Mutagenetix > Incidental Mutation

Incidental Mutation 'R4583:Ap2b1'

343852

Institutional Source

Beutler Lab

Gene Symbol

Ap2b1

Ensembl Gene

ENSMUSG00000035152

Gene Name

adaptor-related protein complex 2, beta 1 subunit

Synonyms

1300012O03Rik

MMRRC Submission

041804-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4583 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83189850-83295861 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83288605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 884 (N884I)

Ref Sequence

ENSEMBL: ENSMUSP00000134779 (fasta)

Gene Model

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

AlphaFold

Q9DBG3

Predicted Effect

probably benign
Transcript: ENSMUST00000018875
AA Change: N884I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: N884I

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: N870I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: N870I

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 benign
Transcript: ENSMUST00000176430
AA Change: N884I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: N884I

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: N846I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: N846I

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: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	C	7: 27,274,017 (GRCm39)	L86P	unknown	Het
Aimp1	C	T	3: 132,382,808 (GRCm39)	E23K	probably damaging	Het
Apoe	G	T	7: 19,431,423 (GRCm39)	Q65K	possibly damaging	Het
Arhgef1	T	A	7: 24,611,996 (GRCm39)	D93E	probably benign	Het
Arhgef12	G	T	9: 42,888,958 (GRCm39)	T1085K	probably damaging	Het
Arid5a	T	C	1: 36,356,745 (GRCm39)		probably null	Het
Atp9a	A	T	2: 168,531,280 (GRCm39)		probably null	Het
Baz1a	T	C	12: 54,969,325 (GRCm39)	I635V	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Cckar	T	A	5: 53,857,124 (GRCm39)	M429L	probably benign	Het
Ccl3	A	T	11: 83,539,164 (GRCm39)	L65Q	probably benign	Het
Ccr3	A	G	9: 123,829,477 (GRCm39)	T271A	probably benign	Het
Cd8b1	T	A	6: 71,303,081 (GRCm39)	I52N	probably damaging	Het
Cdh15	G	A	8: 123,591,767 (GRCm39)	E551K	probably damaging	Het
Cdh17	A	G	4: 11,810,466 (GRCm39)	K719R	probably benign	Het
Cfap43	T	C	19: 47,825,655 (GRCm39)	R38G	probably null	Het
Chd6	T	C	2: 160,856,114 (GRCm39)	E715G	probably damaging	Het
Cldn34b2	T	A	X: 153,908,625 (GRCm39)	R68*	probably null	Het
Col19a1	T	G	1: 24,600,410 (GRCm39)	D44A	unknown	Het
Colgalt2	C	T	1: 152,382,627 (GRCm39)	S493F	probably damaging	Het
Cr1l	T	C	1: 194,812,139 (GRCm39)	I99M	probably damaging	Het
Crybg1	T	C	10: 43,873,616 (GRCm39)	E1164G	probably damaging	Het
Cym	G	T	3: 107,118,718 (GRCm39)	D367E	probably damaging	Het
Dennd2a	G	T	6: 39,499,776 (GRCm39)	T263K	probably damaging	Het
Dhx9	T	A	1: 153,336,049 (GRCm39)	M869L	probably damaging	Het
Dnm2	A	G	9: 21,415,742 (GRCm39)	H692R	probably damaging	Het
Ern1	A	T	11: 106,298,031 (GRCm39)	S697T	probably damaging	Het
F12	G	A	13: 55,568,943 (GRCm39)	T273I	probably benign	Het
Fam151b	A	T	13: 92,604,617 (GRCm39)	L124Q	probably damaging	Het
Fancg	A	G	4: 43,002,991 (GRCm39)	V622A	probably benign	Het
Fbxo2	T	A	4: 148,249,356 (GRCm39)	N159K	possibly damaging	Het
Fgd2	C	A	17: 29,586,052 (GRCm39)	T212K	possibly damaging	Het
Fhl3	T	A	4: 124,601,342 (GRCm39)	D178E	probably benign	Het
Filip1	G	T	9: 79,723,091 (GRCm39)	A1176D	possibly damaging	Het
Fndc1	T	C	17: 7,958,081 (GRCm39)	Y1722C	probably damaging	Het
Frem3	T	C	8: 81,340,143 (GRCm39)	V812A	probably benign	Het
Fsip2	A	G	2: 82,809,017 (GRCm39)	I1779V	probably benign	Het
Gli2	C	T	1: 118,769,798 (GRCm39)	V585I	probably benign	Het
Gm15056	C	G	8: 21,390,697 (GRCm39)	S80T	probably benign	Het
Gm5145	A	G	17: 20,790,715 (GRCm39)	E31G	probably benign	Het
Gmfg	A	G	7: 28,145,369 (GRCm39)	Y71C	probably damaging	Het
Grk1	A	G	8: 13,459,322 (GRCm39)	E291G	probably damaging	Het
Gtpbp1	A	G	15: 79,600,152 (GRCm39)	E393G	possibly damaging	Het
Gtpbp2	A	G	17: 46,472,071 (GRCm39)	D2G	probably damaging	Het
Hc	A	T	2: 34,918,189 (GRCm39)	V698E	probably benign	Het
Helz	G	A	11: 107,536,895 (GRCm39)	R249H	probably damaging	Het
Hmcn2	A	G	2: 31,303,277 (GRCm39)	I2973V	possibly damaging	Het
Hnrnpa3	A	G	2: 75,493,950 (GRCm39)	R286G	probably benign	Het
Hus1b	A	T	13: 31,131,501 (GRCm39)	W53R	probably damaging	Het
Hydin	C	T	8: 111,321,857 (GRCm39)	T4503I	probably benign	Het
Ighmbp2	G	C	19: 3,315,324 (GRCm39)	P699A	probably benign	Het
Igkv1-122	A	T	6: 67,994,442 (GRCm39)	Y110F	probably benign	Het
Igkv8-28	T	C	6: 70,120,604 (GRCm39)	Y113C	probably damaging	Het
Iigp1c	T	C	18: 60,379,152 (GRCm39)	I229T	possibly damaging	Het
Il16	A	G	7: 83,332,107 (GRCm39)	S158P	probably damaging	Het
Kalrn	T	A	16: 34,055,637 (GRCm39)	H876L	probably damaging	Het
Kdm5d	T	A	Y: 914,134 (GRCm39)	L357H	probably damaging	Het
Krt78	T	C	15: 101,855,055 (GRCm39)	T919A	possibly damaging	Het
L3mbtl2	T	C	15: 81,569,107 (GRCm39)	C594R	probably damaging	Het
Lcorl	A	T	5: 45,890,931 (GRCm39)	L474*	probably null	Het
Lgals3	A	T	14: 47,619,144 (GRCm39)		probably null	Het
Lnx1	C	T	5: 74,771,457 (GRCm39)	V350I	probably benign	Het
Lpcat3	T	G	6: 124,680,286 (GRCm39)	W429G	possibly damaging	Het
Lrp1	T	C	10: 127,377,241 (GRCm39)	T4149A	probably benign	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Mical2	A	G	7: 112,012,154 (GRCm39)	N668S	probably benign	Het
Ms4a10	A	T	19: 10,945,553 (GRCm39)	I76N	possibly damaging	Het
Mthfr	T	G	4: 148,136,329 (GRCm39)	L362V	possibly damaging	Het
Myh3	T	A	11: 66,987,279 (GRCm39)	Y1376*	probably null	Het
Mymk	C	A	2: 26,952,292 (GRCm39)	V192F	probably benign	Het
Myo1c	A	G	11: 75,562,688 (GRCm39)	D966G	possibly damaging	Het
Ncam2	A	G	16: 81,314,445 (GRCm39)	N474D	probably damaging	Het
Nmnat1	T	C	4: 149,553,608 (GRCm39)	N168S	possibly damaging	Het
Nmur1	C	T	1: 86,314,367 (GRCm39)	V323M	possibly damaging	Het
Npr2	C	A	4: 43,633,522 (GRCm39)		probably null	Het
Nsd3	T	A	8: 26,200,703 (GRCm39)	M1265K	probably benign	Het
Or13c7	A	G	4: 43,855,262 (GRCm39)	T318A	probably benign	Het
Or1e34	T	C	11: 73,778,629 (GRCm39)	T190A	probably damaging	Het
Or1j16	A	C	2: 36,530,626 (GRCm39)	T192P	probably damaging	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or4c11	G	T	2: 88,695,838 (GRCm39)	M296I	probably benign	Het
Or5b108	T	A	19: 13,168,062 (GRCm39)	F10L	probably damaging	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Or6c216	T	C	10: 129,678,344 (GRCm39)	D189G	probably damaging	Het
Otub1	G	A	19: 7,181,801 (GRCm39)	A25V	possibly damaging	Het
Paqr3	T	A	5: 97,256,069 (GRCm39)	R102*	probably null	Het
Patl2	A	G	2: 121,957,226 (GRCm39)	S103P	probably benign	Het
Pcdhb15	A	T	18: 37,608,628 (GRCm39)	H620L	possibly damaging	Het
Pdgfc	A	T	3: 81,048,835 (GRCm39)	D81V	possibly damaging	Het
Pdia2	T	C	17: 26,415,476 (GRCm39)	D447G	probably damaging	Het
Pold1	C	A	7: 44,188,337 (GRCm39)	A514S	probably damaging	Het
Pomgnt1	C	T	4: 116,015,691 (GRCm39)	T552I	probably benign	Het
Ppl	T	C	16: 4,922,400 (GRCm39)	E294G	probably benign	Het
Pramel12	A	G	4: 143,143,324 (GRCm39)	Y30C	probably damaging	Het
Prkcb	A	G	7: 122,056,447 (GRCm39)	S100G	probably benign	Het
Psg16	T	G	7: 16,829,097 (GRCm39)	I227S	probably benign	Het
Rbbp6	AAAGAAGAAGAAGAAGAAG	AAAGAAGAAGAAGAAG	7: 122,601,175 (GRCm39)		probably benign	Het
Reck	T	C	4: 43,931,062 (GRCm39)		probably null	Het
Rrbp1	C	T	2: 143,830,671 (GRCm39)	G499S	probably benign	Het
Sema6d	G	T	2: 124,506,082 (GRCm39)	R630L	probably damaging	Het
Slc29a1	A	G	17: 45,900,882 (GRCm39)	V94A	possibly damaging	Het
Slc35a1	T	A	4: 34,664,146 (GRCm39)	Q324L	probably benign	Het
Slc35c1	A	T	2: 92,289,266 (GRCm39)	L80Q	probably damaging	Het
Slc7a10	G	T	7: 34,897,377 (GRCm39)		probably null	Het
Srrm2	C	T	17: 24,038,593 (GRCm39)		probably benign	Het
Stk38	T	G	17: 29,201,130 (GRCm39)	D182A	probably damaging	Het
Tas2r104	C	T	6: 131,662,398 (GRCm39)	G104S	probably benign	Het
Tmem121b	T	C	6: 120,469,055 (GRCm39)	E554G	probably damaging	Het
Tor1aip2	A	G	1: 155,940,888 (GRCm39)	H398R	probably benign	Het
Tram2	C	T	1: 21,083,673 (GRCm39)	V83I	probably benign	Het
Ube3a	C	T	7: 58,935,811 (GRCm39)	T565I	probably damaging	Het
Ubr4	T	C	4: 139,108,164 (GRCm39)	V56A	possibly damaging	Het
Vmn1r128	T	C	7: 21,083,644 (GRCm39)	V116A	possibly damaging	Het
Vmn1r170	C	T	7: 23,306,087 (GRCm39)	T163I	probably benign	Het
Vmn2r75	T	A	7: 85,813,290 (GRCm39)	D504V	possibly damaging	Het
Vps36	G	A	8: 22,708,436 (GRCm39)	M363I	probably benign	Het
Wdsub1	A	G	2: 59,708,661 (GRCm39)	S71P	probably damaging	Het
Zdhhc12	A	G	2: 29,981,496 (GRCm39)	F189L	probably benign	Het
Zfp521	T	C	18: 13,977,387 (GRCm39)	M1009V	probably benign	Het

Other mutations in Ap2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00864:Ap2b1	APN	11	83,223,984 (GRCm39)	missense	probably damaging	0.99
IGL01583:Ap2b1	APN	11	83,215,437 (GRCm39)	missense	possibly damaging	0.61
IGL01753:Ap2b1	APN	11	83,212,799 (GRCm39)	missense	probably damaging	1.00
IGL01992:Ap2b1	APN	11	83,226,356 (GRCm39)	missense	probably damaging	1.00
IGL02192:Ap2b1	APN	11	83,237,592 (GRCm39)	missense	possibly damaging	0.48
IGL02315:Ap2b1	APN	11	83,227,625 (GRCm39)	missense	probably damaging	0.96
IGL03235:Ap2b1	APN	11	83,232,210 (GRCm39)	missense	probably benign	0.41
P0045:Ap2b1	UTSW	11	83,258,852 (GRCm39)	missense	probably damaging	1.00
R0121:Ap2b1	UTSW	11	83,212,793 (GRCm39)	missense	possibly damaging	0.66
R0334:Ap2b1	UTSW	11	83,258,700 (GRCm39)	splice site	probably benign
R1222:Ap2b1	UTSW	11	83,237,564 (GRCm39)	missense	probably benign	0.06
R1297:Ap2b1	UTSW	11	83,223,935 (GRCm39)	missense	probably damaging	1.00
R1653:Ap2b1	UTSW	11	83,237,657 (GRCm39)	missense	probably damaging	1.00
R1719:Ap2b1	UTSW	11	83,215,430 (GRCm39)	missense	probably damaging	1.00
R1885:Ap2b1	UTSW	11	83,281,561 (GRCm39)	missense	probably damaging	0.99
R1886:Ap2b1	UTSW	11	83,281,561 (GRCm39)	missense	probably damaging	0.99
R1965:Ap2b1	UTSW	11	83,237,721 (GRCm39)	missense	probably benign	0.00
R1966:Ap2b1	UTSW	11	83,237,721 (GRCm39)	missense	probably benign	0.00
R2046:Ap2b1	UTSW	11	83,227,212 (GRCm39)	missense	probably benign	0.14
R2086:Ap2b1	UTSW	11	83,241,944 (GRCm39)	missense	possibly damaging	0.88
R2132:Ap2b1	UTSW	11	83,215,587 (GRCm39)	splice site	probably benign
R3615:Ap2b1	UTSW	11	83,215,391 (GRCm39)	missense	possibly damaging	0.84
R3616:Ap2b1	UTSW	11	83,215,391 (GRCm39)	missense	possibly damaging	0.84
R3983:Ap2b1	UTSW	11	83,281,542 (GRCm39)	missense	probably damaging	1.00
R4124:Ap2b1	UTSW	11	83,256,471 (GRCm39)	critical splice acceptor site	probably null
R4125:Ap2b1	UTSW	11	83,256,471 (GRCm39)	critical splice acceptor site	probably null
R4198:Ap2b1	UTSW	11	83,233,429 (GRCm39)	missense	probably damaging	1.00
R4202:Ap2b1	UTSW	11	83,226,430 (GRCm39)	critical splice donor site	probably null
R4543:Ap2b1	UTSW	11	83,215,476 (GRCm39)	missense	probably damaging	1.00
R4589:Ap2b1	UTSW	11	83,223,837 (GRCm39)	nonsense	probably null
R4916:Ap2b1	UTSW	11	83,281,532 (GRCm39)	missense	probably damaging	1.00
R5005:Ap2b1	UTSW	11	83,230,218 (GRCm39)	missense	probably damaging	1.00
R5385:Ap2b1	UTSW	11	83,233,427 (GRCm39)	missense	probably damaging	1.00
R5510:Ap2b1	UTSW	11	83,227,563 (GRCm39)	splice site	probably null
R5738:Ap2b1	UTSW	11	83,227,256 (GRCm39)	splice site	probably null
R6023:Ap2b1	UTSW	11	83,226,224 (GRCm39)	missense	probably damaging	0.99
R6269:Ap2b1	UTSW	11	83,237,499 (GRCm39)	missense	probably damaging	1.00
R6383:Ap2b1	UTSW	11	83,237,651 (GRCm39)	missense	probably damaging	1.00
R6416:Ap2b1	UTSW	11	83,199,065 (GRCm39)	start codon destroyed	probably null	1.00
R6502:Ap2b1	UTSW	11	83,233,505 (GRCm39)	missense	probably damaging	0.97
R6810:Ap2b1	UTSW	11	83,226,317 (GRCm39)	missense	possibly damaging	0.89
R6969:Ap2b1	UTSW	11	83,280,552 (GRCm39)	missense	probably damaging	0.99
R7238:Ap2b1	UTSW	11	83,223,948 (GRCm39)	missense	possibly damaging	0.91
R7241:Ap2b1	UTSW	11	83,241,931 (GRCm39)	missense	probably benign	0.16
R7429:Ap2b1	UTSW	11	83,258,824 (GRCm39)	missense	probably benign	0.00
R7588:Ap2b1	UTSW	11	83,215,348 (GRCm39)	missense	probably benign	0.00
R7635:Ap2b1	UTSW	11	83,280,554 (GRCm39)	missense	probably benign	0.09
R7651:Ap2b1	UTSW	11	83,230,256 (GRCm39)	critical splice donor site	probably null
R7753:Ap2b1	UTSW	11	83,258,733 (GRCm39)	nonsense	probably null
R8468:Ap2b1	UTSW	11	83,241,891 (GRCm39)	missense	probably damaging	1.00
R8943:Ap2b1	UTSW	11	83,237,579 (GRCm39)	missense	probably damaging	1.00
R9093:Ap2b1	UTSW	11	83,215,395 (GRCm39)	missense	probably damaging	1.00
R9621:Ap2b1	UTSW	11	83,293,424 (GRCm39)	missense	probably damaging	1.00
X0064:Ap2b1	UTSW	11	83,215,395 (GRCm39)	missense	probably damaging	1.00
Z1177:Ap2b1	UTSW	11	83,256,579 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTGCCTGTATCAGAAGAAGC -3'
(R):5'- TCTCCAGGTCTCTGTAGTACAC -3'

Sequencing Primer
(F):5'- CTGCCTGTATCAGAAGAAGCTCTGG -3'
(R):5'- CTCCAGGTCTCTGTAGTACACTAAAG -3'

Posted On

2015-09-24