Mutagenetix > Incidental Mutation

Incidental Mutation 'R2012:Akap5'

220006

Institutional Source

Beutler Lab

Gene Symbol

Akap5

Ensembl Gene

ENSMUSG00000021057

Gene Name

A kinase anchor protein 5

Synonyms

LOC238276, 3526401B18Rik, AKAP150

MMRRC Submission

040021-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R2012 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76371665-76380927 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76376122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 518 (H518L)

Ref Sequence

ENSEMBL: ENSMUSP00000134127 (fasta)

Gene Model

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

AlphaFold

D3YVF0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095610
AA Change: H518L

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

SMART Domains

Protein: ENSMUSP00000093270
Gene: ENSMUSG00000021057
AA Change: H518L

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

possibly damaging
Transcript: ENSMUST00000154078
AA Change: H511L

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

SMART Domains

Protein: ENSMUSP00000114495
Gene: ENSMUSG00000021057
AA Change: H511L

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: H518L

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

SMART Domains

Protein: ENSMUSP00000134127
Gene: ENSMUSG00000021057
AA Change: H518L

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: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.6%

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: 109 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	A	T	5: 8,167,634 (GRCm39)	S675R	probably damaging	Het
Ankfn1	T	C	11: 89,296,423 (GRCm39)	D102G	probably damaging	Het
Aox3	A	T	1: 58,177,391 (GRCm39)	Y202F	probably benign	Het
Arhgef37	G	A	18: 61,637,427 (GRCm39)	L412F	possibly damaging	Het
B4galt3	C	T	1: 171,100,118 (GRCm39)	P121L	probably damaging	Het
BC034090	C	T	1: 155,097,178 (GRCm39)	R640Q	probably damaging	Het
Bhmt	A	T	13: 93,761,900 (GRCm39)	Y128N	probably damaging	Het
Bin3	A	G	14: 70,372,222 (GRCm39)	E173G	probably damaging	Het
C1qtnf1	T	A	11: 118,339,110 (GRCm39)	F260Y	probably benign	Het
Ccdc14	G	T	16: 34,511,092 (GRCm39)	G22V	possibly damaging	Het
Ccnc	A	T	4: 21,741,955 (GRCm39)	I135L	possibly damaging	Het
Chd3	T	C	11: 69,239,878 (GRCm39)	D1650G	probably benign	Het
Cherp	A	C	8: 73,228,613 (GRCm39)	N14K	probably damaging	Het
Clint1	C	T	11: 45,784,919 (GRCm39)	T306I	possibly damaging	Het
Cyb5r1	T	A	1: 134,335,315 (GRCm39)	Y85N	probably damaging	Het
D830013O20Rik	A	G	12: 73,418,162 (GRCm39)		noncoding transcript	Het
Dapk1	A	T	13: 60,869,671 (GRCm39)	K304N	probably damaging	Het
Dnah6	T	A	6: 73,044,449 (GRCm39)	N3169Y	probably damaging	Het
Dync2h1	A	T	9: 7,169,589 (GRCm39)	I296K	probably benign	Het
Elp2	A	T	18: 24,764,515 (GRCm39)	T621S	probably benign	Het
Eml6	G	T	11: 29,781,128 (GRCm39)	Q635K	possibly damaging	Het
Exph5	G	A	9: 53,278,466 (GRCm39)	M192I	possibly damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Gas6	C	T	8: 13,518,266 (GRCm39)	V523M	probably damaging	Het
Ggn	A	T	7: 28,873,188 (GRCm39)		probably null	Het
Gimap8	A	G	6: 48,633,287 (GRCm39)	T369A	probably damaging	Het
Grm5	T	C	7: 87,724,080 (GRCm39)	I790T	probably damaging	Het
Gtpbp6	G	A	5: 110,252,790 (GRCm39)	A354V	probably damaging	Het
Habp4	G	A	13: 64,317,995 (GRCm39)		probably null	Het
Has2	A	G	15: 56,531,264 (GRCm39)	W484R	probably damaging	Het
Herc4	G	T	10: 63,079,817 (GRCm39)		probably benign	Het
Igf2	C	A	7: 142,208,136 (GRCm39)	E106D	probably damaging	Het
Il17rb	A	T	14: 29,718,797 (GRCm39)	C428*	probably null	Het
Ipo11	A	T	13: 107,056,130 (GRCm39)	N47K	probably benign	Het
Itga4	T	G	2: 79,108,138 (GRCm39)	S197A	probably damaging	Het
Itpr1	T	A	6: 108,417,497 (GRCm39)	M1788K	probably benign	Het
Kbtbd3	C	T	9: 4,330,919 (GRCm39)	T431I	probably benign	Het
Kif5a	A	T	10: 127,075,044 (GRCm39)	V523E	probably benign	Het
Klhl41	A	T	2: 69,513,840 (GRCm39)	D573V	possibly damaging	Het
Kndc1	C	A	7: 139,501,196 (GRCm39)	H828Q	possibly damaging	Het
Leng8	T	A	7: 4,146,609 (GRCm39)	V407D	probably damaging	Het
Mamdc2	C	T	19: 23,288,215 (GRCm39)	E608K	probably benign	Het
Mcf2	T	A	X: 59,122,574 (GRCm39)	R850S	probably damaging	Het
Mmp2	A	G	8: 93,576,831 (GRCm39)	N618S	probably benign	Het
Morn5	A	T	2: 35,942,950 (GRCm39)	M17L	probably benign	Het
Nme8	T	C	13: 19,881,053 (GRCm39)	N26S	probably damaging	Het
Nostrin	C	A	2: 68,975,111 (GRCm39)		probably null	Het
Npy4r	T	A	14: 33,869,154 (GRCm39)	I45F	possibly damaging	Het
Or13a21	T	A	7: 139,999,024 (GRCm39)	I221F	probably damaging	Het
Or1j11	A	G	2: 36,311,931 (GRCm39)	I174V	probably benign	Het
Or2aj5	C	T	16: 19,424,881 (GRCm39)	C179Y	probably benign	Het
Or2w1	T	A	13: 21,317,659 (GRCm39)	M238K	probably benign	Het
Or2w3b	T	C	11: 58,623,214 (GRCm39)	Y259C	possibly damaging	Het
Or4a70	A	G	2: 89,324,342 (GRCm39)	F105L	probably benign	Het
Or5d36	A	G	2: 87,901,063 (GRCm39)	V221A	probably benign	Het
Oxt	A	G	2: 130,418,572 (GRCm39)	D61G	probably damaging	Het
Patl1	T	C	19: 11,917,181 (GRCm39)	L676P	probably damaging	Het
Pcdhb20	G	A	18: 37,638,127 (GRCm39)	G218R	probably damaging	Het
Pdgfrb	T	A	18: 61,194,566 (GRCm39)	S114R	probably benign	Het
Pfdn5	A	G	15: 102,234,956 (GRCm39)	N54S	possibly damaging	Het
Phldb1	G	T	9: 44,639,333 (GRCm39)	T15N	possibly damaging	Het
Pink1	A	C	4: 138,045,316 (GRCm39)	S253A	probably null	Het
Plag1	A	T	4: 3,904,870 (GRCm39)	L107Q	probably damaging	Het
Pld5	C	A	1: 175,791,579 (GRCm39)	V476L	probably benign	Het
Pramel28	A	T	4: 143,692,637 (GRCm39)	D121E	probably benign	Het
Prrt2	C	T	7: 126,618,581 (GRCm39)	A295T	probably damaging	Het
Ptgs1	A	G	2: 36,127,668 (GRCm39)	I76V	probably benign	Het
Ptprz1	A	G	6: 23,001,026 (GRCm39)	T1039A	probably benign	Het
Rbm20	G	A	19: 53,847,859 (GRCm39)	C1135Y	probably damaging	Het
Recql5	A	T	11: 115,787,923 (GRCm39)	N465K	probably benign	Het
Rgs12	A	G	5: 35,187,872 (GRCm39)	S510G	probably benign	Het
Satb1	G	A	17: 52,089,816 (GRCm39)	Q344*	probably null	Het
Sdr16c5	A	G	4: 3,996,244 (GRCm39)	I283T	probably benign	Het
Serpinb3c	T	C	1: 107,199,574 (GRCm39)	S316G	possibly damaging	Het
Siglec1	A	T	2: 130,925,277 (GRCm39)	Y395N	probably damaging	Het
Simc1	A	G	13: 54,651,701 (GRCm39)	I5V	probably benign	Het
Slc27a2	T	C	2: 126,395,535 (GRCm39)	V154A	probably damaging	Het
Slc27a5	A	G	7: 12,731,634 (GRCm39)	L119S	probably damaging	Het
Slc35g2	T	A	9: 100,435,120 (GRCm39)	T184S	possibly damaging	Het
Slc4a7	C	T	14: 14,733,727 (GRCm38)	R46*	probably null	Het
Smcr8	T	C	11: 60,669,010 (GRCm39)	F53L	probably damaging	Het
Spag9	T	A	11: 93,983,201 (GRCm39)	L504*	probably null	Het
Spata31d1a	A	G	13: 59,850,370 (GRCm39)	I586T	possibly damaging	Het
Spata31d1c	A	T	13: 65,183,041 (GRCm39)	E194D	possibly damaging	Het
Spats2	A	G	15: 99,076,375 (GRCm39)	E151G	probably damaging	Het
Sugp2	T	A	8: 70,695,861 (GRCm39)	L278Q	possibly damaging	Het
Sult2a7	T	A	7: 14,207,322 (GRCm39)		probably benign	Het
Syde2	G	T	3: 145,694,163 (GRCm39)	G137V	possibly damaging	Het
Synj1	A	T	16: 90,735,584 (GRCm39)	F1456L	probably damaging	Het
Szt2	A	G	4: 118,220,862 (GRCm39)		probably benign	Het
Timd4	C	A	11: 46,710,857 (GRCm39)	T253K	possibly damaging	Het
Tlr3	G	T	8: 45,855,823 (GRCm39)	T119N	possibly damaging	Het
Tmc6	A	G	11: 117,660,232 (GRCm39)	Y669H	probably damaging	Het
Tmem221	T	C	8: 72,008,458 (GRCm39)	E194G	probably benign	Het
Tmem232	C	A	17: 65,807,167 (GRCm39)	V9F	probably benign	Het
Tpm1	G	A	9: 66,941,247 (GRCm39)	Q135*	probably null	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trpm7	A	T	2: 126,665,917 (GRCm39)	Y896*	probably null	Het
Tuba4a	A	T	1: 75,192,983 (GRCm39)	Y210*	probably null	Het
Tut7	A	G	13: 59,959,352 (GRCm39)	V372A	probably damaging	Het
Vegfa	T	G	17: 46,336,284 (GRCm39)	I279L	probably benign	Het
Vmn2r54	T	A	7: 12,349,804 (GRCm39)	T593S	probably damaging	Het
Vmn2r93	A	G	17: 18,536,840 (GRCm39)	I508V	probably benign	Het
Vps33a	G	T	5: 123,669,244 (GRCm39)		probably null	Het
Wasl	T	A	6: 24,624,360 (GRCm39)	N231I	probably damaging	Het
Zbtb39	A	G	10: 127,578,703 (GRCm39)	N426D	probably benign	Het
Zeb2	T	G	2: 44,887,962 (GRCm39)	H350P	probably damaging	Het
Zfp112	T	C	7: 23,824,725 (GRCm39)	F231S	possibly damaging	Het
Zfp180	T	C	7: 23,803,943 (GRCm39)	S121P	probably benign	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
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
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'- AGCTACAGTTGGCCACACAG -3'
(R):5'- GCCTGTCCAACTGTAGCTTC -3'

Sequencing Primer
(F):5'- TTGGCCACACAGAGAAAGTC -3'
(R):5'- TCTGCCTGACCCACTGTGG -3'

Posted On

2014-08-25