Mutagenetix > Incidental Mutation

Incidental Mutation 'R5288:Adcy1'

424515

Institutional Source

Beutler Lab

Gene Symbol

Adcy1

Ensembl Gene

ENSMUSG00000020431

Gene Name

adenylate cyclase 1

Synonyms

AC1, I-AC, D11Bwg1392e

MMRRC Submission

042842-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5288 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

7013489-7128506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7111351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 881 (I881L)

Ref Sequence

ENSEMBL: ENSMUSP00000020706 (fasta)

Gene Model

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

AlphaFold

O88444

Predicted Effect

probably benign
Transcript: ENSMUST00000020706
AA Change: I881L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: I881L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135398

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	A	T	8: 87,293,168 (GRCm39)	Y7N	probably damaging	Het
Aftph	T	C	11: 20,676,994 (GRCm39)	D205G	probably damaging	Het
Aldh7a1	T	A	18: 56,667,325 (GRCm39)	N316Y	possibly damaging	Het
Ankrd36	A	G	11: 5,639,340 (GRCm39)		probably benign	Het
Ccdc88a	T	G	11: 29,448,416 (GRCm39)	N1465K	possibly damaging	Het
Ccpg1	G	A	9: 72,920,326 (GRCm39)	S647N	probably benign	Het
Cep70	T	A	9: 99,163,128 (GRCm39)	L325Q	probably damaging	Het
Cfap46	A	G	7: 139,193,423 (GRCm39)		probably null	Het
Cftr	C	T	6: 18,226,128 (GRCm39)	Q359*	probably null	Het
Chrne	A	T	11: 70,505,913 (GRCm39)	N457K	possibly damaging	Het
Cntn2	A	G	1: 132,451,415 (GRCm39)	I438T	probably benign	Het
Cntn4	T	C	6: 106,158,765 (GRCm39)	L10P	possibly damaging	Het
Copg1	G	T	6: 87,867,189 (GRCm39)	M87I	possibly damaging	Het
Cyfip1	A	T	7: 55,574,883 (GRCm39)	M1045L	possibly damaging	Het
Cyp2c29	C	T	19: 39,318,816 (GRCm39)	P432L	probably damaging	Het
Dcaf11	T	A	14: 55,800,833 (GRCm39)	D96E	probably damaging	Het
Dmxl2	A	G	9: 54,286,041 (GRCm39)	S2715P	probably benign	Het
Dnhd1	G	A	7: 105,363,644 (GRCm39)	E4069K	possibly damaging	Het
Dpy19l4	T	A	4: 11,289,721 (GRCm39)	N330I	probably damaging	Het
Dpy19l4	G	T	4: 11,304,014 (GRCm39)	A132D	probably damaging	Het
Duox2	A	G	2: 122,125,617 (GRCm39)	V330A	probably benign	Het
Dusp11	T	C	6: 85,924,587 (GRCm39)	*322W	probably null	Het
Dusp8	T	A	7: 141,643,730 (GRCm39)	Q61L	possibly damaging	Het
Eml3	G	A	19: 8,916,638 (GRCm39)	G720S	probably damaging	Het
F11	A	G	8: 45,699,833 (GRCm39)	S418P	probably damaging	Het
Fam91a1	G	A	15: 58,320,243 (GRCm39)	S645N	probably benign	Het
Fat2	G	A	11: 55,158,482 (GRCm39)	T3412I	probably benign	Het
Fbxo38	A	G	18: 62,674,042 (GRCm39)	M13T	probably benign	Het
Fbxo48	G	T	11: 16,904,329 (GRCm39)	L160F	possibly damaging	Het
Gm10134	T	A	2: 28,396,372 (GRCm39)		probably benign	Het
Gm11787	T	C	4: 3,511,795 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,399,053 (GRCm39)		probably null	Het
Gucy2g	G	A	19: 55,203,548 (GRCm39)	A750V	probably damaging	Het
Hephl1	T	C	9: 14,988,150 (GRCm39)	T653A	possibly damaging	Het
Herc3	T	A	6: 58,851,263 (GRCm39)	M504K	probably damaging	Het
Hmcn2	A	G	2: 31,350,333 (GRCm39)	T5077A	probably benign	Het
Ifitm3	T	C	7: 140,590,554 (GRCm39)	N2S	probably benign	Het
Ighe	T	C	12: 113,235,092 (GRCm39)	H356R	probably benign	Het
Ighv10-3	T	A	12: 114,487,125 (GRCm39)	M99L	probably benign	Het
Izumo4	C	A	10: 80,538,639 (GRCm39)	C30*	probably null	Het
Jag1	A	T	2: 136,937,464 (GRCm39)	H303Q	possibly damaging	Het
Kif24	T	C	4: 41,395,373 (GRCm39)	E500G	probably benign	Het
Kng1	A	T	16: 22,897,842 (GRCm39)	D414V	probably damaging	Het
Loxhd1	A	C	18: 77,451,308 (GRCm39)	D410A	probably damaging	Het
Ltn1	T	C	16: 87,212,899 (GRCm39)	K554R	possibly damaging	Het
Ly75	A	G	2: 60,133,985 (GRCm39)	C1547R	probably damaging	Het
Ms4a6d	A	T	19: 11,564,500 (GRCm39)	S124T	possibly damaging	Het
Mtcl3	A	G	10: 29,072,766 (GRCm39)	D686G	probably benign	Het
Mtfr2	A	G	10: 20,233,448 (GRCm39)	D339G	probably damaging	Het
Myh10	T	A	11: 68,692,434 (GRCm39)	L1369Q	probably damaging	Het
Myh11	A	T	16: 14,025,872 (GRCm39)	V1366D	possibly damaging	Het
Nadsyn1	A	G	7: 143,357,023 (GRCm39)	V491A	possibly damaging	Het
Nav3	T	C	10: 109,688,966 (GRCm39)	N437S	probably benign	Het
Ncf1	A	G	5: 134,250,659 (GRCm39)	L373P	probably damaging	Het
Neb	A	T	2: 52,079,873 (GRCm39)	I85N	probably damaging	Het
Nktr	A	G	9: 121,577,659 (GRCm39)	K576E	probably benign	Het
Nmur2	T	A	11: 55,931,040 (GRCm39)	I224F	probably damaging	Het
Oas3	A	G	5: 120,895,055 (GRCm39)	F978S	probably damaging	Het
Or10ag53	C	T	2: 87,082,827 (GRCm39)	P182L	probably benign	Het
Or10ak9	T	C	4: 118,726,772 (GRCm39)	S264P	probably damaging	Het
Or2r3	T	A	6: 42,448,186 (GRCm39)	I309F	probably benign	Het
Or2t48	A	T	11: 58,420,308 (GRCm39)	M168K	probably damaging	Het
Or5p60	T	C	7: 107,724,375 (GRCm39)	T32A	probably benign	Het
Pcyox1	A	T	6: 86,369,336 (GRCm39)		probably null	Het
Pdcd7	G	A	9: 65,265,974 (GRCm39)	W477*	probably null	Het
Pitpnm1	T	C	19: 4,153,435 (GRCm39)	F197S	probably damaging	Het
Plce1	C	A	19: 38,748,535 (GRCm39)	N1755K	probably damaging	Het
Pnpla7	C	A	2: 24,931,031 (GRCm39)	P882Q	probably damaging	Het
Pold2	A	G	11: 5,826,760 (GRCm39)	L58P	probably damaging	Het
Pomt1	C	G	2: 32,134,311 (GRCm39)	Y277*	probably null	Het
Pou4f2	A	G	8: 79,162,958 (GRCm39)	Y26H	unknown	Het
Pphln1-ps1	T	G	16: 13,495,622 (GRCm39)	N240K	probably benign	Het
Ppm1e	A	T	11: 87,249,377 (GRCm39)	L118Q	possibly damaging	Het
Pramel34	C	T	5: 93,785,607 (GRCm39)	M224I	possibly damaging	Het
Prdx2	T	A	8: 85,698,302 (GRCm39)	Y164*	probably null	Het
Prkra	T	G	2: 76,469,622 (GRCm39)	T146P	probably damaging	Het
Prpf8	A	G	11: 75,386,625 (GRCm39)	D1038G	probably damaging	Het
Rab4a	A	T	8: 124,554,113 (GRCm39)	I16L	probably benign	Het
Rai2	A	G	X: 160,561,636 (GRCm39)	N363S	probably benign	Het
Ranbp17	A	T	11: 33,169,241 (GRCm39)	V991D	possibly damaging	Het
Rimbp2	G	A	5: 128,865,656 (GRCm39)	T557M	probably benign	Het
Rmi1	G	A	13: 58,557,280 (GRCm39)	G510R	probably damaging	Het
Sdad1	A	G	5: 92,434,684 (GRCm39)	*687Q	probably null	Het
Sema6d	T	C	2: 124,506,166 (GRCm39)	L720P	probably damaging	Het
Setx	T	G	2: 29,024,045 (GRCm39)		probably null	Het
Sgsm3	T	C	15: 80,892,200 (GRCm39)	V256A	probably benign	Het
Slc28a2b	C	A	2: 122,353,259 (GRCm39)	L480I	probably benign	Het
Sppl2c	T	A	11: 104,078,127 (GRCm39)	I309K	possibly damaging	Het
Stard9	A	G	2: 120,531,111 (GRCm39)	E2456G	probably damaging	Het
Strn3	C	G	12: 51,694,803 (GRCm39)	R320P	probably damaging	Het
Supv3l1	A	T	10: 62,266,375 (GRCm39)	N600K	possibly damaging	Het
Syne2	T	A	12: 76,146,112 (GRCm39)	S6377T	possibly damaging	Het
Tas2r123	A	T	6: 132,824,190 (GRCm39)	H29L	probably benign	Het
Tbl3	C	T	17: 24,924,944 (GRCm39)	V52M	possibly damaging	Het
Tbp	A	G	17: 15,727,609 (GRCm39)	I145V	probably benign	Het
Tcf20	A	T	15: 82,739,910 (GRCm39)	S514T	possibly damaging	Het
Tgm4	A	G	9: 122,885,559 (GRCm39)	Y367C	probably damaging	Het
Tle1	C	T	4: 72,060,081 (GRCm39)	V258M	probably damaging	Het
Tln1	C	T	4: 43,540,661 (GRCm39)	V1447I	probably benign	Het
Tnfrsf11b	C	T	15: 54,141,622 (GRCm39)	A8T	probably benign	Het
Trim80	A	T	11: 115,338,843 (GRCm39)	T558S	probably benign	Het
Trmt6	C	A	2: 132,650,703 (GRCm39)	A302S	probably benign	Het
Tsen15	C	T	1: 152,259,131 (GRCm39)	V76I	probably damaging	Het
Ttc17	A	T	2: 94,133,985 (GRCm39)	W1067R	probably damaging	Het
Ucn3	A	T	13: 3,991,474 (GRCm39)	F59L	probably benign	Het
Ulk3	T	A	9: 57,498,023 (GRCm39)	I108N	possibly damaging	Het
Vmn2r94	A	C	17: 18,464,728 (GRCm39)	Y521D	probably damaging	Het
Vps45	T	C	3: 95,965,086 (GRCm39)	M1V	probably null	Het
Vta1	C	A	10: 14,581,143 (GRCm39)	L21F	probably damaging	Het
Zdhhc21	C	T	4: 82,765,929 (GRCm39)	G2D	probably damaging	Het
Zfp169	A	T	13: 48,643,751 (GRCm39)	C459S	possibly damaging	Het
Zfp90	C	T	8: 107,152,000 (GRCm39)	T571M	probably damaging	Het
Zswim8	A	T	14: 20,768,939 (GRCm39)	N1119I	possibly damaging	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
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
R5753:Adcy1	UTSW	11	7,080,300 (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'- AGCATTACCTGTGGAACCAAC -3'
(R):5'- AAGATGCTCTGTCCTGGACC -3'

Sequencing Primer
(F):5'- ATTACCTGTGGAACCAACTGGGC -3'
(R):5'- TGGACCCTACTGGAGACACAG -3'

Posted On

2016-08-04