Mutagenetix > Incidental Mutation

Incidental Mutation 'R4649:Adcy10'

350549

Institutional Source

Beutler Lab

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

sAC, Sacy, soluble adenylyl cyclase

MMRRC Submission

041910-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.280) question?

Stock #

R4649 (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 165504049 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 84 (E84K)

Ref Sequence

ENSEMBL: ENSMUSP00000137744 (fasta)

Gene Model

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

AlphaFold

Q8C0T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027852
AA Change: E84K

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

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: E84K

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: E84K

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

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: E84K

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: E84K

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

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: E84K

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: E84K

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

SMART Domains

Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
AA Change: E84K

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 damaging
Transcript: ENSMUST00000155216
AA Change: E84K

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

SMART Domains

Protein: ENSMUSP00000137744
Gene: ENSMUSG00000026567
AA Change: E84K

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

unknown
Transcript: ENSMUST00000193149
AA Change: E36K

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
4933409G03Rik	G	A	2: 68,606,215	E168K	unknown	Het
Abca4	G	T	3: 122,169,893	V841F	probably damaging	Het
Adgrg6	C	A	10: 14,468,827	M127I	probably damaging	Het
Agpat5	A	G	8: 18,879,652	I266V	possibly damaging	Het
Agtpbp1	A	T	13: 59,528,399	Y186N	possibly damaging	Het
Alx1	A	T	10: 103,009,332	N279K	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Arsi	A	G	18: 60,917,098	Y351C	probably damaging	Het
B4galnt3	T	A	6: 120,224,620	R155W	probably damaging	Het
BC028528	T	C	3: 95,888,265	E75G	probably damaging	Het
Bmp2k	C	T	5: 97,053,111	P297S	possibly damaging	Het
Btnl4	A	G	17: 34,472,628	S296P	probably benign	Het
Bzw2	A	T	12: 36,123,981	V98E	probably null	Het
Cacna1d	C	T	14: 30,095,408	M1232I	probably benign	Het
Cast	A	G	13: 74,746,014	S171P	probably benign	Het
Catsperb	G	A	12: 101,541,512	A513T	probably benign	Het
Cd19	A	G	7: 126,414,492	S42P	probably benign	Het
Chml	A	G	1: 175,687,396	S138P	probably benign	Het
Clic6	T	G	16: 92,530,939		probably null	Het
Col12a1	A	T	9: 79,639,794	V2252E	probably damaging	Het
Cplx2	G	A	13: 54,379,548	E82K	probably benign	Het
Csmd2	G	A	4: 128,546,073	V3107M	probably benign	Het
Cspg4	T	A	9: 56,886,865	V628D	possibly damaging	Het
Dcaf13	G	A	15: 39,138,242	R315Q	possibly damaging	Het
Deaf1	A	G	7: 141,297,573	V547A	possibly damaging	Het
Dmxl1	C	T	18: 49,878,631	T1285I	probably damaging	Het
Dnah3	C	A	7: 120,047,698	W1036L	probably damaging	Het
Dpy19l1	A	C	9: 24,482,054	S140A	possibly damaging	Het
Dsg2	T	A	18: 20,602,245	D1093E	possibly damaging	Het
Edaradd	T	A	13: 12,508,423	H12L	probably damaging	Het
Enam	T	C	5: 88,492,968	M163T	probably benign	Het
Fbxo22	T	A	9: 55,221,049	V218E	probably damaging	Het
Fbxo34	A	T	14: 47,529,628	K148N	probably damaging	Het
Foxi3	A	G	6: 70,956,976	D149G	probably damaging	Het
Gbp8	C	T	5: 105,041,941	G75D	probably damaging	Het
Gm10784	C	T	13: 49,945,215		noncoding transcript	Het
Gm11127	T	C	17: 36,057,876	Y104C	possibly damaging	Het
Gm7247	G	A	14: 51,569,594		probably null	Het
Grik3	T	A	4: 125,650,485	V333E	probably damaging	Het
Gsap	A	T	5: 21,226,311	D211V	probably damaging	Het
Ino80	T	C	2: 119,431,008	N725S	probably damaging	Het
Itgad	A	G	7: 128,189,531	I443V	probably benign	Het
Itsn1	T	A	16: 91,841,588	I52N	probably damaging	Het
Kmt2b	TCTCCTCCTCCTCCTCCTCCTCCTCC	TCTCCTCCTCCTCCTCCTCCTCC	7: 30,586,358		probably benign	Het
Lamc1	T	G	1: 153,228,777	S59R	probably damaging	Het
Lrrk1	T	C	7: 66,273,053	I1366V	probably benign	Het
Lyn	C	A	4: 3,738,850	Q41K	probably benign	Het
Mapk13	C	T	17: 28,778,487	R360*	probably null	Het
Mapk8ip3	T	A	17: 24,904,752	I599F	probably damaging	Het
Me1	T	C	9: 86,679,852	K60R	probably benign	Het
Mga	T	A	2: 119,941,493	D1532E	possibly damaging	Het
Miga1	G	A	3: 152,279,005	S427L	probably benign	Het
Mknk2	A	T	10: 80,669,339	V186E	probably damaging	Het
Myo1a	C	A	10: 127,710,217	N236K	probably benign	Het
Myt1	A	G	2: 181,797,414	D243G	probably benign	Het
Ncf4	T	C	15: 78,255,989	V196A	possibly damaging	Het
Nlrp5	G	T	7: 23,418,178	L442F	probably damaging	Het
Olfm4	G	A	14: 80,021,307	D332N	probably benign	Het
Olfr1254	C	A	2: 89,789,293	V20F	probably benign	Het
Olfr32	T	A	2: 90,139,088	D17V	probably damaging	Het
Osbpl11	T	A	16: 33,196,082	M69K	probably benign	Het
Oxnad1	T	A	14: 32,102,409	*312K	probably null	Het
Plekhg1	A	G	10: 3,956,985	Q634R	probably benign	Het
Plekhh2	T	C	17: 84,575,263	Y733H	probably damaging	Het
Ppp1r21	A	G	17: 88,549,513	H132R	probably benign	Het
Prkcq	T	C	2: 11,279,522	V501A	possibly damaging	Het
Prpf38b	G	A	3: 108,904,092		probably benign	Het
Prpf4b	A	T	13: 34,899,971	M908L	probably benign	Het
Prps2	T	C	X: 167,352,292	D183G	probably damaging	Het
Pudp	T	C	18: 50,568,188	D158G	probably damaging	Het
R3hdm1	T	C	1: 128,184,444	S422P	probably damaging	Het
Ranbp3	T	A	17: 56,696,640		probably null	Het
Ranbp6	A	G	19: 29,810,321	V877A	probably benign	Het
Rgsl1	A	T	1: 153,817,582	S618T	probably benign	Het
Rhox2a	G	C	X: 37,245,309	R43P	probably benign	Het
Rhox2a	A	T	X: 37,245,362	I61L	probably benign	Het
Rnf207	A	C	4: 152,312,155	D466E	probably benign	Het
Rnf7	A	G	9: 96,471,830	I80T	probably benign	Het
Ros1	T	A	10: 52,129,668	I878F	possibly damaging	Het
Rsbn1	T	A	3: 103,953,780		probably null	Het
Sbk1	T	C	7: 126,291,129	S105P	probably damaging	Het
Sdk1	T	C	5: 142,006,625	Y790H	probably damaging	Het
Sec62	T	A	3: 30,810,534	N182K	unknown	Het
Slc15a1	T	C	14: 121,478,092	Y345C	probably damaging	Het
Slc27a1	G	A	8: 71,570,764	A15T	probably benign	Het
Slc35d1	A	G	4: 103,213,229	F110L	probably damaging	Het
Slc39a5	T	A	10: 128,397,267	S333C	probably benign	Het
Tarbp1	A	G	8: 126,447,195	S927P	probably damaging	Het
Tns1	A	G	1: 73,953,771	S583P	probably damaging	Het
Trim38	A	T	13: 23,782,969	D133V	probably damaging	Het
Trim40	T	C	17: 36,882,639		probably null	Het
Trim42	C	A	9: 97,362,945	V601L	probably benign	Het
Trpc7	G	A	13: 56,887,554	R189C	probably damaging	Het
Ttc29	A	T	8: 78,333,579	Y376F	probably benign	Het
Vmn2r63	A	G	7: 42,903,690	I714T	possibly damaging	Het
Vmn2r68	C	A	7: 85,221,535	A847S	probably benign	Het
Wdr63	A	G	3: 146,048,167	S713P	probably damaging	Het
Zbp1	G	A	2: 173,207,815	P385S	possibly damaging	Het
Zfat	A	G	15: 68,184,476	Y237H	probably damaging	Het
Zfp236	A	T	18: 82,597,659	W1840R	probably damaging	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp462	T	A	4: 55,009,349	N438K	probably benign	Het
Zfp952	T	A	17: 33,002,925	V88E	probably damaging	Het
Znfx1	G	T	2: 167,056,356	A216D	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
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'- CACTAAGGTCATTTGAAACTCTGCC -3'
(R):5'- TCTAATCAGAAGGAGGCATGTG -3'

Sequencing Primer
(F):5'- GTCATTTGAAACTCTGCCACTTTTAG -3'
(R):5'- CAGAAGGAGGCATGTGTGTGTG -3'

Posted On

2015-10-08