Mutagenetix > Incidental Mutation

Incidental Mutation 'R1448:Akap12'

159060

Institutional Source

Beutler Lab

Gene Symbol

Akap12

Ensembl Gene

ENSMUSG00000038587

Gene Name

A kinase anchor protein 12

Synonyms

Tsga12, Srcs5, SSeCKS

MMRRC Submission

039503-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.100) question?

Stock #

R1448 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

4216380-4309470 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4305475 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 762 (T762A)

Ref Sequence

ENSEMBL: ENSMUSP00000150261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045730] [ENSMUST00000215696]

AlphaFold

Q9WTQ5

Predicted Effect

probably benign
Transcript: ENSMUST00000045730
AA Change: T867A

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035829
Gene: ENSMUSG00000038587
AA Change: T867A

Domain	Start	End	E-Value	Type
low complexity region	30	48	N/A	INTRINSIC
low complexity region	120	132	N/A	INTRINSIC
low complexity region	151	171	N/A	INTRINSIC
low complexity region	187	198	N/A	INTRINSIC
internal_repeat_1	212	279	3.2e-5	PROSPERO
coiled coil region	304	331	N/A	INTRINSIC
low complexity region	387	398	N/A	INTRINSIC
low complexity region	407	424	N/A	INTRINSIC
low complexity region	432	446	N/A	INTRINSIC
low complexity region	497	526	N/A	INTRINSIC
low complexity region	550	561	N/A	INTRINSIC
low complexity region	571	582	N/A	INTRINSIC
Pfam:WSK	591	619	2e-15	PFAM
low complexity region	626	637	N/A	INTRINSIC
low complexity region	673	684	N/A	INTRINSIC
low complexity region	700	711	N/A	INTRINSIC
Pfam:WSK	738	766	2.3e-15	PFAM
Pfam:WSK	779	807	6.2e-11	PFAM
low complexity region	951	973	N/A	INTRINSIC
low complexity region	1050	1065	N/A	INTRINSIC
low complexity region	1177	1187	N/A	INTRINSIC
internal_repeat_1	1197	1265	3.2e-5	PROSPERO
low complexity region	1303	1312	N/A	INTRINSIC
Pfam:RII_binding_1	1501	1518	4.2e-7	PFAM
coiled coil region	1651	1676	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000215696
AA Change: T762A

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216139

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 94.6%
20x: 87.0%

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 is expressed in endothelial cells, cultured fibroblasts, and osteosarcoma cells. It associates with protein kinases A and C and phosphatase, and serves as a scaffold protein in signal transduction. This protein and RII PKA colocalize at the cell periphery. This protein is a cell growth-related protein. Antibodies to this protein can be produced by patients with myasthenia gravis. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knockout allele disrupting all three common isoforms suffer from prostatic hyperplasia and focal dysplasia, and from delayed fertility. Mice homozygous for a gene trap allele exhibit enhanced cardiac function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417H12Rik	T	A	7: 107,223,952 (GRCm39)		probably benign	Het
A1cf	A	T	19: 31,886,196 (GRCm39)	N35I	possibly damaging	Het
Abca2	T	C	2: 25,330,542 (GRCm39)	I1106T	possibly damaging	Het
Abca4	G	A	3: 121,956,577 (GRCm39)		probably null	Het
Adgrv1	T	C	13: 81,581,632 (GRCm39)	D4804G	probably benign	Het
Adk	T	A	14: 21,102,708 (GRCm39)	M1K	probably null	Het
Aff3	T	C	1: 38,230,364 (GRCm39)	N1006D	probably damaging	Het
Atosa	C	G	9: 74,917,456 (GRCm39)	S685*	probably null	Het
Atp12a	T	A	14: 56,623,296 (GRCm39)	M843K	probably damaging	Het
Bbx	T	A	16: 50,086,633 (GRCm39)	K169*	probably null	Het
Bicra	A	T	7: 15,722,284 (GRCm39)	V411E	possibly damaging	Het
Camk1d	A	T	2: 5,366,836 (GRCm39)	Y126*	probably null	Het
Cel	T	C	2: 28,446,338 (GRCm39)	Y511C	probably damaging	Het
Celf4	G	T	18: 25,636,140 (GRCm39)		probably null	Het
Clasp1	A	G	1: 118,436,646 (GRCm39)	N310S	probably benign	Het
Col6a3	T	C	1: 90,709,577 (GRCm39)	K1873R	unknown	Het
Cstf1	A	G	2: 172,217,795 (GRCm39)	D136G	probably damaging	Het
Cwc22	T	A	2: 77,741,899 (GRCm39)	E470D	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Cytip	A	G	2: 58,035,192 (GRCm39)	I168T	probably damaging	Het
D5Ertd579e	A	G	5: 36,760,083 (GRCm39)	L1359P	probably benign	Het
Ddx25	A	C	9: 35,469,034 (GRCm39)	V26G	probably benign	Het
Dennd4a	T	A	9: 64,813,327 (GRCm39)	S1429T	possibly damaging	Het
Dmd	A	G	X: 83,892,306 (GRCm39)	D2990G	probably damaging	Het
Dop1a	C	A	9: 86,424,785 (GRCm39)		probably null	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Fabp6	T	A	11: 43,486,992 (GRCm39)	I112F	probably benign	Het
Fbxw10	T	C	11: 62,738,418 (GRCm39)	V104A	possibly damaging	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Grin3a	T	C	4: 49,702,804 (GRCm39)	Y894C	probably damaging	Het
Hydin	C	T	8: 111,173,217 (GRCm39)	H967Y	probably benign	Het
Ip6k3	T	C	17: 27,364,242 (GRCm39)	K269E	possibly damaging	Het
Jup	T	C	11: 100,274,026 (GRCm39)	K172E	probably damaging	Het
Katnal1	T	C	5: 148,841,486 (GRCm39)	D126G	probably benign	Het
Knl1	A	T	2: 118,898,788 (GRCm39)	K163M	probably damaging	Het
Krt17	C	T	11: 100,148,365 (GRCm39)	E359K	possibly damaging	Het
Lct	T	A	1: 128,235,559 (GRCm39)	I483F	probably damaging	Het
Loxl2	G	A	14: 69,930,489 (GRCm39)	G751D	probably damaging	Het
Ltbp4	G	A	7: 27,006,002 (GRCm39)	R1559C	possibly damaging	Het
Man2c1	T	A	9: 57,042,503 (GRCm39)	D183E	probably benign	Het
Med17	T	C	9: 15,187,139 (GRCm39)		probably null	Het
Mrgpra9	A	C	7: 46,885,561 (GRCm39)	S34R	probably benign	Het
Mrpl44	T	A	1: 79,755,677 (GRCm39)	N94K	probably damaging	Het
Nat8f1	A	G	6: 85,887,924 (GRCm39)	V12A	probably benign	Het
Nr2e3	C	A	9: 59,850,797 (GRCm39)	G354V	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nup155	T	C	15: 8,141,890 (GRCm39)	V94A	probably benign	Het
Or14a256	A	T	7: 86,265,569 (GRCm39)	C95S	probably damaging	Het
Or52h2	C	T	7: 103,839,082 (GRCm39)	V111I	possibly damaging	Het
Or5p76	T	C	7: 108,122,525 (GRCm39)	I211V	probably benign	Het
Or9q2	A	T	19: 13,772,140 (GRCm39)	Y278*	probably null	Het
Pcdhb10	A	T	18: 37,545,556 (GRCm39)	I211F	possibly damaging	Het
Phip	A	C	9: 82,797,476 (GRCm39)	I509S	possibly damaging	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Psme4	T	G	11: 30,802,744 (GRCm39)	L1487R	probably damaging	Het
Ptgdr2	A	G	19: 10,917,857 (GRCm39)	S125G	probably damaging	Het
Ptpro	A	G	6: 137,418,114 (GRCm39)	K126E	probably damaging	Het
Rdh16f2	T	A	10: 127,712,794 (GRCm39)	V264E	probably benign	Het
Ric8b	C	T	10: 84,783,535 (GRCm39)	A131V	possibly damaging	Het
Rock1	A	T	18: 10,070,233 (GRCm39)	I1280N	probably damaging	Het
Rprd2	A	G	3: 95,725,888 (GRCm39)	V59A	possibly damaging	Het
Ruvbl1	T	A	6: 88,444,551 (GRCm39)	C49S	probably benign	Het
Scn2a	A	G	2: 65,514,189 (GRCm39)	N291S	probably benign	Het
Serbp1	T	A	6: 67,254,904 (GRCm39)	H325Q	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Shisal2b	T	C	13: 104,982,470 (GRCm39)	I151V	probably benign	Het
Slitrk3	G	A	3: 72,957,674 (GRCm39)	T366I	probably damaging	Het
Spryd3	A	T	15: 102,026,827 (GRCm39)	H307Q	possibly damaging	Het
Spx	A	T	6: 142,364,239 (GRCm39)	D100V	probably benign	Het
Surf4	A	G	2: 26,814,476 (GRCm39)	F142L	probably damaging	Het
Syne2	T	A	12: 76,067,099 (GRCm39)		probably null	Het
Syne2	T	C	12: 76,098,952 (GRCm39)	M5278T	possibly damaging	Het
Thap12	T	C	7: 98,365,230 (GRCm39)	V466A	probably benign	Het
Thap3	T	C	4: 152,067,673 (GRCm39)	K135R	possibly damaging	Het
Tmem131	G	T	1: 36,866,439 (GRCm39)	D448E	probably benign	Het
Tmem63b	C	G	17: 45,989,904 (GRCm39)	R88P	possibly damaging	Het
Trim43a	G	T	9: 88,464,146 (GRCm39)	C19F	probably damaging	Het
Trp63	C	T	16: 25,707,870 (GRCm39)	P526L	possibly damaging	Het
Ubqln3	T	C	7: 103,791,997 (GRCm39)	D31G	probably damaging	Het
Utp14b	C	A	1: 78,643,162 (GRCm39)	N353K	probably damaging	Het
Vmn1r40	A	G	6: 89,691,558 (GRCm39)	K125R	probably damaging	Het
Vmn2r1	A	G	3: 64,008,734 (GRCm39)	Y471C	probably damaging	Het
Vmn2r13	A	G	5: 109,322,001 (GRCm39)	I232T	probably damaging	Het
Zfp263	A	C	16: 3,564,323 (GRCm39)	E204D	probably benign	Het
Zfp865	A	T	7: 5,032,278 (GRCm39)	K88*	probably null	Het

Other mutations in Akap12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00712:Akap12	APN	10	4,357,164 (GRCm38)	missense	probably benign	0.09
IGL01306:Akap12	APN	10	4,303,273 (GRCm39)	missense	probably benign	0.04
IGL01360:Akap12	APN	10	4,307,537 (GRCm39)	missense	probably benign	0.02
IGL01455:Akap12	APN	10	4,306,886 (GRCm39)	missense	probably damaging	0.99
IGL01458:Akap12	APN	10	4,304,060 (GRCm39)	missense	probably damaging	1.00
IGL01465:Akap12	APN	10	4,306,886 (GRCm39)	missense	probably damaging	0.99
IGL02348:Akap12	APN	10	4,304,722 (GRCm39)	missense	probably damaging	1.00
IGL02425:Akap12	APN	10	4,306,034 (GRCm39)	missense	possibly damaging	0.67
IGL02502:Akap12	APN	10	4,303,163 (GRCm39)	missense	probably damaging	1.00
IGL02736:Akap12	APN	10	4,305,637 (GRCm39)	missense	probably benign
IGL02969:Akap12	APN	10	4,304,864 (GRCm39)	missense	probably damaging	1.00
IGL03345:Akap12	APN	10	4,306,697 (GRCm39)	missense	probably benign	0.42
ANU23:Akap12	UTSW	10	4,303,273 (GRCm39)	missense	probably benign	0.04
FR4976:Akap12	UTSW	10	4,303,837 (GRCm39)	small insertion	probably benign
R0004:Akap12	UTSW	10	4,303,220 (GRCm39)	missense	probably damaging	1.00
R0004:Akap12	UTSW	10	4,303,218 (GRCm39)	missense	possibly damaging	0.56
R0207:Akap12	UTSW	10	4,303,333 (GRCm39)	missense	probably damaging	1.00
R0580:Akap12	UTSW	10	4,304,741 (GRCm39)	missense	possibly damaging	0.91
R0675:Akap12	UTSW	10	4,303,315 (GRCm39)	missense	probably benign	0.06
R1248:Akap12	UTSW	10	4,303,847 (GRCm39)	missense	probably benign	0.11
R1338:Akap12	UTSW	10	4,263,773 (GRCm39)	missense	possibly damaging	0.95
R1458:Akap12	UTSW	10	4,303,693 (GRCm39)	missense	probably damaging	1.00
R1521:Akap12	UTSW	10	4,304,804 (GRCm39)	missense	probably benign	0.02
R1585:Akap12	UTSW	10	4,303,640 (GRCm39)	missense	probably benign	0.11
R1725:Akap12	UTSW	10	4,303,942 (GRCm39)	missense	probably damaging	1.00
R1756:Akap12	UTSW	10	4,307,574 (GRCm39)	missense	probably benign	0.04
R1914:Akap12	UTSW	10	4,306,685 (GRCm39)	missense	probably benign	0.01
R1978:Akap12	UTSW	10	4,263,855 (GRCm39)	missense	probably benign	0.06
R2032:Akap12	UTSW	10	4,306,673 (GRCm39)	missense	possibly damaging	0.50
R2041:Akap12	UTSW	10	4,306,489 (GRCm39)	missense	probably benign	0.01
R3009:Akap12	UTSW	10	4,307,891 (GRCm39)	missense	probably benign	0.06
R3872:Akap12	UTSW	10	4,307,590 (GRCm39)	missense	probably benign	0.00
R3874:Akap12	UTSW	10	4,307,590 (GRCm39)	missense	probably benign	0.00
R3875:Akap12	UTSW	10	4,307,590 (GRCm39)	missense	probably benign	0.00
R3944:Akap12	UTSW	10	4,307,347 (GRCm39)	missense	probably benign	0.00
R4612:Akap12	UTSW	10	4,304,456 (GRCm39)	missense	probably damaging	1.00
R4889:Akap12	UTSW	10	4,306,535 (GRCm39)	missense	probably damaging	0.97
R5043:Akap12	UTSW	10	4,305,047 (GRCm39)	missense	probably damaging	1.00
R5176:Akap12	UTSW	10	4,303,947 (GRCm39)	missense	probably benign	0.19
R5278:Akap12	UTSW	10	4,304,792 (GRCm39)	missense	probably benign	0.02
R5320:Akap12	UTSW	10	4,307,291 (GRCm39)	missense	probably benign	0.00
R5443:Akap12	UTSW	10	4,305,576 (GRCm39)	missense	probably damaging	1.00
R5533:Akap12	UTSW	10	4,307,405 (GRCm39)	missense	probably damaging	1.00
R6133:Akap12	UTSW	10	4,305,178 (GRCm39)	missense	probably benign	0.05
R6142:Akap12	UTSW	10	4,263,740 (GRCm39)	splice site	probably null
R6190:Akap12	UTSW	10	4,306,268 (GRCm39)	missense	possibly damaging	0.92
R6458:Akap12	UTSW	10	4,305,148 (GRCm39)	missense	probably damaging	1.00
R6562:Akap12	UTSW	10	4,306,141 (GRCm39)	nonsense	probably null
R6701:Akap12	UTSW	10	4,305,243 (GRCm39)	missense	probably damaging	1.00
R6828:Akap12	UTSW	10	4,304,606 (GRCm39)	missense	probably damaging	0.96
R6991:Akap12	UTSW	10	4,307,122 (GRCm39)	nonsense	probably null
R7023:Akap12	UTSW	10	4,306,895 (GRCm39)	missense	probably benign	0.05
R7102:Akap12	UTSW	10	4,303,226 (GRCm39)	missense	probably damaging	1.00
R7483:Akap12	UTSW	10	4,303,967 (GRCm39)	missense	probably benign	0.00
R7538:Akap12	UTSW	10	4,303,213 (GRCm39)	missense	probably damaging	1.00
R7664:Akap12	UTSW	10	4,303,748 (GRCm39)	missense	probably damaging	1.00
R7704:Akap12	UTSW	10	4,306,082 (GRCm39)	missense	probably damaging	1.00
R8447:Akap12	UTSW	10	4,306,289 (GRCm39)	missense	probably benign	0.32
R8502:Akap12	UTSW	10	4,263,856 (GRCm39)	missense	probably benign	0.22
R8910:Akap12	UTSW	10	4,263,822 (GRCm39)	missense	probably benign
R8946:Akap12	UTSW	10	4,304,368 (GRCm39)	missense	probably damaging	1.00
R9003:Akap12	UTSW	10	4,306,744 (GRCm39)	missense	probably benign	0.32
R9237:Akap12	UTSW	10	4,307,231 (GRCm39)	missense	probably benign
R9347:Akap12	UTSW	10	4,303,640 (GRCm39)	missense	probably benign	0.11
R9428:Akap12	UTSW	10	4,303,409 (GRCm39)	missense	probably damaging	1.00
R9734:Akap12	UTSW	10	4,305,929 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGACCAAGCGCACGGAAGTTC -3'
(R):5'- TTTTCAGTGACCTCTCCAACAGGC -3'

Sequencing Primer
(F):5'- CTCCACCTGGGAGTCATTTAAGAG -3'
(R):5'- TCTCCAACAGGCGGTGTG -3'

Posted On

2014-03-14