het
Muc5b	A	G	7: 141,847,805 (GRCm38)	K596R	unknown	Het
Myo15	T	G	11: 60,504,901 (GRCm38)	F1397C		Het
Ncor2	T	C	5: 125,109,967 (GRCm38)	I173V	unknown	Het
Ngly1	T	A	14: 16,290,820 (GRCm38)	I434K	possibly damaging	Het
Notch2	A	G	3: 98,138,484 (GRCm38)	H1655R	possibly damaging	Het
Notum	C	T	11: 120,654,801 (GRCm38)	A390T	probably damaging	Het
Olfr381	T	G	11: 73,486,168 (GRCm38)	I219L	probably benign	Het
Olfr519	T	C	7: 108,894,078 (GRCm38)	T115A	probably benign	Het
Pds5a	T	A	5: 65,619,666 (GRCm38)	I51F	possibly damaging	Het
Pdzd2	C	A	15: 12,385,786 (GRCm38)	R966L	possibly damaging	Het
Plk3	T	C	4: 117,131,728 (GRCm38)	Y278C	probably damaging	Het
Plxna1	T	A	6: 89,337,353 (GRCm38)		probably null	Het
Plxna1	C	G	6: 89,337,352 (GRCm38)		probably null	Het
Ppp4r4	G	A	12: 103,605,061 (GRCm38)		probably null	Het
Pramel6	T	A	2: 87,508,699 (GRCm38)	V81E	probably damaging	Het
Prdm2	T	C	4: 143,135,889 (GRCm38)	E277G	possibly damaging	Het
Prkg1	T	A	19: 30,993,091 (GRCm38)	I222F	possibly damaging	Het
Proser3	A	T	7: 30,540,072 (GRCm38)	S536T	possibly damaging	Het
Prrt4	C	A	6: 29,177,191 (GRCm38)	G193V	probably damaging	Het
Ptpn21	A	T	12: 98,688,772 (GRCm38)	H645Q	probably benign	Het
Ptprd	T	C	4: 76,099,504 (GRCm38)	I744V	probably null	Het
Rad54l2	A	G	9: 106,719,034 (GRCm38)	V235A	possibly damaging	Het
Repin1	G	T	6: 48,597,345 (GRCm38)	E403*	probably null	Het
Rgs22	C	T	15: 36,122,269 (GRCm38)		probably null	Het
Rtcb	A	T	10: 85,941,968 (GRCm38)	D447E	probably benign	Het
Rtn1	C	T	12: 72,216,926 (GRCm38)	V744I	possibly damaging	Het
Scfd1	T	G	12: 51,389,357 (GRCm38)	I96M	probably benign	Het
Serpina3b	T	C	12: 104,130,463 (GRCm38)	M1T	probably null	Het
Slc1a4	T	C	11: 20,332,252 (GRCm38)	Y74C	probably damaging	Het
Slc9b2	A	T	3: 135,326,179 (GRCm38)	I267F	possibly damaging	Het
Sorcs2	A	T	5: 36,229,175 (GRCm38)	M173K	possibly damaging	Het
Sparc	T	C	11: 55,398,600 (GRCm38)	I226V	probably benign	Het
Spata22	T	G	11: 73,336,254 (GRCm38)	I98S	probably null	Het
Spef2	C	T	15: 9,652,945 (GRCm38)	V917M	probably damaging	Het
Sspo	C	A	6: 48,449,465 (GRCm38)	C139*	probably null	Het
Tenm4	A	G	7: 96,894,702 (GRCm38)	D2012G	probably damaging	Het
Tgm5	G	A	2: 121,052,808 (GRCm38)	R351C	probably damaging	Het
Tmem145	G	A	7: 25,307,328 (GRCm38)	W82*	probably null	Het
Tmem159	A	T	7: 120,115,479 (GRCm38)	I64F	possibly damaging	Het
Topors	T	A	4: 40,262,654 (GRCm38)	D210V	probably damaging	Het
Tssk4	A	T	14: 55,651,112 (GRCm38)	H146L	probably damaging	Het
Unc93b1	T	A	19: 3,935,250 (GRCm38)	D19E	unknown	Het
Usp17lc	A	G	7: 103,418,481 (GRCm38)	T328A	probably damaging	Het
Utrn	A	G	10: 12,614,508 (GRCm38)	Y43H	probably benign	Het
Vmn1r25	T	A	6: 57,978,564 (GRCm38)	I247F	probably damaging	Het
Vmn2r78	A	T	7: 86,921,135 (GRCm38)	Q287L	probably benign	Het
Vps13c	T	A	9: 67,963,089 (GRCm38)	I3170N	probably benign	Het
Zfc3h1	T	A	10: 115,400,815 (GRCm38)	M398K	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,815,240 (GRCm38)		probably benign	Het
Zfp773	T	C	7: 7,132,908 (GRCm38)	R230G	probably benign	Het

Other mutations in Adcy6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01114:Adcy6	APN	15	98,598,976 (GRCm38)	missense	probably damaging	1.00
IGL01132:Adcy6	APN	15	98,597,851 (GRCm38)	missense	probably benign	0.14
IGL01642:Adcy6	APN	15	98,594,509 (GRCm38)	missense	possibly damaging	0.88
IGL01647:Adcy6	APN	15	98,600,275 (GRCm38)	missense	probably damaging	1.00
IGL01788:Adcy6	APN	15	98,596,519 (GRCm38)	nonsense	probably null
IGL02122:Adcy6	APN	15	98,598,882 (GRCm38)	missense	possibly damaging	0.66
IGL02210:Adcy6	APN	15	98,594,971 (GRCm38)	missense	possibly damaging	0.63
IGL02249:Adcy6	APN	15	98,599,914 (GRCm38)	missense	probably damaging	1.00
IGL02404:Adcy6	APN	15	98,596,938 (GRCm38)	missense	probably benign
IGL02691:Adcy6	APN	15	98,604,304 (GRCm38)	missense	probably damaging	1.00
PIT4515001:Adcy6	UTSW	15	98,595,146 (GRCm38)	missense	probably benign	0.04
R0178:Adcy6	UTSW	15	98,604,215 (GRCm38)	missense	probably benign	0.00
R0497:Adcy6	UTSW	15	98,597,725 (GRCm38)	critical splice donor site	probably null
R0739:Adcy6	UTSW	15	98,598,379 (GRCm38)	missense	probably benign	0.00
R1454:Adcy6	UTSW	15	98,604,728 (GRCm38)	missense	probably damaging	1.00
R1473:Adcy6	UTSW	15	98,592,743 (GRCm38)	missense	probably damaging	0.99
R1536:Adcy6	UTSW	15	98,600,007 (GRCm38)	missense	probably damaging	1.00
R1927:Adcy6	UTSW	15	98,598,498 (GRCm38)	splice site	probably null
R2178:Adcy6	UTSW	15	98,594,355 (GRCm38)	missense	probably damaging	1.00
R2294:Adcy6	UTSW	15	98,597,441 (GRCm38)	missense	possibly damaging	0.48
R2356:Adcy6	UTSW	15	98,597,016 (GRCm38)	splice site	probably null
R2898:Adcy6	UTSW	15	98,593,488 (GRCm38)	missense	probably damaging	1.00
R3001:Adcy6	UTSW	15	98,596,660 (GRCm38)	missense	probably benign	0.01
R3002:Adcy6	UTSW	15	98,596,660 (GRCm38)	missense	probably benign	0.01
R3794:Adcy6	UTSW	15	98,598,943 (GRCm38)	missense	probably damaging	1.00
R3884:Adcy6	UTSW	15	98,597,174 (GRCm38)	missense	probably benign	0.06
R4348:Adcy6	UTSW	15	98,604,160 (GRCm38)	missense	probably benign	0.44
R4351:Adcy6	UTSW	15	98,604,160 (GRCm38)	missense	probably benign	0.44
R4542:Adcy6	UTSW	15	98,598,988 (GRCm38)	missense	possibly damaging	0.70
R4548:Adcy6	UTSW	15	98,598,659 (GRCm38)	missense	probably damaging	1.00
R5693:Adcy6	UTSW	15	98,603,989 (GRCm38)	missense	probably damaging	1.00
R5707:Adcy6	UTSW	15	98,598,741 (GRCm38)	missense	probably damaging	1.00
R5994:Adcy6	UTSW	15	98,593,664 (GRCm38)	missense	probably damaging	1.00
R5998:Adcy6	UTSW	15	98,594,354 (GRCm38)	nonsense	probably null
R6142:Adcy6	UTSW	15	98,598,422 (GRCm38)	missense	probably benign
R6242:Adcy6	UTSW	15	98,604,015 (GRCm38)	nonsense	probably null
R6305:Adcy6	UTSW	15	98,598,645 (GRCm38)	missense	probably benign	0.13
R6751:Adcy6	UTSW	15	98,596,205 (GRCm38)	missense	probably benign
R7130:Adcy6	UTSW	15	98,597,229 (GRCm38)	missense	probably benign
R7335:Adcy6	UTSW	15	98,603,876 (GRCm38)	missense	probably benign	0.29
R7643:Adcy6	UTSW	15	98,593,568 (GRCm38)	missense	probably benign
R7658:Adcy6	UTSW	15	98,596,067 (GRCm38)	missense	probably benign	0.00
R7761:Adcy6	UTSW	15	98,600,014 (GRCm38)	missense	probably damaging	1.00
R7774:Adcy6	UTSW	15	98,596,533 (GRCm38)	missense	probably benign
R7954:Adcy6	UTSW	15	98,596,892 (GRCm38)	critical splice donor site	probably null
R8259:Adcy6	UTSW	15	98,601,038 (GRCm38)	missense	probably damaging	0.97
R8260:Adcy6	UTSW	15	98,601,038 (GRCm38)	missense	probably damaging	0.97
R8520:Adcy6	UTSW	15	98,604,160 (GRCm38)	missense	probably benign
R8790:Adcy6	UTSW	15	98,599,000 (GRCm38)	missense	probably damaging	1.00
R8834:Adcy6	UTSW	15	98,601,041 (GRCm38)	missense	possibly damaging	0.94
R8951:Adcy6	UTSW	15	98,604,259 (GRCm38)	missense	possibly damaging	0.95
R9297:Adcy6	UTSW	15	98,593,585 (GRCm38)	missense	possibly damaging	0.91
R9318:Adcy6	UTSW	15	98,593,585 (GRCm38)	missense	possibly damaging	0.91
X0020:Adcy6	UTSW	15	98,598,735 (GRCm38)	missense	probably damaging	0.99
X0021:Adcy6	UTSW	15	98,603,942 (GRCm38)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CAGAGCGGAACTGCTTAGAC -3'
(R):5'- CAGCAGCATGTCATGGTTTAGTG -3'

Sequencing Primer
(F):5'- TGCTTAGACTGGAACACCTG -3'
(R):5'- TGGCCTCCTGGTTCCCAAAG -3'

Posted On

2019-11-26