Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02192:Ap2b1'

283908

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02192

Quality Score

Status

Chromosome

Chromosomal Location

83299024-83405035 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83346766 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 552 (T552I)

Ref Sequence

ENSEMBL: ENSMUSP00000070714 (fasta)

Gene Model

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

AlphaFold

Q9DBG3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018875
AA Change: T552I

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: T552I

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

possibly damaging
Transcript: ENSMUST00000065692
AA Change: T552I

PolyPhen 2 Score 0.484 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: T552I

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 benign
Transcript: ENSMUST00000176430
AA Change: T552I

PolyPhen 2 Score 0.330 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: T552I

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 benign
Transcript: ENSMUST00000176523
AA Change: T514I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: T514I

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

Coding Region Coverage

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,898,400	M545K	possibly damaging	Het
Adamtsl1	A	G	4: 86,228,016	E303G	probably damaging	Het
Anxa13	A	T	15: 58,348,780		noncoding transcript	Het
Cars	T	C	7: 143,571,588	S388G	probably damaging	Het
Cdh18	A	T	15: 23,460,316	D544V	probably damaging	Het
Chat	T	C	14: 32,423,322	R377G	possibly damaging	Het
Col14a1	A	G	15: 55,362,402	T154A	unknown	Het
Col9a1	C	T	1: 24,221,987	P311S	probably damaging	Het
Cpsf3	G	T	12: 21,310,193		probably benign	Het
Cpsf3	G	T	12: 21,310,196		probably null	Het
Dock8	T	C	19: 25,078,205		probably null	Het
Eml6	A	G	11: 29,805,743	I837T	probably benign	Het
Epb41	T	C	4: 131,929,717	T792A	probably damaging	Het
Exph5	A	T	9: 53,376,325	R1569*	probably null	Het
F13b	A	T	1: 139,517,333	T574S	probably damaging	Het
Fam160a1	A	G	3: 85,673,326	L524P	possibly damaging	Het
Fam184b	G	T	5: 45,537,720	D727E	probably benign	Het
Fhod3	T	C	18: 25,056,358	L619P	probably damaging	Het
Fsd1l	A	G	4: 53,647,754	I66V	probably benign	Het
Fv1	A	G	4: 147,870,255	D426G	possibly damaging	Het
Gm3371	A	T	14: 44,403,778		probably benign	Het
Hnf1a	A	T	5: 114,960,118	S142T	probably damaging	Het
Itgb3	A	G	11: 104,643,939	I541V	probably benign	Het
Itgbl1	G	T	14: 123,843,926	C239F	probably damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Larp1b	G	T	3: 40,967,494	S116I	probably benign	Het
Lmtk3	A	G	7: 45,794,509		probably benign	Het
Mapk10	T	C	5: 102,989,647	I235V	probably damaging	Het
Mctp1	C	T	13: 76,731,768		probably benign	Het
Megf8	G	A	7: 25,353,860	D1819N	probably damaging	Het
Muc6	T	C	7: 141,637,804	T2254A	possibly damaging	Het
Nbr1	T	A	11: 101,569,591	S444T	probably damaging	Het
Ncor2	A	T	5: 125,024,237	D1956E	probably damaging	Het
Ndufaf5	T	C	2: 140,188,743	V183A	probably benign	Het
Nfasc	G	A	1: 132,570,481	T1155M	probably damaging	Het
Nol12	A	G	15: 78,937,174	E78G	probably damaging	Het
Npy5r	T	A	8: 66,681,346	H265L	probably benign	Het
Olfr1008	G	A	2: 85,690,128	G233D	possibly damaging	Het
Olfr418	T	A	1: 173,270,850	L225H	probably damaging	Het
Pop1	A	G	15: 34,529,071	E749G	probably benign	Het
Ppil3	T	C	1: 58,438,388	I66V	probably damaging	Het
Prl4a1	C	A	13: 28,018,571	T43K	possibly damaging	Het
Prop1	A	G	11: 50,953,286		probably benign	Het
Qrsl1	A	T	10: 43,885,014	I218N	probably damaging	Het
Rbm22	T	A	18: 60,564,412	M63K	possibly damaging	Het
Rictor	T	C	15: 6,786,414	S1056P	probably benign	Het
Rps6kb2	T	C	19: 4,157,588	T388A	probably damaging	Het
Slc7a5	A	G	8: 121,886,390		probably benign	Het
Sp100	A	T	1: 85,708,001	D509V	probably damaging	Het
Spata18	G	T	5: 73,672,518		probably null	Het
Sspo	C	A	6: 48,459,568	T1254K	possibly damaging	Het
Stk19	A	G	17: 34,832,158		probably benign	Het
Taar8b	T	A	10: 24,091,364	I311F	probably damaging	Het
Themis2	C	A	4: 132,783,347		probably null	Het
Tll2	T	C	19: 41,086,263	Y937C	possibly damaging	Het
Trim34a	T	A	7: 104,247,732	M1K	probably null	Het
Usp50	G	A	2: 126,778,038	T118I	possibly damaging	Het
Vps13d	G	A	4: 145,148,858	S1693F	probably benign	Het
Vps16	T	A	2: 130,440,932	I467N	probably damaging	Het
Zfp318	C	T	17: 46,396,810	R265*	probably null	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
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
R4589:Ap2b1	UTSW	11	83333011	nonsense	probably null
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

Posted On

2015-04-16