Mutagenetix > Incidental Mutation

Incidental Mutation 'R7561:Adcy9'

585156

Institutional Source

Beutler Lab

Gene Symbol

Adcy9

Ensembl Gene

ENSMUSG00000005580

Gene Name

adenylate cyclase 9

Synonyms

ACtp10, D16Wsu65e

MMRRC Submission

045654-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R7561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4105393-4238362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4236028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 461 (C461Y)

Ref Sequence

ENSEMBL: ENSMUSP00000005719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005719] [ENSMUST00000117801] [ENSMUST00000120080]

AlphaFold

P51830

Predicted Effect

probably damaging
Transcript: ENSMUST00000005719
AA Change: C461Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: C461Y

Domain	Start	End	E-Value	Type
low complexity region	6	13	N/A	INTRINSIC
low complexity region	49	75	N/A	INTRINSIC
transmembrane domain	118	137	N/A	INTRINSIC
transmembrane domain	142	164	N/A	INTRINSIC
transmembrane domain	177	196	N/A	INTRINSIC
transmembrane domain	216	235	N/A	INTRINSIC
transmembrane domain	242	261	N/A	INTRINSIC
transmembrane domain	281	300	N/A	INTRINSIC
CYCc	325	547	1.69e-63	SMART
transmembrane domain	791	813	N/A	INTRINSIC
transmembrane domain	823	845	N/A	INTRINSIC
transmembrane domain	858	880	N/A	INTRINSIC
transmembrane domain	890	912	N/A	INTRINSIC
transmembrane domain	977	996	N/A	INTRINSIC
CYCc	1023	1227	1.26e-39	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000117801
AA Change: C461Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: C461Y

Domain	Start	End	E-Value	Type
low complexity region	6	13	N/A	INTRINSIC
low complexity region	49	75	N/A	INTRINSIC
transmembrane domain	118	137	N/A	INTRINSIC
transmembrane domain	142	164	N/A	INTRINSIC
transmembrane domain	177	196	N/A	INTRINSIC
transmembrane domain	216	235	N/A	INTRINSIC
transmembrane domain	242	261	N/A	INTRINSIC
transmembrane domain	281	300	N/A	INTRINSIC
CYCc	325	547	1.69e-63	SMART
transmembrane domain	791	813	N/A	INTRINSIC
transmembrane domain	823	845	N/A	INTRINSIC
transmembrane domain	858	880	N/A	INTRINSIC
transmembrane domain	890	912	N/A	INTRINSIC
transmembrane domain	977	996	N/A	INTRINSIC
CYCc	1023	1227	1.26e-39	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120080
AA Change: C224Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: C224Y

Domain	Start	End	E-Value	Type
transmembrane domain	5	24	N/A	INTRINSIC
transmembrane domain	44	63	N/A	INTRINSIC
CYCc	88	310	1.69e-63	SMART
transmembrane domain	554	576	N/A	INTRINSIC
transmembrane domain	586	608	N/A	INTRINSIC
transmembrane domain	621	643	N/A	INTRINSIC
transmembrane domain	653	675	N/A	INTRINSIC
transmembrane domain	740	759	N/A	INTRINSIC
CYCc	786	990	1.26e-39	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene show an increased IgG1 response to ovalbumin challenge. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,341,314 (GRCm39)	N314K	probably benign	Het
A430005L14Rik	T	A	4: 154,045,097 (GRCm39)	I80N	probably benign	Het
Abca2	A	G	2: 25,336,707 (GRCm39)	H2271R	probably damaging	Het
Acad8	T	C	9: 26,890,538 (GRCm39)	I257V	probably benign	Het
Acot12	A	T	13: 91,918,243 (GRCm39)	T179S	probably damaging	Het
Adcy10	A	G	1: 165,386,741 (GRCm39)	R1155G	possibly damaging	Het
Adgrf1	G	A	17: 43,622,000 (GRCm39)	V746I	possibly damaging	Het
Agbl1	C	A	7: 76,348,509 (GRCm39)	Q869K	unknown	Het
AI837181	T	G	19: 5,476,491 (GRCm39)	V218G	probably damaging	Het
Alg9	T	C	9: 50,754,074 (GRCm39)	S585P	possibly damaging	Het
Arhgef38	T	C	3: 132,866,489 (GRCm39)	Q216R		Het
Asb4	A	T	6: 5,430,968 (GRCm39)	H401L	possibly damaging	Het
Atg7	G	T	6: 114,650,002 (GRCm39)	A60S	possibly damaging	Het
Atp10a	T	A	7: 58,476,881 (GRCm39)	C1199S	probably damaging	Het
Blm	G	A	7: 80,152,276 (GRCm39)	A557V	probably damaging	Het
Cbln1	A	T	8: 88,198,624 (GRCm39)	M82K	probably benign	Het
Ccdc183	T	G	2: 25,501,529 (GRCm39)	I293L	probably benign	Het
Col6a3	A	G	1: 90,703,463 (GRCm39)	S3035P	unknown	Het
Cux2	A	T	5: 122,017,931 (GRCm39)	S206T	probably benign	Het
Cyfip2	T	C	11: 46,161,425 (GRCm39)	D355G	probably benign	Het
Dhrs2	A	G	14: 55,474,698 (GRCm39)	H111R	probably benign	Het
Eif3b	T	G	5: 140,428,109 (GRCm39)	D781E	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fermt1	A	T	2: 132,758,008 (GRCm39)	I469N	probably benign	Het
Fgf20	G	T	8: 40,732,975 (GRCm39)	N154K	possibly damaging	Het
Fndc10	T	A	4: 155,779,328 (GRCm39)	V124E	probably damaging	Het
Fra10ac1	T	C	19: 38,210,324 (GRCm39)	D13G	probably damaging	Het
Gpatch1	A	G	7: 35,008,800 (GRCm39)	S74P	probably damaging	Het
Gramd1b	G	A	9: 40,312,911 (GRCm39)	T19I	unknown	Het
Grm8	T	C	6: 27,429,524 (GRCm39)	T457A	probably benign	Het
Gucy2g	C	A	19: 55,194,772 (GRCm39)	V882L	probably benign	Het
Hectd4	G	A	5: 121,429,288 (GRCm39)	R811H	possibly damaging	Het
Hk1	C	T	10: 62,116,807 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il10ra	T	A	9: 45,167,117 (GRCm39)	D480V	probably benign	Het
Il18rap	A	T	1: 40,563,537 (GRCm39)	H22L	probably benign	Het
Inpp5a	T	A	7: 139,147,338 (GRCm39)	I321N	probably damaging	Het
Insyn1	A	G	9: 58,406,687 (GRCm39)	D199G	probably damaging	Het
Kat2b	T	G	17: 53,948,286 (GRCm39)	L352R	probably benign	Het
Katnip	C	T	7: 125,441,894 (GRCm39)	S627L	probably benign	Het
Kcna1	A	T	6: 126,619,108 (GRCm39)	V404E	probably damaging	Het
Mcm3ap	T	A	10: 76,328,712 (GRCm39)	V1110E	possibly damaging	Het
Moxd2	C	T	6: 40,864,337 (GRCm39)	R31H	probably damaging	Het
Mpdz	A	T	4: 81,225,388 (GRCm39)	N1368K	probably damaging	Het
Mpzl3	G	T	9: 44,966,610 (GRCm39)	V24F	probably benign	Het
Mybph	G	A	1: 134,121,465 (GRCm39)		probably null	Het
Ncam1	G	T	9: 49,476,242 (GRCm39)	D282E	probably damaging	Het
Ntrk2	G	A	13: 59,009,202 (GRCm39)	C331Y	probably benign	Het
Nwd2	T	A	5: 63,964,434 (GRCm39)	C1339*	probably null	Het
Or3a1d	T	C	11: 74,238,436 (GRCm39)		probably benign	Het
Or5b98	T	C	19: 12,931,403 (GRCm39)	V150A	probably benign	Het
Or8k33	T	C	2: 86,383,661 (GRCm39)	D269G	probably benign	Het
Osbpl6	C	A	2: 76,416,498 (GRCm39)	T672N	probably damaging	Het
Pds5b	T	C	5: 150,662,783 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,217 (GRCm39)	N587S	probably benign	Het
Pex7	A	T	10: 19,770,012 (GRCm39)	C165*	probably null	Het
Pik3r4	A	G	9: 105,564,446 (GRCm39)	T1347A	possibly damaging	Het
Pitpnm3	T	C	11: 71,942,008 (GRCm39)	D933G	probably benign	Het
Rnf213	T	A	11: 119,332,545 (GRCm39)	F2586I		Het
Scn10a	A	G	9: 119,523,390 (GRCm39)	M1T	probably null	Het
Sdhaf3	T	A	6: 6,956,079 (GRCm39)	L18Q	not run	Het
Septin7	A	G	9: 25,209,151 (GRCm39)	E256G	possibly damaging	Het
Slc35b2	A	G	17: 45,877,727 (GRCm39)	T236A	probably damaging	Het
Slc4a4	G	A	5: 89,347,556 (GRCm39)	G766R	probably damaging	Het
Slco6c1	G	T	1: 97,000,691 (GRCm39)	S537Y	probably damaging	Het
Srp68	T	C	11: 116,139,593 (GRCm39)	E452G	probably damaging	Het
Taf2	A	T	15: 54,919,229 (GRCm39)	M382K	probably benign	Het
Tas2r131	A	G	6: 132,933,921 (GRCm39)	L296P	probably benign	Het
Tlr9	A	G	9: 106,103,148 (GRCm39)	E813G	probably benign	Het
Trmt44	T	C	5: 35,715,336 (GRCm39)	E659G	possibly damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Unc45a	G	T	7: 79,981,334 (GRCm39)	S489R	possibly damaging	Het
Xrn1	T	C	9: 95,881,511 (GRCm39)	V795A	probably benign	Het
Zbtb22	A	T	17: 34,136,952 (GRCm39)	T366S	probably benign	Het
Zcchc10	T	A	11: 53,215,545 (GRCm39)	H6Q	probably benign	Het
Zfp60	A	G	7: 27,447,955 (GRCm39)	K208E	probably damaging	Het
Zfp780b	A	T	7: 27,664,037 (GRCm39)	C173S	possibly damaging	Het
Zfp786	C	A	6: 47,796,667 (GRCm39)	R757L	probably benign	Het
Zfp936	G	A	7: 42,839,339 (GRCm39)	A269T	probably damaging	Het
Zfp976	T	C	7: 42,265,701 (GRCm39)	Y29C	probably damaging	Het

Other mutations in Adcy9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Adcy9	APN	16	4,122,446 (GRCm39)	missense	probably benign
IGL00326:Adcy9	APN	16	4,112,560 (GRCm39)	missense	probably benign
IGL00792:Adcy9	APN	16	4,106,403 (GRCm39)	missense	probably damaging	1.00
IGL01610:Adcy9	APN	16	4,235,978 (GRCm39)	missense	probably damaging	1.00
IGL02376:Adcy9	APN	16	4,236,544 (GRCm39)	missense	probably benign	0.01
IGL02424:Adcy9	APN	16	4,106,461 (GRCm39)	missense	probably damaging	1.00
IGL03097:Adcy9	UTSW	16	4,235,930 (GRCm39)	missense	possibly damaging	0.94
PIT4243001:Adcy9	UTSW	16	4,236,271 (GRCm39)	missense	probably damaging	1.00
R0043:Adcy9	UTSW	16	4,106,879 (GRCm39)	missense	probably benign	0.12
R0085:Adcy9	UTSW	16	4,106,088 (GRCm39)	missense	probably benign
R0105:Adcy9	UTSW	16	4,106,252 (GRCm39)	missense	probably damaging	1.00
R0105:Adcy9	UTSW	16	4,106,252 (GRCm39)	missense	probably damaging	1.00
R0371:Adcy9	UTSW	16	4,105,911 (GRCm39)	missense	probably benign	0.06
R0613:Adcy9	UTSW	16	4,237,403 (GRCm39)	missense	probably damaging	1.00
R0689:Adcy9	UTSW	16	4,130,668 (GRCm39)	splice site	probably benign
R0744:Adcy9	UTSW	16	4,237,135 (GRCm39)	missense	possibly damaging	0.69
R0836:Adcy9	UTSW	16	4,237,135 (GRCm39)	missense	possibly damaging	0.69
R1223:Adcy9	UTSW	16	4,116,612 (GRCm39)	missense	probably damaging	1.00
R1251:Adcy9	UTSW	16	4,129,395 (GRCm39)	missense	probably damaging	0.99
R1689:Adcy9	UTSW	16	4,115,426 (GRCm39)	splice site	probably null
R1922:Adcy9	UTSW	16	4,129,521 (GRCm39)	missense	probably damaging	1.00
R1955:Adcy9	UTSW	16	4,236,523 (GRCm39)	missense	possibly damaging	0.63
R1989:Adcy9	UTSW	16	4,116,591 (GRCm39)	missense	probably damaging	1.00
R1998:Adcy9	UTSW	16	4,115,276 (GRCm39)	missense	probably benign	0.00
R2321:Adcy9	UTSW	16	4,106,132 (GRCm39)	missense	probably damaging	1.00
R3160:Adcy9	UTSW	16	4,129,452 (GRCm39)	missense	probably damaging	1.00
R3161:Adcy9	UTSW	16	4,129,452 (GRCm39)	missense	probably damaging	1.00
R3162:Adcy9	UTSW	16	4,129,452 (GRCm39)	missense	probably damaging	1.00
R3162:Adcy9	UTSW	16	4,129,452 (GRCm39)	missense	probably damaging	1.00
R4065:Adcy9	UTSW	16	4,106,298 (GRCm39)	missense	probably damaging	1.00
R4909:Adcy9	UTSW	16	4,116,618 (GRCm39)	missense	probably benign	0.03
R5078:Adcy9	UTSW	16	4,141,771 (GRCm39)	missense	probably benign	0.00
R5870:Adcy9	UTSW	16	4,236,232 (GRCm39)	missense	probably damaging	1.00
R5968:Adcy9	UTSW	16	4,116,606 (GRCm39)	missense	probably damaging	1.00
R5975:Adcy9	UTSW	16	4,129,431 (GRCm39)	missense	probably damaging	0.98
R6014:Adcy9	UTSW	16	4,236,683 (GRCm39)	missense	probably damaging	1.00
R6035:Adcy9	UTSW	16	4,122,377 (GRCm39)	missense	probably benign
R6035:Adcy9	UTSW	16	4,122,377 (GRCm39)	missense	probably benign
R6081:Adcy9	UTSW	16	4,112,545 (GRCm39)	missense	probably benign
R6192:Adcy9	UTSW	16	4,105,818 (GRCm39)	missense	probably benign
R6604:Adcy9	UTSW	16	4,122,271 (GRCm39)	missense	probably damaging	0.98
R6739:Adcy9	UTSW	16	4,236,658 (GRCm39)	missense	probably benign
R6829:Adcy9	UTSW	16	4,125,018 (GRCm39)	critical splice donor site	probably null
R6986:Adcy9	UTSW	16	4,129,441 (GRCm39)	missense	probably damaging	0.99
R7491:Adcy9	UTSW	16	4,236,673 (GRCm39)	missense	possibly damaging	0.51
R7614:Adcy9	UTSW	16	4,236,088 (GRCm39)	missense	probably damaging	1.00
R7803:Adcy9	UTSW	16	4,122,244 (GRCm39)	missense	probably benign	0.11
R7993:Adcy9	UTSW	16	4,235,866 (GRCm39)	missense	probably damaging	1.00
R8444:Adcy9	UTSW	16	4,106,487 (GRCm39)	missense	probably damaging	1.00
R8519:Adcy9	UTSW	16	4,105,992 (GRCm39)	missense	possibly damaging	0.57
R8546:Adcy9	UTSW	16	4,236,769 (GRCm39)	missense	probably benign	0.02
R8751:Adcy9	UTSW	16	4,129,492 (GRCm39)	missense	probably damaging	0.97
R9004:Adcy9	UTSW	16	4,106,378 (GRCm39)	missense	probably damaging	1.00
R9076:Adcy9	UTSW	16	4,106,687 (GRCm39)	missense	probably damaging	1.00
R9351:Adcy9	UTSW	16	4,236,228 (GRCm39)	missense	probably damaging	1.00
R9491:Adcy9	UTSW	16	4,236,052 (GRCm39)	missense	probably damaging	1.00
R9571:Adcy9	UTSW	16	4,141,653 (GRCm39)	missense	probably benign	0.14
R9614:Adcy9	UTSW	16	4,106,547 (GRCm39)	missense	probably damaging	1.00
X0023:Adcy9	UTSW	16	4,141,780 (GRCm39)	missense	probably benign	0.00
Z1176:Adcy9	UTSW	16	4,125,096 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTCAGATATGTGAACTTTGCC -3'
(R):5'- TGGGTTTCACCAAGATGAGC -3'

Sequencing Primer
(F):5'- AGCTGCTCCATGAGATTAGC -3'
(R):5'- GATGAGCGCCAACAAATCTG -3'

Posted On

2019-10-17