Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02445:Adcy10'

293548

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 #

IGL02445

Quality Score

Status

Chromosome

Chromosomal Location

165485183-165576774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 165570744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1470 (V1470G)

Ref Sequence

ENSEMBL: ENSMUSP00000107067 (fasta)

Gene Model

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

AlphaFold

Q8C0T9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027852
AA Change: V1470G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: V1470G

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

possibly damaging
Transcript: ENSMUST00000111439
AA Change: V1470G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: V1470G

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: ENSMUST00000111440
AA Change: V1470G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: V1470G

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

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

noncoding transcript
Transcript: ENSMUST00000158666

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432K21Rik	T	A	8: 84,159,508 (GRCm38)	M31K	probably benign	Het
Acacb	C	T	5: 114,245,137 (GRCm38)	T2127M	probably damaging	Het
Acp2	A	G	2: 91,206,261 (GRCm38)	D175G	possibly damaging	Het
Adamts12	T	C	15: 11,286,712 (GRCm38)	L801P	probably damaging	Het
Ankar	T	G	1: 72,666,365 (GRCm38)	K829Q	probably benign	Het
Arhgef10l	T	C	4: 140,547,007 (GRCm38)	Y531C	probably benign	Het
Atm	T	C	9: 53,454,330 (GRCm38)	I2590V	probably benign	Het
Cblb	T	C	16: 52,166,305 (GRCm38)	L485P	probably damaging	Het
Col4a1	T	C	8: 11,233,911 (GRCm38)		probably benign	Het
Coprs	T	C	8: 13,885,797 (GRCm38)	K74R	possibly damaging	Het
Cul3	A	T	1: 80,304,169 (GRCm38)	L31M	possibly damaging	Het
Cyp3a59	C	A	5: 146,096,653 (GRCm38)	Q200K	probably benign	Het
Ddx19b	C	A	8: 111,008,824 (GRCm38)	V402L	probably damaging	Het
Disc1	T	A	8: 125,148,403 (GRCm38)		probably benign	Het
Dsg4	C	T	18: 20,446,250 (GRCm38)		probably benign	Het
Dspp	A	C	5: 104,177,097 (GRCm38)	Y442S	probably damaging	Het
Dtl	C	T	1: 191,558,060 (GRCm38)		probably null	Het
Ezh1	A	C	11: 101,210,687 (GRCm38)	V175G	possibly damaging	Het
Hepacam2	C	T	6: 3,483,481 (GRCm38)	G100D	probably damaging	Het
Herc1	T	A	9: 66,433,482 (GRCm38)	H1704Q	possibly damaging	Het
Kif26a	T	C	12: 112,173,743 (GRCm38)	S469P	probably damaging	Het
Lefty1	T	C	1: 180,937,677 (GRCm38)	M270T	probably benign	Het
Nap1l3	A	T	X: 122,396,055 (GRCm38)	V322D	probably damaging	Het
Ndufv2	A	G	17: 66,080,894 (GRCm38)		probably benign	Het
Olfr1179	G	A	2: 88,402,112 (GRCm38)	T274I	possibly damaging	Het
Olfr126	A	T	17: 37,851,117 (GRCm38)	H175L	probably damaging	Het
Olfr922	T	C	9: 38,815,605 (GRCm38)	I34T	possibly damaging	Het
Otol1	A	T	3: 70,028,034 (GRCm38)	D453V	probably damaging	Het
Papolb	G	A	5: 142,528,725 (GRCm38)	H388Y	probably benign	Het
Ppp1r10	A	G	17: 35,926,202 (GRCm38)	E128G	probably damaging	Het
Prss12	T	A	3: 123,487,020 (GRCm38)	D451E	probably damaging	Het
Psmc1	T	C	12: 100,114,828 (GRCm38)		probably benign	Het
Pygo1	T	A	9: 72,925,940 (GRCm38)	I10N	probably benign	Het
Rab31	C	T	17: 65,722,003 (GRCm38)		probably null	Het
Ret	G	A	6: 118,181,899 (GRCm38)	T184I	probably damaging	Het
Rhd	A	T	4: 134,884,170 (GRCm38)	M214L	possibly damaging	Het
Ripor3	C	A	2: 167,992,762 (GRCm38)		probably benign	Het
Sec16a	A	G	2: 26,422,040 (GRCm38)	L2036P	probably benign	Het
Slc26a3	C	A	12: 31,457,052 (GRCm38)	D335E	possibly damaging	Het
Ssfa2	G	A	2: 79,657,498 (GRCm38)	E642K	probably damaging	Het
Taf6	A	G	5: 138,184,494 (GRCm38)		probably benign	Het
Tnk2	T	C	16: 32,675,590 (GRCm38)	V442A	probably benign	Het
Virma	A	G	4: 11,527,029 (GRCm38)	M1143V	probably damaging	Het
Vmn2r77	A	T	7: 86,803,640 (GRCm38)	R522*	probably null	Het
Vmn2r-ps129	A	G	17: 23,008,419 (GRCm38)		noncoding transcript	Het
Zfp473	A	G	7: 44,733,683 (GRCm38)	C408R	probably damaging	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
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

2015-04-16