Mutagenetix > Incidental Mutation

Incidental Mutation 'R9039:Adcy10'

687582

Institutional Source

Beutler Lab

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

sAC, Sacy, soluble adenylyl cyclase

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

R9039 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165485183-165576774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 165518345 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 321 (I321T)

Ref Sequence

ENSEMBL: ENSMUSP00000027852 (fasta)

Gene Model

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

AlphaFold

Q8C0T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027852
AA Change: I321T

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

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: I321T

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 damaging
Transcript: ENSMUST00000111439
AA Change: I321T

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

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: I321T

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 damaging
Transcript: ENSMUST00000111440
AA Change: I321T

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

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: I321T

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 damaging
Transcript: ENSMUST00000148550
AA Change: I321T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
AA Change: I321T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,167,075	V692A	possibly damaging	Het
Aco2	C	G	15: 81,872,419		probably benign	Het
Agbl2	C	T	2: 90,815,386	T821I	probably benign	Het
Alpk1	A	G	3: 127,679,543	L937P	probably damaging	Het
Atp5b	A	G	10: 128,083,898	D45G	probably benign	Het
C8a	C	T	4: 104,822,003	R530H	probably benign	Het
Cacna1s	T	C	1: 136,088,319	S694P	probably benign	Het
Cdca7	T	A	2: 72,482,512	D162E	probably benign	Het
Cep78	G	T	19: 15,959,543	Q600K	probably benign	Het
Col4a3bp	C	T	13: 96,543,209	P16S	probably benign	Het
Coq8b	A	C	7: 27,250,586	R363S	probably benign	Het
Cpne3	A	T	4: 19,540,770	C202S	probably damaging	Het
Csmd3	G	T	15: 47,619,912		probably benign	Het
Cyp4a14	A	T	4: 115,487,264	V468E	probably damaging	Het
Dchs1	A	T	7: 105,756,008	D2442E	probably benign	Het
Dip2a	T	C	10: 76,327,719	Y49C	probably benign	Het
Dopey1	A	G	9: 86,500,817	R268G	probably damaging	Het
Eid3	C	T	10: 82,867,731	S342L	possibly damaging	Het
Ezh2	A	G	6: 47,551,737	L296P	possibly damaging	Het
Fgfrl1	G	C	5: 108,705,573		probably null	Het
Flg2	A	G	3: 93,203,592	R976G	unknown	Het
Fsip2	C	A	2: 82,998,201	Q6781K	probably benign	Het
Gm7534	C	A	4: 134,195,547	V492F	probably damaging	Het
Golga3	C	T	5: 110,204,933	H857Y	probably benign	Het
Hmcn2	T	A	2: 31,354,634	V701E	probably damaging	Het
Il21	A	T	3: 37,232,453	I38N	probably benign	Het
Ip6k2	G	T	9: 108,804,608	G246V	probably damaging	Het
Ipo13	T	C	4: 117,900,988	Q726R	probably damaging	Het
Itsn1	A	T	16: 91,906,770	N1521Y	unknown	Het
Kif2b	A	G	11: 91,576,305	V384A	possibly damaging	Het
L3mbtl1	G	T	2: 162,966,068	R541L	probably damaging	Het
Lama3	T	A	18: 12,481,063	C1296*	probably null	Het
Lars	T	C	18: 42,257,169	D11G	probably damaging	Het
Ly6c1	C	A	15: 75,045,451	G116V	probably damaging	Het
Mmp27	C	A	9: 7,581,249	F478L	probably benign	Het
Moxd1	T	A	10: 24,279,353		probably benign	Het
Naaa	T	A	5: 92,272,441		probably benign	Het
Nav1	T	A	1: 135,443,749	Q1746L	unknown	Het
Nedd9	T	C	13: 41,318,508	Y165C	probably damaging	Het
Neurod1	T	C	2: 79,454,376	Y221C	probably damaging	Het
Olfr1040	T	C	2: 86,146,281	Y151C	probably damaging	Het
Olfr1154	T	C	2: 87,903,563	T38A	probably damaging	Het
Olfr1228	G	T	2: 89,249,201	F152L	probably benign	Het
Olfr450	A	T	6: 42,817,611	I47F	probably damaging	Het
Orm3	A	G	4: 63,356,296	N33D	possibly damaging	Het
Ppp1r3a	G	A	6: 14,754,526	P241S	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,657	T949A	probably benign	Het
Prdx6	A	T	1: 161,251,049	I23N	probably damaging	Het
Prkd3	A	T	17: 78,972,574	V334E	probably benign	Het
Prr12	A	T	7: 45,034,722	D1631E	probably damaging	Het
Ptpn22	A	G	3: 103,912,235		probably benign	Het
Pum2	T	G	12: 8,744,430	D773E	probably damaging	Het
Sidt2	A	G	9: 45,945,350	C451R	probably benign	Het
Slc37a2	A	G	9: 37,237,362	S275P	probably benign	Het
Slmap	G	T	14: 26,533,364	N54K	probably benign	Het
Susd4	A	G	1: 182,854,032	D146G	probably benign	Het
Tekt3	G	A	11: 63,081,343	R275H	possibly damaging	Het
Tkfc	A	G	19: 10,596,248	L242P	probably damaging	Het
Tm9sf2	T	A	14: 122,126,164	L99I	probably benign	Het
Triqk	A	T	4: 12,980,490	D78V	probably damaging	Het
Trmo	T	C	4: 46,382,322	D258G	probably benign	Het
Tsc2	A	G	17: 24,607,515	V920A	probably benign	Het
Tspan17	C	T	13: 54,796,178	Q257*	probably null	Het
Tube1	T	A	10: 39,135,021	F45I	probably damaging	Het
Vmn1r4	A	G	6: 56,956,837	T109A	possibly damaging	Het
Vmn2r14	A	T	5: 109,220,036	Y363*	probably null	Het
Zfp324	G	T	7: 12,971,528	G548V	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
R0554:Adcy10	UTSW	1	165513130	missense	probably benign
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
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'- ACTTTGGGTACAGGCTAGAGTG -3'
(R):5'- GCTGTTACAAAGAGTGGTGTCC -3'

Sequencing Primer
(F):5'- TAAAAGGGTTCTGCTGCCC -3'
(R):5'- GGTGTCCTACCTTAAGTATCCCATG -3'

Posted On

2021-11-19