Mutagenetix > Incidental Mutation

Incidental Mutation 'R1458:Akap12'

161892

Institutional Source

Beutler Lab

Gene Symbol

Akap12

Ensembl Gene

ENSMUSG00000038587

Gene Name

A kinase (PRKA) anchor protein (gravin) 12

Synonyms

SSeCKS, Tsga12, Srcs5

MMRRC Submission

039513-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1458 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4266380-4359470 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4353693 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 168 (S168C)

Ref Sequence

ENSEMBL: ENSMUSP00000150261 (fasta)

Gene Model

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

AlphaFold

Q9WTQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045730
AA Change: S273C

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

SMART Domains

Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: S273C

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 damaging
Transcript: ENSMUST00000215696
AA Change: S168C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216139

Meta Mutation Damage Score

0.2020

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

98% (95/97)

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700036A12Rik	A	G	9: 60,769,761 (GRCm38)		noncoding transcript	Het
A430110L20Rik	T	A	1: 181,227,858 (GRCm38)		noncoding transcript	Het
Abce1	T	C	8: 79,707,235 (GRCm38)	K63R	possibly damaging	Het
Acp6	A	G	3: 97,173,788 (GRCm38)		probably benign	Het
Adamts13	T	A	2: 26,988,354 (GRCm38)	L579Q	probably damaging	Het
Adamtsl3	T	A	7: 82,523,320 (GRCm38)	M497K	probably damaging	Het
Adgrb2	T	A	4: 130,014,591 (GRCm38)	M1042K	possibly damaging	Het
Akap3	A	T	6: 126,865,554 (GRCm38)	M379L	probably damaging	Het
Aldh6a1	C	T	12: 84,439,663 (GRCm38)	M135I	probably null	Het
Arhgef12	A	G	9: 42,988,998 (GRCm38)	S860P	probably damaging	Het
Atp11b	A	C	3: 35,789,558 (GRCm38)	T185P	probably damaging	Het
Bcas1	T	C	2: 170,387,951 (GRCm38)	D243G	probably damaging	Het
Cdhr2	T	A	13: 54,717,872 (GRCm38)	S228T	probably damaging	Het
Cic	T	C	7: 25,279,737 (GRCm38)		probably benign	Het
Cmya5	T	A	13: 93,065,327 (GRCm38)	I3376L	probably benign	Het
Ctrc	C	A	4: 141,846,224 (GRCm38)		probably null	Het
D230025D16Rik	T	C	8: 105,246,556 (GRCm38)		probably null	Het
Dchs1	G	T	7: 105,755,244 (GRCm38)	P2697Q	probably damaging	Het
Dmbt1	A	G	7: 131,044,487 (GRCm38)		probably benign	Het
Drd2	G	A	9: 49,402,212 (GRCm38)	R227H	probably damaging	Het
Dscc1	C	A	15: 55,086,764 (GRCm38)	C195F	probably damaging	Het
Dzip1	T	A	14: 118,922,713 (GRCm38)	M28L	probably benign	Het
Edar	A	T	10: 58,607,366 (GRCm38)	S313T	probably benign	Het
Eef1e1	C	A	13: 38,656,123 (GRCm38)	A69S	probably damaging	Het
Fbn1	A	G	2: 125,301,929 (GRCm38)	V2760A	probably benign	Het
Fez1	GACAAACA	GACA	9: 36,870,549 (GRCm38)		probably null	Het
Fgl1	C	G	8: 41,210,459 (GRCm38)	A11P	possibly damaging	Het
Fras1	T	C	5: 96,600,733 (GRCm38)	V689A	probably benign	Het
Fry	T	A	5: 150,380,859 (GRCm38)	D571E	probably damaging	Het
Gm11232	T	A	4: 71,757,213 (GRCm38)	R104*	probably null	Het
Gm1527	A	G	3: 28,918,050 (GRCm38)	I439V	possibly damaging	Het
Gm4922	C	A	10: 18,783,892 (GRCm38)	G361*	probably null	Het
Gm7052	T	A	17: 22,040,466 (GRCm38)		probably benign	Het
Gm7534	T	C	4: 134,196,833 (GRCm38)	D467G	probably benign	Het
Gpatch8	A	T	11: 102,481,229 (GRCm38)	S494R	unknown	Het
Gria2	A	T	3: 80,732,045 (GRCm38)	V220E	possibly damaging	Het
Grik4	G	A	9: 42,521,122 (GRCm38)	H860Y	probably benign	Het
Gtpbp1	A	C	15: 79,707,729 (GRCm38)	S93R	probably damaging	Het
Gucy2g	C	A	19: 55,215,036 (GRCm38)		probably benign	Het
Hist1h2ae	C	A	13: 23,571,047 (GRCm38)		probably benign	Het
Hmcn1	G	A	1: 150,609,700 (GRCm38)	R4384C	probably damaging	Het
Hspa12b	G	C	2: 131,145,192 (GRCm38)	A678P	probably damaging	Het
Igsf21	T	A	4: 140,028,124 (GRCm38)	N407Y	probably damaging	Het
Insig2	A	G	1: 121,307,156 (GRCm38)	Y174H	probably benign	Het
Itpr3	T	A	17: 27,118,372 (GRCm38)	M2413K	probably benign	Het
Kalrn	A	T	16: 34,174,487 (GRCm38)	I1322N	probably damaging	Het
Klk1b24	T	A	7: 44,191,466 (GRCm38)	M106K	possibly damaging	Het
Krt81	G	T	15: 101,460,317 (GRCm38)	Q352K	probably benign	Het
Lca5l	A	T	16: 96,159,859 (GRCm38)	S468T	possibly damaging	Het
Lvrn	T	C	18: 46,882,385 (GRCm38)		probably benign	Het
Mcpt1	T	A	14: 56,019,164 (GRCm38)		probably benign	Het
Med13l	T	C	5: 118,738,459 (GRCm38)	M900T	probably benign	Het
Med16	A	G	10: 79,907,478 (GRCm38)		probably benign	Het
Megf6	G	T	4: 154,177,121 (GRCm38)	V68L	probably benign	Het
Mep1a	T	C	17: 43,491,672 (GRCm38)	H154R	probably damaging	Het
Mrc2	A	T	11: 105,337,772 (GRCm38)	D659V	probably benign	Het
Mroh8	T	A	2: 157,221,304 (GRCm38)	E799V	probably damaging	Het
Mrpl21	A	G	19: 3,284,808 (GRCm38)	Y50C	possibly damaging	Het
Msl1	A	G	11: 98,803,982 (GRCm38)		probably benign	Het
Myo1a	C	A	10: 127,719,937 (GRCm38)	Q932K	probably benign	Het
Nav3	A	C	10: 109,720,044 (GRCm38)	S1675R	probably damaging	Het
Neurl2	A	G	2: 164,832,746 (GRCm38)	V232A	possibly damaging	Het
Nfatc1	T	A	18: 80,665,267 (GRCm38)		probably benign	Het
Odf3l2	A	T	10: 79,645,558 (GRCm38)		probably benign	Het
Olfr1362	C	T	13: 21,611,822 (GRCm38)	C49Y	probably benign	Het
Olfr175-ps1	T	A	16: 58,824,676 (GRCm38)	E11V	probably null	Het
P4hb	A	G	11: 120,562,555 (GRCm38)		probably benign	Het
Papss1	T	G	3: 131,605,854 (GRCm38)	I281S	probably damaging	Het
Pde10a	A	T	17: 8,964,708 (GRCm38)	D832V	probably damaging	Het
Pfkfb2	A	T	1: 130,708,190 (GRCm38)	Y35N	possibly damaging	Het
Phf20l1	T	A	15: 66,604,813 (GRCm38)	F253Y	probably damaging	Het
Pkhd1l1	G	A	15: 44,516,115 (GRCm38)	V1046I	probably benign	Het
Plin3	C	T	17: 56,284,337 (GRCm38)	A148T	probably benign	Het
Ppp1r8	T	C	4: 132,840,631 (GRCm38)		probably benign	Het
Ppp2r3a	A	G	9: 101,211,312 (GRCm38)	L604P	probably damaging	Het
Prdm5	T	C	6: 65,883,601 (GRCm38)	V239A	probably damaging	Het
Prickle1	A	G	15: 93,500,638 (GRCm38)	S770P	probably damaging	Het
Prl2c5	T	A	13: 13,190,725 (GRCm38)	I155N	probably benign	Het
Prom1	T	C	5: 44,032,932 (GRCm38)		probably benign	Het
Psg25	C	T	7: 18,529,587 (GRCm38)	G104R	probably damaging	Het
Rbm19	T	C	5: 120,144,029 (GRCm38)	V817A	probably benign	Het
Ryr2	T	A	13: 11,727,022 (GRCm38)	Y2091F	probably damaging	Het
Slc16a4	A	G	3: 107,300,932 (GRCm38)	T253A	probably benign	Het
Smg7	A	T	1: 152,855,843 (GRCm38)		probably null	Het
Spink5	C	A	18: 44,007,719 (GRCm38)	H662N	probably benign	Het
Taf2	A	T	15: 55,059,915 (GRCm38)	M322K	probably damaging	Het
Tmc2	T	C	2: 130,248,762 (GRCm38)	F676S	probably damaging	Het
Tmem177	A	G	1: 119,910,185 (GRCm38)	S255P	possibly damaging	Het
Trim46	A	T	3: 89,235,068 (GRCm38)		probably null	Het
Tubb1	T	A	2: 174,450,803 (GRCm38)		probably null	Het
Upf1	T	C	8: 70,344,254 (GRCm38)	T110A	probably benign	Het
Vmn2r9	T	A	5: 108,848,984 (GRCm38)	I140L	probably benign	Het
Zfp638	T	A	6: 83,944,656 (GRCm38)	H588Q	probably damaging	Het
Zfp780b	T	A	7: 27,964,827 (GRCm38)	N101I	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	4,353,273 (GRCm38)	missense	probably benign	0.04
IGL01360:Akap12	APN	10	4,357,537 (GRCm38)	missense	probably benign	0.02
IGL01455:Akap12	APN	10	4,356,886 (GRCm38)	missense	probably damaging	0.99
IGL01458:Akap12	APN	10	4,354,060 (GRCm38)	missense	probably damaging	1.00
IGL01465:Akap12	APN	10	4,356,886 (GRCm38)	missense	probably damaging	0.99
IGL02348:Akap12	APN	10	4,354,722 (GRCm38)	missense	probably damaging	1.00
IGL02425:Akap12	APN	10	4,356,034 (GRCm38)	missense	possibly damaging	0.67
IGL02502:Akap12	APN	10	4,353,163 (GRCm38)	missense	probably damaging	1.00
IGL02736:Akap12	APN	10	4,355,637 (GRCm38)	missense	probably benign
IGL02969:Akap12	APN	10	4,354,864 (GRCm38)	missense	probably damaging	1.00
IGL03345:Akap12	APN	10	4,356,697 (GRCm38)	missense	probably benign	0.42
ANU23:Akap12	UTSW	10	4,353,273 (GRCm38)	missense	probably benign	0.04
FR4976:Akap12	UTSW	10	4,353,837 (GRCm38)	small insertion	probably benign
R0004:Akap12	UTSW	10	4,353,220 (GRCm38)	missense	probably damaging	1.00
R0004:Akap12	UTSW	10	4,353,218 (GRCm38)	missense	possibly damaging	0.56
R0207:Akap12	UTSW	10	4,353,333 (GRCm38)	missense	probably damaging	1.00
R0580:Akap12	UTSW	10	4,354,741 (GRCm38)	missense	possibly damaging	0.91
R0675:Akap12	UTSW	10	4,353,315 (GRCm38)	missense	probably benign	0.06
R1248:Akap12	UTSW	10	4,353,847 (GRCm38)	missense	probably benign	0.11
R1338:Akap12	UTSW	10	4,313,773 (GRCm38)	missense	possibly damaging	0.95
R1448:Akap12	UTSW	10	4,355,475 (GRCm38)	missense	probably benign	0.22
R1521:Akap12	UTSW	10	4,354,804 (GRCm38)	missense	probably benign	0.02
R1585:Akap12	UTSW	10	4,353,640 (GRCm38)	missense	probably benign	0.11
R1725:Akap12	UTSW	10	4,353,942 (GRCm38)	missense	probably damaging	1.00
R1756:Akap12	UTSW	10	4,357,574 (GRCm38)	missense	probably benign	0.04
R1914:Akap12	UTSW	10	4,356,685 (GRCm38)	missense	probably benign	0.01
R1978:Akap12	UTSW	10	4,313,855 (GRCm38)	missense	probably benign	0.06
R2032:Akap12	UTSW	10	4,356,673 (GRCm38)	missense	possibly damaging	0.50
R2041:Akap12	UTSW	10	4,356,489 (GRCm38)	missense	probably benign	0.01
R3009:Akap12	UTSW	10	4,357,891 (GRCm38)	missense	probably benign	0.06
R3872:Akap12	UTSW	10	4,357,590 (GRCm38)	missense	probably benign	0.00
R3874:Akap12	UTSW	10	4,357,590 (GRCm38)	missense	probably benign	0.00
R3875:Akap12	UTSW	10	4,357,590 (GRCm38)	missense	probably benign	0.00
R3944:Akap12	UTSW	10	4,357,347 (GRCm38)	missense	probably benign	0.00
R4612:Akap12	UTSW	10	4,354,456 (GRCm38)	missense	probably damaging	1.00
R4889:Akap12	UTSW	10	4,356,535 (GRCm38)	missense	probably damaging	0.97
R5043:Akap12	UTSW	10	4,355,047 (GRCm38)	missense	probably damaging	1.00
R5176:Akap12	UTSW	10	4,353,947 (GRCm38)	missense	probably benign	0.19
R5278:Akap12	UTSW	10	4,354,792 (GRCm38)	missense	probably benign	0.02
R5320:Akap12	UTSW	10	4,357,291 (GRCm38)	missense	probably benign	0.00
R5443:Akap12	UTSW	10	4,355,576 (GRCm38)	missense	probably damaging	1.00
R5533:Akap12	UTSW	10	4,357,405 (GRCm38)	missense	probably damaging	1.00
R6133:Akap12	UTSW	10	4,355,178 (GRCm38)	missense	probably benign	0.05
R6142:Akap12	UTSW	10	4,313,740 (GRCm38)	splice site	probably null
R6190:Akap12	UTSW	10	4,356,268 (GRCm38)	missense	possibly damaging	0.92
R6458:Akap12	UTSW	10	4,355,148 (GRCm38)	missense	probably damaging	1.00
R6562:Akap12	UTSW	10	4,356,141 (GRCm38)	nonsense	probably null
R6701:Akap12	UTSW	10	4,355,243 (GRCm38)	missense	probably damaging	1.00
R6828:Akap12	UTSW	10	4,354,606 (GRCm38)	missense	probably damaging	0.96
R6991:Akap12	UTSW	10	4,357,122 (GRCm38)	nonsense	probably null
R7023:Akap12	UTSW	10	4,356,895 (GRCm38)	missense	probably benign	0.05
R7102:Akap12	UTSW	10	4,353,226 (GRCm38)	missense	probably damaging	1.00
R7483:Akap12	UTSW	10	4,353,967 (GRCm38)	missense	probably benign	0.00
R7538:Akap12	UTSW	10	4,353,213 (GRCm38)	missense	probably damaging	1.00
R7664:Akap12	UTSW	10	4,353,748 (GRCm38)	missense	probably damaging	1.00
R7704:Akap12	UTSW	10	4,356,082 (GRCm38)	missense	probably damaging	1.00
R8447:Akap12	UTSW	10	4,356,289 (GRCm38)	missense	probably benign	0.32
R8502:Akap12	UTSW	10	4,313,856 (GRCm38)	missense	probably benign	0.22
R8910:Akap12	UTSW	10	4,313,822 (GRCm38)	missense	probably benign
R8946:Akap12	UTSW	10	4,354,368 (GRCm38)	missense	probably damaging	1.00
R9003:Akap12	UTSW	10	4,356,744 (GRCm38)	missense	probably benign	0.32
R9237:Akap12	UTSW	10	4,357,231 (GRCm38)	missense	probably benign
R9347:Akap12	UTSW	10	4,353,640 (GRCm38)	missense	probably benign	0.11
R9428:Akap12	UTSW	10	4,353,409 (GRCm38)	missense	probably damaging	1.00
R9734:Akap12	UTSW	10	4,355,929 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCAGATACCGTCCAGCTACTCAC -3'
(R):5'- GGCAACTCCACCTTCTCATAGTCG -3'

Sequencing Primer
(F):5'- GCTACTCACTGTCAAGAAGGATG -3'
(R):5'- AACCTGGCCTGGTCTGTG -3'

Posted On

2014-03-14