Mutagenetix > Incidental Mutation

Incidental Mutation 'R5907:Adcy7'

460717

Institutional Source

Beutler Lab

Gene Symbol

Adcy7

Ensembl Gene

ENSMUSG00000031659

Gene Name

adenylate cyclase 7

Synonyms

MMRRC Submission

044104-MU

Accession Numbers

Essential gene?

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

Stock #

R5907 (G1)

Quality Score

153

Status

Validated

Chromosome

Chromosomal Location

88999031-89056590 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89038856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 291 (T291A)

Ref Sequence

ENSEMBL: ENSMUSP00000132528 (fasta)

Gene Model

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

AlphaFold

P51829

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098521
AA Change: T291A

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096122
Gene: ENSMUSG00000031659
AA Change: T291A

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

possibly damaging
Transcript: ENSMUST00000168545
AA Change: T291A

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000129252
Gene: ENSMUSG00000031659
AA Change: T291A

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

possibly damaging
Transcript: ENSMUST00000169037
AA Change: T291A

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000130594
Gene: ENSMUSG00000031659
AA Change: T291A

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

possibly damaging
Transcript: ENSMUST00000171456
AA Change: T291A

PolyPhen 2 Score 0.756 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000132528
Gene: ENSMUSG00000031659
AA Change: T291A

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

Meta Mutation Damage Score

0.9240

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 93.7%

Validation Efficiency

93% (92/99)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931429L15Rik	A	T	9: 46,218,120 (GRCm39)	I206N	probably damaging	Het
Aadac	T	A	3: 59,947,248 (GRCm39)	D315E	probably damaging	Het
Abcc8	A	G	7: 45,773,330 (GRCm39)	F800L	probably benign	Het
Adamts16	C	A	13: 70,877,029 (GRCm39)	C1204F	probably damaging	Het
AI182371	G	T	2: 34,976,134 (GRCm39)	Q255K	possibly damaging	Het
Aig1	A	T	10: 13,677,528 (GRCm39)		probably benign	Het
Ak5	T	C	3: 152,321,589 (GRCm39)	D266G	probably damaging	Het
Ank1	A	T	8: 23,630,220 (GRCm39)	E93D	probably damaging	Het
Bop1	T	C	15: 76,340,117 (GRCm39)	D153G	probably damaging	Het
Bub1	G	T	2: 127,661,142 (GRCm39)	N316K	probably benign	Het
Capn1	T	C	19: 6,047,827 (GRCm39)	N412S	probably benign	Het
Cdca4	A	G	12: 112,785,339 (GRCm39)	S130P	probably benign	Het
Cdh23	A	T	10: 60,264,158 (GRCm39)	D663E	probably damaging	Het
Clca3a1	T	C	3: 144,455,403 (GRCm39)		probably benign	Het
Csmd2	C	T	4: 128,091,178 (GRCm39)	P239L	probably damaging	Het
Dlg2	A	T	7: 91,646,579 (GRCm39)		probably benign	Het
Dnpep	C	T	1: 75,288,635 (GRCm39)		probably null	Het
Dop1b	A	T	16: 93,598,469 (GRCm39)	H1878L	probably damaging	Het
Dscam	C	T	16: 96,622,120 (GRCm39)	D444N	probably damaging	Het
Emc9	C	T	14: 55,819,569 (GRCm39)		probably null	Het
Ero1b	T	A	13: 12,615,207 (GRCm39)	I346N	probably damaging	Het
Etv3	A	G	3: 87,442,850 (GRCm39)	T145A	probably benign	Het
Fam170a	T	A	18: 50,415,321 (GRCm39)		probably null	Het
Fap	A	T	2: 62,374,700 (GRCm39)	I261N	probably damaging	Het
Fbn2	T	C	18: 58,178,409 (GRCm39)	N1943S	probably damaging	Het
Glb1l3	A	T	9: 26,737,679 (GRCm39)	V466E	probably damaging	Het
Gm10521	A	T	1: 171,724,070 (GRCm39)	H127L	unknown	Het
Gm8186	G	T	17: 26,318,130 (GRCm39)	N22K	probably damaging	Het
Gpr132	A	C	12: 112,815,717 (GRCm39)	L370V	probably benign	Het
Hectd1	A	T	12: 51,845,537 (GRCm39)	H449Q	probably damaging	Het
Hook3	A	G	8: 26,534,306 (GRCm39)		probably benign	Het
Ift140	A	G	17: 25,311,345 (GRCm39)	D1180G	probably benign	Het
Isoc2b	A	T	7: 4,852,577 (GRCm39)		probably null	Het
Itga4	C	T	2: 79,153,000 (GRCm39)	H896Y	probably benign	Het
Itga7	T	C	10: 128,778,850 (GRCm39)	Y326H	probably damaging	Het
Itpr3	A	T	17: 27,336,867 (GRCm39)	E2397V	probably damaging	Het
Jtb	T	G	3: 90,142,884 (GRCm39)		probably null	Het
Klk15	A	G	7: 43,588,183 (GRCm39)	T164A	probably benign	Het
Kmt2e	C	A	5: 23,669,704 (GRCm39)	H64N	probably damaging	Het
Lamtor3	T	A	3: 137,633,054 (GRCm39)		probably benign	Het
Laptm4b	A	G	15: 34,258,830 (GRCm39)	I35V	possibly damaging	Het
Lrrc1	A	C	9: 77,341,379 (GRCm39)	L393R	probably damaging	Het
Ltn1	A	G	16: 87,178,391 (GRCm39)	S1613P	possibly damaging	Het
Mtmr4	T	A	11: 87,502,876 (GRCm39)	W920R	probably damaging	Het
Nbeal1	T	C	1: 60,267,950 (GRCm39)		probably benign	Het
Nup133	A	G	8: 124,643,038 (GRCm39)	Y761H	possibly damaging	Het
Nwd2	T	A	5: 63,963,326 (GRCm39)	V970D	probably damaging	Het
Or4c126	A	G	2: 89,824,301 (GRCm39)	H188R	probably benign	Het
Or6n1	T	C	1: 173,916,785 (GRCm39)	Y60H	probably benign	Het
Or8k24	A	T	2: 86,216,218 (GRCm39)	S181R	probably damaging	Het
Osbp	C	T	19: 11,951,240 (GRCm39)	L262F	probably damaging	Het
Phf8-ps	G	T	17: 33,285,124 (GRCm39)	D559E	probably benign	Het
Phldb2	G	T	16: 45,645,551 (GRCm39)	D343E	probably damaging	Het
Phrf1	T	A	7: 140,840,453 (GRCm39)	M1216K	possibly damaging	Het
Phyh	A	T	2: 4,935,462 (GRCm39)		probably null	Het
Plekhf1	A	T	7: 37,921,594 (GRCm39)		probably null	Het
Rars1	T	C	11: 35,719,475 (GRCm39)	N116D	probably damaging	Het
Rnf44	T	A	13: 54,830,621 (GRCm39)	Q181L	possibly damaging	Het
Rpe65	T	C	3: 159,321,319 (GRCm39)		probably null	Het
Scaf1	A	G	7: 44,663,016 (GRCm39)		probably benign	Het
Serpinb11	A	T	1: 107,299,919 (GRCm39)	R88S	probably benign	Het
Slc7a7	T	C	14: 54,616,560 (GRCm39)	N174S	probably damaging	Het
Slc9a5	T	C	8: 106,083,807 (GRCm39)		probably null	Het
Slfn1	C	A	11: 83,012,002 (GRCm39)	N39K	possibly damaging	Het
Snx20	G	A	8: 89,353,923 (GRCm39)	A269V	possibly damaging	Het
Snx6	A	G	12: 54,801,104 (GRCm39)	Y298H	probably damaging	Het
Stk32c	C	T	7: 138,700,590 (GRCm39)	R213Q	probably benign	Het
Tgfbr1	A	T	4: 47,396,555 (GRCm39)	I190F	probably damaging	Het
Ube2d2b	T	A	5: 107,978,498 (GRCm39)	F50I	probably damaging	Het
Ubl5	G	A	9: 20,557,830 (GRCm39)		probably benign	Het
Ubqln5	T	G	7: 103,777,781 (GRCm39)	T348P	possibly damaging	Het
Usp46	T	C	5: 74,197,746 (GRCm39)	D22G	probably benign	Het
Vars1	A	G	17: 35,231,352 (GRCm39)	N655S	probably damaging	Het
Vmn2r103	A	C	17: 20,032,715 (GRCm39)	I830L	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,830 (GRCm39)	N431K	probably benign	Het
Vmn2r4	G	T	3: 64,298,487 (GRCm39)	P547Q	probably damaging	Het
Yy1	T	A	12: 108,772,354 (GRCm39)		probably benign	Het
Zbtb2	A	T	10: 4,318,592 (GRCm39)	L478Q	possibly damaging	Het
Zfp12	T	C	5: 143,225,743 (GRCm39)	F17S	probably damaging	Het
Zfp219	T	A	14: 52,244,606 (GRCm39)		probably null	Het
Zfp629	G	A	7: 127,209,542 (GRCm39)	H756Y	probably damaging	Het
Zfp748	T	C	13: 67,689,292 (GRCm39)	K656R	possibly damaging	Het
Zfp958	T	A	8: 4,679,072 (GRCm39)	Y366N	probably benign	Het
Zp3	C	T	5: 136,017,377 (GRCm39)	T396I	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
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
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'- AGGCTGTAGATGGTCTGCTC -3'
(R):5'- TCGGGAAAACCACCTACTATCGAG -3'

Sequencing Primer
(F):5'- GCTCTGTGCAGCTGTAGC -3'
(R):5'- GACACTAAAATTCAGCCTCAGTTTC -3'

Posted On

2017-02-28