Mutagenetix > Incidental Mutation

Incidental Mutation 'R7102:Akap12'

550926

Institutional Source

Beutler Lab

Gene Symbol

Akap12

Ensembl Gene

ENSMUSG00000038587

Gene Name

A kinase anchor protein 12

Synonyms

Tsga12, Srcs5, SSeCKS

MMRRC Submission

045194-MU

Accession Numbers

Essential gene?

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

Stock #

R7102 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4216380-4309470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4303226 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 117 (T117I)

Ref Sequence

ENSEMBL: ENSMUSP00000035829 (fasta)

Gene Model

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

AlphaFold

Q9WTQ5

Predicted Effect

probably damaging
Transcript: ENSMUST00000045730
AA Change: T117I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: T117I

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: T12I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

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.] 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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,285,215 (GRCm39)	H3283L	probably damaging	Het
Abcb1a	T	G	5: 8,744,072 (GRCm39)	S233A	probably benign	Het
Actr10	T	C	12: 70,999,805 (GRCm39)		probably null	Het
Acvr2b	C	T	9: 119,261,619 (GRCm39)	A380V	probably damaging	Het
Adcy5	A	G	16: 35,119,995 (GRCm39)	E1168G	probably damaging	Het
Alox5	T	A	6: 116,390,429 (GRCm39)	Y516F	probably benign	Het
Amigo2	T	C	15: 97,143,741 (GRCm39)	N227S	probably damaging	Het
Anpep	C	A	7: 79,486,061 (GRCm39)	V554L	probably benign	Het
Ap5b1	T	A	19: 5,620,215 (GRCm39)	V545E	possibly damaging	Het
Bbs9	C	T	9: 22,490,849 (GRCm39)	L326F	probably damaging	Het
Bltp1	T	G	3: 36,994,947 (GRCm39)	Y990D	probably damaging	Het
Cadps	C	T	14: 12,603,738 (GRCm38)	G361R	probably damaging	Het
Ccdc57	C	A	11: 120,812,557 (GRCm39)	E66*	probably null	Het
Ccr6	G	A	17: 8,475,019 (GRCm39)	V75I	probably benign	Het
Cdk6	T	C	5: 3,570,709 (GRCm39)	F300S	probably damaging	Het
Cenpb	A	C	2: 131,020,799 (GRCm39)	V333G	probably damaging	Het
Clca4a	T	C	3: 144,667,670 (GRCm39)	I434V	probably benign	Het
Coro2b	T	A	9: 62,328,667 (GRCm39)	D447V	possibly damaging	Het
Cpeb3	T	C	19: 37,152,119 (GRCm39)	S86G	probably benign	Het
Cry2	C	A	2: 92,243,438 (GRCm39)	A468S	probably damaging	Het
Csf2rb2	T	C	15: 78,181,272 (GRCm39)	Y40C	probably damaging	Het
Ddx49	T	A	8: 70,753,726 (GRCm39)	T48S	probably damaging	Het
Dennd10	T	A	19: 60,821,034 (GRCm39)	M272K	probably damaging	Het
Dip2c	A	G	13: 9,654,572 (GRCm39)	T727A	probably benign	Het
Dnai3	A	T	3: 145,761,459 (GRCm39)	S632R	possibly damaging	Het
Ebf4	A	T	2: 130,151,651 (GRCm39)	I183F	probably benign	Het
Elavl3	G	T	9: 21,930,025 (GRCm39)	P293Q	possibly damaging	Het
Esyt1	A	T	10: 128,352,105 (GRCm39)	L768Q	probably damaging	Het
Fat2	G	A	11: 55,174,260 (GRCm39)	P2151L	probably damaging	Het
Fgfbp3	G	T	19: 36,896,606 (GRCm39)	A4E	possibly damaging	Het
Flg	T	A	3: 93,200,335 (GRCm39)	V277D	unknown	Het
Fndc3b	T	C	3: 27,524,383 (GRCm39)	D459G	possibly damaging	Het
Fras1	A	G	5: 96,718,900 (GRCm39)	Q438R	probably benign	Het
Glipr1l2	A	T	10: 111,928,330 (GRCm39)		probably null	Het
Gm7347	T	A	5: 26,262,382 (GRCm39)		probably null	Het
Grm6	G	A	11: 50,753,804 (GRCm39)	V703I	possibly damaging	Het
Gtf2h1	T	A	7: 46,468,550 (GRCm39)	V496E	probably benign	Het
Ifna12	A	G	4: 88,521,388 (GRCm39)	L53P	probably damaging	Het
Invs	T	A	4: 48,407,674 (GRCm39)	S550T	probably benign	Het
Irak2	G	T	6: 113,663,810 (GRCm39)	C453F	probably damaging	Het
Itih2	G	T	2: 10,110,574 (GRCm39)	Q506K	probably benign	Het
Kidins220	T	C	12: 25,107,662 (GRCm39)	I1614T	probably benign	Het
Krtap5-3	T	A	7: 141,755,992 (GRCm39)	C276*	probably null	Het
Lama3	T	A	18: 12,685,870 (GRCm39)	M1128K	possibly damaging	Het
Lhfpl4	C	T	6: 113,171,106 (GRCm39)	A27T	possibly damaging	Het
Lyplal1	A	G	1: 185,832,524 (GRCm39)	V77A	probably damaging	Het
Malrd1	A	T	2: 16,147,114 (GRCm39)	E1985D	unknown	Het
Mlx	A	C	11: 100,979,802 (GRCm39)	Q161P	probably benign	Het
Mroh2b	T	A	15: 4,977,485 (GRCm39)	M1279K	probably benign	Het
Myh7b	A	G	2: 155,464,119 (GRCm39)	E540G	probably damaging	Het
Neb	T	A	2: 52,194,067 (GRCm39)	D653V	probably damaging	Het
Nek10	T	A	14: 14,828,517 (GRCm38)	L113Q	probably damaging	Het
Nlrp4c	T	A	7: 6,068,708 (GRCm39)	L203*	probably null	Het
Nscme3l	T	A	19: 5,553,623 (GRCm39)	T53S	probably benign	Het
Ntpcr	T	A	8: 126,456,794 (GRCm39)	C5S	unknown	Het
Nwd1	A	G	8: 73,421,957 (GRCm39)	D1001G	probably damaging	Het
Or12j5	T	A	7: 140,084,229 (GRCm39)	T48S	probably benign	Het
Or14a256	C	T	7: 86,265,475 (GRCm39)	C126Y	probably benign	Het
Or4p22	T	A	2: 88,317,492 (GRCm39)	C139S	probably damaging	Het
Or6c208	A	C	10: 129,224,036 (GRCm39)	D178A	probably damaging	Het
Osbpl3	T	A	6: 50,297,115 (GRCm39)	S564C	probably damaging	Het
Pax6	C	A	2: 105,522,604 (GRCm39)	P264T	probably damaging	Het
Plppr4	T	C	3: 117,116,832 (GRCm39)	R342G	probably damaging	Het
Prg4	C	T	1: 150,328,005 (GRCm39)	C220Y	probably damaging	Het
Prune2	T	A	19: 17,098,577 (GRCm39)	D1360E	probably benign	Het
Ranbp2	T	A	10: 58,299,772 (GRCm39)	S469T	probably damaging	Het
Rbfox1	A	T	16: 7,187,698 (GRCm39)	K43N	probably benign	Het
Rgs22	T	C	15: 36,122,459 (GRCm39)	D25G	probably damaging	Het
Rnf113a2	G	A	12: 84,464,545 (GRCm39)	G146S	probably damaging	Het
Sbpl	T	A	17: 24,173,608 (GRCm39)	K55*	probably null	Het
Scel	G	A	14: 103,781,268 (GRCm39)	W138*	probably null	Het
Scgb2b19	T	C	7: 32,979,711 (GRCm39)	I12V	probably null	Het
Scn9a	T	A	2: 66,379,359 (GRCm39)	M358L	probably damaging	Het
Sdk2	C	A	11: 113,733,516 (GRCm39)	E924*	probably null	Het
Sipa1l3	T	C	7: 29,048,012 (GRCm39)	Q1292R	possibly damaging	Het
Skint4	G	A	4: 111,975,298 (GRCm39)	G86D	probably damaging	Het
Slc28a3	C	T	13: 58,736,028 (GRCm39)	V57I	probably benign	Het
Slc9a4	T	C	1: 40,662,559 (GRCm39)	S609P	probably damaging	Het
Slc9a4	C	T	1: 40,619,799 (GRCm39)	P42S	probably benign	Het
Slitrk1	T	A	14: 109,150,061 (GRCm39)	T217S	probably benign	Het
Spindoc	C	T	19: 7,335,807 (GRCm39)	R327H	probably benign	Het
Stk36	T	C	1: 74,661,382 (GRCm39)	S470P	probably benign	Het
Sypl1	C	T	12: 33,024,254 (GRCm39)	P196L	probably benign	Het
Tekt4	T	A	17: 25,693,718 (GRCm39)	I285N	probably damaging	Het
Tgm5	T	A	2: 120,876,979 (GRCm39)	I686F	possibly damaging	Het
Thsd4	C	A	9: 59,883,587 (GRCm39)	R933L	probably damaging	Het
Treml1	T	A	17: 48,673,700 (GRCm39)	I237N	probably damaging	Het
Txndc16	T	C	14: 45,442,839 (GRCm39)	I119V	probably benign	Het
Ubr3	C	A	2: 69,728,166 (GRCm39)	N176K	probably damaging	Het
Vit	A	G	17: 78,932,426 (GRCm39)	Y511C	probably damaging	Het
Vwa5b2	G	A	16: 20,422,984 (GRCm39)	G994D	probably benign	Het
Wnk1	T	C	6: 119,925,268 (GRCm39)	T1648A	unknown	Het
Ythdf1	G	A	2: 180,553,315 (GRCm39)	T300I	probably damaging	Het
Zan	A	G	5: 137,452,462 (GRCm39)		probably null	Het
Zbbx	A	G	3: 75,019,401 (GRCm39)	L103P	probably benign	Het
Zfp105	A	G	9: 122,758,869 (GRCm39)	D180G	probably damaging	Het
Zfp114	T	A	7: 23,880,083 (GRCm39)	L144Q	possibly damaging	Het
Zfp128	T	C	7: 12,624,399 (GRCm39)	C256R	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
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
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'- GAGTAGCCATGGTCCAATCTATG -3'
(R):5'- AGTAGCTGGACGGTATCTGAC -3'

Sequencing Primer
(F):5'- AATACTTCCACAATCTACTACGCTG -3'
(R):5'- AGCTGGACGGTATCTGACTTTTC -3'

Posted On

2019-05-15