Mutagenetix > Incidental Mutation

Incidental Mutation 'R4916:Ap2b1'

380100

Institutional Source

Beutler Lab

Gene Symbol

Ap2b1

Ensembl Gene

ENSMUSG00000035152

Gene Name

adaptor-related protein complex 2, beta 1 subunit

Synonyms

1300012O03Rik

MMRRC Submission

042518-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4916 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83299024-83405035 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 83390706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 813 (F813V)

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: F851V

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: F851V

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

possibly damaging
Transcript: ENSMUST00000065692
AA Change: F837V

PolyPhen 2 Score 0.604 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: F837V

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 damaging
Transcript: ENSMUST00000176430
AA Change: F851V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: F851V

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: F813V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: F813V

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: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

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: 106 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	G	A	12: 111,174,935	Q19*	probably null	Het
5430419D17Rik	T	A	7: 131,174,477		probably null	Het
6030468B19Rik	T	A	11: 117,806,266	C230*	probably null	Het
A730017C20Rik	A	T	18: 59,072,205	I22F	probably damaging	Het
Adcy10	A	G	1: 165,518,246	E288G	probably damaging	Het
Adnp	T	A	2: 168,187,617	T51S	possibly damaging	Het
Agap3	C	A	5: 24,478,013	A464D	probably damaging	Het
Ago4	A	C	4: 126,506,842	C693G	probably damaging	Het
Ahi1	A	G	10: 20,984,404	R675G	probably damaging	Het
Amigo1	T	A	3: 108,187,665	L160Q	probably damaging	Het
Ankrd35	T	C	3: 96,684,122	S575P	probably benign	Het
Ano3	T	A	2: 110,771,020	T298S	possibly damaging	Het
Aplnr	T	G	2: 85,136,917	F95L	probably damaging	Het
Apobec2	T	C	17: 48,423,125	E171G	probably benign	Het
Ascc1	A	G	10: 60,004,862	N15S	probably benign	Het
AY358078	T	A	14: 51,802,651	Y73N	unknown	Het
B3gnt8	C	A	7: 25,628,883	P246Q	probably damaging	Het
C2cd2l	T	C	9: 44,316,560	Q250R	probably damaging	Het
Camk2d	T	C	3: 126,783,975	Y180H	probably damaging	Het
Ccdc129	C	T	6: 55,978,190	P928S	possibly damaging	Het
Ccdc170	A	G	10: 4,518,971	E167G	probably damaging	Het
Cdyl2	A	G	8: 116,579,187	M445T	probably damaging	Het
Clca1	T	C	3: 145,015,844	D322G	probably benign	Het
Cnot10	C	T	9: 114,629,134	M101I	possibly damaging	Het
Cntrl	C	T	2: 35,165,682	T1196M	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Dcaf6	T	C	1: 165,420,205	D153G	probably damaging	Het
Dennd2c	G	A	3: 103,131,824	G96E	probably benign	Het
Dhrs9	T	C	2: 69,401,408	F304S	probably damaging	Het
Dmxl1	T	C	18: 49,877,697	S974P	probably damaging	Het
Dnah6	T	C	6: 73,192,676		probably benign	Het
Dnah7c	T	C	1: 46,595,008	L1049P	probably damaging	Het
Dnajc2	T	C	5: 21,757,340	K621E	probably damaging	Het
Ehbp1	T	C	11: 22,146,592	D299G	probably benign	Het
Erap1	A	G	13: 74,646,528	E102G	probably benign	Het
Fasn	T	G	11: 120,816,646	N799T	probably benign	Het
Fbxl20	T	C	11: 98,128,360	D22G	probably damaging	Het
Fgfr1	T	C	8: 25,563,526		probably null	Het
Frzb	A	T	2: 80,446,527	I105N	probably damaging	Het
Gabrb1	T	A	5: 71,869,421	F55Y	probably damaging	Het
Gatd1	G	T	7: 141,409,097	C216*	probably null	Het
Gnl2	A	C	4: 125,043,692	N255T	probably damaging	Het
Golgb1	A	T	16: 36,916,118	Q1909L	probably benign	Het
Gpnmb	T	C	6: 49,051,970	L474P	probably damaging	Het
H60b	T	C	10: 22,287,216	V230A	possibly damaging	Het
Hmcn2	T	A	2: 31,360,980	V818D	probably damaging	Het
Jade2	G	T	11: 51,817,082	T768K	probably benign	Het
Kif28	T	C	1: 179,702,520	H692R	probably benign	Het
Kmt2b	T	C	7: 30,578,517	N1634S	probably damaging	Het
Knop1	A	G	7: 118,846,076	W222R	probably damaging	Het
Lrmp	C	A	6: 145,165,301	S277R	probably damaging	Het
Map1b	T	C	13: 99,433,300	D971G	unknown	Het
Mapk7	G	T	11: 61,493,649	T77K	probably damaging	Het
Mcm6	A	G	1: 128,348,977	L292P	probably damaging	Het
Megf8	T	C	7: 25,339,664	L900P	probably benign	Het
Meis1	G	A	11: 18,881,776	H421Y	possibly damaging	Het
Mllt1	T	C	17: 56,899,813	T344A	probably benign	Het
Mta1	T	A	12: 113,136,540	S657T	probably benign	Het
Mtus1	C	A	8: 41,000,801	K998N	probably damaging	Het
Ncdn	G	A	4: 126,749,938	L364F	possibly damaging	Het
Ndufb7	T	C	8: 83,570,905	L63P	probably damaging	Het
Nfix	T	C	8: 84,771,829	I172V	probably benign	Het
Nos1	T	C	5: 117,947,570		probably null	Het
Nrp1	C	A	8: 128,502,804	S921*	probably null	Het
Olfr1459	T	A	19: 13,145,991	I223L	possibly damaging	Het
Olfr401	A	T	11: 74,121,879	I197F	probably benign	Het
Oma1	T	C	4: 103,319,530		probably null	Het
Pcp2	T	A	8: 3,625,534		probably benign	Het
Pdk4	T	A	6: 5,489,157	H250L	possibly damaging	Het
Phldb3	A	G	7: 24,624,291	H449R	probably benign	Het
Pip4k2c	T	C	10: 127,199,327	T391A	possibly damaging	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Ppfia2	G	C	10: 106,762,117	L180F	probably damaging	Het
Prkcg	T	G	7: 3,330,265	Y624*	probably null	Het
Psmg2	A	G	18: 67,648,856	E164G	probably damaging	Het
Rb1	A	T	14: 73,216,691	L589H	probably damaging	Het
Rcvrn	A	T	11: 67,695,765	I117F	probably damaging	Het
Rere	T	A	4: 150,619,144	W1528R	probably damaging	Het
Robo2	A	G	16: 73,898,915	S1447P	possibly damaging	Het
Scfd2	C	A	5: 74,462,658	G405W	probably damaging	Het
Scin	T	A	12: 40,069,374	I552F	possibly damaging	Het
Serpina3k	G	A	12: 104,343,010	V238M	probably damaging	Het
Slc1a6	G	A	10: 78,796,251	V304M	probably damaging	Het
Slc20a2	C	T	8: 22,561,004	S351L	probably damaging	Het
Slc31a2	T	C	4: 62,297,088	V124A	probably damaging	Het
Slc38a3	T	C	9: 107,656,227	N244S	probably benign	Het
Slc4a1	A	G	11: 102,352,453	V784A	probably damaging	Het
Slc6a5	T	C	7: 49,948,256	F623L	probably benign	Het
Slf2	T	G	19: 44,971,661	D1022E	probably damaging	Het
Slfn8	G	A	11: 83,016,878	H280Y	probably damaging	Het
Smpdl3a	A	T	10: 57,801,031	D45V	probably damaging	Het
Ssh3	T	C	19: 4,265,142	E342G	probably damaging	Het
Tacr1	A	T	6: 82,554,941	I273F	probably benign	Het
Tfg	T	A	16: 56,694,396		probably null	Het
Tmem179	A	G	12: 112,501,834	L71P	probably damaging	Het
Tmem63a	T	A	1: 180,966,521	I541N	probably benign	Het
Traj20	G	A	14: 54,199,467		probably benign	Het
Trappc13	A	T	13: 104,154,294		probably null	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Tulp1	A	G	17: 28,359,135	L310P	probably damaging	Het
Ube2cbp	A	G	9: 86,422,872	Y306H	probably damaging	Het
Urb1	A	T	16: 90,783,328	V649E	probably damaging	Het
Vps13d	A	G	4: 144,983,393	L4211P	probably damaging	Het
Vwa5b1	T	A	4: 138,594,262	I407F	possibly damaging	Het
Vwce	G	T	19: 10,646,879	C378F	probably damaging	Het
Zfp791	T	A	8: 85,110,951	I95L	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
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
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'- CCCACCACAATCATGTTAAATGTG -3'

Sequencing Primer
(F):5'- AACTGCATGCTTTCTTCCAGTGTG -3'
(R):5'- TGTTAAATGTGAAAAGAAGTAGCCAC -3'

Posted On

2016-04-15