Mutagenetix > Incidental Mutation

Incidental Mutation 'R5949:Adcy10'

472306

Institutional Source

Beutler Lab

Gene Symbol

Adcy10

Ensembl Gene

ENSMUSG00000026567

Gene Name

adenylate cyclase 10

Synonyms

sAC, Sacy, soluble adenylyl cyclase

MMRRC Submission

044139-MU

Accession Numbers

Essential gene?

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

Stock #

R5949 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

165485183-165576774 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 165539817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 552 (H552L)

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: H552L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027852
Gene: ENSMUSG00000026567
AA Change: H552L

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: H552L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107066
Gene: ENSMUSG00000026567
AA Change: H552L

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: H552L

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000107067
Gene: ENSMUSG00000026567
AA Change: H552L

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

Meta Mutation Damage Score

0.0980

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

92% (58/63)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,678,073 (GRCm38)	Y1452C	probably damaging	Het
Alms1-ps1	A	T	6: 85,721,961 (GRCm38)		noncoding transcript	Het
Arhgap21	A	G	2: 20,849,041 (GRCm38)	S1837P	probably damaging	Het
Atad5	G	T	11: 80,096,009 (GRCm38)	E641*	probably null	Het
Atp8b4	T	A	2: 126,405,322 (GRCm38)	T276S	probably benign	Het
Bptf	A	G	11: 107,111,089 (GRCm38)	I399T	probably damaging	Het
Carf	A	C	1: 60,139,313 (GRCm38)	K295T	probably damaging	Het
Cd209d	T	A	8: 3,877,949 (GRCm38)	N52Y	possibly damaging	Het
Cdh2	T	A	18: 16,601,630 (GRCm38)	I779F	probably damaging	Het
Cdon	G	A	9: 35,486,951 (GRCm38)	R988H	probably benign	Het
Cfhr4	A	T	1: 139,733,149 (GRCm38)	H600Q	probably damaging	Het
Cic	C	T	7: 25,272,305 (GRCm38)	T487M	probably damaging	Het
Dcps	A	G	9: 35,125,261 (GRCm38)		probably benign	Het
Ddx41	A	G	13: 55,532,061 (GRCm38)	C427R	probably damaging	Het
Diras2	T	C	13: 52,507,711 (GRCm38)	K187E	possibly damaging	Het
Emb	A	G	13: 117,267,392 (GRCm38)	I227V	probably benign	Het
Fam193a	T	A	5: 34,440,472 (GRCm38)	S538T	possibly damaging	Het
Fchsd1	C	T	18: 37,959,873 (GRCm38)		probably benign	Het
Galnt6	A	T	15: 100,696,550 (GRCm38)	N533K	probably damaging	Het
Grip1	A	G	10: 120,050,242 (GRCm38)	D499G	probably benign	Het
Ifih1	T	C	2: 62,610,560 (GRCm38)	N421D	probably benign	Het
Ifng	G	C	10: 118,442,624 (GRCm38)	M63I	probably benign	Het
Ighv1-43	A	G	12: 114,946,382 (GRCm38)	M1T	probably null	Het
Kif20a	G	A	18: 34,632,415 (GRCm38)	A822T	probably benign	Het
Krt83	A	T	15: 101,487,595 (GRCm38)	C299S	probably damaging	Het
Lrrn1	G	T	6: 107,567,504 (GRCm38)	V88L	probably benign	Het
Mapkapk2	A	G	1: 131,058,005 (GRCm38)	V173A	possibly damaging	Het
Mrap2	T	G	9: 87,182,605 (GRCm38)	V133G	probably benign	Het
Nlrp1a	T	A	11: 71,098,989 (GRCm38)	D984V	probably damaging	Het
Or4c125	A	G	2: 89,339,885 (GRCm38)	V139A	probably damaging	Het
Or5p59	T	C	7: 108,104,197 (GRCm38)	L296P	probably damaging	Het
Pcdh17	T	C	14: 84,447,556 (GRCm38)	Y488H	probably damaging	Het
Pih1d2	C	T	9: 50,624,984 (GRCm38)	P313L	probably damaging	Het
Ralgapb	T	C	2: 158,454,259 (GRCm38)	C839R	probably damaging	Het
Rdh5	C	A	10: 128,918,267 (GRCm38)	R29L	probably benign	Het
Rfx6	A	G	10: 51,678,333 (GRCm38)	D90G	probably benign	Het
Rnf213	A	G	11: 119,443,079 (GRCm38)	Y3038C	probably damaging	Het
Sec14l2	A	T	11: 4,108,972 (GRCm38)	V191D	probably damaging	Het
Slc3a2	T	C	19: 8,713,395 (GRCm38)	Y118C	probably damaging	Het
Sorbs2	T	C	8: 45,769,897 (GRCm38)		probably null	Het
Stab2	A	G	10: 86,969,849 (GRCm38)	L211P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,148,049 (GRCm38)	C289R	probably benign	Het
Tfpi	T	C	2: 84,444,748 (GRCm38)	E172G	probably benign	Het
Tmem106b	T	A	6: 13,083,419 (GRCm38)	M229K	probably damaging	Het
Tsfm	G	A	10: 127,028,375 (GRCm38)	T157M	probably damaging	Het
Tshr	G	A	12: 91,537,218 (GRCm38)	R310H	probably damaging	Het
Ttn	G	A	2: 76,777,900 (GRCm38)	A17893V	possibly damaging	Het
Vps39	A	G	2: 120,328,668 (GRCm38)	Y380H	probably benign	Het
Xylt2	G	A	11: 94,668,483 (GRCm38)	R383C	probably damaging	Het
Zfp719	C	T	7: 43,584,117 (GRCm38)		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
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'- AACAGCTTCCAGACAGCTCG -3'
(R):5'- ACATTAAGTCACAGAGCTTCAGG -3'

Sequencing Primer
(F):5'- GCTTCCAGACAGCTCGATTAATC -3'
(R):5'- TTTGCAGGAGTCTAATACGAGC -3'

Posted On

2017-03-31