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

83299024-83405035 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83390735 bp (GRCm38)

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
1700007G11Rik	A	G	5: 98,801,831	N208S	probably benign	Het
1700102P08Rik	T	A	9: 108,393,610	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,411,401	T278A	probably benign	Het
Acacb	T	A	5: 114,218,959	L1317Q	probably damaging	Het
Acsf3	T	C	8: 122,784,002	V293A	probably damaging	Het
Adora3	A	C	3: 105,904,836	N13H	possibly damaging	Het
Aen	A	T	7: 78,907,325	D307V	probably damaging	Het
Ahnak	G	A	19: 9,015,979	D4876N	probably damaging	Het
Arhgdia	T	C	11: 120,579,418	D143G	probably benign	Het
AU022751	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 6,082,591		probably benign	Het
Bcl9	G	T	3: 97,215,397	R29S	probably benign	Het
Bhmt2	T	A	13: 93,662,490	K274N	probably benign	Het
Brip1	C	A	11: 86,138,815	G631V	probably damaging	Het
Cacna1i	A	G	15: 80,358,944	E434G	probably damaging	Het
Ccdc81	T	C	7: 89,866,611	E620G	possibly damaging	Het
Cit	A	G	5: 115,933,486	Y584C	probably damaging	Het
Crebl2	T	C	6: 134,851,096	M77T	probably benign	Het
Dach2	G	A	X: 113,298,608	G61D	probably benign	Het
Ddx4	A	T	13: 112,622,665	D237E	probably damaging	Het
Dgcr8	A	G	16: 18,278,354	I490T	possibly damaging	Het
Dmxl1	G	A	18: 49,859,135	R316H	probably benign	Het
Dnah17	T	A	11: 118,108,161	I929F	possibly damaging	Het
Eif3f	A	G	7: 108,940,751	T289A	probably benign	Het
Ercc5	A	T	1: 44,175,976	K890*	probably null	Het
Esrp2	A	T	8: 106,133,857	V247E	probably damaging	Het
Evpl	C	T	11: 116,227,576	G735E	probably damaging	Het
Fbxl21	A	G	13: 56,527,093	I60V	probably benign	Het
Frem3	A	G	8: 80,613,885	I936V	probably benign	Het
Fsd1l	T	C	4: 53,696,984		probably null	Het
Gad1-ps	T	C	10: 99,445,582		noncoding transcript	Het
Gbp2b	A	G	3: 142,608,302	T448A	probably benign	Het
Gm11397	C	T	13: 33,404,220	R263C	possibly damaging	Het
Gm281	A	C	14: 13,828,607	Y718D	probably damaging	Het
Gm7102	A	G	19: 61,175,698	F100L	probably damaging	Het
Gmppa	T	C	1: 75,442,508	V353A	probably damaging	Het
Hmcn1	T	C	1: 150,577,295	E5423G	probably benign	Het
Hmgxb3	A	G	18: 61,137,401		probably null	Het
Krt12	T	C	11: 99,418,576	D286G	probably damaging	Het
Krt75	A	T	15: 101,571,097	M266K	probably damaging	Het
Ksr1	C	A	11: 79,020,378	V11F	probably null	Het
Lag3	T	C	6: 124,909,439	N184D	probably damaging	Het
Lsm10	C	G	4: 126,097,948	D32E	probably benign	Het
Mettl5	A	G	2: 69,880,805	V123A	probably damaging	Het
Mfrp	A	G	9: 44,103,488	D274G	possibly damaging	Het
Mgat3	A	G	15: 80,211,619	I216V	probably benign	Het
Mkrn3	G	A	7: 62,418,738	A435V	probably benign	Het
Mob3a	G	A	10: 80,691,234	Q86*	probably null	Het
Mttp	A	T	3: 138,092,615	V840D	probably damaging	Het
Nadk2	A	C	15: 9,103,358	N308H	possibly damaging	Het
Ncoa7	T	C	10: 30,648,452	N823S	possibly damaging	Het
Nlk	T	A	11: 78,586,928	I330F	probably damaging	Het
Ofcc1	T	C	13: 40,206,624	S310G	possibly damaging	Het
Olfr480	T	C	7: 108,066,778	N7D	probably benign	Het
Olfr498	A	T	7: 108,465,740	M139L	probably benign	Het
Orc2	T	C	1: 58,471,088		probably null	Het
Orc3	A	G	4: 34,584,829	Y459H	probably damaging	Het
Pah	T	A	10: 87,528,328	N30K	possibly damaging	Het
Pcsk4	T	C	10: 80,328,960	K74E	probably benign	Het
Pdlim7	C	T	13: 55,506,168	G212D	probably benign	Het
Pfkm	A	G	15: 98,127,746	N547S	probably damaging	Het
Por	A	G	5: 135,734,274	E546G	probably damaging	Het
Ppp1r13l	T	C	7: 19,377,571	S774P	probably damaging	Het
Prdm1	T	A	10: 44,439,758	D794V	probably damaging	Het
Prdx5	A	G	19: 6,908,190	I32T	probably benign	Het
Prlhr	G	T	19: 60,467,494	C211*	probably null	Het
Ripk3	C	T	14: 55,788,237		probably null	Het
Rmnd5b	G	A	11: 51,627,638	A137V	probably damaging	Het
Rwdd2b	A	T	16: 87,437,125	F72I	probably benign	Het
Scml4	A	G	10: 42,912,227	Y51C	probably damaging	Het
Sept1	A	G	7: 127,214,765		probably benign	Het
Slc30a10	T	A	1: 185,462,864	I291N	probably damaging	Het
Slc7a9	T	G	7: 35,453,402	C20W	possibly damaging	Het
Slc7a9	G	C	7: 35,453,403	A21P	probably damaging	Het
Slco1b2	A	T	6: 141,683,225	Y551F	probably damaging	Het
Sra1	T	C	18: 36,668,777	M87V	probably benign	Het
Syvn1	T	C	19: 6,049,227	S169P	possibly damaging	Het
Tmc7	A	T	7: 118,561,087	F176I	possibly damaging	Het
Tmem62	A	T	2: 120,986,670	I236F	probably damaging	Het
Trip4	T	A	9: 65,874,881	I190F	probably null	Het
Trpa1	T	C	1: 14,889,425	D679G	probably benign	Het
Tsta3	G	T	15: 75,926,989	T123N	possibly damaging	Het
Ttc22	T	A	4: 106,636,866		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tyrp1	T	A	4: 80,840,806		probably null	Het
Ubap2	C	T	4: 41,199,872	A752T	probably benign	Het
Usp36	A	T	11: 118,272,958	Y255N	probably damaging	Het
Zfp944	A	T	17: 22,339,979	Y96N	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
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
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'- GTGTCCAACATCACCCATAGG -3'
(R):5'- GCATTTAACATGTGACCCACC -3'

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

Posted On

2014-06-30