Mutagenetix > Incidental Mutation

Incidental Mutation 'R9178:Adcy10'

696791

Institutional Source

Beutler Lab

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

sAC, Sacy, soluble adenylyl cyclase

MMRRC Submission

068978-MU

Accession Numbers

Essential gene?

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

Stock #

R9178 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

165485183-165576774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165575649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1572 (Q1572L)

Ref Sequence

ENSEMBL: ENSMUSP00000027852 (fasta)

Gene Model

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

AlphaFold

Q8C0T9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027852
AA Change: Q1572L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: Q1572L

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

possibly damaging
Transcript: ENSMUST00000111439
AA Change: Q1572L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: Q1572L

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

possibly damaging
Transcript: ENSMUST00000111440
AA Change: Q1572L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: Q1572L

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

SMART Domains

Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567

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

Meta Mutation Damage Score

0.1267

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (74/74)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	A	9: 55,973,708	T146S	unknown	Het
Abca8b	A	T	11: 109,950,111	F1079I	probably benign	Het
Akna	T	C	4: 63,394,609	T426A	possibly damaging	Het
Alkbh8	A	G	9: 3,338,448		probably benign	Het
Apc2	G	A	10: 80,314,401	G1763E	probably benign	Het
Bmp1	G	T	14: 70,490,173	R657S	possibly damaging	Het
Calm1	G	A	12: 100,205,720		probably null	Het
Ccdc150	C	A	1: 54,272,485	A210E	probably damaging	Het
Cdc42bpa	T	C	1: 180,130,836	I275T		Het
Cfap54	G	T	10: 92,994,717	Q1186K	probably benign	Het
Col6a6	A	G	9: 105,781,970	V592A	probably benign	Het
Colec11	A	T	12: 28,594,855	N213K	possibly damaging	Het
Dennd5b	G	A	6: 149,033,346	R676*	probably null	Het
Dnaaf5	T	G	5: 139,152,897	Y278D	probably damaging	Het
Dopey1	T	A	9: 86,489,743	Y162*	probably null	Het
Dync1li2	A	G	8: 104,423,623	L369P	possibly damaging	Het
Ebf1	A	G	11: 44,992,449	T505A	probably benign	Het
Ebf1	A	G	11: 45,004,721	I584M	probably benign	Het
Frmpd1	T	C	4: 45,285,367	L1396P	probably damaging	Het
Gart	A	T	16: 91,634,016	V386D	possibly damaging	Het
Gm2075	A	G	12: 88,012,016	R57G	probably damaging	Het
Gprin1	C	T	13: 54,737,788	R891H	probably damaging	Het
Gsap	G	A	5: 21,217,473	V147I	probably damaging	Het
Gsc	G	T	12: 104,472,861	Y85*	probably null	Het
Gtf2a1l	A	G	17: 88,668,724	N5S		Het
Hmcn2	T	C	2: 31,391,509	V1912A	possibly damaging	Het
Icos	G	T	1: 60,995,555	S179I	probably damaging	Het
Ifi209	T	C	1: 173,637,403	L33P	probably damaging	Het
Igsf10	A	G	3: 59,326,059	I1751T	possibly damaging	Het
Il31ra	T	C	13: 112,541,246	Y252C	probably damaging	Het
Ints6	A	T	14: 62,709,587	S310T	probably damaging	Het
Kcng1	A	T	2: 168,269,185	S20T	possibly damaging	Het
Klf15	T	C	6: 90,467,109	I222T	probably damaging	Het
Lmo7	A	T	14: 101,807,470	K53*	probably null	Het
Map10	C	A	8: 125,670,910	N347K	probably damaging	Het
Mrps11	C	A	7: 78,790,696	T111K	probably damaging	Het
Myom3	T	G	4: 135,779,399	D494E	probably benign	Het
Naalad2	T	A	9: 18,330,856	Y584F	probably damaging	Het
Ndufa9	A	G	6: 126,849,087	V9A	probably benign	Het
Nrcam	G	T	12: 44,568,546	V640F	possibly damaging	Het
Olfr248	C	T	1: 174,391,663	T198I	probably benign	Het
Olfr330	C	A	11: 58,529,647	G113V	probably damaging	Het
Olfr646	T	C	7: 104,106,513	M78T	probably benign	Het
Olfr993	G	A	2: 85,414,504	A125V	probably damaging	Het
Pcdhga8	T	A	18: 37,727,839	H649Q	probably benign	Het
Pdk1	C	A	2: 71,900,058	H413Q	probably benign	Het
Pfkm	T	A	15: 98,129,280	H611Q	probably damaging	Het
Polr3g	T	C	13: 81,694,416	Y160C	unknown	Het
Ppargc1b	A	T	18: 61,310,922	M406K	probably benign	Het
Ptf1a	C	T	2: 19,445,725		probably benign	Het
Rc3h2	A	T	2: 37,405,252	C251S	possibly damaging	Het
Rnf32	A	G	5: 29,206,213	T166A	possibly damaging	Het
Sav1	A	T	12: 69,976,016	V254E	probably damaging	Het
Sel1l	T	C	12: 91,830,752	N234D	probably benign	Het
Setd1a	C	T	7: 127,786,418	P766S	possibly damaging	Het
Skida1	T	A	2: 18,045,678	K801*	probably null	Het
Slc22a5	G	A	11: 53,883,721	T146I	probably benign	Het
Slc25a24	G	T	3: 109,156,952	A206S	possibly damaging	Het
Slc39a6	G	A	18: 24,600,913	R240W	probably damaging	Het
Ssc5d	T	A	7: 4,927,059	D46E	probably damaging	Het
St5	C	T	7: 109,557,084	G153D	probably benign	Het
Tekt4	C	T	17: 25,471,927	A69V	possibly damaging	Het
Tmigd1	T	A	11: 76,914,052	F239Y	probably benign	Het
Tpp1	T	A	7: 105,751,639	R60S	probably benign	Het
Trank1	A	T	9: 111,367,200	I1431F	probably damaging	Het
Trav15-1-dv6-1	G	T	14: 53,560,062	W56L	probably damaging	Het
Ugt2b38	A	G	5: 87,420,537	S300P	probably damaging	Het
Urah	T	A	7: 140,837,674	L119Q	unknown	Het
Uspl1	T	A	5: 149,204,338	F382L	probably damaging	Het
Vps9d1	T	A	8: 123,248,835	Q157L	probably damaging	Het
Wbp1l	G	A	19: 46,652,494	V88I	probably benign	Het
Zfp444	T	C	7: 6,188,158	S113P	probably damaging	Het
Zfp580	T	G	7: 5,053,153	S171A	possibly damaging	Het
Zfp607a	A	G	7: 27,877,957	I151V	probably benign	Het
Zfp827	T	C	8: 79,091,935	F614S	probably damaging	Het
Zic4	A	T	9: 91,378,860	Q56L	possibly damaging	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
R9039:Adcy10	UTSW	1	165518345	missense	probably damaging	1.00
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'- CTTTGTCTGTGGATCCCCTG -3'
(R):5'- TAACAGATCATGGGAAGACAGTG -3'

Sequencing Primer
(F):5'- TTCTAGCTTCAGACACAGAGGC -3'
(R):5'- ATCATGGGAAGACAGTGGTTCTTAC -3'

Posted On

2022-02-07