Mutagenetix > Incidental Mutation

Incidental Mutation 'R5753:Adcy1'

444903

Institutional Source

Beutler Lab

Gene Symbol

Adcy1

Ensembl Gene

ENSMUSG00000020431

Gene Name

adenylate cyclase 1

Synonyms

AC1, I-AC, D11Bwg1392e

MMRRC Submission

043358-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7013489-7128506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 7080300 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 348 (I348F)

Ref Sequence

ENSEMBL: ENSMUSP00000020706 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020706]

AlphaFold

O88444

Predicted Effect

probably damaging
Transcript: ENSMUST00000020706
AA Change: I348F

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

SMART Domains

Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: I348F

Domain	Start	End	E-Value	Type
low complexity region	2	36	N/A	INTRINSIC
low complexity region	58	90	N/A	INTRINSIC
low complexity region	112	135	N/A	INTRINSIC
CYCc	257	455	2.05e-80	SMART
transmembrane domain	608	630	N/A	INTRINSIC
transmembrane domain	634	656	N/A	INTRINSIC
transmembrane domain	676	698	N/A	INTRINSIC
CYCc	827	1038	1.71e-50	SMART
low complexity region	1090	1104	N/A	INTRINSIC

Meta Mutation Damage Score

0.8737

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the of adenylate cyclase gene family that is primarily expressed in the brain. This protein is regulated by calcium/calmodulin concentration and may be involved in brain development. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Mice homozygous for an insertional or null mutation fail to develop normal patterned distribution of neurons in the brain and display behavioral and learning abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	C	T	5: 88,120,374 (GRCm39)	T377I	probably damaging	Het
Abcb1a	A	G	5: 8,773,160 (GRCm39)	D796G	probably damaging	Het
Actn3	T	C	19: 4,914,595 (GRCm39)		probably null	Het
Ada	A	T	2: 163,577,318 (GRCm39)	S57T	probably benign	Het
Adamts6	A	G	13: 104,483,858 (GRCm39)	Y359C	probably damaging	Het
Ankrd11	T	C	8: 123,622,043 (GRCm39)	E603G	possibly damaging	Het
Bcas3	A	G	11: 85,712,910 (GRCm39)		probably benign	Het
Cldn1	C	A	16: 26,181,871 (GRCm39)	V113L	probably benign	Het
Dock9	T	C	14: 121,872,037 (GRCm39)	T540A	probably benign	Het
Erp27	A	G	6: 136,896,875 (GRCm39)	F109S	probably damaging	Het
F13a1	G	A	13: 37,082,082 (GRCm39)	Q541*	probably null	Het
Fam124a	T	C	14: 62,843,988 (GRCm39)	S499P	probably benign	Het
Fgd3	T	A	13: 49,428,416 (GRCm39)	E486V	possibly damaging	Het
Flnc	T	C	6: 29,433,488 (GRCm39)	S11P	probably benign	Het
Gm12508	C	A	4: 55,254,787 (GRCm39)		noncoding transcript	Het
Grk2	C	T	19: 4,340,496 (GRCm39)	R295H	probably damaging	Het
Gtf2ird1	A	G	5: 134,439,837 (GRCm39)	M131T	probably damaging	Het
H4c4	G	A	13: 23,765,587 (GRCm39)	M1I	probably null	Het
Itpripl2	A	G	7: 118,090,232 (GRCm39)	V109A	probably damaging	Het
Jakmip2	T	C	18: 43,692,181 (GRCm39)	E585G	probably damaging	Het
Kbtbd3	A	T	9: 4,331,404 (GRCm39)	I593F	possibly damaging	Het
Lgr4	C	T	2: 109,832,857 (GRCm39)	Q316*	probably null	Het
Mcf2l	T	C	8: 13,049,993 (GRCm39)	F305S	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or4c3	T	C	2: 89,851,847 (GRCm39)	T188A	possibly damaging	Het
Or4k51	T	A	2: 111,585,146 (GRCm39)	I184K	possibly damaging	Het
Or4q3	T	A	14: 50,583,045 (GRCm39)	T285S	probably damaging	Het
Or51b17	A	G	7: 103,542,408 (GRCm39)	L178P	probably damaging	Het
Or5d18	G	A	2: 87,864,920 (GRCm39)	L188F	probably damaging	Het
Or5w18	A	T	2: 87,633,596 (GRCm39)	M288L	probably benign	Het
Or7a40	A	T	16: 16,491,484 (GRCm39)	Y120*	probably null	Het
Pcdh9	T	A	14: 94,125,597 (GRCm39)	D191V	probably damaging	Het
Pde4d	T	A	13: 109,909,256 (GRCm39)		probably benign	Het
Phkb	C	T	8: 86,604,859 (GRCm39)	A88V	probably damaging	Het
Plec	A	G	15: 76,057,620 (GRCm39)	S4128P	probably damaging	Het
Plekha5	A	T	6: 140,482,730 (GRCm39)		probably null	Het
Rgs13	A	C	1: 144,016,478 (GRCm39)	N88K	probably benign	Het
Rho	T	A	6: 115,912,448 (GRCm39)	I104N	probably damaging	Het
Rnps1	T	C	17: 24,637,138 (GRCm39)		probably benign	Het
Saxo5	A	T	8: 3,534,112 (GRCm39)	I350L	probably benign	Het
Slc10a7	G	T	8: 79,251,928 (GRCm39)		probably null	Het
Slc39a7	C	T	17: 34,249,150 (GRCm39)	R246K	probably damaging	Het
Sort1	G	C	3: 108,253,090 (GRCm39)	G510A	probably damaging	Het
Spag6l	A	G	16: 16,584,831 (GRCm39)		probably null	Het
Sync	T	A	4: 129,187,179 (GRCm39)	Y70*	probably null	Het
Timm8a2	T	C	14: 122,272,289 (GRCm39)	V64A	probably benign	Het
Tnfrsf11b	C	A	15: 54,117,455 (GRCm39)	V267L	possibly damaging	Het
Trim30b	A	G	7: 104,006,544 (GRCm39)	V104A	possibly damaging	Het
Tusc3	T	C	8: 39,564,100 (GRCm39)	S244P	probably damaging	Het
Usp16	T	A	16: 87,279,787 (GRCm39)	Y746N	probably damaging	Het
Vax1	G	T	19: 59,154,814 (GRCm39)	H274Q	probably benign	Het
Vmn2r108	A	G	17: 20,683,179 (GRCm39)	V675A	probably damaging	Het
Vmn2r12	A	T	5: 109,239,670 (GRCm39)	W298R	probably damaging	Het
Zfp948	A	G	17: 21,807,156 (GRCm39)	N116S	probably damaging	Het
Zkscan2	A	G	7: 123,079,923 (GRCm39)	V678A	probably benign	Het

Other mutations in Adcy1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01149:Adcy1	APN	11	7,087,385 (GRCm39)	missense	probably damaging	0.99
IGL01325:Adcy1	APN	11	7,014,102 (GRCm39)	missense	possibly damaging	0.58
IGL01531:Adcy1	APN	11	7,119,414 (GRCm39)	missense	possibly damaging	0.95
IGL01585:Adcy1	APN	11	7,117,143 (GRCm39)	missense	probably damaging	1.00
IGL01932:Adcy1	APN	11	7,050,565 (GRCm39)	splice site	probably benign
IGL01945:Adcy1	APN	11	7,111,891 (GRCm39)	missense	probably damaging	1.00
IGL02532:Adcy1	APN	11	7,094,737 (GRCm39)	missense	probably benign	0.26
IGL02649:Adcy1	APN	11	7,117,156 (GRCm39)	missense	probably damaging	1.00
IGL02658:Adcy1	APN	11	7,088,279 (GRCm39)	splice site	probably benign
IGL02813:Adcy1	APN	11	7,096,591 (GRCm39)	missense	possibly damaging	0.83
IGL02931:Adcy1	APN	11	7,029,012 (GRCm39)	missense	probably benign	0.19
IGL03116:Adcy1	APN	11	7,100,071 (GRCm39)	missense	probably benign
IGL03119:Adcy1	APN	11	7,059,051 (GRCm39)	missense	probably damaging	1.00
IGL03214:Adcy1	APN	11	7,117,054 (GRCm39)	splice site	probably benign
PIT4431001:Adcy1	UTSW	11	7,014,089 (GRCm39)	missense	possibly damaging	0.93
PIT4520001:Adcy1	UTSW	11	7,117,133 (GRCm39)	missense	probably damaging	1.00
R0032:Adcy1	UTSW	11	7,094,729 (GRCm39)	missense	possibly damaging	0.93
R0032:Adcy1	UTSW	11	7,094,729 (GRCm39)	missense	possibly damaging	0.93
R0080:Adcy1	UTSW	11	7,099,497 (GRCm39)	splice site	probably benign
R0082:Adcy1	UTSW	11	7,099,497 (GRCm39)	splice site	probably benign
R0238:Adcy1	UTSW	11	7,089,162 (GRCm39)	missense	possibly damaging	0.80
R0238:Adcy1	UTSW	11	7,089,162 (GRCm39)	missense	possibly damaging	0.80
R0312:Adcy1	UTSW	11	7,099,538 (GRCm39)	missense	probably benign	0.08
R0569:Adcy1	UTSW	11	7,096,514 (GRCm39)	missense	probably benign	0.34
R1055:Adcy1	UTSW	11	7,059,075 (GRCm39)	missense	probably damaging	1.00
R1144:Adcy1	UTSW	11	7,087,400 (GRCm39)	missense	probably damaging	1.00
R1179:Adcy1	UTSW	11	7,117,054 (GRCm39)	splice site	probably null
R1245:Adcy1	UTSW	11	7,119,410 (GRCm39)	splice site	probably benign
R1467:Adcy1	UTSW	11	7,088,396 (GRCm39)	missense	probably damaging	0.97
R1467:Adcy1	UTSW	11	7,088,396 (GRCm39)	missense	probably damaging	0.97
R1823:Adcy1	UTSW	11	7,111,312 (GRCm39)	missense	probably benign	0.23
R1953:Adcy1	UTSW	11	7,028,991 (GRCm39)	missense	probably benign	0.01
R1957:Adcy1	UTSW	11	7,111,945 (GRCm39)	missense	probably benign	0.00
R2029:Adcy1	UTSW	11	7,089,142 (GRCm39)	missense	probably benign	0.10
R2051:Adcy1	UTSW	11	7,111,885 (GRCm39)	nonsense	probably null
R2483:Adcy1	UTSW	11	7,080,348 (GRCm39)	missense	probably benign	0.01
R3108:Adcy1	UTSW	11	7,119,453 (GRCm39)	missense	probably damaging	1.00
R3623:Adcy1	UTSW	11	7,080,348 (GRCm39)	missense	probably benign	0.01
R3624:Adcy1	UTSW	11	7,080,348 (GRCm39)	missense	probably benign	0.01
R4082:Adcy1	UTSW	11	7,014,117 (GRCm39)	missense	probably damaging	1.00
R4159:Adcy1	UTSW	11	7,013,889 (GRCm39)	missense	probably damaging	1.00
R4470:Adcy1	UTSW	11	7,094,804 (GRCm39)	missense	probably benign	0.17
R4472:Adcy1	UTSW	11	7,080,369 (GRCm39)	missense	probably damaging	1.00
R4951:Adcy1	UTSW	11	7,088,336 (GRCm39)	missense	possibly damaging	0.83
R4997:Adcy1	UTSW	11	7,111,298 (GRCm39)	missense	probably benign	0.25
R5237:Adcy1	UTSW	11	7,099,553 (GRCm39)	missense	probably benign	0.00
R5288:Adcy1	UTSW	11	7,111,351 (GRCm39)	missense	probably benign	0.01
R5304:Adcy1	UTSW	11	7,014,198 (GRCm39)	missense	probably benign	0.00
R5341:Adcy1	UTSW	11	7,080,375 (GRCm39)	missense	probably damaging	0.99
R5379:Adcy1	UTSW	11	7,096,532 (GRCm39)	missense	probably damaging	1.00
R5592:Adcy1	UTSW	11	7,089,088 (GRCm39)	nonsense	probably null
R5677:Adcy1	UTSW	11	7,111,914 (GRCm39)	missense	probably damaging	1.00
R5680:Adcy1	UTSW	11	7,059,020 (GRCm39)	missense	probably damaging	1.00
R5888:Adcy1	UTSW	11	7,089,095 (GRCm39)	missense	possibly damaging	0.66
R5943:Adcy1	UTSW	11	7,111,337 (GRCm39)	missense	probably damaging	1.00
R6435:Adcy1	UTSW	11	7,111,367 (GRCm39)	missense	possibly damaging	0.60
R6931:Adcy1	UTSW	11	7,100,884 (GRCm39)	missense	possibly damaging	0.81
R6998:Adcy1	UTSW	11	7,029,026 (GRCm39)	missense	probably damaging	1.00
R7368:Adcy1	UTSW	11	7,094,765 (GRCm39)	missense	probably damaging	1.00
R7378:Adcy1	UTSW	11	7,119,543 (GRCm39)	missense	possibly damaging	0.56
R7393:Adcy1	UTSW	11	7,087,381 (GRCm39)	missense	probably damaging	1.00
R7500:Adcy1	UTSW	11	7,094,762 (GRCm39)	missense	probably damaging	1.00
R7529:Adcy1	UTSW	11	7,089,157 (GRCm39)	missense	probably damaging	0.98
R8681:Adcy1	UTSW	11	7,111,328 (GRCm39)	missense	probably damaging	1.00
R8682:Adcy1	UTSW	11	7,111,328 (GRCm39)	missense	probably damaging	1.00
R8683:Adcy1	UTSW	11	7,111,328 (GRCm39)	missense	probably damaging	1.00
R8831:Adcy1	UTSW	11	7,111,362 (GRCm39)	missense	probably benign	0.02
R8859:Adcy1	UTSW	11	7,111,877 (GRCm39)	missense	probably benign	0.06
R8894:Adcy1	UTSW	11	7,087,375 (GRCm39)	missense	probably damaging	0.97
R8904:Adcy1	UTSW	11	7,059,075 (GRCm39)	missense	probably damaging	1.00
R8970:Adcy1	UTSW	11	7,099,983 (GRCm39)	missense	probably benign	0.00
R9037:Adcy1	UTSW	11	7,087,325 (GRCm39)	missense	possibly damaging	0.78
R9172:Adcy1	UTSW	11	7,110,317 (GRCm39)	missense	probably damaging	0.97
R9303:Adcy1	UTSW	11	7,094,766 (GRCm39)	missense	probably damaging	1.00
R9448:Adcy1	UTSW	11	7,099,575 (GRCm39)	missense	possibly damaging	0.94
R9694:Adcy1	UTSW	11	7,094,774 (GRCm39)	missense	probably damaging	1.00
R9763:Adcy1	UTSW	11	7,014,126 (GRCm39)	missense	probably damaging	1.00
X0027:Adcy1	UTSW	11	7,111,930 (GRCm39)	missense	possibly damaging	0.47
Z1088:Adcy1	UTSW	11	7,100,019 (GRCm39)	missense	probably benign	0.19
Z1176:Adcy1	UTSW	11	7,100,857 (GRCm39)	missense	probably damaging	0.96
Z1176:Adcy1	UTSW	11	7,099,536 (GRCm39)	missense	probably damaging	0.99
Z1176:Adcy1	UTSW	11	7,059,098 (GRCm39)	missense	probably damaging	1.00
Z1176:Adcy1	UTSW	11	7,100,858 (GRCm39)	missense	possibly damaging	0.62
Z1177:Adcy1	UTSW	11	7,094,802 (GRCm39)	missense	probably damaging	1.00
Z1177:Adcy1	UTSW	11	7,050,642 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GAAGATCCAGGCAGTGTTGG -3'
(R):5'- ATCTTCCAGTGTAGGTAGCCC -3'

Sequencing Primer
(F):5'- GCAGTGTTGGCTAAATGGAG -3'
(R):5'- AGTGTAGGTAGCCCAGTCC -3'

Posted On

2016-11-21