Mutagenetix > Incidental Mutation

Incidental Mutation 'R6242:Adcy6'

505328

Institutional Source

Beutler Lab

Gene Symbol

Adcy6

Ensembl Gene

ENSMUSG00000022994

Gene Name

adenylate cyclase 6

Synonyms

AC6

MMRRC Submission

044434-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6242 (G1)

Quality Score

199.009

Status

Validated

Chromosome

Chromosomal Location

98487854-98507957 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 98501896 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 239 (C239*)

Ref Sequence

ENSEMBL: ENSMUSP00000154696 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000096224
AA Change: C239*

SMART Domains

Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994
AA Change: C239*

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

Predicted Effect

probably null
Transcript: ENSMUST00000228566
AA Change: C239*

Predicted Effect

probably null
Transcript: ENSMUST00000228903
AA Change: C239*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

99% (75/76)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c6	A	G	13: 4,486,361 (GRCm39)	Q56R	probably benign	Het
Apaf1	T	A	10: 90,898,025 (GRCm39)	D244V	probably damaging	Het
Araf	G	T	X: 20,726,339 (GRCm39)	R601L	probably damaging	Homo
Arhgef11	C	A	3: 87,635,385 (GRCm39)	A898E	probably benign	Het
Asxl3	A	T	18: 22,655,433 (GRCm39)	N1148Y	probably damaging	Het
Atf6	T	A	1: 170,621,545 (GRCm39)	Q492L	possibly damaging	Het
Atrnl1	G	T	19: 57,630,910 (GRCm39)	V226F	probably benign	Het
Cfap68	C	T	9: 50,675,215 (GRCm39)	E148K	probably benign	Het
Cntnap1	A	T	11: 101,073,364 (GRCm39)	Y615F	probably damaging	Het
Crybg3	T	C	16: 59,376,053 (GRCm39)	T1734A	probably benign	Het
Ctdp1	A	C	18: 80,502,427 (GRCm39)	V161G	probably damaging	Het
Cyp4a30b	T	A	4: 115,311,587 (GRCm39)	V85E	possibly damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Epha6	A	T	16: 59,503,025 (GRCm39)	W961R	probably damaging	Het
Fam114a1	A	G	5: 65,188,695 (GRCm39)	E475G	probably damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fancm	A	T	12: 65,163,216 (GRCm39)	Q1460L	probably benign	Het
Fancm	C	A	12: 65,163,223 (GRCm39)	N1462K	probably benign	Het
Fgf14	T	C	14: 124,913,940 (GRCm39)	K64E	probably benign	Het
Fndc5	T	C	4: 129,033,688 (GRCm39)	V152A	probably benign	Het
Garem1	C	G	18: 21,262,229 (GRCm39)	V862L	possibly damaging	Het
Grin3b	G	A	10: 79,812,013 (GRCm39)	G814R	probably damaging	Het
Hacd4	A	G	4: 88,332,524 (GRCm39)	S226P	probably benign	Het
Htt	A	G	5: 35,003,356 (GRCm39)	Y1277C	probably damaging	Het
Igkv1-131	T	A	6: 67,743,062 (GRCm39)	D107V	probably damaging	Het
Iqcc	T	C	4: 129,510,639 (GRCm39)	D292G	probably damaging	Het
Krtap13	C	T	16: 88,548,384 (GRCm39)	V35I	probably damaging	Het
Liat1	T	C	11: 75,890,981 (GRCm39)	S32P	probably damaging	Het
Lrrc59	G	T	11: 94,525,809 (GRCm39)	L132F	possibly damaging	Het
Mcub	T	C	3: 129,709,444 (GRCm39)	S290G	probably benign	Het
Mettl4	A	G	17: 95,042,802 (GRCm39)	W345R	probably damaging	Het
Msgn1	G	A	12: 11,258,526 (GRCm39)	R142W	probably damaging	Het
Myo5c	A	G	9: 75,180,893 (GRCm39)	I761V	probably benign	Het
Neb	T	A	2: 52,066,824 (GRCm39)	K5879M	probably damaging	Het
Nkd2	C	T	13: 73,970,905 (GRCm39)	V226M	probably damaging	Het
Nt5el	T	A	13: 105,246,048 (GRCm39)	V203E	probably benign	Het
Or51a24	T	G	7: 103,733,771 (GRCm39)	H172P	possibly damaging	Het
Or5b106	T	A	19: 13,123,450 (GRCm39)	H191L	probably benign	Het
Parp4	T	A	14: 56,832,856 (GRCm39)	L393*	probably null	Het
Pcdhgb6	G	A	18: 37,876,608 (GRCm39)	V439I	probably benign	Het
Pde1a	T	A	2: 79,959,136 (GRCm39)	T15S	probably benign	Het
Pgr	T	A	9: 8,900,980 (GRCm39)	I171N	probably benign	Het
Podxl	T	A	6: 31,503,180 (GRCm39)	D296V	probably benign	Het
Polr3e	A	T	7: 120,539,690 (GRCm39)	E479V	possibly damaging	Het
Prdm10	A	T	9: 31,252,548 (GRCm39)	H427L	possibly damaging	Het
Prl5a1	A	T	13: 28,326,538 (GRCm39)	K5*	probably null	Het
Prph	A	G	15: 98,955,004 (GRCm39)	S325G	probably damaging	Het
Rabl2	C	A	15: 89,468,555 (GRCm39)	W49L	probably benign	Het
Rbbp8nl	T	A	2: 179,922,767 (GRCm39)	I209F	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Homo
Scn7a	T	C	2: 66,531,110 (GRCm39)	D589G	probably benign	Het
Sdr42e1	A	T	8: 118,389,936 (GRCm39)	L235Q	possibly damaging	Het
Serpina3a	T	C	12: 104,082,260 (GRCm39)	M11T	probably benign	Het
Slc6a4	A	T	11: 76,909,184 (GRCm39)	K399*	probably null	Het
Slco4c1	T	A	1: 96,767,008 (GRCm39)	T337S	probably damaging	Het
Spc25	A	T	2: 69,027,555 (GRCm39)	F112L	probably damaging	Het
Swt1	A	G	1: 151,283,365 (GRCm39)	S331P	probably benign	Het
Tab1	A	T	15: 80,039,971 (GRCm39)	K264*	probably null	Het
Tagln3	T	A	16: 45,544,701 (GRCm39)		probably benign	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tbck	A	G	3: 132,400,189 (GRCm39)	D80G	probably benign	Het
Tcim	A	T	8: 24,928,911 (GRCm39)	M1K	probably null	Het
Thap2	A	G	10: 115,208,831 (GRCm39)	S37P	unknown	Het
Tjp2	A	T	19: 24,076,967 (GRCm39)		probably null	Het
Tln1	G	A	4: 43,533,145 (GRCm39)	S2390L	probably damaging	Het
Trpm5	T	G	7: 142,626,919 (GRCm39)	I1101L	probably benign	Het
Ttc3	T	G	16: 94,243,554 (GRCm39)	M831R	probably benign	Het
Tulp3	A	G	6: 128,300,050 (GRCm39)	C459R	probably damaging	Het
Uaca	G	A	9: 60,777,326 (GRCm39)	R571Q	probably damaging	Het
Unc13b	A	T	4: 43,165,800 (GRCm39)	T195S	possibly damaging	Het
Urgcp	A	G	11: 5,666,691 (GRCm39)	L549P	probably benign	Het
Usp10	G	T	8: 120,668,577 (GRCm39)	A293S	probably benign	Het
Vmn2r23	A	G	6: 123,681,359 (GRCm39)	E89G	possibly damaging	Het
Vmn2r75	A	C	7: 85,814,592 (GRCm39)	D300E	probably damaging	Het
Wif1	T	C	10: 120,870,366 (GRCm39)	I40T	possibly damaging	Het
Zmynd8	G	A	2: 165,740,867 (GRCm39)	R6C	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
R1473:Adcy6	UTSW	15	98,490,624 (GRCm39)	missense	probably damaging	0.99
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
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'- TGTGTCCCTCCATCAGCAAG -3'
(R):5'- TGTTGACTTTCCACGCTGCG -3'

Sequencing Primer
(F):5'- GTCCCTCCATCAGCAAGTTCTC -3'
(R):5'- AGCCTCAGCCTGCTTACGTG -3'

Posted On

2018-02-28