Mutagenetix > Incidental Mutations

Incidental Mutation 'R2128:Akap2'

227708

Institutional Source

Beutler Lab

Gene Symbol

Akap2

Ensembl Gene

ENSMUSG00000038729

Gene Name

A kinase (PRKA) anchor protein 2

Synonyms

AKAP-KL, B230340M18Rik

MMRRC Submission

040131-MU

Accession Numbers

Genbank: NM_001035533; MGI: 1306795

Is this an essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R2128 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57717657-57896984 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 57854890 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 134 (Y134C)

Ref Sequence

ENSEMBL: ENSMUSP00000120325 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000043456
AA Change: Y73C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000048678
Gene: ENSMUSG00000038729
AA Change: Y73C

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: Y73C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000095672
Gene: ENSMUSG00000038729
AA Change: Y73C

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: Y73C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000099966
Gene: ENSMUSG00000038729
AA Change: Y73C

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: Y73C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000099967
Gene: ENSMUSG00000038729
AA Change: Y73C

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: Y73C

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000103224
Gene: ENSMUSG00000038729
AA Change: Y73C

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: Y114C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000103226
Gene: ENSMUSG00000038729
AA Change: Y114C

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
AA Change: Y73C

PolyPhen 2 Score 0.191 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119742
Gene: ENSMUSG00000038729
AA Change: Y73C

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
AA Change: Y134C

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

Predicted Effect

unknown
Transcript: ENSMUST00000150412
AA Change: Y316C

SMART Domains

Protein: ENSMUSP00000117466
Gene: ENSMUSG00000089945
AA Change: Y316C

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,230,204	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,457,515	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 160,075,375	K72*	probably null	Het
Abca6	A	G	11: 110,219,649	I558T	probably benign	Het
Acot10	T	C	15: 20,666,626	T10A	probably benign	Het
Adgrl4	T	A	3: 151,500,201	D233E	probably benign	Het
Adgrv1	A	T	13: 81,557,080	F1537Y	probably damaging	Het
Aqp3	T	A	4: 41,098,061	I17F	probably benign	Het
Arap1	T	A	7: 101,409,320	L1375H	probably damaging	Het
Aspm	T	C	1: 139,457,635	V339A	probably benign	Het
Atp13a3	G	A	16: 30,354,276	A261V	probably damaging	Het
Casp8ap2	T	C	4: 32,640,142	Y399H	probably benign	Het
Cept1	A	G	3: 106,512,879	V213A	probably damaging	Het
Cit	A	G	5: 115,985,507	D1469G	possibly damaging	Het
Cnga2	A	G	X: 72,007,788	Y182C	possibly damaging	Het
Cox20	A	G	1: 178,321,947	I54V	probably benign	Het
Dhx8	C	A	11: 101,738,409	D261E	probably benign	Het
Dnah2	A	T	11: 69,458,185	I2486N	probably benign	Het
Dnah5	A	G	15: 28,408,321	Q3484R	probably benign	Het
Drd1	T	C	13: 54,053,553	Y207C	probably damaging	Het
Dtl	C	T	1: 191,558,110	V222I	probably damaging	Het
Dync1h1	T	C	12: 110,640,882	Y2636H	probably damaging	Het
Endog	C	A	2: 30,172,036	D154E	probably benign	Het
Epc1	A	T	18: 6,462,954	V14E	probably damaging	Het
Ercc4	C	A	16: 13,147,934	T810K	probably damaging	Het
Fam43b	T	A	4: 138,395,988	N7I	possibly damaging	Het
Fgd1	T	C	X: 151,086,217		probably null	Het
Filip1	G	T	9: 79,819,330	T669N	probably damaging	Het
Fndc1	A	G	17: 7,778,665		probably benign	Het
Foxk1	C	A	5: 142,435,188	S189*	probably null	Het
Gatm	T	C	2: 122,600,536	N274S	probably damaging	Het
Gdf9	A	G	11: 53,437,507	Y430C	probably damaging	Het
Gga1	C	T	15: 78,888,448	P260S	probably damaging	Het
Gm11595	A	T	11: 99,772,501	C118S	unknown	Het
Gm382	G	T	X: 127,062,651	V820L	possibly damaging	Het
Gzmk	T	A	13: 113,172,014	I179F	probably damaging	Het
Hsp90b1	T	C	10: 86,695,706	D421G	probably damaging	Het
Hus1	A	G	11: 9,006,011	M174T	probably damaging	Het
Ifngr2	T	A	16: 91,562,873	Y289*	probably null	Het
Il6st	T	A	13: 112,504,175	H828Q	probably benign	Het
Impg2	T	A	16: 56,218,379	Y127N	probably damaging	Het
Irf3	T	A	7: 45,001,744	W345R	probably damaging	Het
Kif1b	G	A	4: 149,187,640	S1568L	possibly damaging	Het
Klhl42	A	G	6: 147,101,753	T342A	probably benign	Het
Kndc1	G	T	7: 139,930,112	R1289L	probably damaging	Het
Knl1	A	T	2: 119,071,819	T1334S	possibly damaging	Het
L3mbtl3	G	T	10: 26,313,868	D499E	unknown	Het
Ldhd	T	A	8: 111,627,048	M478L	probably benign	Het
Loxl4	C	G	19: 42,603,963	E385D	probably damaging	Het
Lrriq1	G	A	10: 103,214,857	T678I	probably benign	Het
Macf1	T	A	4: 123,492,774	I1017F	probably benign	Het
Madcam1	A	G	10: 79,665,572	E157G	possibly damaging	Het
Mamdc4	T	C	2: 25,569,258	D195G	probably damaging	Het
Mctp1	A	G	13: 76,824,822	D648G	probably damaging	Het
Mycbp2	T	C	14: 103,201,230	M2072V	probably benign	Het
Nck1	A	G	9: 100,497,547		probably null	Het
Ndufaf4	G	T	4: 24,898,608	D55Y	probably damaging	Het
Nek11	A	T	9: 105,300,361	D230E	probably benign	Het
Nit2	T	C	16: 57,161,196	K67E	possibly damaging	Het
Olfr2	T	C	7: 107,001,248	D204G	probably damaging	Het
Olfr290	T	C	7: 84,916,493	F238S	probably damaging	Het
Olfr527	C	T	7: 140,336,429	T189M	probably damaging	Het
Olfr802	A	T	10: 129,682,532	V69E	possibly damaging	Het
Pccb	G	C	9: 100,985,831	D347E	probably damaging	Het
Plcl1	T	A	1: 55,697,838	F779L	probably damaging	Het
Prune2	C	A	19: 17,122,422	D1763E	probably benign	Het
Pwwp2a	A	G	11: 43,705,318	S437G	probably benign	Het
Rabgap1l	A	T	1: 160,738,957	D90E	probably benign	Het
Rapgef4	T	A	2: 72,226,553	I552N	possibly damaging	Het
Scn7a	A	T	2: 66,697,986	I720K	probably damaging	Het
Scn9a	T	A	2: 66,526,654	N1101I	probably damaging	Het
Siglec1	A	T	2: 131,080,497	Y553N	probably damaging	Het
Slc22a23	A	G	13: 34,203,970	L381P	possibly damaging	Het
Slc7a11	T	A	3: 50,384,109	T284S	probably damaging	Het
Slc8a2	T	A	7: 16,140,492		probably null	Het
Snx29	T	A	16: 11,400,971	S224T	probably damaging	Het
Stox1	T	C	10: 62,664,535	T749A	probably benign	Het
Tg	A	G	15: 66,694,894	I1264V	probably benign	Het
Tmem110	T	C	14: 30,866,624	Y103H	probably damaging	Het
Top2a	A	C	11: 99,009,807	V609G	probably damaging	Het
Trmt44	G	A	5: 35,574,832	P72S	probably benign	Het
Ttll3	G	C	6: 113,412,934	S760T	probably benign	Het
Ttn	T	C	2: 76,748,678	D23957G	probably damaging	Het
Ttn	G	A	2: 76,833,897		probably benign	Het
Ubxn1	T	G	19: 8,872,070	V59G	probably benign	Het
Ubxn4	T	C	1: 128,244,510	S14P	probably benign	Het
Uso1	T	A	5: 92,195,370	M771K	probably benign	Het
Utp20	A	G	10: 88,814,055	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,620,612	S142G	probably benign	Het
Vmn2r19	A	G	6: 123,308,330		probably null	Het
Vps36	G	T	8: 22,218,289		probably null	Het
Wnt3	A	G	11: 103,812,648	H319R	possibly damaging	Het
Zbtb26	G	T	2: 37,436,551	Q158K	probably benign	Het
Zfp648	T	C	1: 154,204,607	S171P	probably benign	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
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
R6189:Akap2	UTSW	4	57855928	missense	probably benign	0.00
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
Z1177:Akap2	UTSW	4	57856348	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTACCTGGAGTCACCTCTACC -3'
(R):5'- AGTGTGAACTCCCCATCTCG -3'

Sequencing Primer
(F):5'- CCCCCATTCCAAGGACCACTC -3'
(R):5'- TGTTCCCCAGCAGGTCTTGG -3'

Posted On

2014-09-17