Mutagenetix > Incidental Mutation

Incidental Mutation 'R1886:Ap2b1'

209567

Institutional Source

Beutler Lab

Gene Symbol

Ap2b1

Ensembl Gene

ENSMUSG00000035152

Gene Name

adaptor-related protein complex 2, beta 1 subunit

Synonyms

1300012O03Rik

MMRRC Submission

039907-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1886 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83189850-83295861 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83281561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 822 (N822K)

Ref Sequence

ENSEMBL: ENSMUSP00000135445 (fasta)

Gene Model

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

AlphaFold

Q9DBG3

Predicted Effect

probably benign
Transcript: ENSMUST00000018875
AA Change: N860K

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: N860K

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: N846K

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: N846K

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: N860K

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: N860K

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 damaging
Transcript: ENSMUST00000176523
AA Change: N822K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: N822K

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: 97.2%
3x: 96.2%
10x: 93.1%
20x: 85.9%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,809 (GRCm39)	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,302,227 (GRCm39)	T278A	probably benign	Het
Acacb	T	A	5: 114,357,020 (GRCm39)	L1317Q	probably damaging	Het
Acsf3	T	C	8: 123,510,741 (GRCm39)	V293A	probably damaging	Het
Adora3	A	C	3: 105,812,152 (GRCm39)	N13H	possibly damaging	Het
Aen	A	T	7: 78,557,073 (GRCm39)	D307V	probably damaging	Het
Ahnak	G	A	19: 8,993,343 (GRCm39)	D4876N	probably damaging	Het
Arhgdia	T	C	11: 120,470,244 (GRCm39)	D143G	probably benign	Het
Bcl9	G	T	3: 97,122,713 (GRCm39)	R29S	probably benign	Het
Bhmt2	T	A	13: 93,798,998 (GRCm39)	K274N	probably benign	Het
Brip1	C	A	11: 86,029,641 (GRCm39)	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,243,145 (GRCm39)	E434G	probably damaging	Het
Ccdc81	T	C	7: 89,515,819 (GRCm39)	E620G	possibly damaging	Het
Cdhr18	A	C	14: 13,828,607 (GRCm38)	Y718D	probably damaging	Het
Cfap299	A	G	5: 98,949,690 (GRCm39)	N208S	probably benign	Het
Cit	A	G	5: 116,071,545 (GRCm39)	Y584C	probably damaging	Het
Crebl2	T	C	6: 134,828,059 (GRCm39)	M77T	probably benign	Het
Dach2	G	A	X: 112,208,305 (GRCm39)	G61D	probably benign	Het
Ddx4	A	T	13: 112,759,199 (GRCm39)	D237E	probably damaging	Het
Dgcr8	A	G	16: 18,096,218 (GRCm39)	I490T	possibly damaging	Het
Dmxl1	G	A	18: 49,992,202 (GRCm39)	R316H	probably benign	Het
Dnah17	T	A	11: 117,998,987 (GRCm39)	I929F	possibly damaging	Het
Eif3f	A	G	7: 108,539,958 (GRCm39)	T289A	probably benign	Het
Ercc5	A	T	1: 44,215,136 (GRCm39)	K890*	probably null	Het
Esrp2	A	T	8: 106,860,489 (GRCm39)	V247E	probably damaging	Het
Evpl	C	T	11: 116,118,402 (GRCm39)	G735E	probably damaging	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fbxl21	A	G	13: 56,674,906 (GRCm39)	I60V	probably benign	Het
Frem3	A	G	8: 81,340,514 (GRCm39)	I936V	probably benign	Het
Fsd1l	T	C	4: 53,696,984 (GRCm39)		probably null	Het
Gad1-ps	T	C	10: 99,281,444 (GRCm39)		noncoding transcript	Het
Gbp2b	A	G	3: 142,314,063 (GRCm39)	T448A	probably benign	Het
Gfus	G	T	15: 75,798,838 (GRCm39)	T123N	possibly damaging	Het
Gmppa	T	C	1: 75,419,152 (GRCm39)	V353A	probably damaging	Het
Hmcn1	T	C	1: 150,453,046 (GRCm39)	E5423G	probably benign	Het
Hmgxb3	A	G	18: 61,270,473 (GRCm39)		probably null	Het
Krt12	T	C	11: 99,309,402 (GRCm39)	D286G	probably damaging	Het
Krt75	A	T	15: 101,479,532 (GRCm39)	M266K	probably damaging	Het
Ksr1	C	A	11: 78,911,204 (GRCm39)	V11F	probably null	Het
Lag3	T	C	6: 124,886,402 (GRCm39)	N184D	probably damaging	Het
Lsm10	C	G	4: 125,991,741 (GRCm39)	D32E	probably benign	Het
Mettl5	A	G	2: 69,711,149 (GRCm39)	V123A	probably damaging	Het
Mfrp	A	G	9: 44,014,785 (GRCm39)	D274G	possibly damaging	Het
Mgat3	A	G	15: 80,095,820 (GRCm39)	I216V	probably benign	Het
Mkrn3	G	A	7: 62,068,486 (GRCm39)	A435V	probably benign	Het
Mob3a	G	A	10: 80,527,068 (GRCm39)	Q86*	probably null	Het
Mplkipl1	A	G	19: 61,164,136 (GRCm39)	F100L	probably damaging	Het
Mttp	A	T	3: 137,798,376 (GRCm39)	V840D	probably damaging	Het
Nadk2	A	C	15: 9,103,446 (GRCm39)	N308H	possibly damaging	Het
Ncoa7	T	C	10: 30,524,448 (GRCm39)	N823S	possibly damaging	Het
Nlk	T	A	11: 78,477,754 (GRCm39)	I330F	probably damaging	Het
Ofcc1	T	C	13: 40,360,100 (GRCm39)	S310G	possibly damaging	Het
Or5p57	T	C	7: 107,665,985 (GRCm39)	N7D	probably benign	Het
Or5p73	A	T	7: 108,064,947 (GRCm39)	M139L	probably benign	Het
Orc2	T	C	1: 58,510,247 (GRCm39)		probably null	Het
Orc3	A	G	4: 34,584,829 (GRCm39)	Y459H	probably damaging	Het
Pah	T	A	10: 87,364,190 (GRCm39)	N30K	possibly damaging	Het
Pcsk4	T	C	10: 80,164,794 (GRCm39)	K74E	probably benign	Het
Pdlim7	C	T	13: 55,653,981 (GRCm39)	G212D	probably benign	Het
Pfkm	A	G	15: 98,025,627 (GRCm39)	N547S	probably damaging	Het
Por	A	G	5: 135,763,128 (GRCm39)	E546G	probably damaging	Het
Ppp1r13l	T	C	7: 19,111,496 (GRCm39)	S774P	probably damaging	Het
Prdm1	T	A	10: 44,315,754 (GRCm39)	D794V	probably damaging	Het
Prdx5	A	G	19: 6,885,558 (GRCm39)	I32T	probably benign	Het
Prlhr	G	T	19: 60,455,932 (GRCm39)	C211*	probably null	Het
Ripk3	C	T	14: 56,025,694 (GRCm39)		probably null	Het
Rmnd5b	G	A	11: 51,518,465 (GRCm39)	A137V	probably damaging	Het
Rwdd2b	A	T	16: 87,234,013 (GRCm39)	F72I	probably benign	Het
Scml4	A	G	10: 42,788,223 (GRCm39)	Y51C	probably damaging	Het
Septin1	A	G	7: 126,813,937 (GRCm39)		probably benign	Het
Serpinb9h	C	T	13: 33,588,203 (GRCm39)	R263C	possibly damaging	Het
Slc30a10	T	A	1: 185,195,061 (GRCm39)	I291N	probably damaging	Het
Slc7a9	T	G	7: 35,152,827 (GRCm39)	C20W	possibly damaging	Het
Slc7a9	G	C	7: 35,152,828 (GRCm39)	A21P	probably damaging	Het
Slco1b2	A	T	6: 141,628,951 (GRCm39)	Y551F	probably damaging	Het
Sra1	T	C	18: 36,801,830 (GRCm39)	M87V	probably benign	Het
Syvn1	T	C	19: 6,099,257 (GRCm39)	S169P	possibly damaging	Het
Tmc7	A	T	7: 118,160,310 (GRCm39)	F176I	possibly damaging	Het
Tmem62	A	T	2: 120,817,151 (GRCm39)	I236F	probably damaging	Het
Trip4	T	A	9: 65,782,163 (GRCm39)	I190F	probably null	Het
Trpa1	T	C	1: 14,959,649 (GRCm39)	D679G	probably benign	Het
Ttc22	T	A	4: 106,494,063 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Tyrp1	T	A	4: 80,759,043 (GRCm39)		probably null	Het
Ubap2	C	T	4: 41,199,872 (GRCm39)	A752T	probably benign	Het
Usp36	A	T	11: 118,163,784 (GRCm39)	Y255N	probably damaging	Het
Zfp944	A	T	17: 22,558,960 (GRCm39)	Y96N	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
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
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'- GTGTCCAACATCACCCATAGG -3'
(R):5'- GCATTTAACATGTGACCCACC -3'

Sequencing Primer
(F):5'- CCAGTGTGTGTTCTAGTTCAATCAAG -3'
(R):5'- GTGACCCACCACAATCATGTTAAATG -3'

Posted On

2014-06-30