Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02132:Adcy10'

281054

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 #

IGL02132

Quality Score

Status

Chromosome

Chromosomal Location

165312752-165404343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 165400112 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1507 (V1507A)

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: V1507A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: V1507A

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: V1507A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: V1507A

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: V1507A

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: V1507A

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921513I03Rik	G	A	10: 120,614,635 (GRCm39)		probably benign	Het
4930432E11Rik	C	T	7: 29,262,704 (GRCm39)		noncoding transcript	Het
Ap3b2	T	A	7: 81,110,746 (GRCm39)	M1010L	unknown	Het
Bmp10	T	C	6: 87,411,130 (GRCm39)	S308P	probably benign	Het
Cnih3	C	A	1: 181,282,274 (GRCm39)	Y169*	probably null	Het
Cpsf4l	A	G	11: 113,590,685 (GRCm39)	S222P	possibly damaging	Het
Cyp2d10	G	A	15: 82,288,808 (GRCm39)		probably benign	Het
Dcstamp	A	T	15: 39,617,928 (GRCm39)	E112D	probably damaging	Het
Fras1	C	T	5: 96,929,496 (GRCm39)	Q3967*	probably null	Het
Gcm1	C	A	9: 77,972,121 (GRCm39)	P354H	possibly damaging	Het
Gen1	A	G	12: 11,291,867 (GRCm39)	S706P	probably benign	Het
Glb1l3	G	T	9: 26,736,466 (GRCm39)	T532N	probably benign	Het
Gm5069	T	A	1: 180,154,872 (GRCm39)		probably benign	Het
Gzmc	A	C	14: 56,471,422 (GRCm39)	F40V	probably benign	Het
Itgb2	G	T	10: 77,385,895 (GRCm39)	C286F	probably damaging	Het
Jak3	A	G	8: 72,131,124 (GRCm39)	Y48C	probably damaging	Het
Lrp2	G	A	2: 69,367,960 (GRCm39)	S184L	probably benign	Het
Myo1f	T	A	17: 33,798,945 (GRCm39)	N203K	probably benign	Het
Nrxn2	G	A	19: 6,522,306 (GRCm39)	G182R	probably damaging	Het
Or4k15c	T	C	14: 50,321,943 (GRCm39)	N65S	probably damaging	Het
Or4p8	A	G	2: 88,727,503 (GRCm39)	V146A	probably benign	Het
Or5g23	A	C	2: 85,438,664 (GRCm39)	L197V	probably benign	Het
Otog	C	T	7: 45,954,903 (GRCm39)	S2692L	probably damaging	Het
Pde9a	C	T	17: 31,672,444 (GRCm39)	T34I	probably benign	Het
Phip	T	C	9: 82,763,394 (GRCm39)	T1295A	possibly damaging	Het
Pik3cb	A	G	9: 98,953,430 (GRCm39)	V451A	probably benign	Het
Psd2	T	G	18: 36,137,809 (GRCm39)		probably benign	Het
Pycr2	T	C	1: 180,733,762 (GRCm39)	I118T	probably damaging	Het
Rnf17	T	G	14: 56,658,623 (GRCm39)	M104R	probably benign	Het
Rp1l1	T	C	14: 64,266,259 (GRCm39)	V615A	probably benign	Het
Sel1l3	T	A	5: 53,327,747 (GRCm39)	R511W	possibly damaging	Het
Sis	T	C	3: 72,854,804 (GRCm39)	N478D	probably benign	Het
Trps1	T	A	15: 50,685,674 (GRCm39)	S584C	probably damaging	Het
Vmn2r124	T	C	17: 18,284,491 (GRCm39)		probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Zc3h13	T	C	14: 75,567,787 (GRCm39)	S1027P	probably benign	Het
Zfp644	A	T	5: 106,783,760 (GRCm39)	I929K	probably benign	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
IGL02094:Adcy10	APN	1	165,398,189 (GRCm39)	missense	probably damaging	1.00
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