Mutagenetix > Incidental Mutation

Incidental Mutation 'R8504:Akap3'

655464

Institutional Source

Beutler Lab

Gene Symbol

Akap3

Ensembl Gene

ENSMUSG00000030344

Gene Name

A kinase anchor protein 3

Synonyms

MMRRC Submission

067840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R8504 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

126830061-126851271 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126841493 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 37 (D37E)

Ref Sequence

ENSEMBL: ENSMUSP00000093091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095440] [ENSMUST00000202574] [ENSMUST00000202878]

AlphaFold

O88987

Predicted Effect

probably damaging
Transcript: ENSMUST00000095440
AA Change: D37E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093091
Gene: ENSMUSG00000030344
AA Change: D37E

Domain	Start	End	E-Value	Type
AKAP_110	5	864	N/A	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202574
AA Change: D37E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000144405
Gene: ENSMUSG00000030344
AA Change: D37E

Domain	Start	End	E-Value	Type
AKAP_110	5	864	N/A	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000202878
AA Change: D37E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000143794
Gene: ENSMUSG00000030344
AA Change: D37E

Domain	Start	End	E-Value	Type
AKAP_110	5	864	N/A	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of A-kinase anchoring proteins (AKAPs), a family of functionally related proteins that target protein kinase A to discrete locations within the cell. The encoded protein is reported to participate in protein-protein interactions with the R-subunit of the protein kinase A as well as sperm-associated proteins. This protein is expressed in spermatozoa and localized to the acrosomal region of the sperm head as well as the length of the principal piece. It may function as a regulator of motility, capacitation, and the acrosome reaction. [provided by RefSeq, May 2013]

Allele List at MGI

All alleles(1) : Targeted(1)

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,922,983 (GRCm39)	S1181P	probably benign	Het
Acvr1c	C	T	2: 58,173,491 (GRCm39)	C337Y	probably damaging	Het
Adgrf5	A	G	17: 43,757,840 (GRCm39)	E758G	probably benign	Het
Ano5	A	T	7: 51,222,776 (GRCm39)	H445L	probably benign	Het
Ap4b1	T	A	3: 103,720,116 (GRCm39)	I121N	probably damaging	Het
Arhgdia	T	C	11: 120,470,354 (GRCm39)	K135E	probably benign	Het
Ass1	T	C	2: 31,391,544 (GRCm39)	F273S	possibly damaging	Het
Atp8a2	A	C	14: 59,885,366 (GRCm39)	Y1119*	probably null	Het
Birc6	T	A	17: 74,959,000 (GRCm39)	M3839K	probably damaging	Het
Cacna1a	A	G	8: 85,365,370 (GRCm39)	H2171R	probably benign	Het
Ccdc90b	T	A	7: 92,224,545 (GRCm39)	D183E	probably benign	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cdh23	T	A	10: 60,274,618 (GRCm39)	T491S	probably benign	Het
Cercam	T	C	2: 29,771,829 (GRCm39)	S550P	possibly damaging	Het
Chd9	A	G	8: 91,723,472 (GRCm39)	H1019R	unknown	Het
Coil	A	T	11: 88,871,980 (GRCm39)	K114*	probably null	Het
Csmd2	A	C	4: 128,440,483 (GRCm39)	T3183P		Het
Cul9	T	C	17: 46,814,506 (GRCm39)	Y2219C	probably damaging	Het
Efhd2	G	A	4: 141,587,186 (GRCm39)	Q199*	probably null	Het
Elp3	A	T	14: 65,785,360 (GRCm39)	S499R	probably benign	Het
Exoc8	T	G	8: 125,622,709 (GRCm39)	I553L	probably benign	Het
Fyco1	C	A	9: 123,659,142 (GRCm39)	V345L	probably benign	Het
Galr3	T	A	15: 78,927,279 (GRCm39)	V240E	probably damaging	Het
Gm21190	A	G	5: 15,730,862 (GRCm39)	S165P	probably benign	Het
Gnal	T	A	18: 67,350,255 (GRCm39)	Y372*	probably null	Het
H2-DMa	A	G	17: 34,357,416 (GRCm39)	N230D	probably damaging	Het
Hk2	T	C	6: 82,721,847 (GRCm39)	D164G	possibly damaging	Het
Ighv3-4	T	A	12: 114,217,544 (GRCm39)	I16F	possibly damaging	Het
Ivl	T	C	3: 92,480,078 (GRCm39)		probably benign	Het
Klhl8	G	A	5: 104,015,814 (GRCm39)	T434M	probably benign	Het
Lct	A	T	1: 128,215,306 (GRCm39)	S1757T	probably damaging	Het
Lmbr1l	T	A	15: 98,810,065 (GRCm39)	Y132F	probably damaging	Het
M6pr	T	C	6: 122,293,029 (GRCm39)	V203A	possibly damaging	Het
Map9	T	C	3: 82,284,476 (GRCm39)		probably null	Het
Muc5ac	A	T	7: 141,360,892 (GRCm39)	D1401V	probably damaging	Het
Myh7	A	G	14: 55,227,786 (GRCm39)	S291P	probably damaging	Het
Nynrin	G	C	14: 56,107,703 (GRCm39)	V937L	probably benign	Het
Or5d44	C	T	2: 88,141,825 (GRCm39)	G105D	probably benign	Het
Or5m3	T	G	2: 85,838,149 (GRCm39)	F10V	probably damaging	Het
Pank2	A	G	2: 131,135,320 (GRCm39)	N386S	probably benign	Het
Phkg2	G	T	7: 127,181,528 (GRCm39)	R237L	possibly damaging	Het
Pkhd1	C	T	1: 20,590,432 (GRCm39)	V1772I	probably benign	Het
Plch2	G	T	4: 155,068,852 (GRCm39)	P1258Q	probably benign	Het
Plekhm2	A	T	4: 141,369,764 (GRCm39)	I77N	probably damaging	Het
Ptprb	A	G	10: 116,176,936 (GRCm39)	T954A	probably benign	Het
Ranbp3	T	C	17: 57,015,273 (GRCm39)	V325A	probably damaging	Het
Rgs10	A	T	7: 128,019,793 (GRCm39)	S16T	probably benign	Het
Scaper	A	T	9: 55,771,722 (GRCm39)	V398E	probably benign	Het
Selenot	A	G	3: 58,492,698 (GRCm39)	I62V	probably benign	Het
Serpinb9e	T	A	13: 33,439,092 (GRCm39)	C173S	probably benign	Het
Slc13a3	G	T	2: 165,275,999 (GRCm39)	T249K	probably damaging	Het
Slc4a8	T	A	15: 100,701,171 (GRCm39)	V741D	possibly damaging	Het
Slco4a1	T	C	2: 180,106,592 (GRCm39)	V258A	probably damaging	Het
Sycp2l	T	G	13: 41,291,390 (GRCm39)	L256R	probably damaging	Het
Tektl1	T	C	10: 78,585,038 (GRCm39)	D266G	probably benign	Het
Tektl1	T	C	10: 78,586,463 (GRCm39)	D196G	probably damaging	Het
Top2a	C	T	11: 98,905,567 (GRCm39)	V337I	probably benign	Het
Tut4	T	C	4: 108,388,139 (GRCm39)	L1160P	probably damaging	Het
Unc13a	A	C	8: 72,098,405 (GRCm39)	F1127V	possibly damaging	Het
Wdr25	C	T	12: 108,992,393 (GRCm39)	Q435*	probably null	Het
Zc3h7b	T	G	15: 81,664,719 (GRCm39)	L526R	probably damaging	Het
Zeb1	C	A	18: 5,705,127 (GRCm39)	T48K	possibly damaging	Het
Zfhx2	A	C	14: 55,303,243 (GRCm39)	S1580R	probably benign	Het
Zfhx3	A	G	8: 109,583,549 (GRCm39)	I1139V	possibly damaging	Het
Zfp536	C	A	7: 37,179,492 (GRCm39)	V1038L	probably benign	Het
Zfp759	T	A	13: 67,286,947 (GRCm39)	V166E	probably benign	Het
Zfp985	A	T	4: 147,667,883 (GRCm39)	K250N	possibly damaging	Het

Other mutations in Akap3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Akap3	APN	6	126,842,694 (GRCm39)	missense	probably benign	0.38
IGL01070:Akap3	APN	6	126,842,842 (GRCm39)	missense	possibly damaging	0.93
IGL01975:Akap3	APN	6	126,850,963 (GRCm39)	missense	probably damaging	1.00
IGL02114:Akap3	APN	6	126,842,959 (GRCm39)	missense	probably damaging	0.99
IGL02349:Akap3	APN	6	126,837,226 (GRCm39)	missense	probably benign	0.01
IGL03305:Akap3	APN	6	126,841,728 (GRCm39)	missense	probably benign
IGL03412:Akap3	APN	6	126,841,688 (GRCm39)	missense	probably benign	0.00
IGL03097:Akap3	UTSW	6	126,843,379 (GRCm39)	missense	probably damaging	1.00
P0012:Akap3	UTSW	6	126,841,564 (GRCm39)	missense	possibly damaging	0.87
R0358:Akap3	UTSW	6	126,843,775 (GRCm39)	missense	probably damaging	1.00
R1123:Akap3	UTSW	6	126,842,929 (GRCm39)	missense	probably benign	0.27
R1163:Akap3	UTSW	6	126,841,750 (GRCm39)	missense	probably damaging	1.00
R1458:Akap3	UTSW	6	126,842,517 (GRCm39)	missense	probably damaging	1.00
R1769:Akap3	UTSW	6	126,842,809 (GRCm39)	missense	possibly damaging	0.67
R1967:Akap3	UTSW	6	126,842,061 (GRCm39)	missense	probably benign	0.02
R4030:Akap3	UTSW	6	126,841,984 (GRCm39)	missense	probably damaging	1.00
R4618:Akap3	UTSW	6	126,843,406 (GRCm39)	missense	probably benign	0.31
R4677:Akap3	UTSW	6	126,842,226 (GRCm39)	missense	probably damaging	0.99
R4735:Akap3	UTSW	6	126,842,601 (GRCm39)	missense	probably damaging	1.00
R5660:Akap3	UTSW	6	126,842,254 (GRCm39)	missense	probably damaging	1.00
R5834:Akap3	UTSW	6	126,842,796 (GRCm39)	missense	probably benign	0.04
R5847:Akap3	UTSW	6	126,842,521 (GRCm39)	missense	probably damaging	1.00
R6053:Akap3	UTSW	6	126,843,496 (GRCm39)	missense	probably damaging	0.98
R7007:Akap3	UTSW	6	126,843,439 (GRCm39)	missense	probably damaging	0.99
R7070:Akap3	UTSW	6	126,850,987 (GRCm39)	missense	probably damaging	1.00
R7123:Akap3	UTSW	6	126,843,267 (GRCm39)	missense	probably benign	0.05
R7173:Akap3	UTSW	6	126,841,729 (GRCm39)	missense	probably benign
R7238:Akap3	UTSW	6	126,842,200 (GRCm39)	missense	probably benign	0.00
R7437:Akap3	UTSW	6	126,842,618 (GRCm39)	missense	probably damaging	1.00
R7731:Akap3	UTSW	6	126,842,031 (GRCm39)	missense	probably benign	0.04
R7737:Akap3	UTSW	6	126,851,065 (GRCm39)	missense	probably damaging	1.00
R8073:Akap3	UTSW	6	126,842,736 (GRCm39)	missense	probably damaging	1.00
R8755:Akap3	UTSW	6	126,843,130 (GRCm39)	missense	possibly damaging	0.77
R9440:Akap3	UTSW	6	126,841,591 (GRCm39)	missense	probably benign	0.00
R9579:Akap3	UTSW	6	126,850,974 (GRCm39)	missense	probably damaging	1.00
R9594:Akap3	UTSW	6	126,842,377 (GRCm39)	missense	probably damaging	1.00
R9761:Akap3	UTSW	6	126,842,200 (GRCm39)	missense	probably benign	0.00
X0028:Akap3	UTSW	6	126,842,880 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTAGGATGGTAGCCTTAAAGTGG -3'
(R):5'- CAACATGGGAAATGAGGCCC -3'

Sequencing Primer
(F):5'- AGCCTTAAAGTGGTGTGTCTG -3'
(R):5'- AAATGCAATCTTCCTGGACTGC -3'

Posted On

2020-10-20