Mutagenetix > Incidental Mutation

Incidental Mutation 'R9473:Akap5'

715586

Institutional Source

Beutler Lab

Gene Symbol

Akap5

Ensembl Gene

ENSMUSG00000021057

Gene Name

A kinase anchor protein 5

Synonyms

LOC238276, 3526401B18Rik, AKAP150

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.314) question?

Stock #

R9473 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76371665-76380927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76376632 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 688 (L688P)

Ref Sequence

ENSEMBL: ENSMUSP00000093270 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095610] [ENSMUST00000154078] [ENSMUST00000172992]

AlphaFold

D3YVF0

Predicted Effect

probably damaging
Transcript: ENSMUST00000095610
AA Change: L688P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093270
Gene: ENSMUSG00000021057
AA Change: L688P

Domain	Start	End	E-Value	Type
low complexity region	45	57	N/A	INTRINSIC
Pfam:WSK	78	108	4.7e-13	PFAM
SCOP:d1k28a2	386	573	6e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000154078
AA Change: L681P

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

SMART Domains

Protein: ENSMUSP00000114495
Gene: ENSMUSG00000021057
AA Change: L681P

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
Pfam:WSK	71	101	3.3e-13	PFAM
SCOP:d1k28a2	379	566	8e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000172992
AA Change: L688P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134127
Gene: ENSMUSG00000021057
AA Change: L688P

Domain	Start	End	E-Value	Type
low complexity region	45	57	N/A	INTRINSIC
Pfam:WSK	79	107	8.7e-15	PFAM
SCOP:d1k28a2	386	573	6e-21	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to the RII-beta regulatory subunit of PKA, and also to protein kinase C and the phosphatase calcineurin. It is predominantly expressed in cerebral cortex and may anchor the PKA protein at postsynaptic densities (PSD) and be involved in the regulation of postsynaptic events. It is also expressed in T lymphocytes and may function to inhibit interleukin-2 transcription by disrupting calcineurin-dependent dephosphorylation of NFAT. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced long term potentiation, improved glucose handling and heightened insulin sensitivity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	C	T	5: 144,980,912 (GRCm39)	P107L	probably benign	Het
Abcc10	T	C	17: 46,617,609 (GRCm39)	N1142S	probably benign	Het
Accsl	T	C	2: 93,686,092 (GRCm39)	H575R	probably benign	Het
Adgra2	T	A	8: 27,610,943 (GRCm39)	L964Q	probably damaging	Het
Anapc10	A	G	8: 80,501,673 (GRCm39)	N147S	probably damaging	Het
Atm	C	T	9: 53,410,272 (GRCm39)	E1059K	probably benign	Het
Bltp2	G	A	11: 78,174,983 (GRCm39)	R1706H	probably damaging	Het
Bmf	A	C	2: 118,363,104 (GRCm39)	F251V	probably benign	Het
Capn3	G	T	2: 120,326,535 (GRCm39)	E576*	probably null	Het
Capns2	T	C	8: 93,628,854 (GRCm39)	*248R	probably null	Het
Ceacam13	G	T	7: 17,747,281 (GRCm39)	V245L	probably benign	Het
Clcn3	T	C	8: 61,407,651 (GRCm39)	D2G	probably benign	Het
Dcstamp	G	A	15: 39,617,972 (GRCm39)	C127Y	probably damaging	Het
Dnmt3l	C	T	10: 77,886,022 (GRCm39)	Q36*	probably null	Het
Dpys	A	G	15: 39,687,583 (GRCm39)	I405T	possibly damaging	Het
Duoxa1	A	G	2: 122,134,326 (GRCm39)	I309T	probably benign	Het
Eif2b1	G	A	5: 124,712,677 (GRCm39)	Q156*	probably null	Het
Eif3l	T	A	15: 78,970,704 (GRCm39)	M326K	probably damaging	Het
Fbxl13	T	C	5: 21,790,243 (GRCm39)	N267D	possibly damaging	Het
Fip1l1	C	T	5: 74,745,719 (GRCm39)	T372I	probably damaging	Het
Galt	A	G	4: 41,757,575 (GRCm39)	N249S	probably benign	Het
Gm17324	G	T	9: 78,355,839 (GRCm39)	R47S	unknown	Het
Gm45871	T	G	18: 90,609,093 (GRCm39)	D110E	probably benign	Het
Gtf2ird1	T	A	5: 134,433,534 (GRCm39)	T298S	probably benign	Het
Ighv7-4	T	C	12: 114,186,722 (GRCm39)	I17V	probably benign	Het
Krt7	C	T	15: 101,318,409 (GRCm39)	R299W	probably damaging	Het
Macc1	A	G	12: 119,297,990 (GRCm39)		probably benign	Het
Mturn	G	A	6: 54,666,009 (GRCm39)	E61K	probably benign	Het
Nol11	T	C	11: 107,075,581 (GRCm39)	D149G	probably null	Het
Nr4a3	A	T	4: 48,052,143 (GRCm39)	N299I	probably damaging	Het
Pip5k1b	A	T	19: 24,335,590 (GRCm39)	I351N	probably damaging	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Pramel11	T	G	4: 143,620,815 (GRCm39)	T468P	probably benign	Het
Rdh19	A	G	10: 127,696,177 (GRCm39)	T310A	probably benign	Het
Rflnb	T	A	11: 75,913,064 (GRCm39)	Y108F	probably damaging	Het
Rfx1	A	T	8: 84,819,903 (GRCm39)	I713F	probably damaging	Het
Saxo5	G	A	8: 3,529,232 (GRCm39)	C239Y	probably benign	Het
Scgn	T	C	13: 24,143,731 (GRCm39)		probably null	Het
Serpina1d	T	C	12: 103,729,939 (GRCm39)	*414W	probably null	Het
Slc18a3	T	C	14: 32,185,913 (GRCm39)	I157V	probably benign	Het
Steap1	T	C	5: 5,790,378 (GRCm39)	Y190C	probably damaging	Het
Svep1	A	G	4: 58,064,243 (GRCm39)	S3247P	probably benign	Het
Syne1	T	C	10: 5,198,258 (GRCm39)	I3778V	probably benign	Het
Tas2r114	T	C	6: 131,666,104 (GRCm39)	D308G	probably benign	Het
Tpm2	A	T	4: 43,514,813 (GRCm39)	L274*	probably null	Het
Ttc39b	A	G	4: 83,181,977 (GRCm39)	F81L	possibly damaging	Het
Ttn	A	G	2: 76,547,338 (GRCm39)	V32236A	probably damaging	Het
Ubr5	A	G	15: 38,002,617 (GRCm39)	V1472A		Het
Ugt2b1	A	T	5: 87,065,539 (GRCm39)	V500D	possibly damaging	Het
Vpreb1b	G	A	16: 17,798,565 (GRCm39)	C17Y	probably benign	Het
Wscd1	A	G	11: 71,679,644 (GRCm39)	N506D	probably damaging	Het

Other mutations in Akap5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02194:Akap5	APN	12	76,374,807 (GRCm39)	missense	probably damaging	0.99
IGL02309:Akap5	APN	12	76,375,629 (GRCm39)	missense	possibly damaging	0.91
IGL02801:Akap5	APN	12	76,375,769 (GRCm39)	missense	probably benign	0.25
IGL03136:Akap5	APN	12	76,376,649 (GRCm39)	nonsense	probably null
PIT4802001:Akap5	UTSW	12	76,376,706 (GRCm39)	missense	probably damaging	1.00
R1517:Akap5	UTSW	12	76,376,036 (GRCm39)	missense	possibly damaging	0.91
R1694:Akap5	UTSW	12	76,376,698 (GRCm39)	missense	probably damaging	0.99
R2012:Akap5	UTSW	12	76,376,122 (GRCm39)	missense	possibly damaging	0.53
R4507:Akap5	UTSW	12	76,374,681 (GRCm39)	missense	possibly damaging	0.91
R4755:Akap5	UTSW	12	76,374,581 (GRCm39)	nonsense	probably null
R4893:Akap5	UTSW	12	76,376,743 (GRCm39)	missense	probably damaging	0.99
R4905:Akap5	UTSW	12	76,375,207 (GRCm39)	missense	probably damaging	0.96
R5482:Akap5	UTSW	12	76,375,600 (GRCm39)	missense	probably benign	0.26
R5886:Akap5	UTSW	12	76,374,619 (GRCm39)	missense	possibly damaging	0.88
R7151:Akap5	UTSW	12	76,375,023 (GRCm39)	missense	probably benign	0.08
R7413:Akap5	UTSW	12	76,375,678 (GRCm39)	missense	possibly damaging	0.65
R7514:Akap5	UTSW	12	76,375,303 (GRCm39)	missense	probably benign	0.00
R8494:Akap5	UTSW	12	76,376,455 (GRCm39)	missense	probably benign
R9117:Akap5	UTSW	12	76,374,592 (GRCm39)	missense	possibly damaging	0.53
R9187:Akap5	UTSW	12	76,376,745 (GRCm39)	nonsense	probably null
R9493:Akap5	UTSW	12	76,375,041 (GRCm39)	missense	probably damaging	0.99
X0067:Akap5	UTSW	12	76,374,972 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGAGGAACCCACAGTGGATC -3'
(R):5'- ACCTGGAAACGAAGTCACTG -3'

Sequencing Primer
(F):5'- AACCCACAGTGGATCAGGCTG -3'
(R):5'- CAGCGTATTTATTTGATTATCCTCGG -3'

Posted On

2022-06-15