Mutagenetix > Incidental Mutation

Incidental Mutation 'R1795:Akap8'

202189

Institutional Source

Beutler Lab

Gene Symbol

Akap8

Ensembl Gene

ENSMUSG00000024045

Gene Name

A kinase (PRKA) anchor protein 8

Synonyms

1200016A02Rik, AKAP95

MMRRC Submission

039825-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1795 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32303676-32321153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32315477 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 332 (G332C)

Ref Sequence

ENSEMBL: ENSMUSP00000002699 (fasta)

Gene Model

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

AlphaFold

Q9DBR0

Predicted Effect

probably damaging
Transcript: ENSMUST00000002699
AA Change: G332C

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

SMART Domains

Protein: ENSMUSP00000002699
Gene: ENSMUSG00000024045
AA Change: G332C

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.6%

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	C	A	1: 26,682,989	G1037*	probably null	Het
Abca8a	A	G	11: 110,050,966	I1159T	probably benign	Het
Abcc1	T	C	16: 14,465,137	V1159A	possibly damaging	Het
Abcg5	A	G	17: 84,673,579	I194T	probably damaging	Het
Abtb2	A	G	2: 103,567,024	T100A	probably benign	Het
Adam4	C	T	12: 81,421,294	M184I	probably benign	Het
Afap1l2	T	C	19: 56,928,409	D155G	probably damaging	Het
Ahnak	T	C	19: 9,002,438	V362A	possibly damaging	Het
Ak7	C	T	12: 105,726,223	R179*	probably null	Het
Akr1e1	T	A	13: 4,595,072	Q204L	probably damaging	Het
Ankrd12	T	C	17: 65,986,227	E737G	possibly damaging	Het
Atrn	A	G	2: 130,972,288	D718G	probably benign	Het
Bco2	A	G	9: 50,541,169	S200P	possibly damaging	Het
C030005K15Rik	A	T	10: 97,725,786	S28T	unknown	Het
Cdc14a	T	A	3: 116,298,473	Q356L	possibly damaging	Het
Cdk5rap3	A	G	11: 96,908,828	L387P	probably damaging	Het
Celsr1	A	T	15: 86,030,323	S1150T	probably damaging	Het
Cntfr	A	G	4: 41,670,841		probably null	Het
Cramp1l	T	C	17: 24,964,910	N1244D	probably damaging	Het
Csmd3	G	T	15: 47,857,920	D1542E	possibly damaging	Het
Cyp4f17	A	T	17: 32,517,969	I92F	probably benign	Het
Dhx30	A	T	9: 110,107,983		probably null	Het
Dlg1	T	A	16: 31,743,147	H120Q	probably benign	Het
Dmgdh	A	T	13: 93,706,699	M348L	probably benign	Het
Dnmt3b	G	A	2: 153,683,639	E741K	possibly damaging	Het
Dock3	T	G	9: 107,025,335	H292P	probably damaging	Het
Elmsan1	A	G	12: 84,158,974		probably null	Het
Ercc6	T	A	14: 32,517,028	N24K	probably benign	Het
Esco2	T	C	14: 65,827,277	Q338R	probably benign	Het
Etl4	T	C	2: 20,808,026		probably null	Het
Exoc7	A	T	11: 116,292,521	I498N	probably damaging	Het
Fap	G	A	2: 62,548,589	S123L	probably damaging	Het
Foxn1	T	C	11: 78,371,225	E106G	probably benign	Het
Fscb	T	A	12: 64,474,401	D97V	probably damaging	Het
Gabrg1	T	C	5: 70,782,253	T174A	possibly damaging	Het
Gan	C	T	8: 117,196,460	A461V	possibly damaging	Het
Gbp2	T	A	3: 142,630,523	D211E	possibly damaging	Het
Gm10271	A	T	10: 116,956,841	Y47N	unknown	Het
Gm17333	G	T	16: 77,852,823		noncoding transcript	Het
Gm1758	T	A	16: 14,502,278		noncoding transcript	Het
Golga3	A	G	5: 110,207,627	K989R	possibly damaging	Het
Gucy2g	C	A	19: 55,199,541	V1041F	probably damaging	Het
Guk1	A	T	11: 59,186,813	F25I	probably benign	Het
H2al1o	C	T	X: 9,572,090	E87K	possibly damaging	Het
Hemgn	C	A	4: 46,395,958	C426F	probably damaging	Het
Hps3	A	G	3: 20,012,695		probably null	Het
Il2rb	A	T	15: 78,483,987	D287E	probably damaging	Het
Ino80	A	T	2: 119,406,859	V1123D	probably damaging	Het
Kdm2b	A	G	5: 122,984,460		probably null	Het
Kif21a	A	T	15: 90,972,727		probably null	Het
Klhl33	A	T	14: 50,892,126	N347K	probably damaging	Het
Krt2	A	G	15: 101,816,426	F250L	possibly damaging	Het
Krt82	T	A	15: 101,543,384	N332I	possibly damaging	Het
Lgi1	A	G	19: 38,306,183	I444V	probably benign	Het
Lmod1	G	A	1: 135,325,124	V39M	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Mex3d	T	C	10: 80,381,542	T149A	probably benign	Het
Mlxipl	A	C	5: 135,107,170	D83A	probably damaging	Het
Mroh8	T	A	2: 157,269,551	E161V	probably benign	Het
Mroh9	G	A	1: 163,056,778	T397I	probably damaging	Het
Mtss1	T	C	15: 59,058,400	D32G	possibly damaging	Het
Mus81	T	C	19: 5,483,476	D495G	probably benign	Het
Neurod1	A	C	2: 79,454,329	S237A	probably benign	Het
Npas1	G	A	7: 16,474,800	R51C	probably damaging	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
P2ry14	T	C	3: 59,115,853	N62S	probably damaging	Het
Pcdh15	A	G	10: 74,624,255	Y1308C	probably damaging	Het
Pcdhb14	A	T	18: 37,449,535	M565L	probably benign	Het
Pde6a	A	G	18: 61,257,212	E502G	probably damaging	Het
Pde8b	A	G	13: 95,042,019	V566A	probably benign	Het
Phf11b	G	T	14: 59,328,105	Q108K	probably benign	Het
Pikfyve	T	C	1: 65,252,557	Y1312H	probably damaging	Het
Plcb3	T	C	19: 6,956,013		probably benign	Het
Plxna2	G	A	1: 194,806,303	G1629D	probably damaging	Het
Plxnb1	T	C	9: 109,100,745	V223A	probably benign	Het
Prkca	A	T	11: 108,012,692	Y285N	possibly damaging	Het
Prl2a1	A	T	13: 27,808,571	N226I	probably damaging	Het
Pus7	A	C	5: 23,741,916	M636R	probably damaging	Het
Samd9l	G	A	6: 3,375,264	Q666*	probably null	Het
Sema3d	A	G	5: 12,584,887	D640G	probably benign	Het
Slc6a15	A	G	10: 103,400,260	I279V	probably benign	Het
Slk	T	C	19: 47,620,534	V642A	possibly damaging	Het
Spta1	T	A	1: 174,245,730	M2305K	probably damaging	Het
Srrt	T	C	5: 137,303,012		probably benign	Het
Stfa2l1	A	T	16: 36,156,858	I8L	probably benign	Het
Tap1	T	C	17: 34,194,925	L638P	probably benign	Het
Tbccd1	A	T	16: 22,822,245	L461M	probably benign	Het
Tecta	T	C	9: 42,378,049	T407A	probably benign	Het
Tmbim7	T	C	5: 3,657,493		probably null	Het
Tnrc18	C	A	5: 142,815,114	V30L	probably benign	Het
Tomm7	A	G	5: 23,844,027	F16S	probably damaging	Het
Ugt2a2	A	G	5: 87,474,456	S428P	probably benign	Het
Vmn1r189	T	C	13: 22,102,154	E171G	probably benign	Het
Vmn1r61	T	C	7: 5,611,325		probably benign	Het
Vmn2r120	A	T	17: 57,525,038	S250R	probably benign	Het
Vmn2r8	T	C	5: 108,803,106	R158G	probably benign	Het
Vmn2r98	A	T	17: 19,066,440	Y400F	probably damaging	Het
Vps13c	C	A	9: 67,893,985	Y582*	probably null	Het
Zfp518a	T	A	19: 40,915,556	F1310I	probably benign	Het
Zswim1	A	G	2: 164,825,400	I191V	probably benign	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
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
R7350:Akap8	UTSW	17	32316575	missense	possibly damaging	0.92
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'- TGCACACCAAAGGTATATGGTTC -3'
(R):5'- AGAACCTGATGCCAAACTGG -3'

Sequencing Primer
(F):5'- TGGTTCATTCAAGCCAAACAG -3'
(R):5'- AACGGTATGCTCTGGGATCAC -3'

Posted On

2014-06-23