Mutagenetix > Incidental Mutation

Incidental Mutation 'R7651:Ap2b1'

590864

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 #

R7651 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83299024-83405035 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 83339430 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000018875 (fasta)

Gene Model

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

AlphaFold

Q9DBG3

Predicted Effect

probably null
Transcript: ENSMUST00000018875

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152

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: ENSMUST00000018875

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152

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: ENSMUST00000018875

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152

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

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152

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: ENSMUST00000065692

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152

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: ENSMUST00000065692

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152

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

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152

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: ENSMUST00000176430

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152

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: ENSMUST00000176430

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152

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

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 null
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 null
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	G	11: 58,293,362	V302G		Het
A230072I06Rik	T	C	8: 12,279,689	I48T	unknown	Het
A430089I19Rik	T	C	5: 94,303,377	T297A	probably benign	Het
Ada	T	A	2: 163,732,355	D127V	probably damaging	Het
Alb	G	C	5: 90,467,355	R242P	probably damaging	Het
Ankrd34c	T	C	9: 89,729,410	R293G	possibly damaging	Het
Arhgef16	A	G	4: 154,291,067	S157P	probably damaging	Het
Atp2b1	C	T	10: 99,016,968	L1036F	probably damaging	Het
Ccdc27	A	T	4: 154,028,099	I573N	probably damaging	Het
Cep164	T	C	9: 45,773,852	E869G	probably benign	Het
Colq	A	T	14: 31,528,335	V381D	possibly damaging	Het
Drc1	A	G	5: 30,359,614	E519G	probably benign	Het
Drosha	G	A	15: 12,859,436	V577I	probably benign	Het
Epg5	C	T	18: 77,981,400	Q1157*	probably null	Het
Eqtn	T	C	4: 94,923,707	S150G	possibly damaging	Het
Fam216a	G	A	5: 122,367,382	H172Y	probably damaging	Het
Fbxw19	T	A	9: 109,494,646	D87V	probably damaging	Het
Fgr	A	T	4: 132,995,013	I198F	probably damaging	Het
Flnc	A	G	6: 29,444,050	D621G	probably benign	Het
Flt3	A	C	5: 147,354,922	Y573D	probably damaging	Het
Git2	A	T	5: 114,733,235	I603N	probably damaging	Het
Gm4559	C	T	7: 142,273,816	R183K	unknown	Het
Gnb5	T	C	9: 75,343,571	F326L	probably damaging	Het
Grm8	A	T	6: 27,760,258	W358R	possibly damaging	Het
Grrp1	C	T	4: 134,251,648	R173H	probably damaging	Het
Hoxa3	A	G	6: 52,172,273	V126A	unknown	Het
Hras	T	C	7: 141,192,151	T144A	possibly damaging	Het
Hyal1	G	A	9: 107,578,370	R293H	probably damaging	Het
Ifnlr1	A	G	4: 135,690,608	S49G	possibly damaging	Het
Ighv8-11	C	A	12: 115,567,385	C41F	probably benign	Het
Jakmip1	A	G	5: 37,134,273	T689A	probably damaging	Het
Kcnb1	T	C	2: 167,188,361	H88R	probably damaging	Het
Kcnt2	T	A	1: 140,570,461	M892K	probably benign	Het
Lrba	C	A	3: 86,741,466	S2507*	probably null	Het
Mbp	C	T	18: 82,554,374	T65I	probably damaging	Het
Muc2	A	T	7: 141,704,201	Y12F		Het
Muc4	T	A	16: 32,756,575	S80T		Het
Muc5ac	A	G	7: 141,796,254	D579G	possibly damaging	Het
Muc5b	A	G	7: 141,864,023	T3569A	possibly damaging	Het
Myb	C	T	10: 21,156,374	R36H	probably damaging	Het
Myo6	T	C	9: 80,264,266		probably null	Het
Ogfod1	T	C	8: 94,037,353	V22A	probably benign	Het
Orai3	A	G	7: 127,774,064	I246V	probably damaging	Het
Otog	A	G	7: 46,241,761	M68V	probably benign	Het
Pcdh20	T	A	14: 88,469,153	D237V	probably damaging	Het
Pcdhb18	T	C	18: 37,490,993	F459L	probably benign	Het
Pik3c2g	C	T	6: 139,622,072	T62M	possibly damaging	Het
Plaa	T	C	4: 94,582,639	Y420C	probably damaging	Het
Ppp1r9b	C	T	11: 95,001,942	A656V	probably benign	Het
Prg4	T	A	1: 150,454,945	E659V	unknown	Het
Prlhr	C	A	19: 60,467,145	A328S	probably benign	Het
Prlr	A	T	15: 10,328,378	D313V	probably benign	Het
Prune2	C	T	19: 17,120,408	T1092I	probably damaging	Het
Psme4	T	A	11: 30,837,334	L1043H	probably damaging	Het
Ptprr	T	C	10: 116,251,179	V521A	probably benign	Het
Rab44	A	T	17: 29,148,205	D703V	unknown	Het
Rpl9-ps1	A	T	11: 83,645,085	Y179*	probably null	Het
Scg3	T	A	9: 75,682,050	N107I	probably benign	Het
Sh3bgrl2	T	C	9: 83,548,472	V5A	possibly damaging	Het
Slc7a12	T	C	3: 14,481,449	V218A	probably benign	Het
Sorcs2	A	G	5: 36,027,978	L918P	probably damaging	Het
Sox1	C	A	8: 12,396,686	A109E	probably damaging	Het
Syne1	T	A	10: 5,205,074	M5622L	probably benign	Het
Syne1	A	T	10: 5,343,416	L1305Q	probably damaging	Het
Tacc2	A	T	7: 130,623,154	H523L	probably benign	Het
Tas1r2	A	T	4: 139,669,627	D788V	probably benign	Het
Tcl1b5	T	A	12: 105,176,435	D7E	possibly damaging	Het
Tesc	A	G	5: 118,056,601	D159G	possibly damaging	Het
Tm2d2	G	T	8: 25,017,300		probably benign	Het
Tnfrsf11a	T	A	1: 105,809,446	C93S	probably damaging	Het
Tnfsf4	T	C	1: 161,417,022	V94A	probably benign	Het
Trav13n-3	T	A	14: 53,337,507	Y69N	probably benign	Het
Utp20	T	C	10: 88,754,595	D2339G	probably benign	Het
Vmn1r225	A	G	17: 20,502,349	I17M	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het
Vmn2r114	G	T	17: 23,291,012	Y831*	probably null	Het
Vmn2r72	T	A	7: 85,751,938	N91I	probably damaging	Het
Zfp846	T	C	9: 20,588,512	S13P	possibly damaging	Het
Zfp934	G	T	13: 62,518,513	N116K	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
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
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'- TGTCTGACTCAGGCAGTGTAC -3'
(R):5'- GCCAAGTATATACTTAAGCTAAGCCTC -3'

Sequencing Primer
(F):5'- ACTCAGGCAGTGTACTTGTATG -3'
(R):5'- AACAGCTGCTATGGTGGCTC -3'

Posted On

2019-10-24