Mutagenetix > Incidental Mutation

Incidental Mutation 'R4612:Akap12'

344850

Institutional Source

Beutler Lab

Gene Symbol

Akap12

Ensembl Gene

ENSMUSG00000038587

Gene Name

A kinase anchor protein 12

Synonyms

Tsga12, Srcs5, SSeCKS

MMRRC Submission

041823-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R4612 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4216380-4309470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4304456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 422 (D422G)

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: D527G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: D527G

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: D422G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216139

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	C	1: 52,964,635 (GRCm39)	D31G	probably benign	Het
5730455P16Rik	A	T	11: 80,268,806 (GRCm39)	M1K	probably null	Het
Abca15	A	G	7: 119,934,384 (GRCm39)	D120G	probably benign	Het
Adam26a	A	T	8: 44,021,830 (GRCm39)	N553K	probably damaging	Het
Adam32	A	T	8: 25,362,752 (GRCm39)	C558S	probably damaging	Het
Adam34l	A	T	8: 44,079,587 (GRCm39)	F212L	probably benign	Het
Adam39	A	T	8: 41,278,958 (GRCm39)	S450C	probably damaging	Het
Agap2	A	T	10: 126,915,965 (GRCm39)	T159S	unknown	Het
Ahnak	G	A	19: 8,981,088 (GRCm39)	V791I	probably benign	Het
Ak7	T	G	12: 105,727,772 (GRCm39)	L468R	probably damaging	Het
Antxr1	T	A	6: 87,265,155 (GRCm39)	I129F	probably damaging	Het
Arhgap32	G	A	9: 32,170,775 (GRCm39)	G1185D	probably damaging	Het
Atf7ip2	A	T	16: 10,059,427 (GRCm39)	E322D	probably benign	Het
Atg4b	T	C	1: 93,714,263 (GRCm39)	F349L	probably damaging	Het
Atp6v1c1	A	G	15: 38,677,856 (GRCm39)	K127R	probably damaging	Het
Atxn1l	C	T	8: 110,458,736 (GRCm39)	V509M	possibly damaging	Het
B3glct	T	A	5: 149,663,022 (GRCm39)	I260N	probably damaging	Het
Bcl2l12	G	A	7: 44,646,009 (GRCm39)	P70L	probably damaging	Het
Bok	T	A	1: 93,621,900 (GRCm39)	F157L	probably damaging	Het
Bves	G	A	10: 45,215,373 (GRCm39)	G16D	probably benign	Het
Cacna1b	T	A	2: 24,516,864 (GRCm39)	K65*	probably null	Het
Casc3	A	G	11: 98,713,784 (GRCm39)	T339A	probably benign	Het
Ccdc18	C	T	5: 108,283,307 (GRCm39)	S6L	probably benign	Het
Cd86	A	G	16: 36,435,692 (GRCm39)	Y242H	probably benign	Het
Chd3	A	C	11: 69,244,035 (GRCm39)	Y1249*	probably null	Het
Chrne	T	C	11: 70,507,848 (GRCm39)	T284A	probably damaging	Het
Col12a1	T	C	9: 79,523,339 (GRCm39)	D2746G	probably damaging	Het
Cryaa	T	A	17: 31,897,448 (GRCm39)	M72K	probably benign	Het
Csmd1	G	T	8: 15,971,908 (GRCm39)		probably null	Het
Det1	A	T	7: 78,493,454 (GRCm39)	N183K	probably damaging	Het
Dis3	C	A	14: 99,328,871 (GRCm39)	V294L	probably benign	Het
Dnah2	G	A	11: 69,374,193 (GRCm39)	L1493F	possibly damaging	Het
Dsc2	A	T	18: 20,174,876 (GRCm39)	D466E	probably damaging	Het
Dsg4	T	A	18: 20,595,470 (GRCm39)	S558T	probably benign	Het
Dzip3	A	T	16: 48,772,403 (GRCm39)	L422*	probably null	Het
Elp6	T	C	9: 110,143,087 (GRCm39)	F100S	probably damaging	Het
Epg5	C	T	18: 78,025,629 (GRCm39)	T1224I	possibly damaging	Het
Exoc1l	A	T	5: 76,664,345 (GRCm39)	N145Y	probably damaging	Het
F830016B08Rik	T	A	18: 60,434,087 (GRCm39)	I390N	probably benign	Het
Fam110c	A	G	12: 31,124,655 (GRCm39)	T206A	unknown	Het
Fam187b	G	A	7: 30,676,518 (GRCm39)	G9D	possibly damaging	Het
Fat1	A	G	8: 45,478,184 (GRCm39)	D2410G	probably damaging	Het
Fbln1	T	A	15: 85,122,760 (GRCm39)	F390Y	probably benign	Het
Fgg	A	G	3: 82,917,397 (GRCm39)	N142S	probably damaging	Het
Fhip1a	G	A	3: 85,637,679 (GRCm39)	R207*	probably null	Het
Flcn	T	C	11: 59,683,513 (GRCm39)	T555A	probably damaging	Het
Foxq1	G	T	13: 31,742,808 (GRCm39)		probably benign	Het
Gm3233	A	T	10: 77,595,498 (GRCm39)		probably benign	Het
Gprc5a	G	A	6: 135,055,927 (GRCm39)	V125I	probably damaging	Het
Gria2	T	C	3: 80,639,358 (GRCm39)	D218G	probably damaging	Het
Gtf3c5	C	T	2: 28,469,596 (GRCm39)	A103T	probably benign	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Hspg2	A	G	4: 137,266,886 (GRCm39)	T1964A	possibly damaging	Het
Htatip2	G	T	7: 49,422,345 (GRCm39)	E188*	probably null	Het
Ifna13	T	G	4: 88,562,113 (GRCm39)	E170D	probably damaging	Het
Il4ra	A	G	7: 125,175,255 (GRCm39)	T488A	probably benign	Het
Jup	G	T	11: 100,272,660 (GRCm39)	H251N	probably damaging	Het
Kif21a	A	T	15: 90,852,426 (GRCm39)		probably null	Het
Klhl28	T	A	12: 65,004,034 (GRCm39)	I160L	probably damaging	Het
Klk1b5	A	T	7: 43,494,696 (GRCm39)	T60S	possibly damaging	Het
Kntc1	A	G	5: 123,950,706 (GRCm39)	R1995G	probably damaging	Het
Lrig2	A	C	3: 104,370,099 (GRCm39)	I844M	probably damaging	Het
Lrp2	C	T	2: 69,288,771 (GRCm39)	W3698*	probably null	Het
Lyar	T	A	5: 38,382,053 (GRCm39)	S12T	possibly damaging	Het
Map3k19	T	C	1: 127,743,037 (GRCm39)	K1507E	probably benign	Het
Mre11a	G	A	9: 14,714,199 (GRCm39)	G267R	probably damaging	Het
Mthfd1l	A	G	10: 3,980,717 (GRCm39)	Q473R	probably damaging	Het
Ncald	T	A	15: 37,397,593 (GRCm39)	E29V	probably benign	Het
Neb	T	C	2: 52,177,255 (GRCm39)	D1362G	probably damaging	Het
Nme2	T	C	11: 93,846,428 (GRCm39)	T7A	possibly damaging	Het
Nod2	T	A	8: 89,391,664 (GRCm39)	L657Q	possibly damaging	Het
Nrm	T	A	17: 36,174,421 (GRCm39)	V75E	probably benign	Het
Ogfod1	A	C	8: 94,763,975 (GRCm39)	K20T	possibly damaging	Het
Omp	T	C	7: 97,794,348 (GRCm39)	N93S	probably damaging	Het
Or10h28	T	A	17: 33,488,454 (GRCm39)	V252E	probably benign	Het
Or14a256	T	A	7: 86,264,944 (GRCm39)	Q303L	probably benign	Het
Or5h27	T	C	16: 59,006,674 (GRCm39)	I57M	probably damaging	Het
Pcdhb15	A	C	18: 37,608,648 (GRCm39)	T627P	probably damaging	Het
Pld1	A	G	3: 28,185,882 (GRCm39)	T1036A	possibly damaging	Het
Pogk	C	A	1: 166,226,334 (GRCm39)	E606*	probably null	Het
Ppp1r10	T	A	17: 36,238,823 (GRCm39)	L292Q	probably damaging	Het
Prpf6	T	C	2: 181,273,872 (GRCm39)	C339R	possibly damaging	Het
Psd	T	A	19: 46,301,778 (GRCm39)	D937V	probably benign	Het
Rbak	T	C	5: 143,160,222 (GRCm39)	Q277R	probably benign	Het
Sbno1	T	A	5: 124,542,087 (GRCm39)	Y355F	probably damaging	Het
Sec23ip	C	T	7: 128,352,226 (GRCm39)	Q201*	probably null	Het
Serpinb3a	T	C	1: 106,975,337 (GRCm39)	K157E	probably damaging	Het
Slc22a28	A	T	19: 8,078,770 (GRCm39)	N306K	probably damaging	Het
Smarca2	C	A	19: 26,753,625 (GRCm39)	D1584E	possibly damaging	Het
Snx29	C	A	16: 11,265,359 (GRCm39)	Q530K	probably damaging	Het
Stard10	C	A	7: 100,994,877 (GRCm39)	Q278K	possibly damaging	Het
Tgm2	C	T	2: 157,966,124 (GRCm39)	C510Y	probably benign	Het
Tlr9	C	T	9: 106,101,006 (GRCm39)	P99L	probably damaging	Het
Tmco4	T	C	4: 138,717,871 (GRCm39)	W4R	probably benign	Het
Tmem151a	T	A	19: 5,121,862 (GRCm39)		probably benign	Het
Tmem255b	T	C	8: 13,504,228 (GRCm39)	V140A	probably benign	Het
Trbj1-2	C	T	6: 41,510,950 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,781,750 (GRCm39)	T290A	probably damaging	Het
Tsc22d1	G	A	14: 76,656,445 (GRCm39)	E120K	possibly damaging	Het
Ttc29	A	G	8: 79,052,175 (GRCm39)	D352G	probably benign	Het
Usp25	A	T	16: 76,830,833 (GRCm39)	I30F	possibly damaging	Het
Usp34	A	C	11: 23,382,268 (GRCm39)	N1993T	probably damaging	Het
Vmn2r124	A	C	17: 18,283,284 (GRCm39)	H326P	probably benign	Het
Vmn2r92	C	A	17: 18,387,132 (GRCm39)	T157K	probably benign	Het
Vstm5	A	T	9: 15,168,789 (GRCm39)	I118F	probably benign	Het
Vwa7	T	C	17: 35,242,426 (GRCm39)	V510A	probably damaging	Het
Zfhx4	G	A	3: 5,462,123 (GRCm39)	S1266N	probably damaging	Het
Zfp763	T	A	17: 33,237,922 (GRCm39)	N408Y	probably benign	Het
Zswim5	C	T	4: 116,843,901 (GRCm39)	H980Y	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
IGL02736:Akap12	APN	10	4,305,637 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GTCCTGAAGAGAAGATGCTACC -3'
(R):5'- TTTTGAAGGATGCCCAGGGG -3'

Sequencing Primer
(F):5'- TGAAGAGAAGATGCTACCCAAAC -3'
(R):5'- TCTCTCCGTCGGAAGTCG -3'

Posted On

2015-09-25