Mutagenetix > Incidental Mutation

Incidental Mutation 'R5998:Adcy10'

480665

Institutional Source

Beutler Lab

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

sAC, Sacy, soluble adenylyl cyclase

MMRRC Submission

044177-MU

Accession Numbers

Essential gene?

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

Stock #

R5998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

165485183-165576774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 165541649 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 630 (I630V)

Ref Sequence

ENSEMBL: ENSMUSP00000107067 (fasta)

Gene Model

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

AlphaFold

Q8C0T9

Predicted Effect

probably benign
Transcript: ENSMUST00000027852
AA Change: I630V

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: I630V

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: I630V

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: I630V

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: I630V

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: I630V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195194

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.1%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,567,708 (GRCm38)	V4437I	probably damaging	Het
Acot12	T	C	13: 91,757,534 (GRCm38)	I71T	possibly damaging	Het
Adcy3	T	A	12: 4,198,348 (GRCm38)	V470E	probably damaging	Het
Adcy6	C	A	15: 98,594,354 (GRCm38)	E1008*	probably null	Het
Adgrb3	A	T	1: 25,431,501 (GRCm38)		probably null	Het
Ahrr	T	A	13: 74,213,836 (GRCm38)	S515C	probably damaging	Het
Ankrd52	T	C	10: 128,383,123 (GRCm38)	I416T	probably damaging	Het
Arhgap45	T	C	10: 80,030,950 (GRCm38)	S1096P	probably damaging	Het
Atp8b4	A	G	2: 126,433,867 (GRCm38)		probably null	Het
Bcl6b	A	C	11: 70,228,183 (GRCm38)	I200M	probably damaging	Het
Btbd19	T	A	4: 117,120,999 (GRCm38)	E234V	probably benign	Het
Csmd1	G	A	8: 15,910,443 (GRCm38)	T3324I	probably damaging	Het
Cyp2a5	G	A	7: 26,837,153 (GRCm38)	V186I	probably benign	Het
Glb1l2	G	A	9: 26,766,003 (GRCm38)	T533I	possibly damaging	Het
Gm10471	T	C	5: 26,084,706 (GRCm38)	D241G	probably damaging	Het
Gm8994	T	C	6: 136,328,624 (GRCm38)	F28L	probably benign	Het
Helz	G	T	11: 107,685,534 (GRCm38)	E1851*	probably null	Het
Igkv15-103	T	A	6: 68,437,505 (GRCm38)	F13Y	unknown	Het
Kcnq2	T	C	2: 181,087,008 (GRCm38)	H548R	probably damaging	Het
Mcm3ap	T	C	10: 76,481,142 (GRCm38)		probably null	Het
Micall2	T	C	5: 139,706,911 (GRCm38)		probably null	Het
Mill2	A	G	7: 18,840,064 (GRCm38)	R25G	probably benign	Het
Mtcl1	G	A	17: 66,368,280 (GRCm38)	H1041Y	probably damaging	Het
Olfr180	T	C	16: 58,916,630 (GRCm38)	T4A	probably benign	Het
Olfr926	G	A	9: 38,877,869 (GRCm38)	R231H	probably damaging	Het
Pigt	A	G	2: 164,507,454 (GRCm38)	E559G	possibly damaging	Het
Pkdrej	A	G	15: 85,815,453 (GRCm38)	V2094A	probably benign	Het
Ppp1r32	A	T	19: 10,481,352 (GRCm38)	W105R	possibly damaging	Het
Prkdc	T	A	16: 15,783,157 (GRCm38)	L2894Q	probably damaging	Het
Tmem63b	A	G	17: 45,670,000 (GRCm38)	V256A	possibly damaging	Het
Zfp516	T	C	18: 82,956,514 (GRCm38)	L279P	probably damaging	Het
Zfp780b	T	A	7: 27,964,622 (GRCm38)	K169N	probably benign	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
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
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'- GTGAAGTAGAGCATTCAGGCTG -3'
(R):5'- GAACAGACTTGGCTCAGGTTCG -3'

Sequencing Primer
(F):5'- TGTGGAATGTAACACATGAGCATCC -3'
(R):5'- GCTCAGGTTCGGGAGGATG -3'

Posted On

2017-06-26