Mutagenetix > Incidental Mutation

Incidental Mutation 'R7436:Akap1'

580568

Institutional Source

Beutler Lab

Gene Symbol

Akap1

Ensembl Gene

ENSMUSG00000018428

Gene Name

A kinase anchor protein 1

Synonyms

DAKAP1, S-AKAP84, AKAP84, AKAP121

MMRRC Submission

045512-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7436 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88721618-88755412 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 88736354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 103 (S103P)

Ref Sequence

ENSEMBL: ENSMUSP00000103536 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018572] [ENSMUST00000107903] [ENSMUST00000107904] [ENSMUST00000143720]

AlphaFold

O08715

Predicted Effect

probably damaging
Transcript: ENSMUST00000018572
AA Change: S103P

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

SMART Domains

Protein: ENSMUSP00000018572
Gene: ENSMUSG00000018428
AA Change: S103P

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
low complexity region	449	462	N/A	INTRINSIC
KH	560	630	1.59e-10	SMART
low complexity region	639	651	N/A	INTRINSIC
TUDOR	710	769	5.32e-12	SMART
low complexity region	778	790	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107903
AA Change: S103P

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

SMART Domains

Protein: ENSMUSP00000103536
Gene: ENSMUSG00000018428
AA Change: S103P

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
low complexity region	449	462	N/A	INTRINSIC
KH	560	630	1.59e-10	SMART
low complexity region	639	651	N/A	INTRINSIC
TUDOR	710	769	5.32e-12	SMART
low complexity region	778	790	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107904
AA Change: S136P

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

SMART Domains

Protein: ENSMUSP00000103537
Gene: ENSMUSG00000018428
AA Change: S136P

Domain	Start	End	E-Value	Type
transmembrane domain	40	59	N/A	INTRINSIC
low complexity region	60	71	N/A	INTRINSIC
low complexity region	482	495	N/A	INTRINSIC
KH	593	663	1.59e-10	SMART
low complexity region	672	684	N/A	INTRINSIC
TUDOR	743	802	5.32e-12	SMART
low complexity region	811	823	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143720
AA Change: S103P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122295
Gene: ENSMUSG00000018428
AA Change: S103P

Domain	Start	End	E-Value	Type
transmembrane domain	7	26	N/A	INTRINSIC
low complexity region	27	38	N/A	INTRINSIC
Pfam:RII_binding_1	305	322	5.5e-5	PFAM
low complexity region	449	462	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153787

SMART Domains

Protein: ENSMUSP00000123018
Gene: ENSMUSG00000018428

Domain	Start	End	E-Value	Type
low complexity region	1	17	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (66/68)

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 type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit reduced female fertility and impaired oocyte maturation. [provided by MGI curators]

Allele List at MGI

All alleles(49) : Targeted(3) Gene trapped(46)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024B05Rik	A	G	14: 41,805,178 (GRCm39)		probably null	Het
2310034C09Rik	A	G	16: 88,556,242 (GRCm39)	Y152C	probably benign	Het
Acads	C	A	5: 115,249,057 (GRCm39)	Q365H	probably damaging	Het
Ampd1	T	A	3: 102,981,435 (GRCm39)		probably null	Het
Apoa1	T	A	9: 46,141,100 (GRCm39)		probably null	Het
Asb16	A	G	11: 102,163,481 (GRCm39)	D157G	possibly damaging	Het
Bank1	T	C	3: 135,761,561 (GRCm39)	N748D	possibly damaging	Het
BC034090	C	A	1: 155,102,127 (GRCm39)	G46W	probably damaging	Het
Ccdc202	A	T	14: 96,120,027 (GRCm39)	K261N	probably benign	Het
Ccdc73	T	A	2: 104,782,214 (GRCm39)	V190E	probably damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyb561a3	A	G	19: 10,559,696 (GRCm39)	Y7C	probably damaging	Het
Cyp2t4	A	T	7: 26,857,668 (GRCm39)	D427V	probably damaging	Het
Cyp4f14	T	C	17: 33,128,131 (GRCm39)	T295A	probably benign	Het
D430041D05Rik	T	C	2: 104,087,447 (GRCm39)	T510A	probably benign	Het
Dennd6a	G	T	14: 26,300,865 (GRCm39)	E26*	probably null	Het
Dusp10	T	C	1: 183,801,418 (GRCm39)	I395T	probably damaging	Het
Dzip3	T	A	16: 48,772,352 (GRCm39)	H439L	probably damaging	Het
Heatr5b	T	A	17: 79,075,962 (GRCm39)	D1452V	probably benign	Het
Hsd3b2	A	G	3: 98,619,112 (GRCm39)	F278L	probably benign	Het
Hspg2	T	A	4: 137,242,975 (GRCm39)	M702K	probably damaging	Het
Hydin	T	C	8: 111,310,546 (GRCm39)	F4081L	probably damaging	Het
Ido1	T	G	8: 25,076,932 (GRCm39)	T209P	probably benign	Het
Ift122	C	T	6: 115,903,263 (GRCm39)	R1176C	probably benign	Het
Ipo8	T	C	6: 148,691,303 (GRCm39)	Y689C	probably benign	Het
Macf1	C	T	4: 123,350,436 (GRCm39)	R3809Q	probably benign	Het
Manea	T	C	4: 26,328,228 (GRCm39)	Y271C	probably damaging	Het
Mroh2b	A	G	15: 4,971,036 (GRCm39)	T1014A	probably benign	Het
Nek5	A	G	8: 22,598,056 (GRCm39)	F200L	probably damaging	Het
Nipal1	A	G	5: 72,824,984 (GRCm39)	I226V	probably benign	Het
Nipsnap3a	A	T	4: 52,994,159 (GRCm39)	N80I	probably damaging	Het
Nmur1	G	A	1: 86,314,100 (GRCm39)	P389S	probably benign	Het
Or10d5	G	T	9: 39,861,349 (GRCm39)	C239*	probably null	Het
Or1p1	T	C	11: 74,179,511 (GRCm39)	L13P	possibly damaging	Het
Or8u10	T	C	2: 85,915,251 (GRCm39)	Y290C	probably damaging	Het
Patl2	A	C	2: 121,958,006 (GRCm39)	V84G	probably benign	Het
Pcdhb4	T	C	18: 37,442,328 (GRCm39)	V546A	probably damaging	Het
Phf20l1	G	T	15: 66,469,599 (GRCm39)	S168I	possibly damaging	Het
Phgdh	T	C	3: 98,247,045 (GRCm39)	N35S	probably benign	Het
Pigw	A	T	11: 84,768,789 (GRCm39)	M180K	probably damaging	Het
Pkhd1	G	T	1: 20,270,925 (GRCm39)	H3209Q	probably benign	Het
Plbd2	A	G	5: 120,624,861 (GRCm39)	F436L	probably damaging	Het
Plch2	T	C	4: 155,068,553 (GRCm39)	T1358A	probably benign	Het
Poll	C	T	19: 45,541,496 (GRCm39)	V491M	probably damaging	Het
Polr1e	A	G	4: 45,024,553 (GRCm39)		probably null	Het
Ppp1r35	G	A	5: 137,778,279 (GRCm39)	W258*	probably null	Het
Ptpdc1	A	T	13: 48,740,142 (GRCm39)	F430I	probably benign	Het
Ptprh	T	C	7: 4,555,742 (GRCm39)	E739G	probably damaging	Het
Ramp2	T	C	11: 101,138,765 (GRCm39)	V148A	possibly damaging	Het
Rapgef6	T	C	11: 54,501,747 (GRCm39)		probably null	Het
Rbm5	A	G	9: 107,627,593 (GRCm39)		probably null	Het
Rnf39	A	T	17: 37,254,241 (GRCm39)	S88C	probably benign	Het
Rpl12	A	G	2: 32,853,836 (GRCm39)	I155V	probably benign	Het
Scart2	A	T	7: 139,841,520 (GRCm39)	T275S	probably benign	Het
Senp5	C	T	16: 31,794,847 (GRCm39)	E596K	unknown	Het
Serpinb9d	A	G	13: 33,379,916 (GRCm39)	Y85C	probably benign	Het
Serpinf1	T	A	11: 75,307,142 (GRCm39)	Y65F	probably benign	Het
Snrnp200	G	A	2: 127,068,404 (GRCm39)		probably null	Het
Spatc1	A	T	15: 76,152,568 (GRCm39)	Q66L	probably benign	Het
Tet3	TGGCCCAGGCCCAGGC	TGGCCCAGGCCCAGGCCCAGGC	6: 83,345,211 (GRCm39)		probably benign	Het
Traf3ip1	A	G	1: 91,439,110 (GRCm39)	D342G	probably benign	Het
Txk	T	A	5: 72,853,922 (GRCm39)	T472S	probably damaging	Het
Ube2j2	T	C	4: 156,041,788 (GRCm39)	V249A	probably damaging	Het
Utrn	A	C	10: 12,315,535 (GRCm39)	N3025K	possibly damaging	Het
Vmn1r17	T	A	6: 57,337,862 (GRCm39)	M168L	probably benign	Het
Vmn1r77	T	A	7: 11,775,694 (GRCm39)	S157T	probably benign	Het
Zfp977	A	G	7: 42,229,884 (GRCm39)	S214P	probably benign	Het
Zscan10	T	C	17: 23,828,979 (GRCm39)	L507P	possibly damaging	Het

Other mutations in Akap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01299:Akap1	APN	11	88,735,080 (GRCm39)	splice site	probably null
IGL01333:Akap1	APN	11	88,736,431 (GRCm39)	missense	probably damaging	0.99
IGL01701:Akap1	APN	11	88,735,958 (GRCm39)	missense	probably benign	0.03
IGL01920:Akap1	APN	11	88,730,459 (GRCm39)	missense	probably damaging	1.00
IGL02980:Akap1	UTSW	11	88,735,990 (GRCm39)	missense	probably benign
PIT4305001:Akap1	UTSW	11	88,735,204 (GRCm39)	missense	probably benign
R0049:Akap1	UTSW	11	88,730,450 (GRCm39)	critical splice donor site	probably null
R0049:Akap1	UTSW	11	88,730,450 (GRCm39)	critical splice donor site	probably null
R0278:Akap1	UTSW	11	88,736,020 (GRCm39)	missense	probably benign	0.19
R1437:Akap1	UTSW	11	88,735,577 (GRCm39)	nonsense	probably null
R1438:Akap1	UTSW	11	88,735,577 (GRCm39)	nonsense	probably null
R1439:Akap1	UTSW	11	88,735,577 (GRCm39)	nonsense	probably null
R1569:Akap1	UTSW	11	88,724,006 (GRCm39)	missense	probably benign	0.02
R1611:Akap1	UTSW	11	88,736,104 (GRCm39)	missense	probably benign	0.27
R1757:Akap1	UTSW	11	88,736,578 (GRCm39)	missense	probably damaging	1.00
R2328:Akap1	UTSW	11	88,735,870 (GRCm39)	missense	possibly damaging	0.46
R2897:Akap1	UTSW	11	88,735,605 (GRCm39)	nonsense	probably null
R3730:Akap1	UTSW	11	88,736,008 (GRCm39)	missense	possibly damaging	0.82
R4868:Akap1	UTSW	11	88,735,379 (GRCm39)	missense	possibly damaging	0.83
R5620:Akap1	UTSW	11	88,736,343 (GRCm39)	missense	possibly damaging	0.82
R5645:Akap1	UTSW	11	88,736,453 (GRCm39)	missense	probably benign	0.01
R5886:Akap1	UTSW	11	88,725,486 (GRCm39)	critical splice donor site	probably null
R5932:Akap1	UTSW	11	88,722,585 (GRCm39)	missense	probably damaging	1.00
R6284:Akap1	UTSW	11	88,735,394 (GRCm39)	missense	possibly damaging	0.66
R6555:Akap1	UTSW	11	88,735,708 (GRCm39)	missense	probably damaging	1.00
R7234:Akap1	UTSW	11	88,729,808 (GRCm39)	missense	probably damaging	1.00
R7759:Akap1	UTSW	11	88,736,659 (GRCm39)	missense	probably damaging	1.00
R8356:Akap1	UTSW	11	88,725,557 (GRCm39)	critical splice acceptor site	probably null
R8456:Akap1	UTSW	11	88,725,557 (GRCm39)	critical splice acceptor site	probably null
R8796:Akap1	UTSW	11	88,730,498 (GRCm39)	missense	probably damaging	1.00
R8948:Akap1	UTSW	11	88,735,099 (GRCm39)	missense	probably damaging	1.00
R9006:Akap1	UTSW	11	88,723,996 (GRCm39)	missense	possibly damaging	0.83
R9116:Akap1	UTSW	11	88,723,165 (GRCm39)	missense	probably damaging	1.00
R9174:Akap1	UTSW	11	88,725,991 (GRCm39)	missense	probably damaging	1.00
R9294:Akap1	UTSW	11	88,727,966 (GRCm39)	missense	probably damaging	1.00
Z1176:Akap1	UTSW	11	88,727,993 (GRCm39)	missense	probably benign	0.18

Predicted Primers

PCR Primer
(F):5'- ACCTTTCCACTGCTTCATAGGG -3'
(R):5'- CAATCCAGTTGCGTTCGCTC -3'

Sequencing Primer
(F):5'- TCCACTGCTTCATAGGGGAAGG -3'
(R):5'- AGACACTGAAGGTTGGCCCTG -3'

Posted On

2019-10-07