Mutagenetix > Incidental Mutation

Incidental Mutation 'R2227:Adcy10'

239771

Institutional Source

Beutler Lab

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

sAC, Sacy, soluble adenylyl cyclase

MMRRC Submission

040228-MU

Accession Numbers

Essential gene?

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

Stock #

R2227 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

165485183-165576774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165518260 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 293 (T293A)

Ref Sequence

ENSEMBL: ENSMUSP00000137959 (fasta)

Gene Model

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

AlphaFold

Q8C0T9

Predicted Effect

probably damaging
Transcript: ENSMUST00000027852
AA Change: T293A

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

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: T293A

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: T293A

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

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: T293A

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: T293A

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

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: T293A

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: ENSMUST00000148550
AA Change: T293A

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

SMART Domains

Protein: ENSMUSP00000137959
Gene: ENSMUSG00000026567
AA Change: T293A

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

0.5700

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.3%

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	A	14: 60,088,219 (GRCm38)		probably benign	Het
Abtb1	A	C	6: 88,836,367 (GRCm38)	L439R	probably damaging	Het
Agl	A	T	3: 116,788,312 (GRCm38)	V306D	possibly damaging	Het
Alpk2	T	A	18: 65,378,076 (GRCm38)	T17S	probably damaging	Het
Ar	T	A	X: 98,151,331 (GRCm38)	M517K	probably benign	Het
Atg9b	A	G	5: 24,386,395 (GRCm38)	V735A	possibly damaging	Het
BB014433	C	A	8: 15,041,717 (GRCm38)	A379S	probably benign	Het
BC005561	T	A	5: 104,519,420 (GRCm38)	Y603N	probably damaging	Het
Ccdc33	A	G	9: 58,082,022 (GRCm38)	S123P	probably damaging	Het
Ccl2	G	T	11: 82,036,601 (GRCm38)		probably null	Het
Cct2	T	C	10: 117,053,017 (GRCm38)	R526G	probably null	Het
Cep55	T	C	19: 38,062,634 (GRCm38)	M164T	probably benign	Het
Clec2d	G	A	6: 129,184,251 (GRCm38)	A104T	probably benign	Het
Cyp3a11	A	G	5: 145,868,547 (GRCm38)	L220P	possibly damaging	Het
Dgkk	T	A	X: 6,875,248 (GRCm38)	D102E	probably damaging	Het
Emcn	T	C	3: 137,404,017 (GRCm38)	I140T	possibly damaging	Het
Exoc2	T	A	13: 30,864,884 (GRCm38)	I729L	probably benign	Het
Fbxl20	T	C	11: 98,090,849 (GRCm38)	I338V	probably benign	Het
Gm4985	T	A	X: 23,958,934 (GRCm38)	M1L	probably null	Het
Gm6614	T	G	6: 141,992,361 (GRCm38)	E277D	possibly damaging	Het
Gucy2c	G	A	6: 136,702,760 (GRCm38)	T943I	probably damaging	Het
Hdac9	C	T	12: 34,407,802 (GRCm38)	V251I	probably benign	Het
Hoxa10	T	C	6: 52,232,636 (GRCm38)	E52G	probably damaging	Het
Il17rb	A	T	14: 30,006,081 (GRCm38)	S56R	probably benign	Het
Knl1	A	G	2: 119,072,000 (GRCm38)	D1394G	probably damaging	Het
Kpna1	G	A	16: 36,031,221 (GRCm38)	A392T	probably damaging	Het
Krt6b	A	G	15: 101,679,122 (GRCm38)	V179A	probably damaging	Het
Lpar5	A	T	6: 125,081,135 (GRCm38)		probably null	Het
March7	A	G	2: 60,229,846 (GRCm38)	R106G	probably benign	Het
Mtus1	C	T	8: 41,082,775 (GRCm38)	V635M	probably damaging	Het
Myl1	T	C	1: 66,944,815 (GRCm38)	K31E	possibly damaging	Het
Myt1l	T	A	12: 29,826,970 (GRCm38)	L207I	unknown	Het
Naalad2	A	T	9: 18,376,533 (GRCm38)	V267E	possibly damaging	Het
Pkhd1l1	T	C	15: 44,512,792 (GRCm38)	I950T	possibly damaging	Het
Ppp1r9a	G	T	6: 5,154,074 (GRCm38)	R1081L	probably benign	Het
Rc3h1	T	C	1: 160,963,542 (GRCm38)	I932T	probably benign	Het
Rubcnl	G	A	14: 75,042,392 (GRCm38)	R405Q	probably benign	Het
Sgsm3	A	G	15: 81,003,868 (GRCm38)	E53G	probably damaging	Het
Spin2g	A	T	X: 34,237,275 (GRCm38)	I171N	possibly damaging	Het
Srsf6	G	A	2: 162,931,699 (GRCm38)	S10N	probably damaging	Het
Tex45	A	G	8: 3,479,249 (GRCm38)	T245A	probably benign	Het
Tnn	A	T	1: 160,147,465 (GRCm38)	C131S	probably damaging	Het
Tnnt2	A	G	1: 135,843,791 (GRCm38)		probably benign	Het
Tns2	C	T	15: 102,108,934 (GRCm38)	R281C	probably damaging	Het
Vmn1r86	T	C	7: 13,102,920 (GRCm38)	I10V	probably benign	Het
Xpot	T	C	10: 121,622,860 (GRCm38)	R20G	probably damaging	Het
Zfp735	T	A	11: 73,711,396 (GRCm38)	L389I	possibly damaging	Het
Zfp735	T	G	11: 73,711,397 (GRCm38)	L389*	probably null	Het

Other mutations in Adcy10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Adcy10	APN	1	165,551,914 (GRCm38)	missense	probably benign	0.45
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
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

Predicted Primers

PCR Primer
(F):5'- TGTGACTTGTGCCTCACAC -3'
(R):5'- GTCCTTGGACTCAGTGCTAACC -3'

Sequencing Primer
(F):5'- CACACTGAGATAGCTTCAGTTGCTG -3'
(R):5'- GTGCTAACCTTACACTACGGG -3'

Posted On

2014-10-15