Mutagenetix > Incidental Mutation

Incidental Mutation 'R7658:Adcy6'

591393

Institutional Source

Beutler Lab

Gene Symbol

Adcy6

Ensembl Gene

ENSMUSG00000022994

Gene Name

adenylate cyclase 6

Synonyms

AC6

MMRRC Submission

045703-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7658 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98487854-98507957 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98493948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 865 (Y865F)

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 benign
Transcript: ENSMUST00000096224
AA Change: Y865F

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

SMART Domains

Protein: ENSMUSP00000093939
Gene: ENSMUSG00000022994
AA Change: Y865F

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: ENSMUST00000228566
AA Change: Y863F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

Predicted Effect

probably benign
Transcript: ENSMUST00000228903

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	G	T	16: 88,860,618 (GRCm39)	S72Y	unknown	Het
Abca8b	T	A	11: 109,826,543 (GRCm39)	K1568N	probably benign	Het
Adgrf3	A	T	5: 30,402,204 (GRCm39)	V608D	probably benign	Het
Agbl1	G	T	7: 76,416,117 (GRCm39)	A965S	unknown	Het
Agbl3	C	T	6: 34,809,443 (GRCm39)	P690L	probably benign	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Amt	A	C	9: 108,174,430 (GRCm39)	H65P	probably damaging	Het
Ankrd11	T	A	8: 123,620,403 (GRCm39)	T1150S	probably benign	Het
Arhgap15	A	C	2: 44,032,280 (GRCm39)	H288P	probably benign	Het
Arhgap39	A	T	15: 76,621,617 (GRCm39)	M328K	probably benign	Het
Arhgef12	T	C	9: 42,903,832 (GRCm39)	K743R	probably damaging	Het
Atg2a	T	G	19: 6,301,293 (GRCm39)	V789G	probably damaging	Het
Ccdc54	T	C	16: 50,410,844 (GRCm39)	T141A	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdh5	T	C	8: 104,856,033 (GRCm39)		probably null	Het
Cdkl3	T	C	11: 51,918,009 (GRCm39)	V404A	not run	Het
Chrm2	A	T	6: 36,500,184 (GRCm39)	I14F	probably benign	Het
Cnbp	T	C	6: 87,822,258 (GRCm39)	K89E	possibly damaging	Het
Cntn6	T	A	6: 104,627,444 (GRCm39)	D92E	probably benign	Het
Col15a1	T	C	4: 47,245,591 (GRCm39)	F114S	possibly damaging	Het
Csrnp1	A	G	9: 119,801,469 (GRCm39)	F530S	probably benign	Het
Dcun1d3	C	T	7: 119,456,891 (GRCm39)	V274M	probably damaging	Het
Dph2	T	A	4: 117,747,478 (GRCm39)	H302L	possibly damaging	Het
Fam162a	A	T	16: 35,866,770 (GRCm39)	Y118*	probably null	Het
Fam186a	A	G	15: 99,837,725 (GRCm39)	Y2840H	unknown	Het
Fto	A	G	8: 92,392,950 (GRCm39)	K466E	probably benign	Het
Gal	T	A	19: 3,463,309 (GRCm39)	Y41F	probably damaging	Het
Gigyf2	A	T	1: 87,346,860 (GRCm39)	L620F	unknown	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Glud1	A	T	14: 34,033,114 (GRCm39)	E87V	probably benign	Het
Gm21190	T	G	5: 15,732,923 (GRCm39)	E94A	possibly damaging	Het
Gm5592	T	C	7: 40,938,134 (GRCm39)	V472A	probably benign	Het
Gpc5	T	A	14: 115,665,620 (GRCm39)	N481K	possibly damaging	Het
Gpn2	A	G	4: 133,318,687 (GRCm39)	E304G	probably benign	Het
Gsdmc2	T	C	15: 63,696,903 (GRCm39)	T423A	probably damaging	Het
Gucy2e	G	A	11: 69,117,055 (GRCm39)	Q789*	probably null	Het
Gxylt2	T	A	6: 100,760,104 (GRCm39)	V213E	probably damaging	Het
Ighv1-75	G	A	12: 115,797,731 (GRCm39)	L64F	possibly damaging	Het
Il17re	T	C	6: 113,435,943 (GRCm39)	C30R	probably benign	Het
Il7	G	T	3: 7,669,142 (GRCm39)	D31E	probably benign	Het
Ints4	T	C	7: 97,178,460 (GRCm39)	Y687H	possibly damaging	Het
Kdelr1	T	G	7: 45,532,401 (GRCm39)	V202G	probably benign	Het
Khnyn	C	A	14: 56,124,596 (GRCm39)	Y283*	probably null	Het
Klf11	T	C	12: 24,703,670 (GRCm39)	V52A	probably damaging	Het
Klhl7	A	G	5: 24,346,284 (GRCm39)	N310S	probably benign	Het
Krt27	A	T	11: 99,240,312 (GRCm39)	L202Q	possibly damaging	Het
Lce1d	A	G	3: 92,593,354 (GRCm39)	C20R	unknown	Het
Lim2	A	T	7: 43,083,054 (GRCm39)	I80F	possibly damaging	Het
Lrrk2	T	A	15: 91,584,561 (GRCm39)	F326Y	possibly damaging	Het
Lyst	A	T	13: 13,905,061 (GRCm39)	Y3246F	possibly damaging	Het
Mafb	T	A	2: 160,208,355 (GRCm39)	H81L	possibly damaging	Het
Mfsd5	G	A	15: 102,189,312 (GRCm39)	R228H	probably benign	Het
Mmp1b	A	T	9: 7,386,675 (GRCm39)	F150I	possibly damaging	Het
Mthfd1	T	A	12: 76,317,209 (GRCm39)	L20Q	probably damaging	Het
Mxra8	A	G	4: 155,927,420 (GRCm39)	T402A	probably benign	Het
Ndc80	A	T	17: 71,815,658 (GRCm39)	L376M	probably damaging	Het
Nsd1	A	T	13: 55,425,452 (GRCm39)	R1536S	probably damaging	Het
Nup210l	C	A	3: 90,119,300 (GRCm39)	H1874Q	probably benign	Het
Nyap1	T	C	5: 137,731,236 (GRCm39)	H776R	probably benign	Het
Patj	C	A	4: 98,576,416 (GRCm39)	H1773Q	probably damaging	Het
Pax8	T	A	2: 24,326,523 (GRCm39)	T280S	probably benign	Het
Pcdhb19	A	G	18: 37,632,034 (GRCm39)	T610A	probably damaging	Het
Pde2a	A	G	7: 101,160,788 (GRCm39)	D919G	possibly damaging	Het
Pdk2	T	A	11: 94,919,791 (GRCm39)	Y240F	probably damaging	Het
Peg3	A	T	7: 6,712,609 (GRCm39)	I871N	probably damaging	Het
Pex1	A	T	5: 3,646,244 (GRCm39)		probably benign	Het
Pgm2l1	C	T	7: 99,899,535 (GRCm39)	R50W	probably damaging	Het
Phkg1	T	A	5: 129,894,764 (GRCm39)	K262N	probably damaging	Het
Pik3r4	A	G	9: 105,521,710 (GRCm39)	E92G	probably damaging	Het
Prmt6	A	T	3: 110,157,701 (GRCm39)	V196E	possibly damaging	Het
Ptprn2	T	G	12: 116,685,739 (GRCm39)	M66R	probably benign	Het
Rai14	C	T	15: 10,593,189 (GRCm39)	G152R	probably damaging	Het
Recql5	A	T	11: 115,814,102 (GRCm39)	S348T	probably damaging	Het
Rfk	T	G	19: 17,376,046 (GRCm39)		probably null	Het
Ro60	T	C	1: 143,646,611 (GRCm39)	T45A	probably damaging	Het
Selenbp1	A	T	3: 94,851,413 (GRCm39)	M389L	probably benign	Het
Sipa1l2	G	A	8: 126,219,029 (GRCm39)	R103C	probably benign	Het
Slc10a6	T	A	5: 103,777,056 (GRCm39)	S15C	probably damaging	Het
Slc12a2	G	T	18: 58,065,596 (GRCm39)	V944L	probably benign	Het
Slc16a11	T	A	11: 70,106,143 (GRCm39)	L127Q	possibly damaging	Het
Spef1l	T	C	7: 139,556,531 (GRCm39)	N152S	probably benign	Het
St6gal1	A	G	16: 23,174,978 (GRCm39)	Y272C	probably damaging	Het
Stab2	C	A	10: 86,816,999 (GRCm39)	V133F	probably benign	Het
Stradb	G	A	1: 59,031,885 (GRCm39)	V266I	probably damaging	Het
Tmem150b	A	G	7: 4,723,758 (GRCm39)	W140R	probably benign	Het
Tnnt3	A	T	7: 142,065,833 (GRCm39)	K157*	probably null	Het
Ttn	T	G	2: 76,554,113 (GRCm39)	K30863N	probably damaging	Het
Vldlr	G	A	19: 27,220,536 (GRCm39)	R592H	probably benign	Het
Vmn1r12	A	T	6: 57,135,883 (GRCm39)		probably benign	Het
Vmn2r63	A	C	7: 42,574,693 (GRCm39)	S519R	probably damaging	Het
Zbtb22	G	C	17: 34,137,471 (GRCm39)	E539Q	probably damaging	Het
Zbtb44	G	A	9: 30,965,375 (GRCm39)	A262T	probably benign	Het
Zfp280d	A	T	9: 72,231,354 (GRCm39)	N455I	probably damaging	Het
Zfp287	T	C	11: 62,616,089 (GRCm39)	N201D	probably damaging	Het
Zfp988	T	C	4: 147,416,751 (GRCm39)	L395P	probably 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
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
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'- GCCACATTCCAGGAACTAGC -3'
(R):5'- CATGGATTGTACAGGGAGCTG -3'

Sequencing Primer
(F):5'- ATTCCAGGAACTAGCCCTTCC -3'
(R):5'- AGTAGGGCTCTTCCTGCTCTG -3'

Posted On

2019-11-12