Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01434:Adcy7'

84274

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adcy7

Ensembl Gene

ENSMUSG00000031659

Gene Name

adenylate cyclase 7

Synonyms

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.427) question?

Stock #

IGL01434

Quality Score

Status

Chromosome

Chromosomal Location

88999031-89056590 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89051472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 864 (N864S)

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: N864S

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

SMART Domains

Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: N864S

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: N864S

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

SMART Domains

Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: N864S

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: N864S

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

SMART Domains

Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: N864S

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: N864S

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

SMART Domains

Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: N864S

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

probably benign
Transcript: ENSMUST00000210688

Coding Region Coverage

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	A	G	7: 119,380,297 (GRCm39)		probably benign	Het
Anapc7	A	G	5: 122,576,279 (GRCm39)	D302G	probably benign	Het
Atm	A	T	9: 53,419,107 (GRCm39)	C782S	probably benign	Het
Bicdl1	G	A	5: 115,808,215 (GRCm39)	Q37*	probably null	Het
Cabin1	T	C	10: 75,561,420 (GRCm39)	D1027G	possibly damaging	Het
Cbl	T	C	9: 44,075,503 (GRCm39)	I364V	probably damaging	Het
Ccer1	T	C	10: 97,529,459 (GRCm39)	S41P	unknown	Het
Cenpf	G	A	1: 189,390,065 (GRCm39)	Q1256*	probably null	Het
Copa	T	A	1: 171,947,128 (GRCm39)	I1093N	probably benign	Het
Cped1	C	T	6: 22,017,004 (GRCm39)	L118F	probably damaging	Het
Cplane2	T	C	4: 140,945,964 (GRCm39)	V169A	probably benign	Het
Cstdc4	T	A	16: 36,006,777 (GRCm39)	V37E	probably benign	Het
Dner	T	C	1: 84,361,731 (GRCm39)	H626R	probably benign	Het
Ears2	G	A	7: 121,662,311 (GRCm39)		probably benign	Het
Eif3c	A	G	7: 126,155,582 (GRCm39)	I562T	probably damaging	Het
Eml6	T	C	11: 29,769,090 (GRCm39)	Y685C	probably damaging	Het
Garin1b	T	C	6: 29,320,700 (GRCm39)	V108A	probably damaging	Het
Gpt	A	G	15: 76,582,982 (GRCm39)	K321E	probably damaging	Het
Hspd1	C	T	1: 55,120,285 (GRCm39)	G306R	probably damaging	Het
Kmt2c	T	C	5: 25,614,306 (GRCm39)	Y138C	probably damaging	Het
Lhcgr	A	G	17: 89,049,865 (GRCm39)	Y554H	probably damaging	Het
Nell1	A	T	7: 50,350,956 (GRCm39)	K534N	probably benign	Het
Nob1	A	G	8: 108,151,360 (GRCm39)		probably benign	Het
Or13a17	G	A	7: 140,271,531 (GRCm39)	A238T	probably damaging	Het
Phf12	C	T	11: 77,914,385 (GRCm39)	P60L	probably damaging	Het
Prkdc	A	G	16: 15,531,451 (GRCm39)	E1358G	probably benign	Het
Rimbp3	A	G	16: 17,029,566 (GRCm39)	T997A	probably benign	Het
Slc9a9	T	A	9: 94,901,247 (GRCm39)	N393K	possibly damaging	Het
Sohlh2	T	C	3: 55,102,582 (GRCm39)	S206P	probably damaging	Het
Stard10	G	A	7: 100,971,187 (GRCm39)	V125M	probably benign	Het
Tff2	G	T	17: 31,362,240 (GRCm39)		probably null	Het
Tha1	T	C	11: 117,759,425 (GRCm39)	T355A	probably benign	Het
Tmem120a	G	T	5: 135,765,864 (GRCm39)	F127L	possibly damaging	Het
Tmem41b	A	G	7: 109,577,909 (GRCm39)		probably benign	Het
Tonsl	T	C	15: 76,515,302 (GRCm39)	D1028G	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
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
R0963:Adcy7	UTSW	8	89,038,893 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2013-11-11