Mutagenetix > Incidental Mutation

Incidental Mutation 'R2132:Ap2b1'

233429

Institutional Source

Beutler Lab

Gene Symbol

Ap2b1

Ensembl Gene

ENSMUSG00000035152

Gene Name

adaptor-related protein complex 2, beta 1 subunit

Synonyms

1300012O03Rik

MMRRC Submission

040135-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2132 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83189850-83295861 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 83215587 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134798 (fasta)

Gene Model

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

AlphaFold

Q9DBG3

Predicted Effect

probably benign
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 benign
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

noncoding transcript
Transcript: ENSMUST00000132178

Predicted Effect

probably benign
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 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

SMART Domains

Protein: ENSMUSP00000134798
Gene: ENSMUSG00000035152

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

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.3%

Validation Efficiency

94% (117/124)

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: 122 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,112,335 (GRCm39)		probably benign	Het
4930562C15Rik	A	C	16: 4,653,835 (GRCm39)	Q128P	unknown	Het
Abcc3	T	A	11: 94,258,426 (GRCm39)	K473M	probably benign	Het
Acacb	TGGGG	TGGG	5: 114,347,828 (GRCm39)		probably null	Het
Adgrg7	C	A	16: 56,588,281 (GRCm39)	A199S	probably damaging	Het
Akap13	G	T	7: 75,261,182 (GRCm39)	A1269S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Atat1	A	G	17: 36,220,331 (GRCm39)	S54P	probably damaging	Het
Atp13a2	T	A	4: 140,732,327 (GRCm39)	M864K	probably damaging	Het
B3gnt3	G	A	8: 72,145,971 (GRCm39)	T186M	probably damaging	Het
Cars1	C	A	7: 143,146,211 (GRCm39)	R71M	probably damaging	Het
Castor2	G	A	5: 134,164,992 (GRCm39)	C187Y	probably damaging	Het
Ccdc157	A	T	11: 4,100,004 (GRCm39)	V116E	probably damaging	Het
Ccdc85a	G	A	11: 28,384,151 (GRCm39)	T408I	probably benign	Het
Celf1	G	T	2: 90,840,791 (GRCm39)	G353W	probably damaging	Het
Celsr1	T	A	15: 85,916,168 (GRCm39)	I602F	possibly damaging	Het
Cenpb	C	T	2: 131,021,226 (GRCm39)	V191M	probably damaging	Het
Cenpn	G	A	8: 117,661,536 (GRCm39)		probably null	Het
Cfap65	A	C	1: 74,946,850 (GRCm39)	C1287G	probably damaging	Het
Cmya5	G	A	13: 93,205,891 (GRCm39)	T3326I	probably damaging	Het
Cnn3	A	T	3: 121,245,584 (GRCm39)	E100V	probably damaging	Het
Col4a4	G	A	1: 82,475,581 (GRCm39)	R583C	unknown	Het
Commd7	A	C	2: 153,463,586 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,320,899 (GRCm39)	T304A	probably benign	Het
Cyp4a14	A	T	4: 115,348,588 (GRCm39)	S325R	probably damaging	Het
Dclk2	T	C	3: 86,827,353 (GRCm39)	N42S	probably benign	Het
Dmrta1	A	T	4: 89,576,946 (GRCm39)	Q134L	probably damaging	Het
Dnaaf3	T	A	7: 4,526,800 (GRCm39)	I426L	probably benign	Het
Dnah17	G	A	11: 117,924,573 (GRCm39)	L3999F	probably damaging	Het
Dock6	A	G	9: 21,757,814 (GRCm39)	S97P	probably benign	Het
Dsg1a	T	A	18: 20,473,854 (GRCm39)	S976T	probably damaging	Het
Dstyk	T	A	1: 132,377,222 (GRCm39)	M29K	probably null	Het
Eif3i	A	T	4: 129,490,719 (GRCm39)	H18Q	probably benign	Het
Epm2a	A	G	10: 11,219,426 (GRCm39)	E71G	probably benign	Het
Eps15l1	A	T	8: 73,140,712 (GRCm39)	V260D	probably benign	Het
Faf1	A	G	4: 109,568,042 (GRCm39)	N34S	probably damaging	Het
Fat3	A	G	9: 16,158,015 (GRCm39)		probably null	Het
Fbxw10	T	A	11: 62,750,683 (GRCm39)	I422N	probably damaging	Het
Fcgbpl1	C	T	7: 27,854,899 (GRCm39)	P1842S	probably damaging	Het
Fkbp15	C	A	4: 62,246,136 (GRCm39)	G431W	probably damaging	Het
Flnb	A	C	14: 7,873,376 (GRCm38)	D224A	probably benign	Het
Flnc	G	A	6: 29,443,675 (GRCm39)	V566M	probably damaging	Het
Gli3	T	A	13: 15,900,134 (GRCm39)	S1174T	possibly damaging	Het
Glmn	A	T	5: 107,726,321 (GRCm39)	V93E	probably damaging	Het
Glrx2	T	C	1: 143,620,842 (GRCm39)	S74P	possibly damaging	Het
Gm5422	G	A	10: 31,124,929 (GRCm39)		noncoding transcript	Het
Gpi1	T	C	7: 33,905,339 (GRCm39)	K362E	probably damaging	Het
Gtpbp2	T	C	17: 46,472,128 (GRCm39)	M21T	probably benign	Het
Gxylt1	A	G	15: 93,142,851 (GRCm39)	*405R	probably null	Het
Heyl	T	C	4: 123,139,876 (GRCm39)	V145A	probably damaging	Het
Hhipl1	A	C	12: 108,277,949 (GRCm39)	E92D	probably damaging	Het
Ifi207	A	G	1: 173,557,337 (GRCm39)	F467S	possibly damaging	Het
Ift70b	G	T	2: 75,767,129 (GRCm39)	H541Q	probably damaging	Het
Igf2r	A	T	17: 12,941,095 (GRCm39)	I462N	probably benign	Het
Inpp5b	A	T	4: 124,678,961 (GRCm39)		probably benign	Het
Kansl2	A	G	15: 98,427,278 (GRCm39)	I201T	probably damaging	Het
Kcnh8	T	C	17: 53,200,961 (GRCm39)	V465A	probably damaging	Het
Kcnu1	T	A	8: 26,341,928 (GRCm39)	I91N	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Klrc3	T	A	6: 129,618,501 (GRCm39)	Y94F	probably benign	Het
Lgals3bp	T	A	11: 118,284,113 (GRCm39)	T489S	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Magi1	T	C	6: 93,674,255 (GRCm39)	E951G	probably damaging	Het
Mcm7	T	C	5: 138,167,364 (GRCm39)	Q86R	probably damaging	Het
Med12l	G	T	3: 59,172,703 (GRCm39)		probably null	Het
Morc2a	A	G	11: 3,629,787 (GRCm39)	E402G	possibly damaging	Het
Mphosph8	T	C	14: 56,916,161 (GRCm39)	C486R	probably benign	Het
Mpo	A	G	11: 87,688,187 (GRCm39)	D282G	possibly damaging	Het
Mtcl1	G	T	17: 66,650,618 (GRCm39)	H1616N	probably benign	Het
Myh10	A	G	11: 68,698,115 (GRCm39)		probably benign	Het
Myh8	A	G	11: 67,183,702 (GRCm39)	E777G	probably damaging	Het
Nid1	A	G	13: 13,684,071 (GRCm39)	H1186R	probably benign	Het
Nppb	T	A	4: 148,070,454 (GRCm39)	S8T	probably benign	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,127,683 (GRCm39)		probably benign	Het
Or1ak2	A	G	2: 36,827,704 (GRCm39)	N191S	probably benign	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2f1	C	A	6: 42,721,069 (GRCm39)	L33M	possibly damaging	Het
Or5al5	A	G	2: 85,961,605 (GRCm39)	V134A	possibly damaging	Het
Or5b99	T	A	19: 12,976,402 (GRCm39)	D17E	probably benign	Het
Or6f1	C	T	7: 85,970,687 (GRCm39)	V158M	possibly damaging	Het
Osbpl6	T	A	2: 76,416,558 (GRCm39)	I546K	probably damaging	Het
Pard6g	T	C	18: 80,160,523 (GRCm39)	V212A	probably damaging	Het
Pate6	T	G	9: 35,701,039 (GRCm39)		probably benign	Het
Pdlim4	A	G	11: 53,954,563 (GRCm39)	L48S	possibly damaging	Het
Phactr3	T	C	2: 177,925,759 (GRCm39)	F345L	probably benign	Het
Plcb1	T	A	2: 135,167,587 (GRCm39)	Y460*	probably null	Het
Prcp	T	A	7: 92,550,488 (GRCm39)	V95D	probably benign	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Ror1	A	G	4: 100,267,222 (GRCm39)	N308D	probably benign	Het
Sdccag8	C	A	1: 176,783,455 (GRCm39)	Q655K	probably damaging	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Skap1	T	C	11: 96,355,559 (GRCm39)	I10T	possibly damaging	Het
Slc9a4	T	G	1: 40,646,901 (GRCm39)		probably null	Het
Smad2	T	A	18: 76,421,155 (GRCm39)	C161*	probably null	Het
Spata31d1a	G	T	13: 59,848,857 (GRCm39)	D1090E	probably damaging	Het
Stard13	T	C	5: 150,968,633 (GRCm39)	Y879C	probably damaging	Het
Tdrd6	T	C	17: 43,935,724 (GRCm39)	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Terf1	A	G	1: 15,875,909 (GRCm39)	E3G	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tnfrsf26	C	T	7: 143,171,577 (GRCm39)		probably null	Het
Tor1aip1	A	C	1: 155,883,308 (GRCm39)	M180R	probably damaging	Het
Trabd2b	A	T	4: 114,467,205 (GRCm39)	Q478L	probably benign	Het
Trim41	C	A	11: 48,698,419 (GRCm39)	G516W	probably damaging	Het
Ttc39a	A	G	4: 109,299,903 (GRCm39)	Y464C	probably damaging	Het
Unc5a	A	G	13: 55,138,896 (GRCm39)	S92G	probably damaging	Het
Unc5d	A	C	8: 29,365,557 (GRCm39)	S143A	possibly damaging	Het
Usp34	A	T	11: 23,414,556 (GRCm39)	H2833L	possibly damaging	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Wdr17	T	G	8: 55,125,541 (GRCm39)	K446N	probably damaging	Het
Xirp2	A	T	2: 67,338,392 (GRCm39)	Q211L	possibly damaging	Het
Xkr7	G	A	2: 152,894,816 (GRCm39)	R256Q	probably benign	Het
Zfp236	T	C	18: 82,639,429 (GRCm39)	M1225V	probably benign	Het
Zfp268	T	A	4: 145,350,803 (GRCm39)		probably benign	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp747l1	T	C	7: 126,986,107 (GRCm39)	D8G	probably benign	Het
Zfp758	A	G	17: 22,594,951 (GRCm39)	H479R	probably damaging	Het
Zfp827	A	G	8: 79,912,350 (GRCm39)	N284S	possibly damaging	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly damaging	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
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
R4583:Ap2b1	UTSW	11	83,288,605 (GRCm39)	missense	probably benign	0.00
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'- AGTATCTCTGTGAACCCCTCCG -3'
(R):5'- GCTCTGGCTGCTAAGTACAC -3'

Sequencing Primer
(F):5'- CTCCGCAAGTGCTTGAAGGATG -3'
(R):5'- TCTGGCTGCTAAGTACACAGAACAG -3'

Posted On

2014-10-01