Mutagenetix > Incidental Mutation

Incidental Mutation 'R5692:Adcy10'

501304

Institutional Source

Beutler Lab

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

soluble adenylyl cyclase, Sacy, 4930431D04Rik, sAC

MMRRC Submission

043179-MU

Accession Numbers

Essential gene?

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

Stock #

R5692 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165312752-165404343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165342875 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 247 (N247S)

Ref Sequence

ENSEMBL: ENSMUSP00000137959 (fasta)

Gene Model

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

AlphaFold

Q8C0T9

Predicted Effect

probably benign
Transcript: ENSMUST00000027852
AA Change: N247S

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: N247S

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 benign
Transcript: ENSMUST00000111439
AA Change: N247S

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: N247S

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: ENSMUST00000111440
AA Change: N247S

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: N247S

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
AA Change: N247S

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
AA Change: N247S

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

probably benign
Transcript: ENSMUST00000193149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194554

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195194

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700128F08Rik	G	A	9: 8,221,991 (GRCm39)		noncoding transcript	Het
Ago3	T	C	4: 126,248,862 (GRCm39)		probably null	Het
Aldh16a1	A	G	7: 44,797,223 (GRCm39)	V168A	probably damaging	Het
Aqp7	G	A	4: 41,035,510 (GRCm39)	T115I	probably benign	Het
Arhgap26	T	A	18: 39,254,945 (GRCm39)	V274E	probably damaging	Het
Clec4d	T	C	6: 123,245,104 (GRCm39)		probably null	Het
Dennd4b	T	C	3: 90,185,090 (GRCm39)	Y1166H	probably damaging	Het
Egln3	T	C	12: 54,227,447 (GRCm39)		probably null	Het
Fetub	C	T	16: 22,751,081 (GRCm39)	R143C	probably damaging	Het
Fhad1	T	A	4: 141,690,768 (GRCm39)	M434L	probably benign	Het
Gfm1	T	G	3: 67,342,955 (GRCm39)	M163R	probably damaging	Het
Isg15	A	T	4: 156,284,279 (GRCm39)	L83Q	probably damaging	Het
Ly9	GCCTTTGGGGGACAATTCC	GCC	1: 171,432,755 (GRCm39)		probably null	Het
Med1	G	T	11: 98,047,206 (GRCm39)		probably benign	Het
Mrc2	T	A	11: 105,227,468 (GRCm39)	V567D	probably damaging	Het
Nnmt	G	T	9: 48,514,780 (GRCm39)	T79K	probably benign	Het
Opn1sw	G	A	6: 29,379,840 (GRCm39)		probably benign	Het
Optc	G	T	1: 133,828,714 (GRCm39)		probably benign	Het
Pcdh17	C	T	14: 84,685,980 (GRCm39)	P816S	probably benign	Het
Pcdhb15	T	C	18: 37,607,502 (GRCm39)	S245P	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Sacs	T	C	14: 61,445,288 (GRCm39)	F2445L	probably benign	Het
Sel1l	T	C	12: 91,778,652 (GRCm39)	N721S	probably benign	Het
Slc35e2	C	T	4: 155,694,483 (GRCm39)	P10L	probably benign	Het
Slc7a11	C	G	3: 50,326,780 (GRCm39)	V494L	probably benign	Het
Sulf2	C	A	2: 165,923,426 (GRCm39)	A598S	probably benign	Het
Tph2	A	T	10: 115,020,732 (GRCm39)	D21E	probably damaging	Het
Trf	T	C	9: 103,103,324 (GRCm39)	Y110C	possibly damaging	Het
Ttn	C	T	2: 76,628,202 (GRCm39)	E14653K	possibly damaging	Het
Vmn2r18	A	G	5: 151,485,724 (GRCm39)	I590T	possibly damaging	Het
Zfp607b	G	T	7: 27,402,889 (GRCm39)	K448N	probably benign	Het
Zfp689	T	C	7: 127,048,071 (GRCm39)		probably benign	Het
Zfp709	C	T	8: 72,643,999 (GRCm39)	P476L	probably 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
IGL02094:Adcy10	APN	1	165,398,189 (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
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

Predicted Primers

PCR Primer
(F):5'- CACAAGTAACAATCTTCCCTGGA -3'
(R):5'- TACAAACATTTTACTAGCTTCTGTGT -3'

Sequencing Primer
(F):5'- ATCTTCCCTGGATGCAAAGC -3'
(R):5'- ATTCCTGCCACCTCGAAA -3'

Posted On

2017-12-01