Mutagenetix > Incidental Mutation

Incidental Mutation 'R5091:Akap8'

387778

Institutional Source

Beutler Lab

Gene Symbol

Akap8

Ensembl Gene

ENSMUSG00000024045

Gene Name

A kinase anchor protein 8

Synonyms

AKAP95, 1200016A02Rik

MMRRC Submission

042680-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5091 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32522646-32540212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32535208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 269 (T269A)

Ref Sequence

ENSEMBL: ENSMUSP00000002699 (fasta)

Gene Model

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

AlphaFold

Q9DBR0

Predicted Effect

probably benign
Transcript: ENSMUST00000002699
AA Change: T269A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
AA Change: T269A

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

Meta Mutation Damage Score

0.0588

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

96% (67/70)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833439L19Rik	A	G	13: 54,701,057 (GRCm39)	S174P	probably damaging	Het
4931414P19Rik	T	C	14: 54,823,168 (GRCm39)	E343G	probably damaging	Het
Abca14	T	C	7: 119,851,497 (GRCm39)	V825A	probably damaging	Het
Abca8b	G	T	11: 109,827,210 (GRCm39)	T1466K	possibly damaging	Het
Adcy8	A	G	15: 64,678,553 (GRCm39)	S467P	probably damaging	Het
Agbl4	T	C	4: 110,976,237 (GRCm39)	V198A	possibly damaging	Het
Agpat4	A	G	17: 12,417,699 (GRCm39)	K80R	probably benign	Het
Ankhd1	A	T	18: 36,758,080 (GRCm39)	I925F	possibly damaging	Het
Aste1	A	G	9: 105,282,203 (GRCm39)	Y57C	probably damaging	Het
Axdnd1	A	G	1: 156,247,980 (GRCm39)	S7P	possibly damaging	Het
BC051019	T	A	7: 109,319,789 (GRCm39)	R91S	probably null	Het
Cavin2	C	A	1: 51,340,398 (GRCm39)	N358K	probably benign	Het
Cd2	T	C	3: 101,190,355 (GRCm39)	N196S	probably benign	Het
Clca3a1	C	T	3: 144,436,483 (GRCm39)	V867I	probably benign	Het
Col6a4	T	A	9: 105,952,262 (GRCm39)	K545N	probably damaging	Het
Cps1	T	A	1: 67,268,679 (GRCm39)		probably null	Het
Cyp2c65	A	T	19: 39,076,009 (GRCm39)		probably null	Het
Dcaf6	T	C	1: 165,157,572 (GRCm39)	D856G	possibly damaging	Het
Epcam	T	C	17: 87,949,580 (GRCm39)	I181T	probably damaging	Het
Esrp2	A	G	8: 106,859,061 (GRCm39)	S562P	probably damaging	Het
Fcgbpl1	A	C	7: 27,856,383 (GRCm39)	I2057L	probably benign	Het
Ffar4	A	G	19: 38,085,627 (GRCm39)	D18G	probably benign	Het
Gen1	C	T	12: 11,296,347 (GRCm39)	V337I	probably damaging	Het
Gimap8	C	T	6: 48,633,581 (GRCm39)	P467S	possibly damaging	Het
Gnl3	T	A	14: 30,738,803 (GRCm39)	H82L	possibly damaging	Het
Grid2	T	C	6: 64,053,862 (GRCm39)	S354P	probably benign	Het
Ighmbp2	T	A	19: 3,315,084 (GRCm39)	T779S	possibly damaging	Het
Ints15	C	T	5: 143,293,443 (GRCm39)	E345K	possibly damaging	Het
Kif19a	C	A	11: 114,673,923 (GRCm39)	T348N	probably damaging	Het
Lrrc15	T	A	16: 30,092,172 (GRCm39)	N389I	probably damaging	Het
Mrps26	A	G	2: 130,405,886 (GRCm39)	Y63C	probably damaging	Het
Myd88	C	A	9: 119,166,889 (GRCm39)	V223F	possibly damaging	Het
Nox4	T	A	7: 87,025,450 (GRCm39)	W526R	probably damaging	Het
Nrg2	A	T	18: 36,185,838 (GRCm39)	N300K	probably damaging	Het
Nsmf	T	C	2: 24,950,464 (GRCm39)		probably benign	Het
Patl2	A	C	2: 121,954,283 (GRCm39)	H429Q	probably benign	Het
Pcdhb12	A	T	18: 37,568,907 (GRCm39)	K18*	probably null	Het
Peg10	T	A	6: 4,754,511 (GRCm39)	D97E	probably benign	Het
Runx1t1	C	T	4: 13,846,830 (GRCm39)	Q205*	probably null	Het
Selenon	T	C	4: 134,275,284 (GRCm39)	K138R	probably damaging	Het
Slc13a3	T	C	2: 165,262,000 (GRCm39)	E369G	probably benign	Het
Sorcs1	A	G	19: 50,248,190 (GRCm39)		probably null	Het
Sptbn4	A	T	7: 27,068,816 (GRCm39)	M499K	probably damaging	Het
Sra1	A	T	18: 36,803,012 (GRCm39)		probably benign	Het
Stra6	T	C	9: 58,048,429 (GRCm39)	L174P	probably damaging	Het
Syngr1	T	C	15: 80,000,086 (GRCm39)	Y66H	probably damaging	Het
Synpo	G	T	18: 60,735,831 (GRCm39)	S466*	probably null	Het
Tenm3	T	A	8: 48,795,343 (GRCm39)	M595L	probably benign	Het
Tnks	T	C	8: 35,308,963 (GRCm39)	T1099A	probably benign	Het
Tram1l1	G	T	3: 124,115,400 (GRCm39)	V187F	possibly damaging	Het
Trappc11	T	C	8: 47,965,639 (GRCm39)	E529G	probably benign	Het
Usp17la	T	C	7: 104,510,139 (GRCm39)	V248A	probably damaging	Het
Virma	T	C	4: 11,519,392 (GRCm39)	Y880H	probably benign	Het
Vmn1r214	C	T	13: 23,219,571 (GRCm39)	T355I	possibly damaging	Het
Vmn2r7	T	C	3: 64,598,205 (GRCm39)	K784R	possibly damaging	Het
Wrap53	C	T	11: 69,453,273 (GRCm39)	W389*	probably null	Het
Zfp748	A	G	13: 67,689,638 (GRCm39)	S541P	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
R5761:Akap8	UTSW	17	32,536,159 (GRCm39)	missense	possibly damaging	0.56
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'- CACATCTAAAGCAAGTGGTGTAAAC -3'
(R):5'- TTCCAAGACCGGAGCAACTC -3'

Sequencing Primer
(F):5'- CGTACTAAAAGTAAACTGGACACTG -3'
(R):5'- GCACCTTCATACGTAGTGACC -3'

Posted On

2016-06-06