Mutagenetix > Incidental Mutation

Incidental Mutation 'R8790:Adcy6'

670905

Institutional Source

Beutler Lab

Gene Symbol

Adcy6

Ensembl Gene

ENSMUSG00000022994

Gene Name

adenylate cyclase 6

Synonyms

AC6

MMRRC Submission

068634-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8790 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98487854-98507957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98496881 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 465 (T465S)

Ref Sequence

ENSEMBL: ENSMUSP00000093939 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000096224
AA Change: T465S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994
AA Change: T465S

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 damaging
Transcript: ENSMUST00000228566
AA Change: T463S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228903
AA Change: T463S

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (83/83)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	G	A	10: 78,928,285 (GRCm39)	P68S	possibly damaging	Het
Abcb5	T	A	12: 118,831,620 (GRCm39)	N1244I	possibly damaging	Het
Abcb9	A	G	5: 124,215,304 (GRCm39)	I479T	probably damaging	Het
Abi3bp	A	T	16: 56,495,437 (GRCm39)	I920F	probably damaging	Het
Ankrd12	A	T	17: 66,290,153 (GRCm39)	I1760N	possibly damaging	Het
Aoah	C	T	13: 21,035,840 (GRCm39)	R140C	probably benign	Het
Bmp7	T	A	2: 172,712,060 (GRCm39)	D388V	probably benign	Het
Bphl	C	T	13: 34,244,468 (GRCm39)	A195V	probably benign	Het
Cckar	A	G	5: 53,857,291 (GRCm39)	V373A	probably damaging	Het
Cd79b	T	G	11: 106,202,873 (GRCm39)	D243A	possibly damaging	Het
Cdc25a	T	A	9: 109,716,416 (GRCm39)		probably null	Het
Cfap57	T	A	4: 118,439,111 (GRCm39)	Q805L	possibly damaging	Het
Ckap2l	A	T	2: 129,111,172 (GRCm39)	M675K	possibly damaging	Het
Cluap1	T	A	16: 3,735,787 (GRCm39)		probably benign	Het
Cyp2b9	A	G	7: 25,898,167 (GRCm39)		probably benign	Het
D930020B18Rik	G	A	10: 121,503,568 (GRCm39)	G248S	possibly damaging	Het
Ddx1	A	T	12: 13,273,993 (GRCm39)	I570N	probably damaging	Het
Dmkn	G	A	7: 30,463,449 (GRCm39)	S34N	probably benign	Het
Dnaaf2	T	C	12: 69,244,068 (GRCm39)	D331G	probably damaging	Het
Dnah1	A	T	14: 31,018,232 (GRCm39)	Y1429N	possibly damaging	Het
Dnajc5b	T	A	3: 19,600,981 (GRCm39)	L26Q	probably damaging	Het
Epb41l1	T	G	2: 156,345,722 (GRCm39)	F242V	possibly damaging	Het
Esam	A	T	9: 37,442,927 (GRCm39)	I72F	probably benign	Het
Fam110a	C	T	2: 151,812,338 (GRCm39)	R144H	probably damaging	Het
Fam186a	T	C	15: 99,841,024 (GRCm39)	D1740G	possibly damaging	Het
Fam98a	A	G	17: 75,854,684 (GRCm39)	F42L	possibly damaging	Het
Fras1	C	T	5: 96,903,236 (GRCm39)	P3038S	probably damaging	Het
Gm32742	C	A	9: 51,059,140 (GRCm39)	G1035C	probably damaging	Het
Irf5	T	A	6: 29,535,026 (GRCm39)		probably benign	Het
Jam2	T	A	16: 84,606,259 (GRCm39)	I91K	possibly damaging	Het
Klhdc3	A	G	17: 46,991,626 (GRCm39)		probably benign	Het
Lgi1	C	T	19: 38,289,296 (GRCm39)	S215F	possibly damaging	Het
Lrp1	G	A	10: 127,374,946 (GRCm39)	T4504I	probably damaging	Het
Mafa	T	A	15: 75,619,224 (GRCm39)	H183L	probably benign	Het
Map2	T	C	1: 66,477,997 (GRCm39)	V1773A	probably damaging	Het
Mesp1	G	A	7: 79,442,825 (GRCm39)	R151*	probably null	Het
Mphosph9	T	C	5: 124,453,736 (GRCm39)	D192G	probably damaging	Het
Mthfr	C	A	4: 148,139,991 (GRCm39)	D678E	probably benign	Het
Myo15a	A	C	11: 60,367,362 (GRCm39)	T41P	possibly damaging	Het
Myo15a	G	T	11: 60,378,047 (GRCm39)	R185L		Het
Myom2	T	G	8: 15,169,242 (GRCm39)	L1136W	probably damaging	Het
Naa30	A	G	14: 49,418,208 (GRCm39)	D316G	probably benign	Het
Ngef	T	C	1: 87,405,319 (GRCm39)	Q697R	probably benign	Het
Nin	T	C	12: 70,067,793 (GRCm39)	R1945G		Het
Obox8	A	T	7: 14,066,908 (GRCm39)	Y45*	probably null	Het
Ocln	C	T	13: 100,642,727 (GRCm39)	V452I	probably benign	Het
Oog3	T	A	4: 143,885,710 (GRCm39)	D296V	possibly damaging	Het
Or5a1	T	C	19: 12,097,906 (GRCm39)	N57D	probably damaging	Het
Or5h19	T	C	16: 58,856,580 (GRCm39)	I173M	possibly damaging	Het
Or8g4	T	A	9: 39,662,204 (GRCm39)	I174K	probably damaging	Het
Or8k35	T	C	2: 86,424,278 (GRCm39)	K298R	possibly damaging	Het
Papln	T	C	12: 83,823,918 (GRCm39)	V499A	probably benign	Het
Paxip1	G	T	5: 27,977,078 (GRCm39)	P328Q	unknown	Het
Pcnx2	T	C	8: 126,604,306 (GRCm39)	H650R	probably benign	Het
Pcnx3	A	T	19: 5,735,206 (GRCm39)	V540E	possibly damaging	Het
Pnpla5	C	T	15: 84,002,819 (GRCm39)	G255R	probably damaging	Het
Ppdpf	G	T	2: 180,829,646 (GRCm39)	E34*	probably null	Het
Pum3	T	C	19: 27,394,199 (GRCm39)	Y357C	probably damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rasa3	A	T	8: 13,727,391 (GRCm39)		probably null	Het
Rcor2	T	A	19: 7,246,340 (GRCm39)	M5K	possibly damaging	Het
Rere	A	G	4: 150,593,332 (GRCm39)	T309A	unknown	Het
Ryr1	A	T	7: 28,776,297 (GRCm39)	I2250N	probably damaging	Het
Sema6c	T	C	3: 95,075,341 (GRCm39)	V130A	probably benign	Het
Slc26a9	T	A	1: 131,683,155 (GRCm39)	S200T	probably damaging	Het
Slc38a10	A	G	11: 120,023,519 (GRCm39)	L299P	possibly damaging	Het
Smim10l1	G	T	6: 133,084,848 (GRCm39)	V72L	unknown	Het
Sptbn2	C	A	19: 4,782,052 (GRCm39)	F430L	probably damaging	Het
Svep1	T	A	4: 58,118,145 (GRCm39)	Y859F	possibly damaging	Het
Svil	C	A	18: 5,056,098 (GRCm39)	Q324K	possibly damaging	Het
Tgfb1i1	A	T	7: 127,852,049 (GRCm39)	D377V	probably damaging	Het
Tmed10	C	A	12: 85,390,254 (GRCm39)	W203L	probably damaging	Het
Tmem51	T	A	4: 141,765,056 (GRCm39)	M1L	possibly damaging	Het
Tmprss11e	A	G	5: 86,855,259 (GRCm39)	V382A	probably benign	Het
Tnfrsf13b	G	T	11: 61,038,350 (GRCm39)	R211L	possibly damaging	Het
Tns3	A	G	11: 8,468,273 (GRCm39)	V317A	probably damaging	Het
Top3a	G	A	11: 60,631,363 (GRCm39)	P1000S	possibly damaging	Het
Traj32	A	T	14: 54,423,587 (GRCm39)	I10F		Het
Trav8-1	T	A	14: 53,707,677 (GRCm39)	C106S	probably damaging	Het
Trbv2	A	G	6: 41,024,655 (GRCm39)	I24V	probably benign	Het
Ubap2	A	G	4: 41,209,351 (GRCm39)		probably null	Het
Vmn2r97	T	A	17: 19,160,472 (GRCm39)	C536S	probably damaging	Het
Zfp879	G	T	11: 50,723,429 (GRCm39)	C542*	probably null	Het
Znfx1	C	T	2: 166,892,500 (GRCm39)		probably benign	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
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
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'- GTGACCAACTAGACCCTTCC -3'
(R):5'- TGCCTCGATTGCTTGGATTC -3'

Sequencing Primer
(F):5'- GTGACCAACTAGACCCTTCCTTCTAC -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'

Posted On

2021-04-30