Mutagenetix > Incidental Mutation

Incidental Mutation 'R5968:Adcy9'

470712

Institutional Source

Beutler Lab

Gene Symbol

Adcy9

Ensembl Gene

ENSMUSG00000005580

Gene Name

adenylate cyclase 9

Synonyms

ACtp10, D16Wsu65e

MMRRC Submission

043249-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.527) question?

Stock #

R5968 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4105393-4238362 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4116606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 638 (L638P)

Ref Sequence

ENSEMBL: ENSMUSP00000113421 (fasta)

Gene Model

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

AlphaFold

P51830

Predicted Effect

probably damaging
Transcript: ENSMUST00000005719
AA Change: L875P

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

SMART Domains

Protein: ENSMUSP00000005719
Gene: ENSMUSG00000005580
AA Change: L875P

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: L875P

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

SMART Domains

Protein: ENSMUSP00000113498
Gene: ENSMUSG00000005580
AA Change: L875P

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: L638P

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

SMART Domains

Protein: ENSMUSP00000113421
Gene: ENSMUSG00000005580
AA Change: L638P

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.8%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,077 (GRCm39)	T978A	probably benign	Het
Adgrf2	A	G	17: 43,026,063 (GRCm39)		probably null	Het
Anxa6	T	C	11: 54,885,167 (GRCm39)	I461V	probably damaging	Het
Arap1	T	C	7: 101,043,945 (GRCm39)	L668P	probably damaging	Het
Ces2e	G	T	8: 105,659,627 (GRCm39)	G498W	probably damaging	Het
Crb1	A	G	1: 139,170,739 (GRCm39)	C823R	probably damaging	Het
Ehmt1	C	T	2: 24,726,469 (GRCm39)	R772H	probably damaging	Het
Enpep	A	G	3: 129,074,587 (GRCm39)	L721S	probably benign	Het
Flii	T	G	11: 60,611,038 (GRCm39)	I464L	probably benign	Het
Gm57858	T	C	3: 36,064,840 (GRCm39)	Q511R	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Ift172	T	C	5: 31,418,828 (GRCm39)	E1162G	probably damaging	Het
Meioc	A	G	11: 102,566,657 (GRCm39)	S758G	probably damaging	Het
Ndst1	A	C	18: 60,846,148 (GRCm39)	S54A	probably benign	Het
Ndufaf8	G	T	11: 119,990,055 (GRCm39)	E56*	probably null	Het
Ndufb7	A	G	8: 84,293,530 (GRCm39)	D28G	probably benign	Het
Or1e16	T	C	11: 73,286,018 (GRCm39)	M277V	possibly damaging	Het
Or2a25	A	G	6: 42,888,480 (GRCm39)	I8V	probably benign	Het
Prkg1	A	T	19: 30,570,324 (GRCm39)	F443I	probably damaging	Het
Pspc1	C	T	14: 57,001,693 (GRCm39)	R227H	probably benign	Het
Ptpn21	A	G	12: 98,677,149 (GRCm39)	Y120H	probably damaging	Het
Runx1t1	A	T	4: 13,841,890 (GRCm39)		probably null	Het
Ryr3	T	C	2: 112,477,394 (GRCm39)	D4449G	probably benign	Het
Sacs	C	A	14: 61,427,078 (GRCm39)	A159E	probably damaging	Het
Slc16a14	T	C	1: 84,890,226 (GRCm39)	I360V	possibly damaging	Het
Tcstv5	T	C	13: 120,411,618 (GRCm39)		probably benign	Het
Thop1	A	G	10: 80,911,393 (GRCm39)	D93G	probably benign	Het
Tmem92	A	C	11: 94,669,564 (GRCm39)	M85R	probably benign	Het
Ttn	T	C	2: 76,688,017 (GRCm39)		probably benign	Het
Zdhhc5	T	C	2: 84,524,719 (GRCm39)		probably null	Het
Zfp335	T	C	2: 164,734,314 (GRCm39)	H1291R	probably damaging	Het
Zfp957	C	T	14: 79,451,496 (GRCm39)	C101Y	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
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
R7561:Adcy9	UTSW	16	4,236,028 (GRCm39)	missense	probably damaging	1.00
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'- GAGCAGTAACAGAGAGTACCTC -3'
(R):5'- GTGAAGCTCTGTGTATGGCC -3'

Sequencing Primer
(F):5'- TTTAGCCCTACCCCAAGT -3'
(R):5'- AAGCTCTGTGTATGGCCAGTTG -3'

Posted On

2017-03-31