Mutagenetix > Incidental Mutations

Incidental Mutation 'R6189:Akap2'

502365

Institutional Source

Beutler Lab

Gene Symbol

Akap2

Ensembl Gene

ENSMUSG00000038729

Gene Name

A kinase (PRKA) anchor protein 2

Synonyms

AKAP-KL, B230340M18Rik

MMRRC Submission

044329-MU

Accession Numbers

Genbank: NM_001035533; MGI: 1306795

Is this an essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R6189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

57717657-57896984 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57855928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 419 (E419G)

Ref Sequence

ENSEMBL: ENSMUSP00000103224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043456] [ENSMUST00000098064] [ENSMUST00000098066] [ENSMUST00000102902] [ENSMUST00000102903] [ENSMUST00000107598] [ENSMUST00000107600] [ENSMUST00000124581] [ENSMUST00000126465] [ENSMUST00000132497]

AlphaFold

O54931

Predicted Effect

probably benign
Transcript: ENSMUST00000043456
AA Change: E419G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: E419G

Domain	Start	End	E-Value	Type
low complexity region	152	163	N/A	INTRINSIC
low complexity region	213	227	N/A	INTRINSIC
coiled coil region	256	314	N/A	INTRINSIC
Pfam:AKAP2_C	568	885	2.5e-17	PFAM
Pfam:RII_binding_1	585	602	1.6e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098064
AA Change: E419G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: E419G

Domain	Start	End	E-Value	Type
low complexity region	152	163	N/A	INTRINSIC
low complexity region	213	227	N/A	INTRINSIC
coiled coil region	256	314	N/A	INTRINSIC
Pfam:AKAP2_C	569	872	4e-13	PFAM
Pfam:RII_binding_1	585	602	2.9e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000098065

Predicted Effect

probably benign
Transcript: ENSMUST00000098066

SMART Domains

Protein: ENSMUSP00000095674
Gene: ENSMUSG00000089945

Domain	Start	End	E-Value	Type
Pfam:Paralemmin	67	138	6.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102902
AA Change: E419G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: E419G

Domain	Start	End	E-Value	Type
low complexity region	152	163	N/A	INTRINSIC
low complexity region	213	227	N/A	INTRINSIC
coiled coil region	256	314	N/A	INTRINSIC
Pfam:RII_binding_1	585	602	3.5e-5	PFAM
coiled coil region	730	766	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102903
AA Change: E419G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: E419G

Domain	Start	End	E-Value	Type
low complexity region	152	163	N/A	INTRINSIC
low complexity region	213	227	N/A	INTRINSIC
coiled coil region	256	314	N/A	INTRINSIC
Pfam:RII_binding_1	585	602	3.5e-5	PFAM
coiled coil region	730	766	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107598
AA Change: E419G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: E419G

Domain	Start	End	E-Value	Type
low complexity region	152	163	N/A	INTRINSIC
low complexity region	213	227	N/A	INTRINSIC
coiled coil region	256	314	N/A	INTRINSIC
Pfam:AKAP2_C	569	872	4e-13	PFAM
Pfam:RII_binding_1	585	602	2.9e-5	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107600
AA Change: E460G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: E460G

Domain	Start	End	E-Value	Type
low complexity region	193	204	N/A	INTRINSIC
low complexity region	254	268	N/A	INTRINSIC
coiled coil region	297	355	N/A	INTRINSIC
Pfam:AKAP2_C	636	913	2.8e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124581

SMART Domains

Protein: ENSMUSP00000119742
Gene: ENSMUSG00000038729

Domain	Start	End	E-Value	Type
low complexity region	152	163	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126465

SMART Domains

Protein: ENSMUSP00000130230
Gene: ENSMUSG00000089945

Domain	Start	End	E-Value	Type
Pfam:Paralemmin	67	138	6.3e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132497

Predicted Effect

unknown
Transcript: ENSMUST00000150412
AA Change: E662G

SMART Domains

Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: E662G

Domain	Start	End	E-Value	Type
low complexity region	15	28	N/A	INTRINSIC
low complexity region	35	59	N/A	INTRINSIC
Pfam:Paralemmin	115	269	6.5e-23	PFAM
low complexity region	396	407	N/A	INTRINSIC
low complexity region	457	471	N/A	INTRINSIC
coiled coil region	499	557	N/A	INTRINSIC
Pfam:AKAP2_C	847	1129	1.9e-17	PFAM

Meta Mutation Damage Score

0.0749

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

97% (74/76)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to the regulatory subunit of protein kinase A and is found associated with the actin cytoskeleton. The encoded protein mediates signals carried by cAMP and may be involved in creating polarity in certain signaling processes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	G	17: 48,167,054		probably benign	Het
Abca8a	T	C	11: 110,030,884	D1448G	probably damaging	Het
Actn2	C	T	13: 12,276,440	D693N	probably damaging	Het
Adam3	A	C	8: 24,711,336	I267R	probably benign	Het
Aldh1l2	A	G	10: 83,508,013		probably null	Het
C4bp	T	C	1: 130,636,819	Y376C	probably damaging	Het
Cacna1h	A	G	17: 25,397,844	W101R	probably damaging	Het
Ccdc84	G	A	9: 44,410,321	R328C	probably benign	Het
Ccdc97	T	A	7: 25,716,098	T47S	probably benign	Het
Cnot6l	G	A	5: 96,098,277	T171I	probably benign	Het
Cntnap2	T	A	6: 47,271,298	S1213T	probably damaging	Het
Cxcl10	A	T	5: 92,348,113	L55Q	probably benign	Het
Cyp1a1	T	C	9: 57,700,683	V198A	probably damaging	Het
Dclre1b	A	G	3: 103,803,533	V354A	probably damaging	Het
Dmxl1	C	T	18: 49,893,335	H1837Y	probably benign	Het
Dnajc13	G	C	9: 104,213,886	D665E	probably benign	Het
Dnmbp	T	C	19: 43,890,309	T108A	probably benign	Het
Dnmbp	T	A	19: 43,901,511	T606S	probably benign	Het
Dok5	T	A	2: 170,800,851	I23N	probably damaging	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Epha5	A	T	5: 84,237,540	F311I	probably damaging	Het
Erbb4	T	A	1: 68,043,916	M1059L	probably benign	Het
Fbxo40	A	G	16: 36,966,164	I681T	probably benign	Het
Flg2	T	A	3: 93,220,074	C2098S	unknown	Het
Gm10471	A	G	5: 26,085,693	I160T	probably benign	Het
Gm11397	A	T	13: 33,404,444	E337D	probably benign	Het
Gpr87	T	A	3: 59,179,229	D285V	probably damaging	Het
Hrh1	T	A	6: 114,479,998	V80D	probably damaging	Het
Hunk	G	A	16: 90,487,881	R351K	probably benign	Het
Ifna12	A	G	4: 88,603,011	W100R	probably damaging	Het
Ift57	G	A	16: 49,763,813	G310S	probably damaging	Het
Igf1r	T	A	7: 68,207,336	Y1015*	probably null	Het
Igkv14-130	T	C	6: 67,791,448	I96T	probably damaging	Het
Il34	C	T	8: 110,742,718	S155N	probably benign	Het
Itga7	T	C	10: 128,950,403	S938P	possibly damaging	Het
Itgam	A	G	7: 128,112,504	M764V	probably benign	Het
Lao1	T	A	4: 118,967,880	M299K	probably benign	Het
Lnpep	A	T	17: 17,566,739	S533T	possibly damaging	Het
Lrp4	T	C	2: 91,475,234	V283A	possibly damaging	Het
Magi3	G	T	3: 104,050,865	H635N	probably damaging	Het
Mecr	A	T	4: 131,865,254		probably null	Het
Mgrn1	T	C	16: 4,910,810		probably null	Het
Micalcl	A	C	7: 112,412,880	N646H	probably damaging	Het
Mymk	C	T	2: 27,067,365	V39I	possibly damaging	Het
Nav3	T	C	10: 109,720,019	S1684G	probably damaging	Het
Ntn5	A	T	7: 45,693,220	D330V	probably benign	Het
Nupl2	G	T	5: 24,175,454	G149V	probably damaging	Het
Nutm2	T	A	13: 50,469,738	V157D	possibly damaging	Het
Obscn	T	C	11: 59,069,934	I3460V	probably benign	Het
Olfr1037	A	T	2: 86,084,913	M288K	possibly damaging	Het
Pcdh15	C	T	10: 74,342,651	A580V	probably null	Het
Pcdhb10	T	A	18: 37,412,403	H177Q	probably damaging	Het
Pitx2	T	C	3: 129,218,469	Y130H	probably damaging	Het
Pmch	G	T	10: 88,091,386		probably null	Het
Pofut2	T	A	10: 77,268,586	I399N	probably damaging	Het
Prr36	C	A	8: 4,214,177		probably benign	Het
Ptprq	C	A	10: 107,517,887	C2256F	probably damaging	Het
Rassf5	G	A	1: 131,244,979	A51V	probably damaging	Het
Retnla	A	G	16: 48,842,895	I54V	probably benign	Het
Rimbp2	A	G	5: 128,803,897	L142P	probably benign	Het
Ripk1	A	G	13: 34,032,501	T564A	probably benign	Het
Robo4	G	A	9: 37,403,533	E228K	probably benign	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,579,906		probably benign	Homo
Rusc1	A	T	3: 89,089,012	L132Q	probably damaging	Het
Setd1a	T	C	7: 127,778,283		probably null	Het
Slc38a6	A	T	12: 73,310,196	K122M	probably damaging	Het
Susd5	A	T	9: 114,095,658	D203V	probably damaging	Het
Trip4	G	A	9: 65,879,152	R110*	probably null	Het
Tuba4a	T	A	1: 75,216,874	I95F	probably benign	Het
Ube2q2	T	A	9: 55,162,983	S70T	probably benign	Het
Umodl1	A	G	17: 30,996,282	I1027V	possibly damaging	Het
Unc80	G	A	1: 66,677,471	V2917I	probably benign	Het
Vmn1r70	T	A	7: 10,633,671	C29S	probably benign	Het
Vmn2r94	A	T	17: 18,257,734	D138E	probably benign	Het
Wee2	C	T	6: 40,449,683	H129Y	probably damaging	Het
Zfp318	TGAAGAAGAAGAAGAAGAAGAAGAAGAAG	TGAAGAAGAAGAAGAAGAAGAAG	17: 46,412,514		probably benign	Het
Zfp872	A	T	9: 22,197,131	D42V	probably benign	Het
Zic5	T	G	14: 122,464,974	D115A	unknown	Het

Other mutations in Akap2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
A9681:Akap2	UTSW	4	57855358	missense	probably damaging	1.00
IGL02835:Akap2	UTSW	4	57883044	missense	probably damaging	1.00
R0284:Akap2	UTSW	4	57855207	missense	probably damaging	1.00
R0356:Akap2	UTSW	4	57855628	missense	possibly damaging	0.48
R0594:Akap2	UTSW	4	57856752	missense	probably benign	0.00
R0614:Akap2	UTSW	4	57856720	missense	probably benign	0.41
R0617:Akap2	UTSW	4	57829434	intron	probably benign
R1228:Akap2	UTSW	4	57856909	missense	probably damaging	1.00
R2081:Akap2	UTSW	4	57855927	missense	possibly damaging	0.49
R2128:Akap2	UTSW	4	57854890	missense	probably benign	0.40
R4667:Akap2	UTSW	4	57855655	missense	possibly damaging	0.80
R4804:Akap2	UTSW	4	57854688	missense	probably benign	0.05
R4989:Akap2	UTSW	4	57856552	missense	probably benign
R5135:Akap2	UTSW	4	57855912	missense	probably benign	0.00
R5292:Akap2	UTSW	4	57855356	missense	probably damaging	0.98
R5420:Akap2	UTSW	4	57856062	missense	probably benign	0.08
R5420:Akap2	UTSW	4	57856434	missense	probably damaging	1.00
R5517:Akap2	UTSW	4	57855987	missense	probably damaging	0.99
R5648:Akap2	UTSW	4	57854848	missense	probably damaging	1.00
R5886:Akap2	UTSW	4	57856295	missense	probably damaging	1.00
R5993:Akap2	UTSW	4	57855273	missense	possibly damaging	0.86
R6133:Akap2	UTSW	4	57855516	nonsense	probably null
R6221:Akap2	UTSW	4	57855618	nonsense	probably null
R6532:Akap2	UTSW	4	57855174	missense	probably benign	0.00
R6760:Akap2	UTSW	4	57856026	missense	probably damaging	1.00
R6792:Akap2	UTSW	4	57855880	missense	possibly damaging	0.90
R7128:Akap2	UTSW	4	57855816	missense	probably benign	0.03
R7269:Akap2	UTSW	4	57855217	missense	probably damaging	1.00
R7837:Akap2	UTSW	4	57855262	missense	probably damaging	1.00
R7940:Akap2	UTSW	4	57883026	missense	probably damaging	0.98
R8094:Akap2	UTSW	4	57886319	missense	possibly damaging	0.81
R8275:Akap2	UTSW	4	57886329	critical splice donor site	probably null
R9010:Akap2	UTSW	4	57883192	missense	probably damaging	1.00
R9060:Akap2	UTSW	4	57855412	missense	probably damaging	1.00
Z1177:Akap2	UTSW	4	57856348	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAATTCCAGGCAGACACTGG -3'
(R):5'- CTCCTCCTGAGTCAAAGATACATTG -3'

Sequencing Primer
(F):5'- GCAGACACTGGCCAAGG -3'
(R):5'- GACCGATCTTGAAAATTGGTCC -3'

Posted On

2018-02-27