Mutagenetix > Incidental Mutation

Incidental Mutation 'R4538:Adcy10'

333398

Institutional Source

Beutler Lab

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

soluble adenylyl cyclase, Sacy, 4930431D04Rik, sAC

MMRRC Submission

041775-MU

Accession Numbers

Essential gene?

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

Stock #

R4538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165312752-165404343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165340696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 234 (M234L)

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: M234L

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: M234L

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: M234L

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: M234L

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: M234L

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: M234L

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: M234L

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
AA Change: M234L

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (36/37)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	G	A	12: 107,455,096 (GRCm39)	V61M	unknown	Het
Abcc9	A	G	6: 142,560,138 (GRCm39)		probably null	Het
B4galt3	T	C	1: 171,100,280 (GRCm39)	F150S	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Chd4	A	T	6: 125,097,649 (GRCm39)	D1377V	probably damaging	Het
Cope	T	A	8: 70,759,157 (GRCm39)	I16N	probably damaging	Het
Cpd	A	T	11: 76,681,825 (GRCm39)	N1140K	probably benign	Het
Cyp7b1	A	T	3: 18,151,745 (GRCm39)	I156N	possibly damaging	Het
Depdc5	T	C	5: 33,141,290 (GRCm39)	Y1397H	probably damaging	Het
Dnajc13	CT	C	9: 104,064,004 (GRCm39)		probably benign	Het
Ebf1	T	A	11: 44,798,822 (GRCm39)	D289E	probably benign	Het
Egflam	T	C	15: 7,281,918 (GRCm39)	Y406C	probably damaging	Het
Hfm1	T	C	5: 107,022,756 (GRCm39)	T949A	possibly damaging	Het
Ifih1	A	G	2: 62,447,756 (GRCm39)	V316A	probably damaging	Het
Kif1a	C	T	1: 93,004,769 (GRCm39)	V142M	probably damaging	Het
Kng2	C	A	16: 22,806,813 (GRCm39)	R462L	probably benign	Het
Lrrn1	T	A	6: 107,545,598 (GRCm39)	N465K	probably benign	Het
Mdn1	T	A	4: 32,722,334 (GRCm39)	L2372Q	probably damaging	Het
Men1	T	C	19: 6,386,784 (GRCm39)	F159L	possibly damaging	Het
Mul1	T	C	4: 138,165,706 (GRCm39)		probably benign	Het
Or2l13b	A	T	16: 19,349,381 (GRCm39)	C96*	probably null	Het
Pramel6	T	G	2: 87,338,903 (GRCm39)	H34Q	probably benign	Het
Ripk4	A	T	16: 97,544,352 (GRCm39)	L702*	probably null	Het
Slc5a4a	C	T	10: 76,013,929 (GRCm39)	R379*	probably null	Het
Slc9a3	T	C	13: 74,309,851 (GRCm39)	V513A	possibly damaging	Het
Strada	A	C	11: 106,058,651 (GRCm39)	M245R	probably damaging	Het
Sycp1	A	T	3: 102,748,278 (GRCm39)	I838K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Trbv17	A	C	6: 41,140,286 (GRCm39)	N47T	probably benign	Het
Washc3	T	A	10: 88,051,871 (GRCm39)	S87T	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGCTTGAGCAAGACCCTATC -3'
(R):5'- ATGTCAAGGTCAAGGGCCAG -3'

Sequencing Primer
(F):5'- CATTCGGAACTATACGGTGAGATCC -3'
(R):5'- TCAAGGGCCAGAGCTGTG -3'

Posted On

2015-08-18