Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02094:Adcy10'

279530

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

soluble adenylyl cyclase, Sacy, 4930431D04Rik, sAC

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.255) question?

Stock #

IGL02094

Quality Score

Status

Chromosome

Chromosomal Location

165312752-165404343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 165398189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1429 (Y1429H)

Ref Sequence

ENSEMBL: ENSMUSP00000107067 (fasta)

Gene Model

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

AlphaFold

Q8C0T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027852
AA Change: Y1429H

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

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: Y1429H

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: Y1429H

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

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: Y1429H

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: Y1429H

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

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: Y1429H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158666

Predicted Effect

probably benign
Transcript: ENSMUST00000193149

Coding Region Coverage

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	T	C	8: 56,324,480 (GRCm39)	N658S	possibly damaging	Het
Aebp1	G	A	11: 5,818,357 (GRCm39)	M98I	probably benign	Het
Arl3	T	C	19: 46,546,780 (GRCm39)	D15G	probably benign	Het
Casp2	T	A	6: 42,257,293 (GRCm39)	I414N	probably damaging	Het
Ceacam1	T	C	7: 25,173,968 (GRCm39)	D229G	probably damaging	Het
Cog7	G	T	7: 121,562,470 (GRCm39)	A234E	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp3a59	A	T	5: 146,041,631 (GRCm39)	T392S	probably benign	Het
Ebf2	G	A	14: 67,472,689 (GRCm39)	V36M	possibly damaging	Het
Fbxw15	A	C	9: 109,387,308 (GRCm39)	V229G	possibly damaging	Het
Got1l1	A	G	8: 27,689,873 (GRCm39)	V171A	probably benign	Het
Itgax	A	G	7: 127,730,645 (GRCm39)	Y121C	probably damaging	Het
Kcng4	C	A	8: 120,359,960 (GRCm39)	A139S	probably damaging	Het
Kcnj9	G	T	1: 172,153,275 (GRCm39)	T283K	probably damaging	Het
Mgl2	T	A	11: 70,027,923 (GRCm39)	I377K	possibly damaging	Het
Myo15a	T	C	11: 60,401,473 (GRCm39)		probably benign	Het
Nod1	A	T	6: 54,916,375 (GRCm39)		probably null	Het
Nr1h5	A	T	3: 102,859,512 (GRCm39)	C182*	probably null	Het
Nup210l	G	T	3: 90,087,520 (GRCm39)		probably null	Het
Ptbp2	G	A	3: 119,546,589 (GRCm39)		probably benign	Het
Ptpn13	T	G	5: 103,742,483 (GRCm39)	F2401V	probably damaging	Het
Rbbp6	T	C	7: 122,596,485 (GRCm39)	S676P	probably damaging	Het
Recql4	T	A	15: 76,593,717 (GRCm39)	Q131L	probably benign	Het
Sbno2	G	A	10: 79,893,479 (GRCm39)	P1274L	probably benign	Het
Sec24c	T	C	14: 20,738,470 (GRCm39)	V341A	probably damaging	Het
Smc1b	A	T	15: 84,982,092 (GRCm39)		probably benign	Het
Sptbn1	T	C	11: 30,050,659 (GRCm39)	H2310R	probably benign	Het
Tas2r109	T	A	6: 132,957,202 (GRCm39)	I243F	possibly damaging	Het
Trpc1	A	C	9: 95,625,334 (GRCm39)	D97E	probably damaging	Het
Trpm2	G	A	10: 77,778,830 (GRCm39)	Q379*	probably null	Het
Ttn	A	G	2: 76,649,167 (GRCm39)		probably benign	Het
Vmn2r74	A	T	7: 85,610,669 (GRCm39)	F8I	probably benign	Het
Zfp36	C	T	7: 28,077,188 (GRCm39)	S240N	probably benign	Het
Zfp65	A	G	13: 67,856,304 (GRCm39)	I325T	possibly damaging	Het

Other mutations in Adcy10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Adcy10	APN	1	165,379,483 (GRCm39)	missense	probably benign	0.45
IGL00731:Adcy10	APN	1	165,400,183 (GRCm39)	missense	probably benign
IGL01099:Adcy10	APN	1	165,367,411 (GRCm39)	missense	probably benign	0.21
IGL01464:Adcy10	APN	1	165,374,156 (GRCm39)	missense	probably damaging	1.00
IGL01729:Adcy10	APN	1	165,340,737 (GRCm39)	critical splice donor site	probably null
IGL02002:Adcy10	APN	1	165,349,412 (GRCm39)	missense	probably damaging	1.00
IGL02132:Adcy10	APN	1	165,400,112 (GRCm39)	missense	probably damaging	0.96
IGL02276:Adcy10	APN	1	165,386,697 (GRCm39)	missense	probably damaging	0.96
IGL02408:Adcy10	APN	1	165,365,949 (GRCm39)	missense	probably damaging	1.00
IGL02410:Adcy10	APN	1	165,337,977 (GRCm39)	missense	probably damaging	1.00
IGL02445:Adcy10	APN	1	165,398,313 (GRCm39)	missense	possibly damaging	0.85
IGL02470:Adcy10	APN	1	165,395,295 (GRCm39)	missense	probably damaging	1.00
IGL02551:Adcy10	APN	1	165,370,802 (GRCm39)	missense	probably damaging	1.00
IGL02606:Adcy10	APN	1	165,347,087 (GRCm39)	missense	possibly damaging	0.88
IGL02609:Adcy10	APN	1	165,366,044 (GRCm39)	nonsense	probably null
Bugged	UTSW	1	165,391,806 (GRCm39)	missense	probably damaging	0.99
debye	UTSW	1	165,378,930 (GRCm39)	critical splice donor site	probably null
malaysian	UTSW	1	165,340,696 (GRCm39)	missense	probably benign	0.38
singaporean	UTSW	1	165,345,881 (GRCm39)	missense	probably damaging	0.98
PIT4514001:Adcy10	UTSW	1	165,384,360 (GRCm39)	missense	probably benign	0.28
R0046:Adcy10	UTSW	1	165,367,403 (GRCm39)	missense	probably damaging	0.99
R0046:Adcy10	UTSW	1	165,367,403 (GRCm39)	missense	probably damaging	0.99
R0276:Adcy10	UTSW	1	165,400,160 (GRCm39)	missense	possibly damaging	0.88
R0324:Adcy10	UTSW	1	165,391,818 (GRCm39)	missense	probably benign	0.00
R0433:Adcy10	UTSW	1	165,379,591 (GRCm39)	missense	probably damaging	1.00
R0454:Adcy10	UTSW	1	165,398,297 (GRCm39)	missense	probably damaging	1.00
R0501:Adcy10	UTSW	1	165,337,959 (GRCm39)	missense	probably damaging	1.00
R0513:Adcy10	UTSW	1	165,347,088 (GRCm39)	missense	probably benign	0.04
R0533:Adcy10	UTSW	1	165,391,592 (GRCm39)	missense	probably benign	0.05
R0550:Adcy10	UTSW	1	165,392,884 (GRCm39)	missense	probably benign	0.00
R0554:Adcy10	UTSW	1	165,340,699 (GRCm39)	missense	probably benign
R0597:Adcy10	UTSW	1	165,352,631 (GRCm39)	critical splice donor site	probably null
R0629:Adcy10	UTSW	1	165,370,674 (GRCm39)	missense	probably damaging	1.00
R1421:Adcy10	UTSW	1	165,391,516 (GRCm39)	missense	probably damaging	0.98
R1454:Adcy10	UTSW	1	165,342,949 (GRCm39)	missense	possibly damaging	0.66
R1524:Adcy10	UTSW	1	165,345,972 (GRCm39)	missense	probably damaging	1.00
R1534:Adcy10	UTSW	1	165,345,881 (GRCm39)	missense	probably damaging	0.98
R1594:Adcy10	UTSW	1	165,352,602 (GRCm39)	missense	probably benign	0.02
R1690:Adcy10	UTSW	1	165,347,494 (GRCm39)	missense	probably damaging	1.00
R1842:Adcy10	UTSW	1	165,330,812 (GRCm39)	missense	probably damaging	1.00
R1859:Adcy10	UTSW	1	165,349,530 (GRCm39)	missense	probably damaging	1.00
R1885:Adcy10	UTSW	1	165,398,377 (GRCm39)	missense	probably benign	0.02
R1929:Adcy10	UTSW	1	165,337,866 (GRCm39)	missense	probably damaging	1.00
R2005:Adcy10	UTSW	1	165,352,591 (GRCm39)	missense	probably benign	0.02
R2211:Adcy10	UTSW	1	165,345,781 (GRCm39)	missense	probably damaging	1.00
R2225:Adcy10	UTSW	1	165,345,829 (GRCm39)	missense	probably damaging	1.00
R2227:Adcy10	UTSW	1	165,345,829 (GRCm39)	missense	probably damaging	1.00
R2272:Adcy10	UTSW	1	165,337,866 (GRCm39)	missense	probably damaging	1.00
R2421:Adcy10	UTSW	1	165,386,166 (GRCm39)	missense	probably damaging	0.97
R3614:Adcy10	UTSW	1	165,403,296 (GRCm39)	missense	probably benign	0.38
R4538:Adcy10	UTSW	1	165,340,696 (GRCm39)	missense	probably benign	0.38
R4644:Adcy10	UTSW	1	165,378,930 (GRCm39)	critical splice donor site	probably null
R4649:Adcy10	UTSW	1	165,331,618 (GRCm39)	missense	probably damaging	1.00
R4832:Adcy10	UTSW	1	165,334,213 (GRCm39)	missense	probably damaging	1.00
R4853:Adcy10	UTSW	1	165,375,782 (GRCm39)	missense	probably benign
R4916:Adcy10	UTSW	1	165,345,815 (GRCm39)	missense	probably damaging	1.00
R4951:Adcy10	UTSW	1	165,391,532 (GRCm39)	missense	probably damaging	1.00
R4972:Adcy10	UTSW	1	165,384,431 (GRCm39)	missense	probably damaging	1.00
R5116:Adcy10	UTSW	1	165,347,069 (GRCm39)	missense	probably damaging	1.00
R5377:Adcy10	UTSW	1	165,347,464 (GRCm39)	missense	probably damaging	1.00
R5442:Adcy10	UTSW	1	165,340,709 (GRCm39)	missense	probably benign	0.43
R5692:Adcy10	UTSW	1	165,342,875 (GRCm39)	missense	probably benign	0.36
R5949:Adcy10	UTSW	1	165,367,386 (GRCm39)	missense	possibly damaging	0.79
R5998:Adcy10	UTSW	1	165,369,218 (GRCm39)	missense	probably benign	0.19
R6238:Adcy10	UTSW	1	165,403,297 (GRCm39)	nonsense	probably null
R6455:Adcy10	UTSW	1	165,345,943 (GRCm39)	missense	probably damaging	1.00
R6920:Adcy10	UTSW	1	165,403,227 (GRCm39)	missense	probably damaging	1.00
R6935:Adcy10	UTSW	1	165,334,204 (GRCm39)	missense	probably benign	0.21
R6957:Adcy10	UTSW	1	165,391,854 (GRCm39)	missense	probably damaging	1.00
R6970:Adcy10	UTSW	1	165,384,485 (GRCm39)	missense	probably benign	0.02
R7027:Adcy10	UTSW	1	165,345,815 (GRCm39)	missense	probably damaging	1.00
R7049:Adcy10	UTSW	1	165,367,443 (GRCm39)	missense	probably damaging	1.00
R7062:Adcy10	UTSW	1	165,366,091 (GRCm39)	missense	probably benign	0.27
R7130:Adcy10	UTSW	1	165,331,616 (GRCm39)	missense	probably damaging	1.00
R7144:Adcy10	UTSW	1	165,337,939 (GRCm39)	missense	probably benign	0.01
R7182:Adcy10	UTSW	1	165,371,039 (GRCm39)	splice site	probably null
R7228:Adcy10	UTSW	1	165,337,841 (GRCm39)	missense	probably damaging	1.00
R7384:Adcy10	UTSW	1	165,404,177 (GRCm39)	missense	unknown
R7561:Adcy10	UTSW	1	165,386,741 (GRCm39)	missense	possibly damaging	0.94
R7603:Adcy10	UTSW	1	165,391,806 (GRCm39)	missense	probably damaging	0.99
R7693:Adcy10	UTSW	1	165,398,340 (GRCm39)	missense	probably benign	0.01
R7812:Adcy10	UTSW	1	165,342,938 (GRCm39)	missense	probably damaging	1.00
R7905:Adcy10	UTSW	1	165,340,737 (GRCm39)	critical splice donor site	probably null
R8040:Adcy10	UTSW	1	165,379,593 (GRCm39)	missense	probably damaging	1.00
R8242:Adcy10	UTSW	1	165,374,118 (GRCm39)	missense	possibly damaging	0.82
R8278:Adcy10	UTSW	1	165,330,857 (GRCm39)	missense	probably damaging	1.00
R8282:Adcy10	UTSW	1	165,337,906 (GRCm39)	missense	probably benign	0.34
R8812:Adcy10	UTSW	1	165,378,867 (GRCm39)	missense	probably damaging	0.98
R9039:Adcy10	UTSW	1	165,345,914 (GRCm39)	missense	probably damaging	1.00
R9178:Adcy10	UTSW	1	165,403,218 (GRCm39)	missense	possibly damaging	0.79
R9244:Adcy10	UTSW	1	165,370,679 (GRCm39)	missense	probably benign	0.00
R9712:Adcy10	UTSW	1	165,340,681 (GRCm39)	missense	probably damaging	1.00
RF018:Adcy10	UTSW	1	165,379,678 (GRCm39)	missense	probably damaging	1.00
Z1177:Adcy10	UTSW	1	165,337,845 (GRCm39)	missense	possibly damaging	0.89

Posted On

2015-04-16