Mutagenetix > Incidental Mutation

Incidental Mutation 'R9763:Adcy1'

735822

Institutional Source

Beutler Lab

Gene Symbol

Adcy1

Ensembl Gene

ENSMUSG00000020431

Gene Name

adenylate cyclase 1

Synonyms

AC1, I-AC, D11Bwg1392e

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9763 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

7013489-7128506 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 7014126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 176 (L176Q)

Ref Sequence

ENSEMBL: ENSMUSP00000020706 (fasta)

Gene Model

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

AlphaFold

O88444

Predicted Effect

probably damaging
Transcript: ENSMUST00000020706
AA Change: L176Q

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

SMART Domains

Protein: ENSMUSP00000020706
Gene: ENSMUSG00000020431
AA Change: L176Q

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: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	T	1: 71,302,717 (GRCm39)	D2167E	possibly damaging	Het
Acadsb	T	A	7: 131,045,327 (GRCm39)	Y420N	probably benign	Het
Amdhd1	T	A	10: 93,367,398 (GRCm39)	K252M	possibly damaging	Het
Aspa	C	A	11: 73,213,094 (GRCm39)	E83*	probably null	Het
Atat1	A	G	17: 36,220,899 (GRCm39)	L10P	probably damaging	Het
Ccdc141	T	A	2: 76,869,919 (GRCm39)	N862I	probably damaging	Het
Cdkal1	A	T	13: 29,809,692 (GRCm39)	C217*	probably null	Het
Cttnbp2	C	T	6: 18,435,240 (GRCm39)	S206N	probably benign	Het
Dner	A	T	1: 84,361,656 (GRCm39)	I651N	possibly damaging	Het
Efcab3	G	A	11: 104,890,485 (GRCm39)	G4189E	possibly damaging	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Ercc6l2	T	C	13: 63,982,438 (GRCm39)	V91A	probably damaging	Het
Gask1a	A	G	9: 121,805,421 (GRCm39)	D404G	probably damaging	Het
Gm13941	A	G	2: 110,931,518 (GRCm39)	L38S	unknown	Het
Golph3l	G	A	3: 95,517,085 (GRCm39)	E198K	possibly damaging	Het
Hecw2	A	C	1: 53,963,074 (GRCm39)	D812E	probably damaging	Het
Ikzf2	T	A	1: 69,587,835 (GRCm39)	E212V	possibly damaging	Het
Il6st	C	T	13: 112,627,051 (GRCm39)	S281F	probably damaging	Het
Kmt2d	CTGTTG	CTG	15: 98,743,057 (GRCm39)		probably benign	Het
Krt71	T	G	15: 101,646,757 (GRCm39)	K317T	probably damaging	Het
Lgi4	T	C	7: 30,760,020 (GRCm39)	F72S	probably damaging	Het
Map3k1	C	T	13: 111,912,499 (GRCm39)	R174H	probably damaging	Het
Marveld3	T	A	8: 110,688,375 (GRCm39)	H122L	probably benign	Het
Mrgprb2	A	G	7: 48,202,174 (GRCm39)	S184P	probably benign	Het
Mylk	G	T	16: 34,699,482 (GRCm39)	G282*	probably null	Het
Myo16	T	A	8: 10,450,528 (GRCm39)	M510K	unknown	Het
Naip5	C	G	13: 100,367,269 (GRCm39)	A276P	probably damaging	Het
Or10a3	T	A	7: 108,480,874 (GRCm39)		probably benign	Het
Or10a3n	T	G	7: 108,493,210 (GRCm39)	I140L	probably benign	Het
Or3a1d	T	C	11: 74,238,041 (GRCm39)	Y3C	probably damaging	Het
Or4e5	T	G	14: 52,728,307 (GRCm39)	Y38S	probably damaging	Het
Or8j3	A	T	2: 86,028,181 (GRCm39)	M305K	probably benign	Het
Or9g20	T	G	2: 85,630,060 (GRCm39)	N185H	possibly damaging	Het
Pdzrn4	T	C	15: 92,668,376 (GRCm39)	Y843H	probably damaging	Het
Prkca	A	G	11: 107,903,867 (GRCm39)	V242A	possibly damaging	Het
Rbbp8	A	T	18: 11,865,261 (GRCm39)	M717L	probably benign	Het
Rnf150	T	C	8: 83,732,968 (GRCm39)	S272P	probably benign	Het
Rtraf	A	G	14: 19,866,314 (GRCm39)	V134A	probably damaging	Het
Rubcnl	T	A	14: 75,287,108 (GRCm39)	L592*	probably null	Het
Slc23a1	A	G	18: 35,755,364 (GRCm39)	S484P	probably damaging	Het
Slmap	A	G	14: 26,204,118 (GRCm39)	Y68H	probably damaging	Het
Speer4b	C	A	5: 27,705,206 (GRCm39)	V56L	probably damaging	Het
Sycp2l	T	A	13: 41,306,232 (GRCm39)	S84T		Het
Syne1	T	C	10: 5,007,858 (GRCm39)	D122G	probably benign	Het
Timd2	G	T	11: 46,573,540 (GRCm39)	P155T	probably benign	Het
Topbp1	G	A	9: 103,223,923 (GRCm39)	R1401Q	probably benign	Het
Trim36	C	A	18: 46,309,125 (GRCm39)	D312Y	probably benign	Het
Vps13c	A	G	9: 67,818,860 (GRCm39)	T1094A	probably benign	Het
Vwa8	T	A	14: 79,186,988 (GRCm39)	Y465N	probably damaging	Het
Zfpm1	T	C	8: 123,062,531 (GRCm39)	L530P	probably damaging	Het
Zmynd10	A	T	9: 107,425,965 (GRCm39)	T100S	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
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
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'- TGGTCACCAATGTCCGATCC -3'
(R):5'- GGAAGAACGTTAAACTCCTGCC -3'

Sequencing Primer
(F):5'- AATGTCCGATCCCTGCAGGTG -3'
(R):5'- GTTAAACTCCTGCCACCTCCAG -3'

Posted On

2022-11-14