Mutagenetix > Incidental Mutation

Incidental Mutation 'R6998:Adcy1'

544354

Institutional Source

Beutler Lab

Gene Symbol

Adcy1

Ensembl Gene

ENSMUSG00000020431

Gene Name

adenylate cyclase 1

Synonyms

AC1, I-AC, D11Bwg1392e

MMRRC Submission

045010-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6998 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7013489-7128506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 7029026 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 259 (N259H)

Ref Sequence

ENSEMBL: ENSMUSP00000020706 (fasta)

Gene Model

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

AlphaFold

O88444

Predicted Effect

probably damaging
Transcript: ENSMUST00000020706
AA Change: N259H

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

SMART Domains

Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: N259H

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam30	A	G	3: 98,070,026 (GRCm39)	R620G	probably benign	Het
Ahctf1	G	A	1: 179,598,480 (GRCm39)	R2*	probably null	Het
Akr1c21	A	G	13: 4,633,850 (GRCm39)	I306M	probably benign	Het
Alg9	T	A	9: 50,700,921 (GRCm39)	S230R	possibly damaging	Het
Armt1	T	A	10: 4,403,937 (GRCm39)	C341S	probably benign	Het
Aspg	T	A	12: 112,078,628 (GRCm39)	L29M	probably damaging	Het
Aspm	C	T	1: 139,397,210 (GRCm39)	T934I	probably damaging	Het
C1rl	T	C	6: 124,485,861 (GRCm39)	S411P	probably damaging	Het
Card14	A	G	11: 119,213,725 (GRCm39)	E224G	probably damaging	Het
Ccdc88c	T	C	12: 100,883,111 (GRCm39)	H1587R	probably damaging	Het
Ccp110	A	G	7: 118,332,120 (GRCm39)	T963A	possibly damaging	Het
Cdk11b	G	A	4: 155,732,800 (GRCm39)	W546*	probably null	Het
Cyp8b1	T	C	9: 121,745,059 (GRCm39)	N91S	probably benign	Het
Dab2	G	T	15: 6,454,130 (GRCm39)	M213I	possibly damaging	Het
Decr1	A	G	4: 15,930,960 (GRCm39)	V124A	probably damaging	Het
Fbxl13	T	A	5: 21,748,687 (GRCm39)	I411F	probably damaging	Het
Fbxl13	T	C	5: 21,825,611 (GRCm39)	I164V	probably null	Het
Fndc7	G	A	3: 108,783,964 (GRCm39)	A215V	probably benign	Het
Garem2	T	C	5: 30,319,168 (GRCm39)	M210T	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Ighv1-52	C	A	12: 115,109,112 (GRCm39)	A115S	probably benign	Het
Igkv6-13	A	G	6: 70,434,573 (GRCm39)	S91P	probably damaging	Het
Ints8	T	A	4: 11,204,537 (GRCm39)	E973V	possibly damaging	Het
Itga3	T	C	11: 94,942,288 (GRCm39)	K972R	probably benign	Het
Klhl33	A	T	14: 51,130,478 (GRCm39)	F339I	probably benign	Het
Krt79	T	C	15: 101,846,307 (GRCm39)	M214V	probably benign	Het
Lgsn	A	T	1: 31,243,274 (GRCm39)	H452L	probably benign	Het
Limd2	C	T	11: 106,049,516 (GRCm39)	G124D	probably benign	Het
Luzp1	T	C	4: 136,270,755 (GRCm39)	S993P	probably damaging	Het
Maml2	C	T	9: 13,532,481 (GRCm39)		probably benign	Het
Mbtd1	A	T	11: 93,815,438 (GRCm39)	H342L	probably damaging	Het
Mfhas1	C	A	8: 36,058,510 (GRCm39)	P995Q	probably damaging	Het
Muc5ac	T	C	7: 141,372,451 (GRCm39)	F3399S	possibly damaging	Het
Napb	T	C	2: 148,542,345 (GRCm39)	Y205C	probably damaging	Het
Odf2	G	T	2: 29,802,629 (GRCm39)	A298S	probably benign	Het
Or11g7	A	T	14: 50,690,890 (GRCm39)	Y127F	probably benign	Het
Or4s2b	A	T	2: 88,508,852 (GRCm39)	I218F	probably benign	Het
Or8k35	A	T	2: 86,424,488 (GRCm39)	M228K	probably damaging	Het
Pcsk5	T	C	19: 17,450,476 (GRCm39)	D1124G	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pik3c2b	T	G	1: 133,030,110 (GRCm39)	I1457S	probably benign	Het
Pole2	T	C	12: 69,260,680 (GRCm39)	T167A	possibly damaging	Het
Rfx7	T	A	9: 72,525,787 (GRCm39)	S992R	probably damaging	Het
Ryr2	G	T	13: 11,727,052 (GRCm39)	S2436R	probably damaging	Het
Sgo2a	A	G	1: 58,055,799 (GRCm39)	D661G	probably damaging	Het
Sh3glb2	T	A	2: 30,245,333 (GRCm39)	T49S	probably damaging	Het
Slc16a10	T	C	10: 39,932,499 (GRCm39)	K354R	possibly damaging	Het
Slc6a6	C	A	6: 91,729,419 (GRCm39)	T568K	probably benign	Het
Sptbn1	T	C	11: 30,050,633 (GRCm39)	T2319A	probably damaging	Het
Tbl1xr1	T	A	3: 22,233,454 (GRCm39)	Y15N	probably damaging	Het
Thyn1	T	C	9: 26,917,738 (GRCm39)	S160P	probably damaging	Het
Tshz1	A	T	18: 84,033,966 (GRCm39)	D147E	probably benign	Het
Vmn2r50	T	G	7: 9,771,684 (GRCm39)	R672S	probably benign	Het
Zfp663	A	T	2: 165,195,922 (GRCm39)	I99N	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
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
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
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'- TAGCCTGGACAGACCCTACATC -3'
(R):5'- AAGCAGCTCAGCTCCTTCAG -3'

Sequencing Primer
(F):5'- AGACCCTACATCTACACCTGTTC -3'
(R):5'- GGTCCTACCACGAATCAGTGAG -3'

Posted On

2019-05-13