Mutagenetix > Incidental Mutation

Incidental Mutation 'R8502:Akap12'

655374

Institutional Source

Beutler Lab

Gene Symbol

Akap12

Ensembl Gene

ENSMUSG00000038587

Gene Name

A kinase anchor protein 12

Synonyms

Tsga12, Srcs5, SSeCKS

MMRRC Submission

067839-MU

Accession Numbers

Essential gene?

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

Stock #

R8502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4216380-4309470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 4263856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 88 (D88E)

Ref Sequence

ENSEMBL: ENSMUSP00000035829 (fasta)

Gene Model

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

AlphaFold

Q9WTQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000045730
AA Change: D88E

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: D88E

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	A	11: 9,219,282 (GRCm39)	D405E	probably benign	Het
Abca6	T	A	11: 110,110,145 (GRCm39)	L599F	probably damaging	Het
Accs	T	C	2: 93,668,460 (GRCm39)	Y337C	probably damaging	Het
Ahrr	A	T	13: 74,431,193 (GRCm39)	Y10N	probably damaging	Het
Akr1c18	G	A	13: 4,192,188 (GRCm39)	R170C	probably benign	Het
Cgnl1	A	G	9: 71,537,887 (GRCm39)	V1211A	probably damaging	Het
Crlf2	T	C	5: 109,704,917 (GRCm39)	D98G	probably benign	Het
Cyp2c66	T	A	19: 39,130,773 (GRCm39)	M129K	probably benign	Het
Dennd4b	T	C	3: 90,181,165 (GRCm39)	W774R	probably damaging	Het
Dhx9	T	C	1: 153,335,210 (GRCm39)	M932V	probably benign	Het
Dnah7a	A	G	1: 53,679,520 (GRCm39)	S322P	probably benign	Het
Dst	A	G	1: 34,206,373 (GRCm39)	D907G	probably damaging	Het
Hrh1	A	G	6: 114,457,966 (GRCm39)	K416E	probably damaging	Het
Ints6	G	C	14: 62,998,028 (GRCm39)	T27R	possibly damaging	Het
Krt10	C	T	11: 99,278,359 (GRCm39)	E267K	probably damaging	Het
Lama5	T	C	2: 179,837,015 (GRCm39)	N1074S	probably damaging	Het
Lrp2	C	T	2: 69,344,585 (GRCm39)	W844*	probably null	Het
N4bp2l2	T	G	5: 150,585,821 (GRCm39)	N53T	probably benign	Het
Naip6	C	T	13: 100,436,784 (GRCm39)	A580T	possibly damaging	Het
Nap1l1	T	A	10: 111,317,162 (GRCm39)	M1K	probably null	Het
Nbeal2	C	T	9: 110,463,457 (GRCm39)	S1258N	possibly damaging	Het
Or52a5	T	C	7: 103,426,968 (GRCm39)	I195V	probably benign	Het
Osgin2	A	T	4: 16,005,493 (GRCm39)	V131D	probably damaging	Het
Pced1a	T	C	2: 130,265,577 (GRCm39)		probably benign	Het
Phf8-ps	C	A	17: 33,286,038 (GRCm39)	A255S	probably benign	Het
Prdm2	T	C	4: 142,861,584 (GRCm39)	I569V	probably damaging	Het
Prss42	T	C	9: 110,629,984 (GRCm39)	L246P	probably damaging	Het
Ptpra	C	A	2: 130,391,679 (GRCm39)	D732E	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,121 (GRCm39)		probably benign	Het
Rspo3	T	C	10: 29,375,970 (GRCm39)	T198A	probably benign	Het
Slc45a2	T	C	15: 11,027,958 (GRCm39)	I509T	possibly damaging	Het
Spag7	T	C	11: 70,560,059 (GRCm39)	S17G	probably benign	Het
Tcl1b2	T	A	12: 105,113,367 (GRCm39)	Y7N	probably benign	Het
Tmem198	G	T	1: 75,459,353 (GRCm39)	G103W	probably damaging	Het
Trim62	A	G	4: 128,803,233 (GRCm39)	I428V	probably benign	Het
Usp7	A	T	16: 8,512,893 (GRCm39)		probably null	Het
Zan	T	A	5: 137,471,845 (GRCm39)	T191S	probably damaging	Het
Zfat	T	C	15: 67,976,916 (GRCm39)	T1078A	probably benign	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
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
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'- TAGTTTATACACCGGAAGTCAAGGC -3'
(R):5'- AACATCTCCTGAGACCAGCTG -3'

Sequencing Primer
(F):5'- CCGGAAGTCAAGGCATTACTTTTAAC -3'
(R):5'- TGAGACCAGCTGACTGTATCG -3'

Posted On

2020-10-20