Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01583:Ap2b1'

91438

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 #

IGL01583

Quality Score

Status

Chromosome

Chromosomal Location

83299024-83405035 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 83324611 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 127 (R127L)

Ref Sequence

ENSEMBL: ENSMUSP00000134779 (fasta)

Gene Model

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

AlphaFold

Q9DBG3

Predicted Effect

probably benign
Transcript: ENSMUST00000018875
AA Change: R127L

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: R127L

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 benign
Transcript: ENSMUST00000065692
AA Change: R127L

PolyPhen 2 Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: R127L

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

possibly damaging
Transcript: ENSMUST00000176430
AA Change: R127L

PolyPhen 2 Score 0.611 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: R127L

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

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152

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 benign
Transcript: ENSMUST00000176944
AA Change: R127L

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152
AA Change: R127L

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	A	T	2: 69,296,409	M329K	possibly damaging	Het
Abce1	G	A	8: 79,693,447	T300M	probably damaging	Het
Acap1	G	A	11: 69,881,677	S536L	probably damaging	Het
Adcy5	C	A	16: 35,283,513		probably benign	Het
Asxl3	T	G	18: 22,516,597	S548A	probably benign	Het
Atm	G	A	9: 53,484,247		probably benign	Het
Cep250	T	C	2: 155,976,149	V807A	probably damaging	Het
Ces1g	T	A	8: 93,306,959	Y445F	probably damaging	Het
Cnksr3	A	G	10: 7,120,512	Y241H	probably benign	Het
Col9a1	T	C	1: 24,185,144	S136P	unknown	Het
Cux2	C	A	5: 121,874,107	G422W	probably damaging	Het
Cyp1a2	A	T	9: 57,682,372	M53K	probably benign	Het
Ddx20	T	C	3: 105,686,670	D123G	probably damaging	Het
Dock4	T	A	12: 40,810,467	L1284*	probably null	Het
Dpp9	A	C	17: 56,211,666	L46R	probably benign	Het
Elavl1	A	T	8: 4,301,699	V139E	probably damaging	Het
Fndc3b	T	C	3: 27,428,995	Y1018C	probably damaging	Het
Fubp1	A	G	3: 152,215,624	N78D	possibly damaging	Het
Fubp3	C	T	2: 31,611,743		probably benign	Het
Gbx2	C	A	1: 89,928,837	R277L	probably damaging	Het
Gm128	T	C	3: 95,240,783	R67G	possibly damaging	Het
Gpc2	T	A	5: 138,275,530	R469W	probably damaging	Het
Ifi30	G	A	8: 70,764,762		probably benign	Het
Kbtbd4	T	C	2: 90,905,908	S88P	probably damaging	Het
Kif23	A	T	9: 61,935,468	Y216N	probably damaging	Het
Lgals4	A	G	7: 28,841,548	D299G	probably damaging	Het
Lmx1b	A	G	2: 33,569,059	S161P	probably benign	Het
Lrcol1	T	A	5: 110,354,578	S107T	probably benign	Het
Lrrc28	A	T	7: 67,545,475		probably null	Het
Ncoa4	T	C	14: 32,172,927	V42A	probably benign	Het
Nkd2	C	T	13: 73,821,480	S277N	probably benign	Het
Nlrp2	A	T	7: 5,337,770	L15Q	probably damaging	Het
Nynrin	T	G	14: 55,870,511	L1025R	probably damaging	Het
Olfr101	C	T	17: 37,299,738	R228H	probably benign	Het
Olfr1134	G	T	2: 87,656,413	C169*	probably null	Het
Piwil4	A	T	9: 14,734,487	F152I	probably damaging	Het
Plod3	T	C	5: 136,996,148	S705P	probably benign	Het
Ppp2r2c	T	A	5: 36,868,822	M1K	probably null	Het
Rgs19	T	C	2: 181,689,453	E129G	probably damaging	Het
Rpap2	T	A	5: 107,620,195	S223T	probably damaging	Het
Shox2	T	C	3: 66,973,771		probably benign	Het
Slc30a4	T	C	2: 122,685,217	I370V	probably benign	Het
Slco1b2	A	G	6: 141,663,672	I269M	possibly damaging	Het
Slco1c1	A	G	6: 141,540,067	Y142C	probably damaging	Het
Slco3a1	T	C	7: 74,284,450	N658S	probably benign	Het
Sos1	A	T	17: 80,433,900	S485R	probably benign	Het
Srpk1	A	G	17: 28,606,317	L127P	probably damaging	Het
St3gal6	T	A	16: 58,493,670		probably benign	Het
Stk4	T	A	2: 164,074,214	M1K	probably null	Het
Tbc1d12	A	G	19: 38,882,732	E313G	probably benign	Het
Tbk1	A	G	10: 121,557,229	I472T	probably benign	Het
Tiam1	G	A	16: 89,789,280	R849W	probably damaging	Het
Tle3	A	G	9: 61,410,025	T381A	probably benign	Het
Tmem82	T	G	4: 141,614,643	T337P	probably benign	Het
Tmprss15	T	C	16: 79,071,261	T220A	probably benign	Het
Ung	A	G	5: 114,137,308	K242E	possibly damaging	Het
Vmn1r211	A	T	13: 22,852,401	M32K	probably benign	Het
Vps13d	T	G	4: 145,045,088	D956A	probably damaging	Het
Wdr64	T	A	1: 175,767,156		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
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
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

2013-12-09