Mutagenetix > Incidental Mutation

Incidental Mutation 'R4589:Ap2b1'

342690

Institutional Source

Beutler Lab

Gene Symbol

Ap2b1

Ensembl Gene

ENSMUSG00000035152

Gene Name

adaptor-related protein complex 2, beta 1 subunit

Synonyms

1300012O03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83299024-83405035 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 83333011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 184 (L184*)

Ref Sequence

ENSEMBL: ENSMUSP00000134798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018875] [ENSMUST00000065692] [ENSMUST00000176430] [ENSMUST00000176523] [ENSMUST00000176944]

AlphaFold

Q9DBG3

Predicted Effect

probably null
Transcript: ENSMUST00000018875
AA Change: L184*

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: L184*

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	534	2.6e-173	PFAM
Pfam:HEAT_2	88	157	3.7e-8	PFAM
Pfam:Cnd1	99	268	2.1e-40	PFAM
Pfam:HEAT_2	124	219	1.4e-9	PFAM
low complexity region	625	643	N/A	INTRINSIC
low complexity region	654	675	N/A	INTRINSIC
Alpha_adaptinC2	721	831	2.94e-18	SMART
B2-adapt-app_C	840	950	9.93e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000065692
AA Change: L184*

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: L184*

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	534	4.2e-173	PFAM
Pfam:HEAT_2	88	157	2.7e-8	PFAM
Pfam:Cnd1	99	268	1.5e-37	PFAM
low complexity region	625	643	N/A	INTRINSIC
low complexity region	653	665	N/A	INTRINSIC
Alpha_adaptinC2	707	817	2.94e-18	SMART
B2-adapt-app_C	826	936	9.93e-56	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132178

Predicted Effect

probably null
Transcript: ENSMUST00000176430
AA Change: L184*

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: L184*

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	534	4e-173	PFAM
Pfam:HEAT_2	88	157	2.8e-8	PFAM
Pfam:Cnd1	99	268	1.5e-37	PFAM
low complexity region	625	643	N/A	INTRINSIC
low complexity region	654	675	N/A	INTRINSIC
Alpha_adaptinC2	721	831	2.94e-18	SMART
B2-adapt-app_C	840	936	7.22e-35	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000176523
AA Change: L146*

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: L146*

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	95	1.1e-26	PFAM
Pfam:Cnd1	69	230	1.5e-26	PFAM
Pfam:HEAT_2	85	182	5.1e-9	PFAM
Pfam:Adaptin_N	90	496	4e-125	PFAM
low complexity region	587	605	N/A	INTRINSIC
low complexity region	616	637	N/A	INTRINSIC
Alpha_adaptinC2	683	793	2.94e-18	SMART
B2-adapt-app_C	802	912	9.93e-56	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000176944
AA Change: L184*

SMART Domains

Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152
AA Change: L184*

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	10	199	3.4e-67	PFAM
Pfam:DNA_alkylation	18	196	4.6e-8	PFAM
Pfam:HEAT_2	88	185	3.1e-13	PFAM
Pfam:Cnd1	99	198	4.2e-27	PFAM
Pfam:HEAT	122	151	1.4e-5	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	G	14: 49,773,582	S223P	probably damaging	Het
Abcc1	G	T	16: 14,394,031	V157L	probably benign	Het
Actn1	G	A	12: 80,171,799	T737I	possibly damaging	Het
Ada	T	C	2: 163,732,948	K90E	possibly damaging	Het
Arfgef3	T	C	10: 18,646,199	D693G	probably damaging	Het
Arid4a	A	T	12: 71,069,964	I277F	probably damaging	Het
BC003331	C	T	1: 150,384,487	V127I	probably benign	Het
Ccdc171	A	G	4: 83,549,618	S67G	probably benign	Het
Ccr5	T	A	9: 124,124,502	F47L	probably benign	Het
Clip4	T	A	17: 71,810,867	C302*	probably null	Het
Cyth1	C	T	11: 118,184,985	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,439,742		probably null	Het
Def6	G	T	17: 28,228,147	R584L	probably benign	Het
Dnah7c	C	A	1: 46,514,583	Y340*	probably null	Het
Eif2ak4	T	G	2: 118,417,338	C173W	probably damaging	Het
Gm14403	C	T	2: 177,508,635	H125Y	probably benign	Het
Grk3	T	C	5: 112,941,718	I323V	possibly damaging	Het
Homez	G	T	14: 54,857,030	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,130,628	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,306,484	W305R	unknown	Het
Il27ra	G	T	8: 84,036,409	N296K	probably damaging	Het
Lzic	G	T	4: 149,488,104	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,921,419	V183A	probably damaging	Het
Mme	T	A	3: 63,380,272	D731E	probably benign	Het
Mocos	T	C	18: 24,654,038	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,117,973		probably null	Het
Msh2	T	A	17: 87,680,032	V200D	possibly damaging	Het
Mug1	A	T	6: 121,857,351	I364F	probably benign	Het
Mycbp2	G	T	14: 103,177,313	S2554R	probably benign	Het
Nat10	A	G	2: 103,754,070	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,079,073	D183E	probably damaging	Het
Olfr1162	T	C	2: 88,050,479	I48M	probably benign	Het
Olfr1426	T	C	19: 12,087,941	I284V	possibly damaging	Het
Olfr616	A	T	7: 103,564,432	F282L	probably damaging	Het
Olfr648	C	A	7: 104,179,429		probably null	Het
Pak6	T	A	2: 118,696,540	I672K	probably damaging	Het
Pan3	A	T	5: 147,543,173	I830F	probably damaging	Het
Pcdh9	A	T	14: 93,888,192	L181I	probably damaging	Het
Pigg	G	A	5: 108,332,690	A447T	probably benign	Het
Pitpnb	T	A	5: 111,371,348	S165T	probably damaging	Het
Pla2g2a	A	G	4: 138,833,279	Y67C	probably damaging	Het
Plch1	A	G	3: 63,781,507	I80T	probably damaging	Het
Pnma1	A	G	12: 84,147,461	I156T	probably benign	Het
Prss21	G	T	17: 23,872,822	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,262,331	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,705,647	F78L	probably benign	Het
Riok3	T	A	18: 12,136,787	Y92N	probably benign	Het
Rpap2	T	C	5: 107,620,495	S400P	probably benign	Het
Ryr3	C	A	2: 112,875,133	G792V	probably damaging	Het
Sept3	A	G	15: 82,285,891	E206G	probably damaging	Het
Stkld1	T	C	2: 26,950,667	S454P	probably damaging	Het
Tdh	A	T	14: 63,495,877	L140Q	probably damaging	Het
Tex15	T	A	8: 33,557,373	H159Q	probably damaging	Het
Tmed6	C	T	8: 107,064,161	V85I	probably benign	Het
Vmn1r174	T	A	7: 23,754,779	L290*	probably null	Het
Vmn1r31	A	G	6: 58,472,611	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,670,895	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,356,714	I42F	probably damaging	Het
Vps35	G	A	8: 85,287,702	P106L	probably damaging	Het
Xrcc6	T	A	15: 82,022,460	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,388,470	P388S	probably damaging	Het
Zfp541	C	T	7: 16,083,336	A902V	probably benign	Het

Other mutations in Ap2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00864:Ap2b1	APN	11	83333158	missense	probably damaging	0.99
IGL01583:Ap2b1	APN	11	83324611	missense	possibly damaging	0.61
IGL01753:Ap2b1	APN	11	83321973	missense	probably damaging	1.00
IGL01992:Ap2b1	APN	11	83335530	missense	probably damaging	1.00
IGL02192:Ap2b1	APN	11	83346766	missense	possibly damaging	0.48
IGL02315:Ap2b1	APN	11	83336799	missense	probably damaging	0.96
IGL03235:Ap2b1	APN	11	83341384	missense	probably benign	0.41
P0045:Ap2b1	UTSW	11	83368026	missense	probably damaging	1.00
R0121:Ap2b1	UTSW	11	83321967	missense	possibly damaging	0.66
R0334:Ap2b1	UTSW	11	83367874	splice site	probably benign
R1222:Ap2b1	UTSW	11	83346738	missense	probably benign	0.06
R1297:Ap2b1	UTSW	11	83333109	missense	probably damaging	1.00
R1653:Ap2b1	UTSW	11	83346831	missense	probably damaging	1.00
R1719:Ap2b1	UTSW	11	83324604	missense	probably damaging	1.00
R1885:Ap2b1	UTSW	11	83390735	missense	probably damaging	0.99
R1886:Ap2b1	UTSW	11	83390735	missense	probably damaging	0.99
R1965:Ap2b1	UTSW	11	83346895	missense	probably benign	0.00
R1966:Ap2b1	UTSW	11	83346895	missense	probably benign	0.00
R2046:Ap2b1	UTSW	11	83336386	missense	probably benign	0.14
R2086:Ap2b1	UTSW	11	83351118	missense	possibly damaging	0.88
R2132:Ap2b1	UTSW	11	83324761	splice site	probably benign
R3615:Ap2b1	UTSW	11	83324565	missense	possibly damaging	0.84
R3616:Ap2b1	UTSW	11	83324565	missense	possibly damaging	0.84
R3983:Ap2b1	UTSW	11	83390716	missense	probably damaging	1.00
R4124:Ap2b1	UTSW	11	83365645	critical splice acceptor site	probably null
R4125:Ap2b1	UTSW	11	83365645	critical splice acceptor site	probably null
R4198:Ap2b1	UTSW	11	83342603	missense	probably damaging	1.00
R4202:Ap2b1	UTSW	11	83335604	critical splice donor site	probably null
R4543:Ap2b1	UTSW	11	83324650	missense	probably damaging	1.00
R4583:Ap2b1	UTSW	11	83397779	missense	probably benign	0.00
R4916:Ap2b1	UTSW	11	83390706	missense	probably damaging	1.00
R5005:Ap2b1	UTSW	11	83339392	missense	probably damaging	1.00
R5385:Ap2b1	UTSW	11	83342601	missense	probably damaging	1.00
R5510:Ap2b1	UTSW	11	83336737	splice site	probably null
R5738:Ap2b1	UTSW	11	83336430	splice site	probably null
R6023:Ap2b1	UTSW	11	83335398	missense	probably damaging	0.99
R6269:Ap2b1	UTSW	11	83346673	missense	probably damaging	1.00
R6383:Ap2b1	UTSW	11	83346825	missense	probably damaging	1.00
R6416:Ap2b1	UTSW	11	83308239	start codon destroyed	probably null	1.00
R6502:Ap2b1	UTSW	11	83342679	missense	probably damaging	0.97
R6810:Ap2b1	UTSW	11	83335491	missense	possibly damaging	0.89
R6969:Ap2b1	UTSW	11	83389726	missense	probably damaging	0.99
R7238:Ap2b1	UTSW	11	83333122	missense	possibly damaging	0.91
R7241:Ap2b1	UTSW	11	83351105	missense	probably benign	0.16
R7429:Ap2b1	UTSW	11	83367998	missense	probably benign	0.00
R7588:Ap2b1	UTSW	11	83324522	missense	probably benign	0.00
R7635:Ap2b1	UTSW	11	83389728	missense	probably benign	0.09
R7651:Ap2b1	UTSW	11	83339430	critical splice donor site	probably null
R7753:Ap2b1	UTSW	11	83367907	nonsense	probably null
R8468:Ap2b1	UTSW	11	83351065	missense	probably damaging	1.00
R8943:Ap2b1	UTSW	11	83346753	missense	probably damaging	1.00
R9093:Ap2b1	UTSW	11	83324569	missense	probably damaging	1.00
R9621:Ap2b1	UTSW	11	83402598	missense	probably damaging	1.00
X0064:Ap2b1	UTSW	11	83324569	missense	probably damaging	1.00
Z1177:Ap2b1	UTSW	11	83365753	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCATTGCTGGCTTAGTACCTG -3'
(R):5'- TCAGGCAAGACCATCAGCTG -3'

Sequencing Primer
(F):5'- ACCTGTTTTGAAGGCAGCC -3'
(R):5'- GCTGATACCCACATAGGTAGACTG -3'

Posted On

2015-09-24