Mutagenetix > Incidental Mutation

Incidental Mutation 'R5761:Akap8'

445331

Institutional Source

Beutler Lab

Gene Symbol

Akap8

Ensembl Gene

ENSMUSG00000024045

Gene Name

A kinase anchor protein 8

Synonyms

AKAP95, 1200016A02Rik

MMRRC Submission

043363-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5761 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32522646-32540212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 32536159 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 85 (C85S)

Ref Sequence

ENSEMBL: ENSMUSP00000002699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002699] [ENSMUST00000050214]

AlphaFold

Q9DBR0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002699
AA Change: C85S

PolyPhen 2 Score 0.558 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
AA Change: C85S

Domain	Start	End	E-Value	Type
SCOP:d1a0tp_	12	108	3e-19	SMART
low complexity region	183	198	N/A	INTRINSIC
low complexity region	257	270	N/A	INTRINSIC
low complexity region	354	384	N/A	INTRINSIC
ZnF_C2H2	387	411	9.46e0	SMART
Blast:ZnF_C2H2	476	501	9e-9	BLAST
low complexity region	551	582	N/A	INTRINSIC
low complexity region	642	651	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000050214

SMART Domains

Protein: ENSMUSP00000051389
Gene: ENSMUSG00000002625

Domain	Start	End	E-Value	Type
low complexity region	37	62	N/A	INTRINSIC
low complexity region	78	93	N/A	INTRINSIC
low complexity region	112	120	N/A	INTRINSIC
low complexity region	236	257	N/A	INTRINSIC
low complexity region	296	306	N/A	INTRINSIC
low complexity region	307	324	N/A	INTRINSIC
low complexity region	330	350	N/A	INTRINSIC
coiled coil region	356	383	N/A	INTRINSIC
ZnF_C2H2	389	413	1.05e1	SMART
SCOP:d1jvr__	538	613	7e-5	SMART
low complexity region	628	640	N/A	INTRINSIC

Meta Mutation Damage Score

0.0891

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

MGI Phenotype

FUNCTION: This gene encodes a member of the A-kinase anchoring protein (AKAP) family. These proteins are characterized by their ability to bind to the R subunit of protein kinase A (PKA) and anchor the protein at different subcellular locations. This protein has been shown to regulate apoptosis and to be involved in palatogenesis. Knockdown of this gene has been associated with altered histone modifications and reduced expression of developmental genes in mouse embryonic stem cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]
PHENOTYPE: Mice homozygous for a gene trap insertion are viable and overtly normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,100,927 (GRCm39)	V953D	probably damaging	Het
Abcb8	T	C	5: 24,610,879 (GRCm39)		probably benign	Het
Acad12	A	T	5: 121,742,243 (GRCm39)		probably benign	Het
Adam2	A	T	14: 66,283,595 (GRCm39)	C436S	probably damaging	Het
Aebp2	T	C	6: 140,569,943 (GRCm39)		probably benign	Het
Aldh1a3	C	A	7: 66,068,927 (GRCm39)	R19L	probably damaging	Het
Baz2a	A	G	10: 127,955,559 (GRCm39)	T848A	possibly damaging	Het
Bud13	C	T	9: 46,199,350 (GRCm39)	A237V	probably benign	Het
Cbarp	CGCCTCTGCTGCCTCT	CGCCTCT	10: 79,968,067 (GRCm39)		probably benign	Het
Ccdc187	G	A	2: 26,166,104 (GRCm39)	P775L	possibly damaging	Het
Ccz1	C	T	5: 143,929,328 (GRCm39)	G367R	probably damaging	Het
Cep104	T	C	4: 154,065,681 (GRCm39)	V56A	possibly damaging	Het
Chd6	C	A	2: 160,798,998 (GRCm39)	R2362S	probably damaging	Het
Chd6	C	T	2: 160,798,999 (GRCm39)	R2362K	probably damaging	Het
Cmc1	T	C	9: 117,944,443 (GRCm39)	E25G	probably benign	Het
Cntnap5b	T	C	1: 100,374,619 (GRCm39)	S1123P	probably damaging	Het
Col4a3	T	A	1: 82,693,778 (GRCm39)	L66*	probably null	Het
Crmp1	A	G	5: 37,440,212 (GRCm39)	T329A	probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Cyp3a16	A	G	5: 145,378,843 (GRCm39)	S393P	possibly damaging	Het
Cyp4f18	T	A	8: 72,749,975 (GRCm39)	I225F	probably damaging	Het
Ddhd2	A	G	8: 26,231,726 (GRCm39)	V432A	probably benign	Het
Ecpas	T	C	4: 58,853,131 (GRCm39)	I401M	probably damaging	Het
Foxq1	G	A	13: 31,743,314 (GRCm39)	A139T	probably damaging	Het
Gm10428	G	T	11: 62,644,169 (GRCm39)		probably benign	Het
Gpr89	A	G	3: 96,800,196 (GRCm39)	L134P	probably damaging	Het
Hjv	T	C	3: 96,435,938 (GRCm39)	S399P	probably benign	Het
Hrc	A	T	7: 44,986,025 (GRCm39)		probably null	Het
Igf1r	T	A	7: 67,857,001 (GRCm39)	Y988N	probably damaging	Het
Igf2r	A	C	17: 12,917,239 (GRCm39)		probably null	Het
Itga2b	A	G	11: 102,357,100 (GRCm39)	F260S	probably benign	Het
Kif2a	T	A	13: 107,098,672 (GRCm39)	N698I	probably benign	Het
Lap3	A	C	5: 45,662,147 (GRCm39)	I316L	probably benign	Het
Map2k6	T	G	11: 110,290,197 (GRCm39)		probably benign	Het
Mtrex	T	A	13: 113,054,196 (GRCm39)	I146F	probably damaging	Het
Myh1	A	G	11: 67,110,078 (GRCm39)	E1422G	probably damaging	Het
Ncoa6	A	G	2: 155,250,061 (GRCm39)	V1081A	probably benign	Het
Nom1	A	G	5: 29,642,639 (GRCm39)	E380G	probably damaging	Het
Nwd2	A	T	5: 63,882,573 (GRCm39)	Y75F	probably damaging	Het
Or3a1b	T	A	11: 74,012,335 (GRCm39)	D73E	probably damaging	Het
Or51a24	G	A	7: 103,733,376 (GRCm39)	R304W	probably benign	Het
Pkd1l1	A	G	11: 8,866,301 (GRCm39)	V518A	probably damaging	Het
Ptgs2	A	G	1: 149,981,279 (GRCm39)	M521V	probably benign	Het
Qsox1	T	A	1: 155,655,274 (GRCm39)	M630L	probably benign	Het
Spty2d1	A	G	7: 46,648,032 (GRCm39)	L299P	probably damaging	Het
St6gal1	T	G	16: 23,139,805 (GRCm39)		probably benign	Het
Sult2a6	T	C	7: 13,984,283 (GRCm39)	Y149C	probably damaging	Het
Tlr3	G	A	8: 45,855,808 (GRCm39)	T124M	probably benign	Het
Tmem171	A	G	13: 98,829,019 (GRCm39)	Y44H	probably damaging	Het
Usp35	C	T	7: 96,961,558 (GRCm39)	V623I	probably benign	Het
Vangl2	T	A	1: 171,833,694 (GRCm39)	H463L	probably damaging	Het
Vmn1r175	A	C	7: 23,507,905 (GRCm39)	L241V	probably benign	Het
Vmn1r19	A	T	6: 57,382,338 (GRCm39)	K297I	unknown	Het
Vmn2r23	C	A	6: 123,689,718 (GRCm39)	T198K	probably benign	Het
Vmn2r-ps69	T	A	7: 84,953,223 (GRCm39)		noncoding transcript	Het
Xirp2	A	G	2: 67,341,311 (GRCm39)	Y1184C	probably benign	Het
Ythdc1	A	G	5: 86,983,810 (GRCm39)		probably benign	Het
Zbtb39	C	T	10: 127,578,515 (GRCm39)	A363V	probably damaging	Het
Zmiz1	T	A	14: 25,651,728 (GRCm39)	I527K	possibly damaging	Het
Zmiz1	C	A	14: 25,651,730 (GRCm39)	P534T	probably damaging	Het

Other mutations in Akap8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Akap8	APN	17	32,536,254 (GRCm39)	missense	probably damaging	1.00
IGL01450:Akap8	APN	17	32,534,661 (GRCm39)	missense	probably damaging	1.00
IGL02002:Akap8	APN	17	32,528,470 (GRCm39)	missense	probably damaging	1.00
IGL02223:Akap8	APN	17	32,535,621 (GRCm39)	missense	probably damaging	1.00
IGL02315:Akap8	APN	17	32,524,475 (GRCm39)	missense	probably benign	0.01
IGL03404:Akap8	APN	17	32,531,250 (GRCm39)	splice site	probably benign
BB006:Akap8	UTSW	17	32,528,419 (GRCm39)	missense	probably damaging	1.00
BB016:Akap8	UTSW	17	32,528,419 (GRCm39)	missense	probably damaging	1.00
R0310:Akap8	UTSW	17	32,535,234 (GRCm39)	missense	possibly damaging	0.81
R0526:Akap8	UTSW	17	32,536,266 (GRCm39)	missense	probably benign	0.28
R1795:Akap8	UTSW	17	32,534,451 (GRCm39)	missense	probably damaging	1.00
R1992:Akap8	UTSW	17	32,535,586 (GRCm39)	missense	probably damaging	0.99
R2571:Akap8	UTSW	17	32,534,429 (GRCm39)	missense	probably damaging	1.00
R2918:Akap8	UTSW	17	32,524,622 (GRCm39)	missense	probably benign	0.01
R3423:Akap8	UTSW	17	32,535,429 (GRCm39)	missense	possibly damaging	0.61
R3870:Akap8	UTSW	17	32,536,813 (GRCm39)	unclassified	probably benign
R4077:Akap8	UTSW	17	32,531,272 (GRCm39)	missense	probably damaging	1.00
R4078:Akap8	UTSW	17	32,531,272 (GRCm39)	missense	probably damaging	1.00
R4379:Akap8	UTSW	17	32,525,534 (GRCm39)	missense	probably damaging	0.99
R4756:Akap8	UTSW	17	32,535,184 (GRCm39)	missense	probably damaging	0.98
R4819:Akap8	UTSW	17	32,531,279 (GRCm39)	missense	probably damaging	1.00
R5091:Akap8	UTSW	17	32,535,208 (GRCm39)	missense	probably benign	0.05
R6896:Akap8	UTSW	17	32,536,305 (GRCm39)	missense	probably benign	0.00
R7138:Akap8	UTSW	17	32,535,515 (GRCm39)	missense	possibly damaging	0.86
R7350:Akap8	UTSW	17	32,535,549 (GRCm39)	missense	possibly damaging	0.92
R7929:Akap8	UTSW	17	32,528,419 (GRCm39)	missense	probably damaging	1.00
R8693:Akap8	UTSW	17	32,529,625 (GRCm39)	missense	probably damaging	1.00
R8810:Akap8	UTSW	17	32,525,504 (GRCm39)	missense	probably damaging	1.00
R9521:Akap8	UTSW	17	32,530,036 (GRCm39)	missense	possibly damaging	0.89
X0020:Akap8	UTSW	17	32,534,724 (GRCm39)	missense	probably benign	0.08
Z1176:Akap8	UTSW	17	32,525,523 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCTTTCTAAAAGAGCTGGTACC -3'
(R):5'- CATGTGCTCAGGCCTAACATG -3'

Sequencing Primer
(F):5'- TTTCTAAAAGAGCTGGTACCCACTC -3'
(R):5'- GCTCAGGCCTAACATGGTTCTTC -3'

Posted On

2016-11-21