Mutagenetix > Incidental Mutation

Incidental Mutation 'R7429:Ap2b1'

576333

Institutional Source

Beutler Lab

Gene Symbol

Ap2b1

Ensembl Gene

ENSMUSG00000035152

Gene Name

adaptor-related protein complex 2, beta 1 subunit

Synonyms

1300012O03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7429 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83299024-83405035 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 83367998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 765 (T765I)

Ref Sequence

ENSEMBL: ENSMUSP00000018875 (fasta)

Gene Model

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

AlphaFold

Q9DBG3

Predicted Effect

probably benign
Transcript: ENSMUST00000018875
AA Change: T765I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: T765I

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: T751I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: T751I

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: T765I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: T765I

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
AA Change: T727I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: T727I

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

Meta Mutation Damage Score

0.1124

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

100% (71/71)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933407L21Rik	T	C	1: 85,931,307	C60R	unknown	Het
A430033K04Rik	A	G	5: 138,636,183	D20G	possibly damaging	Het
Abca9	CA	C	11: 110,127,426		probably null	Het
Ankle2	C	T	5: 110,234,518	T120I	possibly damaging	Het
Atp8b4	A	T	2: 126,403,371	V286E	possibly damaging	Het
Brms1l	T	C	12: 55,845,299	L126P	probably damaging	Het
Btbd7	T	C	12: 102,837,780	T334A	probably damaging	Het
Cdh18	T	C	15: 23,366,856	V216A	possibly damaging	Het
Chka	A	G	19: 3,892,787	Y415C	probably damaging	Het
Cnih1	C	T	14: 46,780,222	V52I	possibly damaging	Het
Cox4i1	T	A	8: 120,674,031	M145K	probably damaging	Het
Cubn	G	T	2: 13,322,993	R2674S	possibly damaging	Het
Cyfip1	A	G	7: 55,900,593	E692G	probably damaging	Het
Dido1	G	A	2: 180,689,526	T43M	possibly damaging	Het
Edc4	T	C	8: 105,891,584	S1245P	probably damaging	Het
Enpp1	G	T	10: 24,711,950	H14Q	probably benign	Het
Etaa1	C	T	11: 17,940,281	R860Q	probably damaging	Het
Fam181b	G	A	7: 93,080,195	V59M	probably benign	Het
Fam184b	G	A	5: 45,540,888	T655I	probably benign	Het
Fcgr3	A	G	1: 171,057,873	M61T	probably benign	Het
Fign	T	C	2: 63,979,060	D622G	probably damaging	Het
Frmd3	A	G	4: 74,145,105	D223G	probably damaging	Het
Galnt4	A	G	10: 99,109,748	H445R	probably damaging	Het
Gm13124	T	A	4: 144,565,056	I27F	probably benign	Het
Gm44501	A	G	17: 40,576,626	T12A	probably null	Het
Hnrnpll	T	A	17: 80,049,847	I247F	probably damaging	Het
Hs3st4	T	C	7: 124,397,382	F424L	probably damaging	Het
Ifi206	A	T	1: 173,480,591	V613E		Het
Insig1	T	C	5: 28,075,079	F223S	probably damaging	Het
Iqgap1	C	T	7: 80,751,440	E500K	probably benign	Het
Itgav	G	A	2: 83,794,258	V731M	probably damaging	Het
Lrrfip2	T	G	9: 111,185,126		probably null	Het
Mark4	C	A	7: 19,426,167	G723C	probably damaging	Het
Marveld3	A	G	8: 109,948,468	S239P	possibly damaging	Het
Mast3	A	C	8: 70,780,303	C1122G	probably damaging	Het
Ms4a4d	A	G	19: 11,557,933	I198M	probably benign	Het
Mup14	C	T	4: 61,303,448	G35E	probably damaging	Het
Myo1a	T	A	10: 127,706,847	V118E	probably damaging	Het
Nfatc3	A	G	8: 106,108,403	T794A	probably benign	Het
Olfr406	T	A	11: 74,269,753	D121E	probably damaging	Het
Olfr577	A	T	7: 102,973,762	S77T	probably damaging	Het
Olfr828	T	C	9: 18,815,354	*313W	probably null	Het
Pde6c	T	A	19: 38,141,439	Y266N	probably damaging	Het
Pde9a	T	C	17: 31,470,706	L435P	probably damaging	Het
Pgm2	T	A	4: 99,955,995	M1K	probably null	Het
Plcb4	T	C	2: 135,968,322	Y626H	probably damaging	Het
Rnf10	T	C	5: 115,248,680	N517D	probably damaging	Het
Rpap3	A	T	15: 97,688,150	L320Q	possibly damaging	Het
Rptor	T	C	11: 119,846,828	W576R	probably damaging	Het
Scarb2	T	C	5: 92,485,234	I80V	probably benign	Het
Serpinc1	A	G	1: 160,995,441	T251A	probably benign	Het
Sgk3	A	G	1: 9,872,258	D85G	probably benign	Het
Sipa1l3	T	C	7: 29,387,206	D653G	probably benign	Het
Slc2a1	A	G	4: 119,136,313	Y449C	probably damaging	Het
Snx13	T	C	12: 35,133,358	V760A	possibly damaging	Het
Snx7	T	C	3: 117,837,212	N249S	probably benign	Het
Soat2	C	A	15: 102,154,300	H124Q	probably damaging	Het
Sugt1	T	A	14: 79,619,801		probably null	Het
Syne2	C	T	12: 75,933,996	T1509M	probably damaging	Het
Syne2	T	A	12: 76,040,410	L214*	probably null	Het
Taok2	T	C	7: 126,870,677	Q993R	possibly damaging	Het
Tmem161b	A	G	13: 84,282,747		probably null	Het
Tspan17	G	A	13: 54,795,972	E213K	probably benign	Het
Ttc6	T	A	12: 57,658,102	I631N	probably benign	Het
Ttn	T	A	2: 76,810,939	L13574F	probably damaging	Het
U2af1l4	A	G	7: 30,563,390	E12G	probably benign	Het
Usp39	T	C	6: 72,342,917	Y106C	probably damaging	Het
Vmn1r185	A	C	7: 26,611,178	F301V	probably benign	Het
Zbp1	T	A	2: 173,213,818	K184N	unknown	Het
Zfp438	A	G	18: 5,214,139	V273A	probably benign	Het
Zswim5	A	G	4: 116,975,857	T596A	possibly damaging	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
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
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'- TCTGAACAGATGTGCCTTCCTC -3'
(R):5'- GTCCTGTTCTCCAGAGTCAAGG -3'

Sequencing Primer
(F):5'- CCTCTTTGCATGCTGGGAAAG -3'
(R):5'- TGTTCTCCAGAGTCAAGGCAGAC -3'

Posted On

2019-10-07