Mutagenetix > Incidental Mutation

Incidental Mutation 'R9117:Akap5'

692612

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: 0.345) question?

Stock #

R9117 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76371665-76380927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76374592 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 8 (M8K)

Ref Sequence

ENSEMBL: ENSMUSP00000093270 (fasta)

Gene Model

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

AlphaFold

D3YVF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095610
AA Change: M8K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000093270
Gene: ENSMUSG00000021057
AA Change: M8K

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 null
Transcript: ENSMUST00000154078
AA Change: M1K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000114495
Gene: ENSMUSG00000021057
AA Change: M1K

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

possibly damaging
Transcript: ENSMUST00000172992
AA Change: M8K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134127
Gene: ENSMUSG00000021057
AA Change: M8K

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: 99.7%
20x: 98.9%

Validation Efficiency

98% (56/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061I04Rik	C	G	17: 36,203,963 (GRCm39)	S185T	probably benign	Het
Agfg1	T	G	1: 82,872,216 (GRCm39)	F516L	possibly damaging	Het
Aldh1l2	C	T	10: 83,342,545 (GRCm39)	V535I	probably benign	Het
Atg3	T	C	16: 45,006,564 (GRCm39)	V277A	probably damaging	Het
Bloc1s6	C	T	2: 122,588,534 (GRCm39)	P168L	probably damaging	Het
Ccr7	A	G	11: 99,036,086 (GRCm39)	Y279H	probably damaging	Het
Cfap210	G	T	2: 69,612,103 (GRCm39)	S175*	probably null	Het
Clint1	A	G	11: 45,781,562 (GRCm39)	T211A	probably damaging	Het
Dchs2	T	G	3: 83,176,662 (GRCm39)	D873E	probably benign	Het
Dhx30	A	G	9: 109,926,164 (GRCm39)	L149P	probably damaging	Het
Dnah1	T	C	14: 31,033,581 (GRCm39)		probably benign	Het
Dtx1	A	G	5: 120,848,356 (GRCm39)	V8A	probably benign	Het
Enpp3	T	A	10: 24,702,078 (GRCm39)	K91N	possibly damaging	Het
Fcho1	C	T	8: 72,164,712 (GRCm39)	G523E	possibly damaging	Het
Ffar2	T	C	7: 30,518,616 (GRCm39)	E308G	probably damaging	Het
Foxb2	T	C	19: 16,850,758 (GRCm39)	K83E	unknown	Het
Git2	A	G	5: 114,887,621 (GRCm39)		probably null	Het
Gm10024	T	C	10: 77,547,339 (GRCm39)	S17P	unknown	Het
Greb1l	A	T	18: 10,542,422 (GRCm39)	Y1339F	probably benign	Het
Grhl2	T	A	15: 37,270,912 (GRCm39)	D33E	probably damaging	Het
Herc4	C	A	10: 63,126,300 (GRCm39)	L551I	probably benign	Het
Igfn1	T	A	1: 135,902,528 (GRCm39)	T390S	probably benign	Het
Ighv3-1	T	A	12: 113,928,089 (GRCm39)	H90L	probably benign	Het
Jag2	G	T	12: 112,877,279 (GRCm39)	Y697*	probably null	Het
Kif1c	T	C	11: 70,595,798 (GRCm39)	V168A	probably damaging	Het
Lipn	T	C	19: 34,046,041 (GRCm39)	W5R	probably damaging	Het
Mavs	G	A	2: 131,087,245 (GRCm39)	A248T	probably benign	Het
Megf10	G	A	18: 57,392,773 (GRCm39)	G390D	probably damaging	Het
Mib1	A	G	18: 10,793,023 (GRCm39)	H653R	probably benign	Het
Mrps9	T	G	1: 42,942,537 (GRCm39)	S332A	probably benign	Het
Muc5b	T	C	7: 141,423,070 (GRCm39)	C4498R	possibly damaging	Het
Myo15b	T	A	11: 115,778,743 (GRCm39)	I1157N	possibly damaging	Het
Myo9b	C	T	8: 71,800,451 (GRCm39)	T1002M	probably benign	Het
Nav3	T	A	10: 109,520,100 (GRCm39)	M2328L	probably benign	Het
Or5h18	T	C	16: 58,847,653 (GRCm39)	I206V	probably benign	Het
Or8b52	T	A	9: 38,577,106 (GRCm39)	E11D	probably benign	Het
Pawr	T	C	10: 108,169,140 (GRCm39)	S155P	probably damaging	Het
Pcdhb15	G	T	18: 37,608,090 (GRCm39)	V441F	probably damaging	Het
Plekhg3	A	G	12: 76,624,905 (GRCm39)	D1250G	probably benign	Het
Ptprs	T	A	17: 56,742,853 (GRCm39)	M430L	possibly damaging	Het
Raly	T	A	2: 154,703,785 (GRCm39)	S119T	probably damaging	Het
Serpinb6a	A	T	13: 34,109,412 (GRCm39)	S128T	probably benign	Het
Sirt3	C	T	7: 140,449,362 (GRCm39)		probably benign	Het
Slc22a7	A	G	17: 46,748,029 (GRCm39)	F210L	probably damaging	Het
Speg	G	T	1: 75,364,444 (GRCm39)	S275I	probably damaging	Het
Stk32c	C	T	7: 138,768,141 (GRCm39)	D47N	unknown	Het
Stra6	T	G	9: 58,059,822 (GRCm39)	S594R	probably benign	Het
Sun2	T	C	15: 79,614,517 (GRCm39)	H295R	probably benign	Het
Syne1	T	C	10: 5,053,667 (GRCm39)	Q7470R	probably damaging	Het
Syt14	A	T	1: 192,666,126 (GRCm39)	H259Q	unknown	Het
Toporsl	A	T	4: 52,609,943 (GRCm39)		probably benign	Het
Trim50	A	G	5: 135,382,537 (GRCm39)	S130G	possibly damaging	Het
Tyw1	G	A	5: 130,298,065 (GRCm39)	R202Q	probably damaging	Het
Wdr18	T	C	10: 79,801,154 (GRCm39)	V189A	probably benign	Het
Zfat	C	A	15: 68,058,918 (GRCm39)	A206S	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
R9187:Akap5	UTSW	12	76,376,745 (GRCm39)	nonsense	probably null
R9473:Akap5	UTSW	12	76,376,632 (GRCm39)	missense	probably damaging	1.00
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'- AAACAAGGCGTTCGTGTCC -3'
(R):5'- TCACAAGGCCTTTGATGGAGG -3'

Sequencing Primer
(F):5'- TCGTGTCCTGAAGAAGTCAC -3'
(R):5'- TTGCCGTTGACCAGAGC -3'

Posted On

2021-12-30