Mutagenetix > Incidental Mutation

Incidental Mutation 'R0554:Adcy10'

45318

Institutional Source

Beutler Lab

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

sAC, Sacy, soluble adenylyl cyclase

MMRRC Submission

038746-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

R0554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165485183-165576774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 165513130 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 235 (G235S)

Ref Sequence

ENSEMBL: ENSMUSP00000137959 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027852] [ENSMUST00000111439] [ENSMUST00000111440] [ENSMUST00000148550] [ENSMUST00000155216]

AlphaFold

Q8C0T9

Predicted Effect

probably benign
Transcript: ENSMUST00000027852
AA Change: G235S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: G235S

Domain	Start	End	E-Value	Type
CYCc	7	206	3.27e-3	SMART
Pfam:Guanylate_cyc	285	442	2.3e-12	PFAM
low complexity region	838	847	N/A	INTRINSIC
low complexity region	899	922	N/A	INTRINSIC
low complexity region	1149	1164	N/A	INTRINSIC
Blast:TPR	1295	1328	6e-9	BLAST
Blast:TPR	1510	1543	6e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000111439
AA Change: G235S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: G235S

Domain	Start	End	E-Value	Type
CYCc	7	206	3.27e-3	SMART
Pfam:Guanylate_cyc	286	420	1.9e-12	PFAM
low complexity region	838	847	N/A	INTRINSIC
low complexity region	899	922	N/A	INTRINSIC
low complexity region	1149	1164	N/A	INTRINSIC
Blast:TPR	1295	1328	6e-9	BLAST
Blast:TPR	1510	1543	7e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000111440
AA Change: G235S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: G235S

Domain	Start	End	E-Value	Type
CYCc	7	206	3.27e-3	SMART
Pfam:Guanylate_cyc	286	420	1.9e-12	PFAM
low complexity region	838	847	N/A	INTRINSIC
low complexity region	899	922	N/A	INTRINSIC
low complexity region	1149	1164	N/A	INTRINSIC
Blast:TPR	1295	1328	6e-9	BLAST
Blast:TPR	1510	1543	7e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000148550
AA Change: G235S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
AA Change: G235S

Domain	Start	End	E-Value	Type
CYCc	7	206	3.27e-3	SMART
Pfam:Guanylate_cyc	285	420	4.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000155216

SMART Domains

Protein: ENSMUSP00000137744
Gene: ENSMUSG00000026567

Domain	Start	End	E-Value	Type
PDB:4OZ3\|A	1	98	2e-51	PDB
Blast:CYCc	7	98	2e-61	BLAST
SCOP:d1azsb_	43	98	9e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195194

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a distinct class of adenylyl cyclases that is soluble and insensitive to G protein or forskolin regulation. Activity of this protein is regulated by bicarbonate. Variation at this gene has been observed in patients with absorptive hypercalciuria. Alternatively spliced transcript variants encoding different isoforms have been observed. There is a pseudogene of this gene on chromosome 6. [provided by RefSeq, Jul 2014]
PHENOTYPE: Homozygous null male mutants are infertile with a severe sperm motility defect, female null mutants are fertile. Females exhibit increased cholesterol and triglyceride levels while both sexes have a slight increase in heart rate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 99 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	A	5: 145,045,371	Y255*	probably null	Het
1810024B03Rik	A	G	2: 127,187,276	M1T	probably null	Het
4930503L19Rik	T	C	18: 70,467,380	D386G	probably damaging	Het
Ace2	T	A	X: 164,175,951	N601K	probably benign	Het
Adam4	A	C	12: 81,421,424	I141R	probably damaging	Het
Adcy5	G	A	16: 35,294,017	V997I	probably benign	Het
Aff2	T	G	X: 69,864,074	W1221G	possibly damaging	Het
Ankrd44	T	C	1: 54,763,758	N194D	probably benign	Het
Apba2	T	G	7: 64,745,780	L668R	probably damaging	Het
Asph	T	C	4: 9,604,581	D152G	probably damaging	Het
Bcl3	C	G	7: 19,820,066	V126L	probably benign	Het
Cd163	A	G	6: 124,312,660	T446A	probably benign	Het
Cd209g	C	T	8: 4,134,995		probably benign	Het
Cdadc1	A	T	14: 59,586,452	V197E	probably damaging	Het
CN725425	T	C	15: 91,260,763	C610R	possibly damaging	Het
Col6a2	A	G	10: 76,611,161		probably null	Het
Coro7	A	G	16: 4,632,257	L576P	possibly damaging	Het
Dgkb	T	A	12: 38,216,031	V503E	probably benign	Het
Dhx57	A	T	17: 80,260,236	L806*	probably null	Het
Dlec1	T	C	9: 119,115,002	V373A	probably benign	Het
Dnah11	G	T	12: 117,931,178	R3645S	probably benign	Het
Dnhd1	T	C	7: 105,694,395	S1649P	probably benign	Het
Draxin	T	G	4: 148,107,963	K297N	probably damaging	Het
Epha7	T	C	4: 28,951,401	S841P	probably damaging	Het
Esp8	T	G	17: 40,530,275	D142E	unknown	Het
F5	T	G	1: 164,179,449	V274G	probably damaging	Het
Fancc	T	C	13: 63,317,469	S475G	probably benign	Het
Fmo3	T	C	1: 162,954,332	N484S	probably benign	Het
Focad	T	C	4: 88,348,889	Y1046H	unknown	Het
Furin	C	T	7: 80,391,284	G602D	probably damaging	Het
Fut8	A	T	12: 77,364,970	I69L	probably benign	Het
Gm10436	T	C	12: 88,177,558	T162A	probably benign	Het
Gm4951	G	A	18: 60,245,417	R8H	probably benign	Het
Gnai3	A	G	3: 108,123,612	I78T	probably benign	Het
Gpr182	T	C	10: 127,751,071	I4V	probably benign	Het
Gpr63	T	C	4: 25,007,447	M57T	probably benign	Het
Grm1	T	A	10: 10,719,923	T654S	probably benign	Het
Gtf2h4	T	C	17: 35,668,639	T371A	probably benign	Het
Helq	T	C	5: 100,790,200	N460S	probably benign	Het
Hmcn1	T	C	1: 150,719,117	N1867S	probably benign	Het
Hsh2d	G	A	8: 72,200,460	D229N	probably benign	Het
Inpp5j	A	G	11: 3,499,644	Y713H	probably damaging	Het
Ints6	A	T	14: 62,704,751	V511D	possibly damaging	Het
Itga4	A	G	2: 79,279,117	Y220C	probably damaging	Het
Itgav	T	G	2: 83,794,270	S735A	possibly damaging	Het
Kctd16	A	G	18: 40,258,439	I27V	probably benign	Het
Klhl6	T	C	16: 19,953,593	E334G	probably damaging	Het
Lrmp	G	A	6: 145,165,287	A237T	probably benign	Het
Ltbp1	T	A	17: 75,225,279	L116H	probably damaging	Het
Magohb	T	A	6: 131,285,697	H98L	probably benign	Het
Mgat2	A	G	12: 69,185,392	T247A	probably benign	Het
Mtif2	G	A	11: 29,533,398		probably null	Het
Myrfl	T	C	10: 116,828,973	E384G	probably damaging	Het
Nfam1	G	T	15: 83,033,209	R8S	probably benign	Het
Numa1	T	C	7: 101,995,524	S236P	possibly damaging	Het
Olfr1022	T	C	2: 85,869,519	F309S	probably benign	Het
Olfr310	A	T	7: 86,269,657	I44N	probably damaging	Het
Olfr317	T	C	11: 58,733,039	N42S	probably damaging	Het
Olfr777	T	C	10: 129,268,499	T275A	probably benign	Het
Orc4	C	T	2: 48,905,421	S431N	probably benign	Het
Pax2	T	C	19: 44,761,861	V129A	probably damaging	Het
Pcdhb15	A	G	18: 37,474,519	D268G	probably damaging	Het
Pdcd1	G	A	1: 94,039,382	R264C	probably damaging	Het
Pi15	T	A	1: 17,621,648	M187K	probably benign	Het
Plag1	C	T	4: 3,904,546	C215Y	probably damaging	Het
Plagl1	A	G	10: 13,127,182	T65A	probably benign	Het
Prss48	T	A	3: 86,000,921	Q18L	probably benign	Het
Prune2	T	A	19: 17,125,218	C2580*	probably null	Het
Rab40b	T	A	11: 121,359,606	Q74L	probably damaging	Het
Raf1	A	G	6: 115,623,530	I376T	probably benign	Het
Rbm46	A	T	3: 82,865,268	F186I	probably damaging	Het
Reps1	C	T	10: 18,123,119	T720M	possibly damaging	Het
Rgs22	A	G	15: 36,054,709	M649T	probably benign	Het
Rhot1	C	T	11: 80,243,438	R47*	probably null	Het
Rhox2f	A	G	X: 37,571,471	Y8C	possibly damaging	Het
Rnf17	A	G	14: 56,522,550	Y1604C	probably damaging	Het
Rnf40	T	C	7: 127,602,584	C943R	probably damaging	Het
Ropn1l	A	T	15: 31,451,149	M63K	probably benign	Het
Sbf2	C	A	7: 110,428,287	V501F	probably damaging	Het
Sh3bp1	T	A	15: 78,907,267	M354K	probably damaging	Het
Sipa1l3	T	C	7: 29,388,030	H590R	possibly damaging	Het
Slco6d1	T	A	1: 98,466,697	C369S	probably benign	Het
Sulf1	T	C	1: 12,805,194	Y143H	probably damaging	Het
Tiam2	A	T	17: 3,438,681	R755*	probably null	Het
Trim12c	C	A	7: 104,344,962	L228F	probably damaging	Het
Ttc23l	G	T	15: 10,530,657	Q290K	probably benign	Het
Uba3	T	C	6: 97,191,260		probably null	Het
Ugt1a10	A	G	1: 88,056,095	E205G	probably damaging	Het
Ugt3a2	T	A	15: 9,351,120	S72T	probably benign	Het
Upk3bl	C	T	5: 136,059,794	T113I	probably damaging	Het
Uspl1	T	A	5: 149,187,834	D20E	probably damaging	Het
Vmn2r19	G	A	6: 123,336,143	G724E	probably damaging	Het
Vmn2r63	T	A	7: 42,933,705	K29*	probably null	Het
Vwf	C	T	6: 125,642,781	A1474V	probably benign	Het
Xpc	C	T	6: 91,491,226	A860T	probably benign	Het
Zfp462	A	G	4: 55,013,689	H737R	probably damaging	Het
Zfp536	T	C	7: 37,480,819	D787G	probably damaging	Het
Zfp692	A	G	11: 58,314,227	H434R	probably damaging	Het
Zp1	C	A	19: 10,920,562	C5F	probably benign	Het

Other mutations in Adcy10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Adcy10	APN	1	165551914	missense	probably benign	0.45
IGL00731:Adcy10	APN	1	165572614	missense	probably benign
IGL01099:Adcy10	APN	1	165539842	missense	probably benign	0.21
IGL01464:Adcy10	APN	1	165546587	missense	probably damaging	1.00
IGL01729:Adcy10	APN	1	165513168	critical splice donor site	probably null
IGL02002:Adcy10	APN	1	165521843	missense	probably damaging	1.00
IGL02094:Adcy10	APN	1	165570620	missense	probably damaging	1.00
IGL02132:Adcy10	APN	1	165572543	missense	probably damaging	0.96
IGL02276:Adcy10	APN	1	165559128	missense	probably damaging	0.96
IGL02408:Adcy10	APN	1	165538380	missense	probably damaging	1.00
IGL02410:Adcy10	APN	1	165510408	missense	probably damaging	1.00
IGL02445:Adcy10	APN	1	165570744	missense	possibly damaging	0.85
IGL02470:Adcy10	APN	1	165567726	missense	probably damaging	1.00
IGL02551:Adcy10	APN	1	165543233	missense	probably damaging	1.00
IGL02606:Adcy10	APN	1	165519518	missense	possibly damaging	0.88
IGL02609:Adcy10	APN	1	165538475	nonsense	probably null
Bugged	UTSW	1	165564237	missense	probably damaging	0.99
debye	UTSW	1	165551361	critical splice donor site	probably null
malaysian	UTSW	1	165513127	missense	probably benign	0.38
singaporean	UTSW	1	165518312	missense	probably damaging	0.98
PIT4514001:Adcy10	UTSW	1	165556791	missense	probably benign	0.28
R0046:Adcy10	UTSW	1	165539834	missense	probably damaging	0.99
R0046:Adcy10	UTSW	1	165539834	missense	probably damaging	0.99
R0276:Adcy10	UTSW	1	165572591	missense	possibly damaging	0.88
R0324:Adcy10	UTSW	1	165564249	missense	probably benign	0.00
R0433:Adcy10	UTSW	1	165552022	missense	probably damaging	1.00
R0454:Adcy10	UTSW	1	165570728	missense	probably damaging	1.00
R0501:Adcy10	UTSW	1	165510390	missense	probably damaging	1.00
R0513:Adcy10	UTSW	1	165519519	missense	probably benign	0.04
R0533:Adcy10	UTSW	1	165564023	missense	probably benign	0.05
R0550:Adcy10	UTSW	1	165565315	missense	probably benign	0.00
R0597:Adcy10	UTSW	1	165525062	critical splice donor site	probably null
R0629:Adcy10	UTSW	1	165543105	missense	probably damaging	1.00
R1421:Adcy10	UTSW	1	165563947	missense	probably damaging	0.98
R1454:Adcy10	UTSW	1	165515380	missense	possibly damaging	0.66
R1524:Adcy10	UTSW	1	165518403	missense	probably damaging	1.00
R1534:Adcy10	UTSW	1	165518312	missense	probably damaging	0.98
R1594:Adcy10	UTSW	1	165525033	missense	probably benign	0.02
R1690:Adcy10	UTSW	1	165519925	missense	probably damaging	1.00
R1842:Adcy10	UTSW	1	165503243	missense	probably damaging	1.00
R1859:Adcy10	UTSW	1	165521961	missense	probably damaging	1.00
R1885:Adcy10	UTSW	1	165570808	missense	probably benign	0.02
R1929:Adcy10	UTSW	1	165510297	missense	probably damaging	1.00
R2005:Adcy10	UTSW	1	165525022	missense	probably benign	0.02
R2211:Adcy10	UTSW	1	165518212	missense	probably damaging	1.00
R2225:Adcy10	UTSW	1	165518260	missense	probably damaging	1.00
R2227:Adcy10	UTSW	1	165518260	missense	probably damaging	1.00
R2272:Adcy10	UTSW	1	165510297	missense	probably damaging	1.00
R2421:Adcy10	UTSW	1	165558597	missense	probably damaging	0.97
R3614:Adcy10	UTSW	1	165575727	missense	probably benign	0.38
R4538:Adcy10	UTSW	1	165513127	missense	probably benign	0.38
R4644:Adcy10	UTSW	1	165551361	critical splice donor site	probably null
R4649:Adcy10	UTSW	1	165504049	missense	probably damaging	1.00
R4832:Adcy10	UTSW	1	165506644	missense	probably damaging	1.00
R4853:Adcy10	UTSW	1	165548213	missense	probably benign
R4916:Adcy10	UTSW	1	165518246	missense	probably damaging	1.00
R4951:Adcy10	UTSW	1	165563963	missense	probably damaging	1.00
R4972:Adcy10	UTSW	1	165556862	missense	probably damaging	1.00
R5116:Adcy10	UTSW	1	165519500	missense	probably damaging	1.00
R5377:Adcy10	UTSW	1	165519895	missense	probably damaging	1.00
R5442:Adcy10	UTSW	1	165513140	missense	probably benign	0.43
R5692:Adcy10	UTSW	1	165515306	missense	probably benign	0.36
R5949:Adcy10	UTSW	1	165539817	missense	possibly damaging	0.79
R5998:Adcy10	UTSW	1	165541649	missense	probably benign	0.19
R6238:Adcy10	UTSW	1	165575728	nonsense	probably null
R6455:Adcy10	UTSW	1	165518374	missense	probably damaging	1.00
R6920:Adcy10	UTSW	1	165575658	missense	probably damaging	1.00
R6935:Adcy10	UTSW	1	165506635	missense	probably benign	0.21
R6957:Adcy10	UTSW	1	165564285	missense	probably damaging	1.00
R6970:Adcy10	UTSW	1	165556916	missense	probably benign	0.02
R7027:Adcy10	UTSW	1	165518246	missense	probably damaging	1.00
R7049:Adcy10	UTSW	1	165539874	missense	probably damaging	1.00
R7062:Adcy10	UTSW	1	165538522	missense	probably benign	0.27
R7130:Adcy10	UTSW	1	165504047	missense	probably damaging	1.00
R7144:Adcy10	UTSW	1	165510370	missense	probably benign	0.01
R7182:Adcy10	UTSW	1	165543470	splice site	probably null
R7228:Adcy10	UTSW	1	165510272	missense	probably damaging	1.00
R7384:Adcy10	UTSW	1	165576608	missense	unknown
R7561:Adcy10	UTSW	1	165559172	missense	possibly damaging	0.94
R7603:Adcy10	UTSW	1	165564237	missense	probably damaging	0.99
R7693:Adcy10	UTSW	1	165570771	missense	probably benign	0.01
R7812:Adcy10	UTSW	1	165515369	missense	probably damaging	1.00
R7905:Adcy10	UTSW	1	165513168	critical splice donor site	probably null
R8040:Adcy10	UTSW	1	165552024	missense	probably damaging	1.00
R8242:Adcy10	UTSW	1	165546549	missense	possibly damaging	0.82
R8278:Adcy10	UTSW	1	165503288	missense	probably damaging	1.00
R8282:Adcy10	UTSW	1	165510337	missense	probably benign	0.34
R8812:Adcy10	UTSW	1	165551298	missense	probably damaging	0.98
R9039:Adcy10	UTSW	1	165518345	missense	probably damaging	1.00
R9178:Adcy10	UTSW	1	165575649	missense	possibly damaging	0.79
R9244:Adcy10	UTSW	1	165543110	missense	probably benign	0.00
R9712:Adcy10	UTSW	1	165513112	missense	probably damaging	1.00
RF018:Adcy10	UTSW	1	165552109	missense	probably damaging	1.00
Z1177:Adcy10	UTSW	1	165510276	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CCTGTACTAGACATACTGTTTGCAGGGA -3'
(R):5'- GGAGATTCAAGAACAGACATGGCACA -3'

Sequencing Primer
(F):5'- CAGGGAAATGATATTCCTAAGGTCAC -3'
(R):5'- ACCCGGCATTGTTCTGAAG -3'

Posted On

2013-06-11