Mutagenetix > Incidental Mutation

Incidental Mutation 'R7350:Akap8'

570539

Institutional Source

Beutler Lab

Gene Symbol

Akap8

Ensembl Gene

ENSMUSG00000024045

Gene Name

A kinase (PRKA) anchor protein 8

Synonyms

1200016A02Rik, AKAP95

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7350 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32303676-32321153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32316575 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 155 (D155G)

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: D155G

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
AA Change: D155G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930017K11Rik	A	T	17: 25,946,711	V534D	probably damaging	Het
Abraxas2	T	C	7: 132,874,849	F106S	probably damaging	Het
Acsf3	A	G	8: 122,785,946	T369A	probably benign	Het
Adgrf5	G	A	17: 43,428,444		probably null	Het
Aff1	T	A	5: 103,847,092	I1052K	probably benign	Het
Alg10b	A	T	15: 90,227,450	M166L	probably benign	Het
Allc	T	A	12: 28,563,409	Q178L	possibly damaging	Het
Angptl4	C	A	17: 33,777,110	L297F	probably damaging	Het
Arfgap1	A	G	2: 180,971,076	K8E	possibly damaging	Het
Bckdhb	T	A	9: 84,010,326	V270E	possibly damaging	Het
Cbx3	T	C	6: 51,475,375		probably null	Het
Cd44	G	T	2: 102,834,262	N531K	probably benign	Het
Cdh23	A	T	10: 60,410,910	D916E	probably damaging	Het
Cr2	A	G	1: 195,155,286	V792A	probably benign	Het
Cstf3	T	C	2: 104,608,956	L38P	probably damaging	Het
Cyp2a5	A	G	7: 26,836,783	E151G	probably benign	Het
Dbr1	T	C	9: 99,582,549	F127S		Het
Ddit4	A	T	10: 59,951,495	D6E	probably damaging	Het
Disc1	G	C	8: 125,165,102	R631S	probably damaging	Het
Dnah5	T	A	15: 28,235,819		probably null	Het
Dnah9	T	C	11: 66,080,578	K1595E	probably damaging	Het
Dnmbp	T	C	19: 43,901,505	R608G	probably damaging	Het
Efcab5	G	C	11: 77,137,561	P315A	probably benign	Het
Eif4a2	A	G	16: 23,113,262	Y392C	possibly damaging	Het
F5	G	T	1: 164,192,708	K917N	probably benign	Het
Fig4	T	C	10: 41,251,756	M571V	probably benign	Het
Flot2	T	A	11: 78,057,976	I259N	probably damaging	Het
Gm8122	C	A	14: 43,230,601		probably null	Het
Gpr152	T	C	19: 4,142,964	V168A	possibly damaging	Het
H1f0	G	A	15: 79,028,903	G61D	probably damaging	Het
Ihh	T	A	1: 74,948,333	K183M	probably damaging	Het
Itga2	A	G	13: 114,837,202	L1116P	probably damaging	Het
Kcnj10	A	G	1: 172,369,260	T114A	possibly damaging	Het
Kcnk3	T	G	5: 30,621,966	L120R	probably damaging	Het
Krt14	C	A	11: 100,205,100	E211*	probably null	Het
Lars2	T	C	9: 123,427,480	L350P	probably damaging	Het
Lrba	T	C	3: 86,351,902	I1408T	probably damaging	Het
Lrrc27	A	G	7: 139,226,106	E229G	probably benign	Het
Lrrc8e	G	T	8: 4,235,626	R617L	probably benign	Het
M1ap	A	G	6: 82,981,949	D187G	probably benign	Het
March1	A	T	8: 66,468,399	K243*	probably null	Het
Med16	C	T	10: 79,903,197	V252M	probably damaging	Het
Micu3	T	C	8: 40,348,958	S189P	probably benign	Het
Mier2	C	A	10: 79,540,298	M264I	unknown	Het
Mindy4	A	T	6: 55,301,025	N618I	probably damaging	Het
Mmrn1	C	T	6: 60,976,336	Q534*	probably null	Het
Mroh9	C	T	1: 163,076,289		probably null	Het
Ms4a6d	G	A	19: 11,590,073	Q155*	probably null	Het
Mta3	T	A	17: 83,708,441	I24N	probably damaging	Het
Mtmr4	A	T	11: 87,600,650	H147L	probably damaging	Het
Nfam1	T	C	15: 83,010,439	K155R	probably benign	Het
Nlrp6	A	T	7: 140,921,278		probably benign	Het
Olfr1006	A	G	2: 85,674,845	F102S		Het
Olfr1153	T	C	2: 87,896,409		probably benign	Het
Olfr1164	A	T	2: 88,093,198	F246Y	probably benign	Het
Olfr213	A	G	6: 116,540,534	E27G	probably benign	Het
Olfr357	T	A	2: 36,996,861	I17N	possibly damaging	Het
P4ha1	A	G	10: 59,350,418	R240G	probably damaging	Het
Pla2r1	G	T	2: 60,458,379	D636E	probably benign	Het
Polr2a	A	G	11: 69,741,060	L1060P	possibly damaging	Het
Ptgdr2	C	A	19: 10,940,955	Q279K	probably benign	Het
Rab11fip2	T	A	19: 59,937,421	R121S	probably benign	Het
Rasa2	T	C	9: 96,544,355	S813G	probably benign	Het
Rassf5	T	C	1: 131,178,536	K411E	possibly damaging	Het
Reep4	T	C	14: 70,546,547	Y35H	probably damaging	Het
Ror1	A	T	4: 100,425,943	M402L	probably benign	Het
Slc32a1	A	G	2: 158,614,406	E327G	probably damaging	Het
Spen	C	T	4: 141,479,385	E644K	unknown	Het
Tarsl2	C	G	7: 65,658,924	Q281E	probably damaging	Het
Tcl1	A	G	12: 105,218,675	I92T	probably damaging	Het
Tifab	A	G	13: 56,176,307	S108P	probably damaging	Het
Traf1	T	C	2: 34,948,233	N198D	probably benign	Het
Trim35	T	C	14: 66,309,205	Y474H	probably damaging	Het
Trim54	T	A	5: 31,137,161	D344E	probably benign	Het
Ttc28	A	T	5: 111,226,037	H1113L	probably damaging	Het
Vcam1	T	A	3: 116,114,562	D617V	probably damaging	Het
Vmn2r81	A	T	10: 79,268,385	T281S	probably benign	Het
Whrn	C	T	4: 63,431,959	R507K	possibly damaging	Het
Zdhhc14	A	G	17: 5,726,876	S303G	probably benign	Het
Zfp292	A	T	4: 34,806,839	N2073K	probably benign	Het
Zgpat	T	A	2: 181,380,435	V163D		Het

Other mutations in Akap8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00421:Akap8	APN	17	32317280	missense	probably damaging	1.00
IGL01450:Akap8	APN	17	32315687	missense	probably damaging	1.00
IGL02002:Akap8	APN	17	32309496	missense	probably damaging	1.00
IGL02223:Akap8	APN	17	32316647	missense	probably damaging	1.00
IGL02315:Akap8	APN	17	32305501	missense	probably benign	0.01
IGL03404:Akap8	APN	17	32312276	splice site	probably benign
BB006:Akap8	UTSW	17	32309445	missense	probably damaging	1.00
BB016:Akap8	UTSW	17	32309445	missense	probably damaging	1.00
R0310:Akap8	UTSW	17	32316260	missense	possibly damaging	0.81
R0526:Akap8	UTSW	17	32317292	missense	probably benign	0.28
R1795:Akap8	UTSW	17	32315477	missense	probably damaging	1.00
R1992:Akap8	UTSW	17	32316612	missense	probably damaging	0.99
R2571:Akap8	UTSW	17	32315455	missense	probably damaging	1.00
R2918:Akap8	UTSW	17	32305648	missense	probably benign	0.01
R3423:Akap8	UTSW	17	32316455	missense	possibly damaging	0.61
R3870:Akap8	UTSW	17	32317839	unclassified	probably benign
R4077:Akap8	UTSW	17	32312298	missense	probably damaging	1.00
R4078:Akap8	UTSW	17	32312298	missense	probably damaging	1.00
R4379:Akap8	UTSW	17	32306560	missense	probably damaging	0.99
R4756:Akap8	UTSW	17	32316210	missense	probably damaging	0.98
R4819:Akap8	UTSW	17	32312305	missense	probably damaging	1.00
R5091:Akap8	UTSW	17	32316234	missense	probably benign	0.05
R5761:Akap8	UTSW	17	32317185	missense	possibly damaging	0.56
R6896:Akap8	UTSW	17	32317331	missense	probably benign	0.00
R7138:Akap8	UTSW	17	32316541	missense	possibly damaging	0.86
R7929:Akap8	UTSW	17	32309445	missense	probably damaging	1.00
R8693:Akap8	UTSW	17	32310651	missense	probably damaging	1.00
R8810:Akap8	UTSW	17	32306530	missense	probably damaging	1.00
R9521:Akap8	UTSW	17	32311062	missense	possibly damaging	0.89
X0020:Akap8	UTSW	17	32315750	missense	probably benign	0.08
Z1176:Akap8	UTSW	17	32306549	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCATGAAAGGGTCACTACG -3'
(R):5'- GCATTTAGGTAGATACTGACTGGG -3'

Sequencing Primer
(F):5'- GGTCACTACGTATGAAGGTGC -3'
(R):5'- GGTCCAACTTAGTGTAAAGTTAGGC -3'

Posted On

2019-09-13