Mutagenetix > Incidental Mutation

Incidental Mutation 'R1885:Ap2b1'

209469

Institutional Source

Beutler Lab

Gene Symbol

Ap2b1

Ensembl Gene

ENSMUSG00000035152

Gene Name

adaptor-related protein complex 2, beta 1 subunit

Synonyms

1300012O03Rik

MMRRC Submission

039906-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1885 (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: 97.0%
3x: 96.1%
10x: 92.7%
20x: 85.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,393,610	D124E	possibly damaging	Het
Aarsd1	T	C	11: 101,411,401	T278A	probably benign	Het
Acox2	C	T	14: 8,248,102	M393I	probably benign	Het
Adcy10	A	G	1: 165,570,808	I1491M	probably benign	Het
Adcy3	T	A	12: 4,134,951	V209E	probably damaging	Het
Adora3	A	C	3: 105,904,836	N13H	possibly damaging	Het
Apobec3	A	T	15: 79,897,705	H82L	probably damaging	Het
Atg9b	A	T	5: 24,388,254	W384R	probably damaging	Het
Atp8a1	A	G	5: 67,747,318	V506A	possibly damaging	Het
Atxn1	G	T	13: 45,567,804	A205D	probably benign	Het
AU022751	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 6,082,591		probably benign	Het
B4galnt3	T	C	6: 120,223,640	E223G	probably damaging	Het
Brip1	C	A	11: 86,138,815	G631V	probably damaging	Het
C530008M17Rik	A	G	5: 76,856,742	T317A	unknown	Het
Cacna1i	A	G	15: 80,358,944	E434G	probably damaging	Het
Caprin2	A	T	6: 148,877,885		probably null	Het
Ccdc80	A	C	16: 45,096,720	D613A	probably benign	Het
Ccdc81	T	C	7: 89,866,611	E620G	possibly damaging	Het
Cebpz	A	T	17: 78,932,116	D625E	probably benign	Het
Coq6	C	A	12: 84,372,464	N388K	probably damaging	Het
D430041D05Rik	T	C	2: 104,230,455	M1365V	probably benign	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dap3	A	G	3: 88,930,974	L86P	probably damaging	Het
Dpysl4	T	G	7: 139,096,807	V391G	probably damaging	Het
Dyrk4	G	T	6: 126,877,181	Q550K	probably benign	Het
Epas1	A	G	17: 86,805,295	D107G	probably damaging	Het
Esrp2	A	G	8: 106,131,821	V636A	possibly damaging	Het
Etl4	T	A	2: 20,743,984	Y176N	probably damaging	Het
Etnppl	T	C	3: 130,629,462	V264A	probably benign	Het
Fer	T	A	17: 64,138,914	V790D	probably damaging	Het
Gdpd5	G	A	7: 99,459,997	V575I	probably benign	Het
Gif	G	A	19: 11,752,324	A216T	probably benign	Het
Gipc3	T	C	10: 81,341,347	I130V	probably benign	Het
Gm281	A	C	14: 13,828,607	Y718D	probably damaging	Het
Iqsec3	G	A	6: 121,428,367		probably benign	Het
Kdm5d	G	T	Y: 940,781		probably null	Het
Kl	A	G	5: 150,953,494	R260G	possibly damaging	Het
Kras	T	C	6: 145,232,117	E143G	probably damaging	Het
Ksr1	C	A	11: 79,020,378	V11F	probably null	Het
Ksr1	T	C	11: 79,036,521	T329A	probably damaging	Het
March6	A	G	15: 31,502,806	V83A	probably benign	Het
Mettl2	T	C	11: 105,131,620	I212T	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
Mlh1	C	A	9: 111,258,556	S24I	probably benign	Het
Mmel1	G	A	4: 154,890,876	R424Q	possibly damaging	Het
Mob3a	G	A	10: 80,691,234	Q86*	probably null	Het
Myh3	A	G	11: 67,086,627	K368E	probably benign	Het
Myo16	T	A	8: 10,322,656	N118K	probably damaging	Het
Myo5c	A	G	9: 75,249,761	S160G	probably damaging	Het
Nat1	A	T	8: 67,491,001	I13F	probably damaging	Het
Ncoa7	T	C	10: 30,648,452	N823S	possibly damaging	Het
Nwd1	T	C	8: 72,704,994	S1207P	probably benign	Het
Olfr1299	G	T	2: 111,664,754	S176I	probably damaging	Het
Olfr1390	T	C	11: 49,340,835	L101P	probably damaging	Het
Olfr153	T	C	2: 87,532,824	S264P	probably damaging	Het
Olfr480	T	C	7: 108,066,778	N7D	probably benign	Het
Paqr8	A	T	1: 20,935,480	H286L	probably damaging	Het
Pdzd4	G	A	X: 73,795,446	R419C	probably damaging	Het
Pes1	A	G	11: 3,969,482	K52E	probably damaging	Het
Ppp1r13l	T	C	7: 19,377,571	S774P	probably damaging	Het
Robo2	T	C	16: 73,916,145	D1283G	probably benign	Het
Rp1l1	T	C	14: 64,028,390	V475A	probably benign	Het
Scml4	A	G	10: 42,912,227	Y51C	probably damaging	Het
Slc2a4	C	T	11: 69,945,007	V339I	probably benign	Het
Slc39a6	G	A	18: 24,601,482		probably null	Het
Slco1b2	A	T	6: 141,683,225	Y551F	probably damaging	Het
Snx33	T	C	9: 56,925,837	H316R	probably benign	Het
Spata31d1a	T	G	13: 59,702,007	D769A	probably damaging	Het
Stmn2	A	T	3: 8,541,904	E28V	probably damaging	Het
Syt9	A	G	7: 107,436,529	D251G	probably damaging	Het
Tjap1	T	C	17: 46,262,421	T37A	probably damaging	Het
Tmc7	A	T	7: 118,561,087	F176I	possibly damaging	Het
Tprg	A	G	16: 25,412,891	T206A	probably benign	Het
Tsta3	G	T	15: 75,926,989	T123N	possibly damaging	Het
Ttc37	A	T	13: 76,113,047	R112S	probably benign	Het
Ttc37	A	G	13: 76,130,235	Q556R	probably benign	Het
Ubqlnl	A	T	7: 104,150,065	M75K	possibly damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Vmn2r12	C	T	5: 109,092,076	G207E	probably damaging	Het
Xrn2	T	G	2: 147,049,361	L697*	probably null	Het
Zfp764	A	G	7: 127,405,039	F307L	probably benign	Het
Zfp804b	T	C	5: 6,770,376	R860G	probably damaging	Het
Zranb2	A	T	3: 157,543,156		probably null	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
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
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'- TGTGTCCAACATCACCCATAG -3'
(R):5'- GCATTTAACATGTGACCCACC -3'

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

Posted On

2014-06-30