Mutagenetix > Incidental Mutation

Incidental Mutation 'R7753:Ap2b1'

597382

Institutional Source

Beutler Lab

Gene Symbol

Ap2b1

Ensembl Gene

ENSMUSG00000035152

Gene Name

adaptor-related protein complex 2, beta 1 subunit

Synonyms

1300012O03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7753 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83299024-83405035 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 83367907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 735 (K735*)

Ref Sequence

ENSEMBL: ENSMUSP00000018875 (fasta)

Gene Model

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

AlphaFold

Q9DBG3

Predicted Effect

probably null
Transcript: ENSMUST00000018875
AA Change: K735*

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: K735*

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: K721*

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: K721*

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

probably null
Transcript: ENSMUST00000176430
AA Change: K735*

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: K735*

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: K697*

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: K697*

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

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,184,107	T1377A	probably damaging	Het
AI661453	G	T	17: 47,467,514	E722*	probably null	Het
Aqp4	T	C	18: 15,399,976	E20G	probably benign	Het
Atp6v1b1	G	T	6: 83,752,458	V117L	probably benign	Het
C1rb	A	G	6: 124,580,431	N509S	probably benign	Het
Cep44	A	G	8: 56,532,807	V350A	probably benign	Het
Cmya5	T	C	13: 93,098,172	Q136R	probably benign	Het
Cntrl	T	C	2: 35,111,679	S32P	probably damaging	Het
Cyp2d12	A	T	15: 82,556,963	E201V	possibly damaging	Het
Cyp4a14	G	T	4: 115,493,664	Q138K	probably damaging	Het
Dapk1	T	C	13: 60,751,193	Y826H	possibly damaging	Het
Dbh	A	G	2: 27,171,436	D294G	probably benign	Het
Ddx10	A	T	9: 53,225,604	L336Q	probably damaging	Het
Dopey1	A	G	9: 86,489,702	T149A	possibly damaging	Het
Epg5	A	G	18: 77,948,345	T86A	possibly damaging	Het
Fam171a1	A	T	2: 3,178,317	Q60L	probably damaging	Het
Farsb	T	A	1: 78,480,103	E41D	probably benign	Het
Frem1	T	C	4: 82,913,980	D1956G	probably benign	Het
Fzd4	T	A	7: 89,407,784	Y346*	probably null	Het
Fzd7	A	T	1: 59,483,482	S175C	probably benign	Het
Gdi2	A	G	13: 3,548,956	T47A	probably benign	Het
Gm8765	A	T	13: 50,701,781	D485V	probably damaging	Het
Gpr155	A	T	2: 73,382,206	H24Q	probably benign	Het
Hdac7	A	T	15: 97,800,761	N638K	possibly damaging	Het
Hdac7	G	T	15: 97,806,488	N515K	probably benign	Het
Hnrnpul2	T	C	19: 8,824,972	V401A	probably damaging	Het
Ifi27l2b	T	A	12: 103,451,260	R223*	probably null	Het
Igkv4-91	T	G	6: 68,768,777	S46R	probably benign	Het
Itk	T	A	11: 46,331,895	L582F	probably damaging	Het
Kcnab2	T	C	4: 152,396,761	I181V	probably benign	Het
Krtap5-2	GCCACAGCCTCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACCACAGCCTCC	GCCACAGCCTCC	7: 142,175,399		probably benign	Het
Lce1m	C	A	3: 93,018,508	G41W	unknown	Het
Mapk10	T	A	5: 103,038,553	K98*	probably null	Het
Mapk8ip2	A	G	15: 89,461,653	E812G	probably damaging	Het
Mlh1	C	A	9: 111,252,863		probably null	Het
Mroh1	A	G	15: 76,433,275	D784G	possibly damaging	Het
Neo1	A	T	9: 58,956,005	D426E	probably benign	Het
Nol4	T	A	18: 23,038,602	M1L	probably benign	Het
Nr1h3	A	G	2: 91,185,025	F338S	probably damaging	Het
Oasl2	A	G	5: 114,905,057	K297E	probably benign	Het
Olfr1030	A	G	2: 85,984,716	N292S	possibly damaging	Het
Olfr1129	A	G	2: 87,575,797	T238A	probably benign	Het
Olfr1306	A	G	2: 111,912,582	I116T	probably benign	Het
Olfr419	C	T	1: 174,250,670	V86I	probably benign	Het
Olfr683	T	C	7: 105,143,800	I164M	probably benign	Het
Osbpl9	T	C	4: 109,133,773	T97A	possibly damaging	Het
P3h2	A	T	16: 25,970,937	Y527N	probably damaging	Het
Papss2	A	T	19: 32,620,179	H9L	probably benign	Het
Pcdha4	C	A	18: 36,953,301	S179Y	possibly damaging	Het
Ppt1	A	T	4: 122,836,338	D28V	possibly damaging	Het
Prkcz	T	A	4: 155,272,968	Q345L	possibly damaging	Het
Prr14l	G	T	5: 32,827,253	L1633I	probably damaging	Het
Prss51	T	A	14: 64,095,927	V13D	possibly damaging	Het
Qrich2	TTGCAACACACCAGGCTGAACTGGACCTTGCTG	TTG	11: 116,457,042		probably benign	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Slc2a7	T	C	4: 150,154,684	I122T	possibly damaging	Het
Sprr3	G	A	3: 92,457,108	P143L	probably benign	Het
Sugct	A	T	13: 17,577,519	S181T	possibly damaging	Het
Syne2	G	A	12: 76,038,923	R141Q	probably benign	Het
Taok1	T	C	11: 77,537,899	I992V	probably benign	Het
Tbc1d21	A	C	9: 58,362,023		probably null	Het
Thada	T	C	17: 84,252,390	D1453G	probably damaging	Het
Thoc5	T	C	11: 4,902,156	L104S	probably damaging	Het
Tln2	T	G	9: 67,395,473	Y72S	probably damaging	Het
Tmem98	A	G	11: 80,814,311	E75G	probably damaging	Het
Tox3	A	G	8: 90,248,932	L357P	probably damaging	Het
Ubr4	T	C	4: 139,470,292	V4492A	unknown	Het
Ulk4	A	G	9: 121,266,512		probably null	Het
Ush2a	A	G	1: 188,443,406	T1234A	probably benign	Het
Usp53	G	A	3: 122,949,238	T683I	probably damaging	Het
Vcan	T	A	13: 89,689,323	I2701F	probably damaging	Het
Vmn2r72	G	A	7: 85,750,626	A405V	probably damaging	Het
Vmn2r96	A	T	17: 18,586,401	T537S	possibly damaging	Het
Vstm2a	G	T	11: 16,263,040	A142S	probably damaging	Het
Zbtb41	A	G	1: 139,447,157	D785G	probably benign	Het
Zfp397	A	T	18: 23,957,072	Q144H	probably benign	Het
Zfp518a	A	T	19: 40,915,805	T1393S	possibly damaging	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
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
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'- ACTTTATTCAGACCTTCTCACATGG -3'
(R):5'- TTCTCCAGAGTCAAGGCAGACAG -3'

Sequencing Primer
(F):5'- CAGACCTTCTCACATGGACTTAG -3'
(R):5'- CCTGAGTTGACTGGAGCACATTC -3'

Posted On

2019-11-26