Mutagenetix > Incidental Mutation

Incidental Mutation 'R7241:Ap2b1'

563223

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 #

R7241 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83299024-83405035 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 83351105 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 641 (N641K)

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: N641K

PolyPhen 2 Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: N641K

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: N641K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: N641K

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: N641K

PolyPhen 2 Score 0.158 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: N641K

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: N603K

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: N603K

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,287,042	E3378G	probably benign	Het
Abca14	A	G	7: 120,246,961	T612A	probably damaging	Het
Acacb	G	A	5: 114,245,100	A2115T	possibly damaging	Het
Adam32	T	C	8: 24,898,494	K398R	probably benign	Het
Adam9	T	A	8: 24,950,986	I824F	possibly damaging	Het
Ahnak	A	G	19: 9,009,031	I2560V	possibly damaging	Het
Ank3	G	A	10: 69,706,814	M1I	probably null	Het
Anks1b	T	G	10: 90,512,837	I789S	probably damaging	Het
Arhgap33	A	G	7: 30,528,721	L412P	probably damaging	Het
Atp13a3	T	A	16: 30,352,277	M317L	possibly damaging	Het
B4galt5	A	G	2: 167,306,697	L167P	probably damaging	Het
Bace2	T	C	16: 97,436,798	I483T	possibly damaging	Het
C2cd3	A	C	7: 100,407,050	K177T		Het
Ccr4	T	C	9: 114,492,956	T14A	probably benign	Het
Cep250	A	T	2: 155,991,552	H1799L	probably benign	Het
Cgnl1	T	C	9: 71,724,770	Q433R	probably benign	Het
Copb1	C	T	7: 114,237,356	V384M	probably damaging	Het
Cyp2c50	T	A	19: 40,090,568	N118K	probably benign	Het
Cyp4a32	A	G	4: 115,602,302	I78V	probably benign	Het
Cyth4	A	G	15: 78,607,045	K108R	probably benign	Het
Dnah1	T	C	14: 31,264,939	H3632R	probably benign	Het
Dnah3	T	C	7: 119,943,633	I540V	probably benign	Het
Dock4	A	G	12: 40,794,860	Y1174C	probably damaging	Het
Drd5	A	G	5: 38,320,536	T291A	probably damaging	Het
Fam102a	A	G	2: 32,558,064	R62G	probably benign	Het
Fbn1	T	C	2: 125,306,495	N2611S	possibly damaging	Het
Fhod3	A	G	18: 25,060,352	E640G	probably damaging	Het
Flvcr2	T	A	12: 85,805,239	D522E	probably benign	Het
Fuk	A	G	8: 110,895,897	I133T	probably benign	Het
Ganc	T	A	2: 120,441,529	I556K	probably damaging	Het
Gjc2	T	A	11: 59,177,134	E174V	unknown	Het
Gm4869	A	G	5: 140,462,188	T137A	probably damaging	Het
Gzmd	G	A	14: 56,131,342	R32C	probably damaging	Het
Hltf	T	A	3: 20,065,392	H200Q	probably benign	Het
Hrasls5	A	G	19: 7,614,581	T121A	probably benign	Het
Ift88	A	G	14: 57,479,997	I559M	probably damaging	Het
Ighv1-62-1	C	A	12: 115,386,702	C115F	probably damaging	Het
Impdh2	A	G	9: 108,563,437	N279S	possibly damaging	Het
Itpr1	T	C	6: 108,517,620		probably null	Het
Kansl1l	T	C	1: 66,801,628	N171S	possibly damaging	Het
Kif14	T	A	1: 136,468,753	C266S	probably benign	Het
Lrriq1	A	C	10: 103,215,973	V306G	probably damaging	Het
Mast4	G	A	13: 103,334,000	R65W	possibly damaging	Het
Mex3d	T	C	10: 80,387,257	D55G		Het
Mrps27	A	T	13: 99,411,280	K233*	probably null	Het
Myo1f	A	G	17: 33,579,928	N189S	probably damaging	Het
Nbn	A	T	4: 15,991,190	K729N	probably benign	Het
Olfr1082	C	A	2: 86,594,154	V225F	possibly damaging	Het
Olfr395	T	C	11: 73,907,232	S87G	probably benign	Het
Park2	C	A	17: 11,854,861	N355K	possibly damaging	Het
Pgghg	T	C	7: 140,945,720	S479P		Het
Polr1e	A	C	4: 45,029,340	H315P	probably damaging	Het
Pou6f2	A	G	13: 18,125,289	V595A		Het
Prdm15	T	C	16: 97,795,741	D960G	possibly damaging	Het
Prkcz	A	T	4: 155,269,059	M460K	probably benign	Het
Prkd2	G	T	7: 16,857,805	R587L	probably benign	Het
Rabep1	C	A	11: 70,939,989	T829N	probably damaging	Het
Rptn	A	G	3: 93,395,954	E198G	probably benign	Het
Ryr2	A	T	13: 11,665,913	I3182N	possibly damaging	Het
Sectm1a	T	A	11: 121,069,882	I36F	possibly damaging	Het
Sez6l	T	C	5: 112,473,480	S243G	probably benign	Het
Taf2	T	A	15: 55,062,141	H235L	probably benign	Het
Tbc1d7	T	C	13: 43,153,017	Q161R	probably benign	Het
Tfcp2	T	C	15: 100,518,587	T271A	possibly damaging	Het
Thrsp	G	T	7: 97,417,088	T139K	probably damaging	Het
Timm10	T	A	2: 84,829,989	*91R	probably null	Het
Tlr11	T	A	14: 50,362,141	I528N	possibly damaging	Het
Tnnt2	T	A	1: 135,851,706	L278Q	probably damaging	Het
Toe1	A	T	4: 116,807,518	M1K	probably null	Het
Trpv5	G	A	6: 41,675,308	R148*	probably null	Het
Ttll13	A	C	7: 80,254,163	K280Q	probably damaging	Het
Ttn	A	G	2: 76,953,206	V860A	unknown	Het
Txnip	T	C	3: 96,559,675	Y222H	probably damaging	Het
Ubr4	G	A	4: 139,443,414	S1600N	probably damaging	Het
Uhrf1	T	C	17: 56,315,193	Y364H	probably damaging	Het
Unc5a	A	T	13: 54,991,020	T71S	probably damaging	Het
Vmn1r123	A	T	7: 21,162,612	Y143F	possibly damaging	Het
Vmn1r180	T	A	7: 23,952,466	I18N	probably damaging	Het
Washc2	A	G	6: 116,208,207	M1V	probably null	Het
Zfp174	C	A	16: 3,848,247	H125Q	probably benign	Het
Zfpl1	T	C	19: 6,081,913	H227R	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
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'- TATAACCATTCCCACGGCAGTC -3'
(R):5'- GACATACTGCATCGCATTAAACAG -3'

Sequencing Primer
(F):5'- AGTCACGCGCTGCTTTG -3'
(R):5'- ACTGCATCGCATTAAACAGAATAG -3'

Posted On

2019-06-26