Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00566:Adcy10'

332634

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

sAC, Sacy, soluble adenylyl cyclase

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

IGL00566

Quality Score

Status

Chromosome

Chromosomal Location

165485183-165576774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165551914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 915 (E915V)

Ref Sequence

ENSEMBL: ENSMUSP00000027852 (fasta)

Gene Model

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

AlphaFold

Q8C0T9

Predicted Effect

probably benign
Transcript: ENSMUST00000027852
AA Change: E915V

PolyPhen 2 Score 0.448 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: E915V

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: E915V

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: E915V

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: E915V

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: E915V

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

noncoding transcript
Transcript: ENSMUST00000124037

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

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,625,391 (GRCm38)	T173A	possibly damaging	Het
Acaa2	G	A	18: 74,793,378 (GRCm38)	G135E	probably damaging	Het
Actr2	C	A	11: 20,072,487 (GRCm38)	R328L	possibly damaging	Het
Adam1b	T	C	5: 121,500,993 (GRCm38)	D663G	probably damaging	Het
Antxr2	G	A	5: 97,886,607 (GRCm38)		probably benign	Het
Ckap5	T	A	2: 91,568,627 (GRCm38)		probably benign	Het
Clec4g	T	C	8: 3,716,410 (GRCm38)		probably benign	Het
Cramp1	A	G	17: 24,983,951 (GRCm38)	V368A	probably benign	Het
Diaph3	C	T	14: 87,002,871 (GRCm38)	R248K	probably benign	Het
Fut10	T	C	8: 31,235,684 (GRCm38)	Y156H	probably damaging	Het
Ice2	T	C	9: 69,416,113 (GRCm38)	V630A	probably benign	Het
Ints13	A	T	6: 146,565,676 (GRCm38)	V179D	probably damaging	Het
Kcnj2	A	C	11: 111,071,827 (GRCm38)	E15A	probably damaging	Het
Kifbp	G	T	10: 62,559,339 (GRCm38)	S508*	probably null	Het
Lpcat2b	T	A	5: 107,433,804 (GRCm38)	L333Q	probably damaging	Het
Lrguk	A	C	6: 34,056,174 (GRCm38)	L258F	probably damaging	Het
M6pr	A	T	6: 122,313,378 (GRCm38)	K100M	probably damaging	Het
Nop14	T	C	5: 34,641,313 (GRCm38)		probably benign	Het
Pcdh20	A	G	14: 88,467,881 (GRCm38)	V661A	possibly damaging	Het
Vcan	A	T	13: 89,688,979 (GRCm38)	H2815Q	probably benign	Het

Other mutations in Adcy10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00731:Adcy10	APN	1	165,572,614 (GRCm38)	missense	probably benign
IGL01099:Adcy10	APN	1	165,539,842 (GRCm38)	missense	probably benign	0.21
IGL01464:Adcy10	APN	1	165,546,587 (GRCm38)	missense	probably damaging	1.00
IGL01729:Adcy10	APN	1	165,513,168 (GRCm38)	critical splice donor site	probably null
IGL02002:Adcy10	APN	1	165,521,843 (GRCm38)	missense	probably damaging	1.00
IGL02094:Adcy10	APN	1	165,570,620 (GRCm38)	missense	probably damaging	1.00
IGL02132:Adcy10	APN	1	165,572,543 (GRCm38)	missense	probably damaging	0.96
IGL02276:Adcy10	APN	1	165,559,128 (GRCm38)	missense	probably damaging	0.96
IGL02408:Adcy10	APN	1	165,538,380 (GRCm38)	missense	probably damaging	1.00
IGL02410:Adcy10	APN	1	165,510,408 (GRCm38)	missense	probably damaging	1.00
IGL02445:Adcy10	APN	1	165,570,744 (GRCm38)	missense	possibly damaging	0.85
IGL02470:Adcy10	APN	1	165,567,726 (GRCm38)	missense	probably damaging	1.00
IGL02551:Adcy10	APN	1	165,543,233 (GRCm38)	missense	probably damaging	1.00
IGL02606:Adcy10	APN	1	165,519,518 (GRCm38)	missense	possibly damaging	0.88
IGL02609:Adcy10	APN	1	165,538,475 (GRCm38)	nonsense	probably null
Bugged	UTSW	1	165,564,237 (GRCm38)	missense	probably damaging	0.99
debye	UTSW	1	165,551,361 (GRCm38)	critical splice donor site	probably null
malaysian	UTSW	1	165,513,127 (GRCm38)	missense	probably benign	0.38
singaporean	UTSW	1	165,518,312 (GRCm38)	missense	probably damaging	0.98
PIT4514001:Adcy10	UTSW	1	165,556,791 (GRCm38)	missense	probably benign	0.28
R0046:Adcy10	UTSW	1	165,539,834 (GRCm38)	missense	probably damaging	0.99
R0046:Adcy10	UTSW	1	165,539,834 (GRCm38)	missense	probably damaging	0.99
R0276:Adcy10	UTSW	1	165,572,591 (GRCm38)	missense	possibly damaging	0.88
R0324:Adcy10	UTSW	1	165,564,249 (GRCm38)	missense	probably benign	0.00
R0433:Adcy10	UTSW	1	165,552,022 (GRCm38)	missense	probably damaging	1.00
R0454:Adcy10	UTSW	1	165,570,728 (GRCm38)	missense	probably damaging	1.00
R0501:Adcy10	UTSW	1	165,510,390 (GRCm38)	missense	probably damaging	1.00
R0513:Adcy10	UTSW	1	165,519,519 (GRCm38)	missense	probably benign	0.04
R0533:Adcy10	UTSW	1	165,564,023 (GRCm38)	missense	probably benign	0.05
R0550:Adcy10	UTSW	1	165,565,315 (GRCm38)	missense	probably benign	0.00
R0554:Adcy10	UTSW	1	165,513,130 (GRCm38)	missense	probably benign
R0597:Adcy10	UTSW	1	165,525,062 (GRCm38)	critical splice donor site	probably null
R0629:Adcy10	UTSW	1	165,543,105 (GRCm38)	missense	probably damaging	1.00
R1421:Adcy10	UTSW	1	165,563,947 (GRCm38)	missense	probably damaging	0.98
R1454:Adcy10	UTSW	1	165,515,380 (GRCm38)	missense	possibly damaging	0.66
R1524:Adcy10	UTSW	1	165,518,403 (GRCm38)	missense	probably damaging	1.00
R1534:Adcy10	UTSW	1	165,518,312 (GRCm38)	missense	probably damaging	0.98
R1594:Adcy10	UTSW	1	165,525,033 (GRCm38)	missense	probably benign	0.02
R1690:Adcy10	UTSW	1	165,519,925 (GRCm38)	missense	probably damaging	1.00
R1842:Adcy10	UTSW	1	165,503,243 (GRCm38)	missense	probably damaging	1.00
R1859:Adcy10	UTSW	1	165,521,961 (GRCm38)	missense	probably damaging	1.00
R1885:Adcy10	UTSW	1	165,570,808 (GRCm38)	missense	probably benign	0.02
R1929:Adcy10	UTSW	1	165,510,297 (GRCm38)	missense	probably damaging	1.00
R2005:Adcy10	UTSW	1	165,525,022 (GRCm38)	missense	probably benign	0.02
R2211:Adcy10	UTSW	1	165,518,212 (GRCm38)	missense	probably damaging	1.00
R2225:Adcy10	UTSW	1	165,518,260 (GRCm38)	missense	probably damaging	1.00
R2227:Adcy10	UTSW	1	165,518,260 (GRCm38)	missense	probably damaging	1.00
R2272:Adcy10	UTSW	1	165,510,297 (GRCm38)	missense	probably damaging	1.00
R2421:Adcy10	UTSW	1	165,558,597 (GRCm38)	missense	probably damaging	0.97
R3614:Adcy10	UTSW	1	165,575,727 (GRCm38)	missense	probably benign	0.38
R4538:Adcy10	UTSW	1	165,513,127 (GRCm38)	missense	probably benign	0.38
R4644:Adcy10	UTSW	1	165,551,361 (GRCm38)	critical splice donor site	probably null
R4649:Adcy10	UTSW	1	165,504,049 (GRCm38)	missense	probably damaging	1.00
R4832:Adcy10	UTSW	1	165,506,644 (GRCm38)	missense	probably damaging	1.00
R4853:Adcy10	UTSW	1	165,548,213 (GRCm38)	missense	probably benign
R4916:Adcy10	UTSW	1	165,518,246 (GRCm38)	missense	probably damaging	1.00
R4951:Adcy10	UTSW	1	165,563,963 (GRCm38)	missense	probably damaging	1.00
R4972:Adcy10	UTSW	1	165,556,862 (GRCm38)	missense	probably damaging	1.00
R5116:Adcy10	UTSW	1	165,519,500 (GRCm38)	missense	probably damaging	1.00
R5377:Adcy10	UTSW	1	165,519,895 (GRCm38)	missense	probably damaging	1.00
R5442:Adcy10	UTSW	1	165,513,140 (GRCm38)	missense	probably benign	0.43
R5692:Adcy10	UTSW	1	165,515,306 (GRCm38)	missense	probably benign	0.36
R5949:Adcy10	UTSW	1	165,539,817 (GRCm38)	missense	possibly damaging	0.79
R5998:Adcy10	UTSW	1	165,541,649 (GRCm38)	missense	probably benign	0.19
R6238:Adcy10	UTSW	1	165,575,728 (GRCm38)	nonsense	probably null
R6455:Adcy10	UTSW	1	165,518,374 (GRCm38)	missense	probably damaging	1.00
R6920:Adcy10	UTSW	1	165,575,658 (GRCm38)	missense	probably damaging	1.00
R6935:Adcy10	UTSW	1	165,506,635 (GRCm38)	missense	probably benign	0.21
R6957:Adcy10	UTSW	1	165,564,285 (GRCm38)	missense	probably damaging	1.00
R6970:Adcy10	UTSW	1	165,556,916 (GRCm38)	missense	probably benign	0.02
R7027:Adcy10	UTSW	1	165,518,246 (GRCm38)	missense	probably damaging	1.00
R7049:Adcy10	UTSW	1	165,539,874 (GRCm38)	missense	probably damaging	1.00
R7062:Adcy10	UTSW	1	165,538,522 (GRCm38)	missense	probably benign	0.27
R7130:Adcy10	UTSW	1	165,504,047 (GRCm38)	missense	probably damaging	1.00
R7144:Adcy10	UTSW	1	165,510,370 (GRCm38)	missense	probably benign	0.01
R7182:Adcy10	UTSW	1	165,543,470 (GRCm38)	splice site	probably null
R7228:Adcy10	UTSW	1	165,510,272 (GRCm38)	missense	probably damaging	1.00
R7384:Adcy10	UTSW	1	165,576,608 (GRCm38)	missense	unknown
R7561:Adcy10	UTSW	1	165,559,172 (GRCm38)	missense	possibly damaging	0.94
R7603:Adcy10	UTSW	1	165,564,237 (GRCm38)	missense	probably damaging	0.99
R7693:Adcy10	UTSW	1	165,570,771 (GRCm38)	missense	probably benign	0.01
R7812:Adcy10	UTSW	1	165,515,369 (GRCm38)	missense	probably damaging	1.00
R7905:Adcy10	UTSW	1	165,513,168 (GRCm38)	critical splice donor site	probably null
R8040:Adcy10	UTSW	1	165,552,024 (GRCm38)	missense	probably damaging	1.00
R8242:Adcy10	UTSW	1	165,546,549 (GRCm38)	missense	possibly damaging	0.82
R8278:Adcy10	UTSW	1	165,503,288 (GRCm38)	missense	probably damaging	1.00
R8282:Adcy10	UTSW	1	165,510,337 (GRCm38)	missense	probably benign	0.34
R8812:Adcy10	UTSW	1	165,551,298 (GRCm38)	missense	probably damaging	0.98
R9039:Adcy10	UTSW	1	165,518,345 (GRCm38)	missense	probably damaging	1.00
R9178:Adcy10	UTSW	1	165,575,649 (GRCm38)	missense	possibly damaging	0.79
R9244:Adcy10	UTSW	1	165,543,110 (GRCm38)	missense	probably benign	0.00
R9712:Adcy10	UTSW	1	165,513,112 (GRCm38)	missense	probably damaging	1.00
RF018:Adcy10	UTSW	1	165,552,109 (GRCm38)	missense	probably damaging	1.00
Z1177:Adcy10	UTSW	1	165,510,276 (GRCm38)	missense	possibly damaging	0.89

Posted On

2015-08-05