Mutagenetix > Incidental Mutation

Incidental Mutation 'R0963:Adcy7'

81380

Institutional Source

Beutler Lab

Gene Symbol

Adcy7

Ensembl Gene

ENSMUSG00000031659

Gene Name

adenylate cyclase 7

Synonyms

MMRRC Submission

039092-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.381) question?

Stock #

R0963 (G1)

Quality Score

158

Status

Not validated

Chromosome

Chromosomal Location

88999031-89056590 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 89038893 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 303 (V303A)

Ref Sequence

ENSEMBL: ENSMUSP00000132528 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098521] [ENSMUST00000168545] [ENSMUST00000169037] [ENSMUST00000171456]

AlphaFold

P51829

Predicted Effect

probably damaging
Transcript: ENSMUST00000098521
AA Change: V303A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: V303A

Domain	Start	End	E-Value	Type
transmembrane domain	34	53	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	92	113	N/A	INTRINSIC
transmembrane domain	123	140	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	179	198	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	8.8e-27	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000168545
AA Change: V303A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: V303A

Domain	Start	End	E-Value	Type
transmembrane domain	34	53	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	92	113	N/A	INTRINSIC
transmembrane domain	123	140	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	179	198	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	8.8e-27	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000169037
AA Change: V303A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: V303A

Domain	Start	End	E-Value	Type
transmembrane domain	34	53	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
transmembrane domain	92	113	N/A	INTRINSIC
transmembrane domain	123	140	N/A	INTRINSIC
transmembrane domain	147	169	N/A	INTRINSIC
transmembrane domain	179	198	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	8.8e-27	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000171456
AA Change: V303A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: V303A

Domain	Start	End	E-Value	Type
low complexity region	91	104	N/A	INTRINSIC
low complexity region	126	142	N/A	INTRINSIC
CYCc	226	434	2.99e-64	SMART
low complexity region	457	473	N/A	INTRINSIC
Pfam:DUF1053	487	594	1.2e-35	PFAM
transmembrane domain	620	642	N/A	INTRINSIC
transmembrane domain	670	692	N/A	INTRINSIC
transmembrane domain	719	741	N/A	INTRINSIC
transmembrane domain	748	770	N/A	INTRINSIC
transmembrane domain	816	833	N/A	INTRINSIC
low complexity region	847	858	N/A	INTRINSIC
CYCc	859	1071	1.54e-43	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000210688
AA Change: V3A

Coding Region Coverage

1x: 99.4%
3x: 98.8%
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.] This gene encodes a membrane-bound adenylate cyclase that catalyses the formation of cyclic AMP from ATP and is inhibitable by calcium. The product of this gene is a member of the adenylyl cyclase class-4/guanylyl cyclase enzyme family that is characterized by the presence of twelve membrane-spanning domains in its sequences. Several transcript variants have been observed for this gene, but the full-length natures of only two have been determined so far. [provided by RefSeq, Oct 2013]
PHENOTYPE: Mice homozygous for disruptions in this gene display some degree of pre- or postnatal lethality. Surviving adults for one allele appear to be normal. Heterozygous females for one allele display decreased depression related behaviors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,722,451 (GRCm39)	D369G	probably damaging	Het
Afap1l1	A	T	18: 61,870,001 (GRCm39)	Y610N	probably damaging	Het
Agr3	T	A	12: 35,984,433 (GRCm39)	H53Q	probably benign	Het
Akr1d1	A	G	6: 37,507,209 (GRCm39)	I10M	probably damaging	Het
Atp4b	G	T	8: 13,440,014 (GRCm39)	H111N	probably benign	Het
Bbs7	G	T	3: 36,667,412 (GRCm39)	A8E	probably benign	Het
Bsn	C	T	9: 107,989,006 (GRCm39)	V2249M	possibly damaging	Het
Cpt1a	T	C	19: 3,431,634 (GRCm39)	S685P	probably damaging	Het
Dhx57	A	T	17: 80,582,956 (GRCm39)	H163Q	probably benign	Het
Duox2	A	C	2: 122,117,653 (GRCm39)	C894G	probably benign	Het
Ecm1	T	C	3: 95,643,900 (GRCm39)	T209A	possibly damaging	Het
Glo1	T	C	17: 30,819,085 (GRCm39)	N79S	probably benign	Het
Htra1	T	A	7: 130,584,009 (GRCm39)	M388K	possibly damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Jag2	C	T	12: 112,878,934 (GRCm39)	E496K	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Khdc1c	A	G	1: 21,439,833 (GRCm39)	N128S	probably benign	Het
Lamc1	T	C	1: 153,119,132 (GRCm39)	N829S	probably benign	Het
Leprotl1	T	C	8: 34,606,189 (GRCm39)	Y33C	probably damaging	Het
Lypd11	A	T	7: 24,423,047 (GRCm39)	D90E	probably benign	Het
Map3k3	T	A	11: 106,014,618 (GRCm39)	S130T	probably benign	Het
Mip	C	T	10: 128,061,854 (GRCm39)	A35V	probably benign	Het
Ms4a19	T	C	19: 11,118,921 (GRCm39)	T63A	possibly damaging	Het
Myh15	A	G	16: 48,952,512 (GRCm39)	R861G	probably damaging	Het
Myom1	A	C	17: 71,384,762 (GRCm39)	I718L	possibly damaging	Het
Naip6	C	T	13: 100,452,983 (GRCm39)	R26H	probably benign	Het
Or52e4	G	A	7: 104,706,179 (GRCm39)	C242Y	probably damaging	Het
Pde6b	A	G	5: 108,578,534 (GRCm39)	E824G	probably benign	Het
Pramel24	T	A	4: 143,453,678 (GRCm39)	I262N	possibly damaging	Het
Rbm19	T	G	5: 120,268,799 (GRCm39)	S476A	possibly damaging	Het
Rpl39l	T	A	16: 9,992,162 (GRCm39)		probably null	Het
Sec24b	A	G	3: 129,834,554 (GRCm39)	S79P	probably benign	Het
Slc15a2	G	A	16: 36,594,935 (GRCm39)	A146V	probably damaging	Het
Slmap	T	C	14: 26,189,675 (GRCm39)	Y161C	probably damaging	Het
Smc4	T	A	3: 68,933,259 (GRCm39)	C652S	probably damaging	Het
Stab1	A	G	14: 30,869,231 (GRCm39)	I1499T	probably damaging	Het
Tnnt1	A	G	7: 4,510,594 (GRCm39)	L209P	probably damaging	Het
Trim52	T	G	14: 106,344,973 (GRCm39)	S210R	probably benign	Het
Tsc22d1	T	A	14: 76,656,039 (GRCm39)	N82K	possibly damaging	Het
Wdr75	T	C	1: 45,856,470 (GRCm39)	Y498H	probably benign	Het
Zfp955a	C	T	17: 33,462,726 (GRCm39)	S56N	probably benign	Het

Other mutations in Adcy7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01327:Adcy7	APN	8	89,045,418 (GRCm39)	splice site	probably benign
IGL01434:Adcy7	APN	8	89,051,472 (GRCm39)	missense	probably damaging	1.00
IGL01784:Adcy7	APN	8	89,040,751 (GRCm39)	missense	probably damaging	1.00
IGL02506:Adcy7	APN	8	89,044,571 (GRCm39)	missense	probably damaging	1.00
IGL03184:Adcy7	APN	8	89,035,271 (GRCm39)	missense	probably benign	0.00
IGL03406:Adcy7	APN	8	89,044,947 (GRCm39)	nonsense	probably null
Churchill	UTSW	8	89,042,387 (GRCm39)	missense	probably damaging	1.00
democracy	UTSW	8	89,042,384 (GRCm39)	missense	probably damaging	1.00
Dictatorship	UTSW	8	89,037,736 (GRCm39)	missense	possibly damaging	0.80
periphery	UTSW	8	89,044,565 (GRCm39)	missense	probably benign	0.01
republic	UTSW	8	89,040,765 (GRCm39)	missense	probably damaging	1.00
tyranny	UTSW	8	89,038,856 (GRCm39)	missense	possibly damaging	0.76
PIT4283001:Adcy7	UTSW	8	89,042,120 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Adcy7	UTSW	8	89,050,264 (GRCm39)	missense	probably benign	0.07
R0265:Adcy7	UTSW	8	89,051,391 (GRCm39)	missense	probably damaging	0.96
R0990:Adcy7	UTSW	8	89,052,080 (GRCm39)	missense	possibly damaging	0.57
R1055:Adcy7	UTSW	8	89,044,685 (GRCm39)	splice site	probably benign
R1494:Adcy7	UTSW	8	89,046,835 (GRCm39)	missense	probably benign	0.00
R1764:Adcy7	UTSW	8	89,035,468 (GRCm39)	missense	probably benign	0.00
R2062:Adcy7	UTSW	8	89,038,902 (GRCm39)	missense	probably damaging	1.00
R2090:Adcy7	UTSW	8	89,042,485 (GRCm39)	missense	probably damaging	0.98
R2201:Adcy7	UTSW	8	89,044,606 (GRCm39)	missense	probably damaging	1.00
R2413:Adcy7	UTSW	8	89,036,446 (GRCm39)	missense	probably benign	0.20
R2849:Adcy7	UTSW	8	89,054,021 (GRCm39)	missense	probably benign	0.38
R4020:Adcy7	UTSW	8	89,035,362 (GRCm39)	missense	probably benign	0.00
R4086:Adcy7	UTSW	8	89,042,414 (GRCm39)	missense	probably benign	0.01
R4679:Adcy7	UTSW	8	89,044,565 (GRCm39)	missense	probably benign	0.01
R5069:Adcy7	UTSW	8	89,054,325 (GRCm39)	missense	probably damaging	1.00
R5253:Adcy7	UTSW	8	89,040,742 (GRCm39)	missense	probably damaging	1.00
R5286:Adcy7	UTSW	8	89,051,487 (GRCm39)	missense	probably damaging	1.00
R5427:Adcy7	UTSW	8	89,052,829 (GRCm39)	critical splice donor site	probably null
R5457:Adcy7	UTSW	8	89,037,649 (GRCm39)	missense	probably damaging	1.00
R5689:Adcy7	UTSW	8	89,051,412 (GRCm39)	missense	probably benign	0.00
R5907:Adcy7	UTSW	8	89,038,856 (GRCm39)	missense	possibly damaging	0.76
R5909:Adcy7	UTSW	8	89,052,124 (GRCm39)	missense	probably damaging	1.00
R5997:Adcy7	UTSW	8	89,053,020 (GRCm39)	missense	probably benign	0.41
R6038:Adcy7	UTSW	8	89,049,608 (GRCm39)	missense	probably benign	0.01
R6038:Adcy7	UTSW	8	89,049,608 (GRCm39)	missense	probably benign	0.01
R6133:Adcy7	UTSW	8	89,052,067 (GRCm39)	missense	possibly damaging	0.84
R6190:Adcy7	UTSW	8	89,052,358 (GRCm39)	splice site	probably null
R6213:Adcy7	UTSW	8	89,040,765 (GRCm39)	missense	probably damaging	1.00
R6287:Adcy7	UTSW	8	89,037,736 (GRCm39)	missense	possibly damaging	0.80
R6502:Adcy7	UTSW	8	89,052,107 (GRCm39)	missense	probably damaging	1.00
R6989:Adcy7	UTSW	8	89,035,414 (GRCm39)	missense	probably benign
R7042:Adcy7	UTSW	8	89,042,378 (GRCm39)	missense	probably damaging	0.99
R7829:Adcy7	UTSW	8	89,042,387 (GRCm39)	missense	probably damaging	1.00
R8067:Adcy7	UTSW	8	89,037,697 (GRCm39)	missense	probably damaging	1.00
R8113:Adcy7	UTSW	8	89,048,431 (GRCm39)	missense	probably damaging	1.00
R8118:Adcy7	UTSW	8	89,042,384 (GRCm39)	missense	probably damaging	1.00
R8190:Adcy7	UTSW	8	89,037,666 (GRCm39)	missense	possibly damaging	0.49
R8402:Adcy7	UTSW	8	89,035,363 (GRCm39)	missense	probably benign	0.30
R8421:Adcy7	UTSW	8	89,048,812 (GRCm39)	missense	probably benign	0.06
R8549:Adcy7	UTSW	8	89,052,818 (GRCm39)	missense	probably benign
R8827:Adcy7	UTSW	8	89,036,327 (GRCm39)	missense	possibly damaging	0.73
R9076:Adcy7	UTSW	8	89,054,336 (GRCm39)	missense	probably damaging	1.00
R9228:Adcy7	UTSW	8	89,044,675 (GRCm39)	critical splice donor site	probably null
R9276:Adcy7	UTSW	8	89,052,014 (GRCm39)	missense	probably damaging	1.00
R9465:Adcy7	UTSW	8	89,046,778 (GRCm39)	missense	probably benign	0.42
R9515:Adcy7	UTSW	8	89,037,646 (GRCm39)	missense	possibly damaging	0.90
R9536:Adcy7	UTSW	8	89,053,026 (GRCm39)	missense	possibly damaging	0.78
R9564:Adcy7	UTSW	8	89,053,053 (GRCm39)	frame shift	probably null
R9565:Adcy7	UTSW	8	89,053,053 (GRCm39)	frame shift	probably null
R9659:Adcy7	UTSW	8	89,045,733 (GRCm39)	missense	probably benign	0.00
R9735:Adcy7	UTSW	8	89,037,262 (GRCm39)	missense	probably benign	0.16
R9788:Adcy7	UTSW	8	89,045,733 (GRCm39)	missense	probably benign	0.00
X0067:Adcy7	UTSW	8	89,051,228 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GATACCTCTTCTGGCCTTTGGAGC -3'
(R):5'- TGCAGGTTGCAAATCTAAGCCCC -3'

Sequencing Primer
(F):5'- GCCTTTGGAGCTGAGCAG -3'
(R):5'- TCTCCTGCTAAGGTGGGAAC -3'

Posted On

2013-11-07