Mutagenetix > Incidental Mutation

Incidental Mutation 'R0501:Adcy10'

47080

Institutional Source

Beutler Lab

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

sAC, Sacy, soluble adenylyl cyclase

MMRRC Submission

038696-MU

Accession Numbers

Essential gene?

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

Stock #

R0501 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165485183-165576774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 165510390 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 191 (P191L)

Ref Sequence

ENSEMBL: ENSMUSP00000137959 (fasta)

Gene Model

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

AlphaFold

Q8C0T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027852
AA Change: P191L

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

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: P191L

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: P191L

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

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: P191L

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: P191L

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

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: P191L

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: P191L

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

SMART Domains

Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
AA Change: P191L

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

unknown
Transcript: ENSMUST00000193149
AA Change: P143L

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195194

Coding Region Coverage

1x: 99.7%
3x: 98.9%
10x: 97.0%
20x: 94.2%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 72,455,372	S415P	probably benign	Het
Adam19	C	T	11: 46,123,130	P316S	probably damaging	Het
Adamts2	A	G	11: 50,668,145	D229G	probably benign	Het
Adgrv1	T	C	13: 81,559,150	Y1379C	probably damaging	Het
Akap9	T	C	5: 3,970,685	L1132P	probably damaging	Het
Aoah	A	G	13: 21,005,073	T489A	probably benign	Het
Apc2	T	C	10: 80,315,124	L1975P	probably damaging	Het
Bpifa5	A	T	2: 154,163,696	D66V	probably benign	Het
C230029F24Rik	T	C	1: 49,335,470		noncoding transcript	Het
Cacna1h	A	T	17: 25,388,667	V892E	probably damaging	Het
Car4	G	A	11: 84,963,442	V72I	probably benign	Het
Chst3	A	G	10: 60,186,227	L266P	probably damaging	Het
Ckap2l	G	A	2: 129,285,491	R256W	possibly damaging	Het
Cntn4	A	T	6: 106,618,335	D471V	probably damaging	Het
Cntrob	G	A	11: 69,322,868	S32F	probably damaging	Het
Cpne7	T	A	8: 123,126,255	N200K	possibly damaging	Het
Creb3l3	C	A	10: 81,086,582	M271I	probably benign	Het
Csmd1	T	A	8: 17,027,323	Q106L	probably damaging	Het
D7Ertd443e	G	A	7: 134,294,972	T563I	probably damaging	Het
Dmac1	T	G	4: 75,278,176	N26H	unknown	Het
Dopey2	T	C	16: 93,752,862	F230L	probably benign	Het
Dpp6	T	A	5: 27,725,606	I812N	probably damaging	Het
Fabp12	T	C	3: 10,250,143	D48G	probably benign	Het
Fbn1	G	A	2: 125,301,749	T2820M	probably benign	Het
Fcho1	C	T	8: 71,712,560	A418T	probably benign	Het
Fcho2	A	T	13: 98,764,515	S277R	possibly damaging	Het
Fmo2	A	G	1: 162,876,928	S470P	probably benign	Het
Gm17541	T	G	12: 4,689,730		probably benign	Het
Gm4353	A	T	7: 116,083,471	Y292N	probably benign	Het
Igkv4-71	A	T	6: 69,243,306	I69N	probably damaging	Het
Insrr	G	T	3: 87,810,684	A871S	probably benign	Het
Irs2	C	T	8: 11,006,396	V679M	probably damaging	Het
Itpr3	T	A	17: 27,107,289	H1344Q	probably benign	Het
Kcnma1	T	C	14: 23,311,716	M1074V	possibly damaging	Het
Kif1a	G	A	1: 93,056,245	R602W	probably damaging	Het
Kif21b	A	T	1: 136,163,099	D1215V	probably benign	Het
Maats1	C	G	16: 38,335,635	M75I	probably damaging	Het
Mapk13	G	A	17: 28,776,353	V183M	probably damaging	Het
Mbp	C	T	18: 82,575,197	S100F	probably damaging	Het
Mcm6	A	G	1: 128,355,636	I44T	probably benign	Het
Ncor1	T	A	11: 62,373,322	D418V	possibly damaging	Het
Nid2	T	A	14: 19,789,668		probably null	Het
Nolc1	T	C	19: 46,078,920	V80A	probably damaging	Het
Olfr1024	A	G	2: 85,905,004	F17L	probably damaging	Het
Olfr1121	A	T	2: 87,371,552	R7W	probably damaging	Het
Olfr1162	A	T	2: 88,050,471	I51N	probably damaging	Het
Olfr1240	T	C	2: 89,439,716	T188A	probably benign	Het
Olfr1338	C	A	4: 118,753,830	C238F	probably benign	Het
Olfr1508	T	A	14: 52,463,926	M1L	possibly damaging	Het
Olfr3	A	T	2: 36,812,480	L204*	probably null	Het
Olfr70	A	C	4: 43,697,079	C31W	probably damaging	Het
Olfr700	G	A	7: 106,805,811	S217F	probably damaging	Het
Olfr705	A	T	7: 106,714,603	M26K	probably benign	Het
Olfr713	A	T	7: 107,036,232	T26S	probably benign	Het
Olfr855	T	A	9: 19,584,618	I27N	probably damaging	Het
Pcgf3	T	A	5: 108,475,112	C38S	probably damaging	Het
Pdia4	A	T	6: 47,801,002	V352E	probably damaging	Het
Pik3c2a	C	A	7: 116,354,055	V1202L	probably damaging	Het
Rbm15	G	T	3: 107,332,530	A184E	possibly damaging	Het
Rsph3a	T	A	17: 7,979,120	L442*	probably null	Het
Scg2	G	C	1: 79,435,603	L468V	probably damaging	Het
Sdk1	A	T	5: 141,937,718	I365L	probably benign	Het
Setdb1	A	G	3: 95,338,829	V595A	probably benign	Het
Slc22a22	T	A	15: 57,249,650	T398S	probably benign	Het
Stk11	C	A	10: 80,126,285	P217Q	probably damaging	Het
Tes	G	A	6: 17,097,558	D222N	probably benign	Het
Tmem132e	T	A	11: 82,435,068	I206N	possibly damaging	Het
Tmem214	G	T	5: 30,872,532	R251L	probably damaging	Het
Tmem253	T	A	14: 52,018,579	I105N	probably damaging	Het
Toe1	A	G	4: 116,807,485	V12A	probably benign	Het
Top1	C	A	2: 160,714,159	H513N	probably damaging	Het
Tph1	G	T	7: 46,649,988	Y376*	probably null	Het
Trim45	T	A	3: 100,923,219	L103Q	probably damaging	Het
Ttc37	A	C	13: 76,147,806	M1063L	probably benign	Het
Ttn	T	A	2: 76,944,174		probably null	Het
Twnk	T	C	19: 45,007,746	V206A	probably damaging	Het
Ube2z	A	G	11: 96,050,288	S343P	probably damaging	Het
Vmn2r8	T	C	5: 108,803,183	D132G	probably benign	Het
Wdr20rt	A	T	12: 65,225,807	T15S	probably benign	Het
Wdr59	C	T	8: 111,458,947	R841Q	possibly damaging	Het
Wdtc1	A	G	4: 133,308,840	F130L	possibly damaging	Het
Wnk1	C	T	6: 119,962,803	R43Q	probably damaging	Het
Ythdf3	T	C	3: 16,205,072	L461P	probably damaging	Het
Zcchc2	T	G	1: 106,016,091	F462C	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
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
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'- TGGGAAATAACCCAGAATGTGTTGTGC -3'
(R):5'- CTGGCAAATAGCTGACAGTCCACTC -3'

Sequencing Primer
(F):5'- TGTGCAAACCCATTGCTTG -3'
(R):5'- caatcaaaccaacaaacaaacaaac -3'

Posted On

2013-06-12