Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02736:Akap12'

305653

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Akap12

Ensembl Gene

ENSMUSG00000038587

Gene Name

A kinase anchor protein 12

Synonyms

Tsga12, Srcs5, SSeCKS

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

IGL02736

Quality Score

Status

Chromosome

Chromosomal Location

4216380-4309470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4305637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 816 (I816V)

Ref Sequence

ENSEMBL: ENSMUSP00000150261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045730] [ENSMUST00000215696]

AlphaFold

Q9WTQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000045730
AA Change: I921V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: I921V

Domain	Start	End	E-Value	Type
low complexity region	30	48	N/A	INTRINSIC
low complexity region	120	132	N/A	INTRINSIC
low complexity region	151	171	N/A	INTRINSIC
low complexity region	187	198	N/A	INTRINSIC
internal_repeat_1	212	279	3.2e-5	PROSPERO
coiled coil region	304	331	N/A	INTRINSIC
low complexity region	387	398	N/A	INTRINSIC
low complexity region	407	424	N/A	INTRINSIC
low complexity region	432	446	N/A	INTRINSIC
low complexity region	497	526	N/A	INTRINSIC
low complexity region	550	561	N/A	INTRINSIC
low complexity region	571	582	N/A	INTRINSIC
Pfam:WSK	591	619	2e-15	PFAM
low complexity region	626	637	N/A	INTRINSIC
low complexity region	673	684	N/A	INTRINSIC
low complexity region	700	711	N/A	INTRINSIC
Pfam:WSK	738	766	2.3e-15	PFAM
Pfam:WSK	779	807	6.2e-11	PFAM
low complexity region	951	973	N/A	INTRINSIC
low complexity region	1050	1065	N/A	INTRINSIC
low complexity region	1177	1187	N/A	INTRINSIC
internal_repeat_1	1197	1265	3.2e-5	PROSPERO
low complexity region	1303	1312	N/A	INTRINSIC
Pfam:RII_binding_1	1501	1518	4.2e-7	PFAM
coiled coil region	1651	1676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215696
AA Change: I816V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216139

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele disrupting all three common isoforms suffer from prostatic hyperplasia and focal dysplasia, and from delayed fertility. Mice homozygous for a gene trap allele exhibit enhanced cardiac function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	G	A	1: 12,042,275 (GRCm39)	A416T	probably benign	Het
Aadacl4fm1	G	A	4: 144,255,207 (GRCm39)	R209K	probably benign	Het
Antxrl	A	G	14: 33,778,575 (GRCm39)		probably benign	Het
Atp1a3	G	A	7: 24,679,534 (GRCm39)	T920I	probably damaging	Het
Cd22	C	T	7: 30,577,470 (GRCm39)		probably null	Het
Cntn3	T	A	6: 102,180,900 (GRCm39)	N765I	probably damaging	Het
Cracdl	T	C	1: 37,676,954 (GRCm39)	E76G	probably damaging	Het
Crebbp	G	A	16: 3,972,774 (GRCm39)	P307S	probably benign	Het
Dapk2	T	A	9: 66,176,198 (GRCm39)	M333K	probably benign	Het
Decr1	T	A	4: 15,930,952 (GRCm39)	T127S	probably benign	Het
Dnmbp	A	T	19: 43,838,209 (GRCm39)		probably benign	Het
Erbin	A	G	13: 103,975,903 (GRCm39)	S664P	probably damaging	Het
Hectd4	G	T	5: 121,480,782 (GRCm39)	C2941F	possibly damaging	Het
Ighv1-4	A	G	12: 114,450,872 (GRCm39)	Y79H	probably benign	Het
Matn3	T	A	12: 9,005,422 (GRCm39)	D277E	possibly damaging	Het
Mgarp	C	A	3: 51,303,866 (GRCm39)	A36S	possibly damaging	Het
Mycbp2	A	G	14: 103,351,678 (GRCm39)		probably benign	Het
Nynrin	G	A	14: 56,108,366 (GRCm39)	A1158T	probably damaging	Het
Or4k5	G	A	14: 50,385,881 (GRCm39)	A150V	probably benign	Het
Or6k14	T	G	1: 173,927,213 (GRCm39)	I63S	probably damaging	Het
Pakap	C	A	4: 57,709,721 (GRCm39)	A222E	probably damaging	Het
Pkd1l2	T	C	8: 117,767,405 (GRCm39)	D1295G	probably benign	Het
Ppig	A	G	2: 69,566,438 (GRCm39)	I171M	probably damaging	Het
Ptprs	A	T	17: 56,765,248 (GRCm39)	V12E	possibly damaging	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Rpgrip1l	T	A	8: 91,990,219 (GRCm39)	Q741L	possibly damaging	Het
Slco6d1	T	C	1: 98,356,036 (GRCm39)	V157A	possibly damaging	Het
Sox6	A	C	7: 115,179,875 (GRCm39)	D302E	probably damaging	Het
Spata3	T	C	1: 85,952,157 (GRCm39)	V136A	probably damaging	Het
St6galnac6	G	A	2: 32,504,983 (GRCm39)	R129H	probably benign	Het
Tmem184c	A	T	8: 78,324,475 (GRCm39)	D338E	probably damaging	Het
Tmem67	A	G	4: 12,045,789 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,708,614 (GRCm39)		probably benign	Het
Usp16	T	C	16: 87,261,723 (GRCm39)	V113A	possibly damaging	Het
Utrn	A	G	10: 12,297,384 (GRCm39)	Y675H	probably damaging	Het
Zc3h4	T	A	7: 16,151,308 (GRCm39)	Y117*	probably null	Het
Zc3h7b	A	T	15: 81,676,175 (GRCm39)	M694L	probably benign	Het
Zfp345	A	T	2: 150,316,474 (GRCm39)	Y45N	probably damaging	Het

Other mutations in Akap12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00712:Akap12	APN	10	4,357,164 (GRCm38)	missense	probably benign	0.09
IGL01306:Akap12	APN	10	4,303,273 (GRCm39)	missense	probably benign	0.04
IGL01360:Akap12	APN	10	4,307,537 (GRCm39)	missense	probably benign	0.02
IGL01455:Akap12	APN	10	4,306,886 (GRCm39)	missense	probably damaging	0.99
IGL01458:Akap12	APN	10	4,304,060 (GRCm39)	missense	probably damaging	1.00
IGL01465:Akap12	APN	10	4,306,886 (GRCm39)	missense	probably damaging	0.99
IGL02348:Akap12	APN	10	4,304,722 (GRCm39)	missense	probably damaging	1.00
IGL02425:Akap12	APN	10	4,306,034 (GRCm39)	missense	possibly damaging	0.67
IGL02502:Akap12	APN	10	4,303,163 (GRCm39)	missense	probably damaging	1.00
IGL02969:Akap12	APN	10	4,304,864 (GRCm39)	missense	probably damaging	1.00
IGL03345:Akap12	APN	10	4,306,697 (GRCm39)	missense	probably benign	0.42
ANU23:Akap12	UTSW	10	4,303,273 (GRCm39)	missense	probably benign	0.04
FR4976:Akap12	UTSW	10	4,303,837 (GRCm39)	small insertion	probably benign
R0004:Akap12	UTSW	10	4,303,220 (GRCm39)	missense	probably damaging	1.00
R0004:Akap12	UTSW	10	4,303,218 (GRCm39)	missense	possibly damaging	0.56
R0207:Akap12	UTSW	10	4,303,333 (GRCm39)	missense	probably damaging	1.00
R0580:Akap12	UTSW	10	4,304,741 (GRCm39)	missense	possibly damaging	0.91
R0675:Akap12	UTSW	10	4,303,315 (GRCm39)	missense	probably benign	0.06
R1248:Akap12	UTSW	10	4,303,847 (GRCm39)	missense	probably benign	0.11
R1338:Akap12	UTSW	10	4,263,773 (GRCm39)	missense	possibly damaging	0.95
R1448:Akap12	UTSW	10	4,305,475 (GRCm39)	missense	probably benign	0.22
R1458:Akap12	UTSW	10	4,303,693 (GRCm39)	missense	probably damaging	1.00
R1521:Akap12	UTSW	10	4,304,804 (GRCm39)	missense	probably benign	0.02
R1585:Akap12	UTSW	10	4,303,640 (GRCm39)	missense	probably benign	0.11
R1725:Akap12	UTSW	10	4,303,942 (GRCm39)	missense	probably damaging	1.00
R1756:Akap12	UTSW	10	4,307,574 (GRCm39)	missense	probably benign	0.04
R1914:Akap12	UTSW	10	4,306,685 (GRCm39)	missense	probably benign	0.01
R1978:Akap12	UTSW	10	4,263,855 (GRCm39)	missense	probably benign	0.06
R2032:Akap12	UTSW	10	4,306,673 (GRCm39)	missense	possibly damaging	0.50
R2041:Akap12	UTSW	10	4,306,489 (GRCm39)	missense	probably benign	0.01
R3009:Akap12	UTSW	10	4,307,891 (GRCm39)	missense	probably benign	0.06
R3872:Akap12	UTSW	10	4,307,590 (GRCm39)	missense	probably benign	0.00
R3874:Akap12	UTSW	10	4,307,590 (GRCm39)	missense	probably benign	0.00
R3875:Akap12	UTSW	10	4,307,590 (GRCm39)	missense	probably benign	0.00
R3944:Akap12	UTSW	10	4,307,347 (GRCm39)	missense	probably benign	0.00
R4612:Akap12	UTSW	10	4,304,456 (GRCm39)	missense	probably damaging	1.00
R4889:Akap12	UTSW	10	4,306,535 (GRCm39)	missense	probably damaging	0.97
R5043:Akap12	UTSW	10	4,305,047 (GRCm39)	missense	probably damaging	1.00
R5176:Akap12	UTSW	10	4,303,947 (GRCm39)	missense	probably benign	0.19
R5278:Akap12	UTSW	10	4,304,792 (GRCm39)	missense	probably benign	0.02
R5320:Akap12	UTSW	10	4,307,291 (GRCm39)	missense	probably benign	0.00
R5443:Akap12	UTSW	10	4,305,576 (GRCm39)	missense	probably damaging	1.00
R5533:Akap12	UTSW	10	4,307,405 (GRCm39)	missense	probably damaging	1.00
R6133:Akap12	UTSW	10	4,305,178 (GRCm39)	missense	probably benign	0.05
R6142:Akap12	UTSW	10	4,263,740 (GRCm39)	splice site	probably null
R6190:Akap12	UTSW	10	4,306,268 (GRCm39)	missense	possibly damaging	0.92
R6458:Akap12	UTSW	10	4,305,148 (GRCm39)	missense	probably damaging	1.00
R6562:Akap12	UTSW	10	4,306,141 (GRCm39)	nonsense	probably null
R6701:Akap12	UTSW	10	4,305,243 (GRCm39)	missense	probably damaging	1.00
R6828:Akap12	UTSW	10	4,304,606 (GRCm39)	missense	probably damaging	0.96
R6991:Akap12	UTSW	10	4,307,122 (GRCm39)	nonsense	probably null
R7023:Akap12	UTSW	10	4,306,895 (GRCm39)	missense	probably benign	0.05
R7102:Akap12	UTSW	10	4,303,226 (GRCm39)	missense	probably damaging	1.00
R7483:Akap12	UTSW	10	4,303,967 (GRCm39)	missense	probably benign	0.00
R7538:Akap12	UTSW	10	4,303,213 (GRCm39)	missense	probably damaging	1.00
R7664:Akap12	UTSW	10	4,303,748 (GRCm39)	missense	probably damaging	1.00
R7704:Akap12	UTSW	10	4,306,082 (GRCm39)	missense	probably damaging	1.00
R8447:Akap12	UTSW	10	4,306,289 (GRCm39)	missense	probably benign	0.32
R8502:Akap12	UTSW	10	4,263,856 (GRCm39)	missense	probably benign	0.22
R8910:Akap12	UTSW	10	4,263,822 (GRCm39)	missense	probably benign
R8946:Akap12	UTSW	10	4,304,368 (GRCm39)	missense	probably damaging	1.00
R9003:Akap12	UTSW	10	4,306,744 (GRCm39)	missense	probably benign	0.32
R9237:Akap12	UTSW	10	4,307,231 (GRCm39)	missense	probably benign
R9347:Akap12	UTSW	10	4,303,640 (GRCm39)	missense	probably benign	0.11
R9428:Akap12	UTSW	10	4,303,409 (GRCm39)	missense	probably damaging	1.00
R9734:Akap12	UTSW	10	4,305,929 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16