Mutagenetix > Incidental Mutation

Incidental Mutation 'R8278:Adcy10'

638052

Institutional Source

Beutler Lab

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

soluble adenylyl cyclase, Sacy, 4930431D04Rik, sAC

MMRRC Submission

067701-MU

Accession Numbers

Essential gene?

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

Stock #

R8278 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165312752-165404343 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165330857 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 40 (D40V)

Ref Sequence

ENSEMBL: ENSMUSP00000027852 (fasta)

Gene Model

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

AlphaFold

Q8C0T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027852
AA Change: D40V

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

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: D40V

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: D40V

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

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: D40V

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: D40V

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

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: D40V

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

possibly damaging
Transcript: ENSMUST00000148550
AA Change: D40V

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
AA Change: D40V

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 damaging
Transcript: ENSMUST00000155216
AA Change: D40V

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

SMART Domains

Protein: ENSMUSP00000137744
Gene: ENSMUSG00000026567
AA Change: D40V

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,668,040 (GRCm39)	Q477L	probably benign	Het
Cab39l	T	C	14: 59,776,562 (GRCm39)	Y248H	probably damaging	Het
Casr	G	T	16: 36,336,011 (GRCm39)	D99E	probably damaging	Het
Cdh16	T	C	8: 105,345,107 (GRCm39)	E364G	probably benign	Het
Cep104	C	T	4: 154,068,122 (GRCm39)	T189I	possibly damaging	Het
Cfap418	T	A	4: 10,882,474 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,862,485 (GRCm39)		probably null	Het
Chit1	G	A	1: 134,078,332 (GRCm39)	R380Q	probably benign	Het
Cpne2	A	G	8: 95,281,316 (GRCm39)	K174R	probably damaging	Het
Dchs2	T	A	3: 83,178,310 (GRCm39)	I1121N	probably damaging	Het
Fgf6	A	T	6: 126,992,781 (GRCm39)	Y78F	probably damaging	Het
H2-T10	A	T	17: 36,429,832 (GRCm39)	N320K	probably benign	Het
Heatr3	A	T	8: 88,883,361 (GRCm39)	N398I	possibly damaging	Het
Hrh4	T	C	18: 13,140,284 (GRCm39)	S60P	probably damaging	Het
Ikbip	A	G	10: 90,932,190 (GRCm39)	H278R	probably benign	Het
Jmy	A	T	13: 93,601,224 (GRCm39)	I394N	probably damaging	Het
Klhl8	T	C	5: 104,022,107 (GRCm39)	E314G	probably benign	Het
Lhx9	A	T	1: 138,766,324 (GRCm39)	C164S	probably damaging	Het
Loxl3	G	T	6: 83,025,697 (GRCm39)	G352C	probably damaging	Het
Lrrk1	A	G	7: 65,928,432 (GRCm39)	F1232S	probably benign	Het
Mpnd	A	G	17: 56,319,469 (GRCm39)	T311A	probably benign	Het
Mpp7	A	T	18: 7,444,025 (GRCm39)	D132E	probably benign	Het
Nck2	T	C	1: 43,593,740 (GRCm39)	S316P	probably damaging	Het
Nckap5	T	C	1: 125,955,509 (GRCm39)	S348G	probably damaging	Het
Nyap1	C	T	5: 137,730,077 (GRCm39)	R790H	probably damaging	Het
Or5b124	C	T	19: 13,610,958 (GRCm39)	T161I	possibly damaging	Het
Pdcd11	G	A	19: 47,094,736 (GRCm39)	V507I	probably damaging	Het
Pdzd2	T	C	15: 12,375,995 (GRCm39)	H1380R	probably benign	Het
Pgap1	C	T	1: 54,529,430 (GRCm39)	V763I	probably benign	Het
Pnma8b	G	T	7: 16,680,263 (GRCm39)	V416L	probably damaging	Het
Prkn	A	T	17: 12,269,609 (GRCm39)	N421Y	probably benign	Het
Prpf4	T	C	4: 62,333,493 (GRCm39)		probably null	Het
Psmb5	C	T	14: 54,855,342 (GRCm39)	G36D	probably benign	Het
Ptprq	A	G	10: 107,522,239 (GRCm39)	S571P	possibly damaging	Het
Rap1gap	A	C	4: 137,444,748 (GRCm39)	S254R	probably damaging	Het
Rufy2	A	T	10: 62,843,472 (GRCm39)	D492V	probably benign	Het
Ryr2	C	A	13: 11,610,392 (GRCm39)	E4145*	probably null	Het
Sgsm1	A	G	5: 113,407,958 (GRCm39)	F898L	probably damaging	Het
Slc26a9	C	A	1: 131,689,514 (GRCm39)	A487D	possibly damaging	Het
Slc6a15	T	C	10: 103,229,890 (GRCm39)		probably null	Het
Smad9	A	T	3: 54,696,687 (GRCm39)	T251S	probably benign	Het
Socs3	A	T	11: 117,858,478 (GRCm39)	C193*	probably null	Het
Sox6	T	A	7: 115,076,199 (GRCm39)	D813V	probably damaging	Het
Taf2	A	T	15: 54,929,361 (GRCm39)	L65*	probably null	Het
Taf6	G	A	5: 138,178,097 (GRCm39)	A468V	probably benign	Het
Tmem71	T	C	15: 66,426,961 (GRCm39)	D78G	probably damaging	Het
Tob2	T	C	15: 81,735,288 (GRCm39)	N227S	probably benign	Het
Trim34a	C	A	7: 103,898,623 (GRCm39)	Q180K	probably damaging	Het
Ugt1a9	T	C	1: 87,999,378 (GRCm39)	L276P	possibly damaging	Het
Wdr33	G	A	18: 31,960,405 (GRCm39)	R23Q	possibly damaging	Het
Wnt7b	T	G	15: 85,427,887 (GRCm39)	N189H		Het
Zfp609	G	A	9: 65,604,804 (GRCm39)	A1308V	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
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
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
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'- AAATGCATCCGTTAGATTCCCTC -3'
(R):5'- TGTGTGCACAGTGAGATGAG -3'

Sequencing Primer
(F):5'- CTTTCCAGAAGACCTACTTGGGGAG -3'
(R):5'- GCACAGTGAGATGAGCTGTTC -3'

Posted On

2020-07-28