Mutagenetix > Incidental Mutation

Incidental Mutation 'R7635:Ap2b1'

589905

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 #

R7635 (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 C at 83389728 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 827 (V827A)

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: V827A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000018875
Gene: ENSMUSG00000035152
AA Change: V827A

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: V813A

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000070714
Gene: ENSMUSG00000035152
AA Change: V813A

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: V827A

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000134779
Gene: ENSMUSG00000035152
AA Change: V827A

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: V789A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135445
Gene: ENSMUSG00000035152
AA Change: V789A

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: 99.7%
20x: 99.1%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	A	C	9: 108,397,406	D236A	probably damaging	Het
2410089E03Rik	A	G	15: 8,226,920	I1955V	probably benign	Het
4833423E24Rik	T	A	2: 85,500,237	H242L	probably benign	Het
Adamts7	C	T	9: 90,195,245	P1322S	probably damaging	Het
AI661453	A	T	17: 47,467,751	T801S	unknown	Het
Alpk1	A	G	3: 127,695,661	V123A	probably benign	Het
Aqp5	T	A	15: 99,594,178	I219N	probably benign	Het
Astn1	G	A	1: 158,667,535	W1051*	probably null	Het
Atp8b1	T	C	18: 64,573,305	D211G	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
Bsn	A	G	9: 108,110,990	V2521A	unknown	Het
Car7	T	C	8: 104,548,437	V169A	probably damaging	Het
Catip	T	A	1: 74,368,962	D484E	unknown	Het
Ccdc18	T	C	5: 108,229,049		probably null	Het
Cdyl	T	C	13: 35,871,651	V518A	probably damaging	Het
Cep350	A	T	1: 155,879,021	C1949*	probably null	Het
Cinp	A	G	12: 110,884,013	V18A	possibly damaging	Het
Clec14a	A	G	12: 58,268,528	C103R	probably damaging	Het
Dnah8	G	C	17: 30,785,107	E3655Q	probably damaging	Het
Dnajc11	T	C	4: 151,968,611	I164T	probably damaging	Het
Dnajc13	A	T	9: 104,162,367	M2101K	probably benign	Het
Ephb4	A	G	5: 137,372,103	D864G	probably damaging	Het
Fkbp5	T	C	17: 28,428,361	T167A	probably benign	Het
Foxf2	C	A	13: 31,626,104	P9T	unknown	Het
Frmpd2	C	A	14: 33,500,963	H105N	possibly damaging	Het
Gal3st3	C	A	19: 5,307,406	R270S	probably damaging	Het
Galnt13	A	G	2: 54,857,817	I237V	probably damaging	Het
Gata5	G	T	2: 180,333,997	Q125K	possibly damaging	Het
Gm10036	T	A	18: 15,833,289	F166I	possibly damaging	Het
Gm13084	T	C	4: 143,810,417	E448G	probably damaging	Het
Gon4l	A	G	3: 88,895,106	N1008S	probably benign	Het
Got1l1	G	A	8: 27,197,934	L356F	probably damaging	Het
Gse1	A	G	8: 120,572,895	E888G	unknown	Het
Hmx1	C	A	5: 35,392,239	P292Q	possibly damaging	Het
Igkv7-33	A	T	6: 70,059,154	S16T	probably benign	Het
Itga2b	C	T	11: 102,461,756	G424D	probably damaging	Het
Itga6	A	T	2: 71,843,233	K870N	probably benign	Het
Lama4	A	T	10: 39,092,188	Q1442L	probably benign	Het
Lamc1	C	T	1: 153,249,060	R655H	probably damaging	Het
Lclat1	C	T	17: 73,161,936	S37L	probably benign	Het
Lrp1b	A	G	2: 41,123,597		probably null	Het
Map3k20	T	C	2: 72,402,004	S335P	probably benign	Het
Micu3	A	G	8: 40,366,234	D318G	possibly damaging	Het
Mmp16	T	C	4: 18,054,382	I296T	probably benign	Het
Mmp20	A	T	9: 7,639,334	I168L	probably benign	Het
Mpp3	T	C	11: 102,025,383	K48E	probably damaging	Het
Muc5ac	A	T	7: 141,805,676	D1291V	probably damaging	Het
Muc5ac	A	T	7: 141,805,753	T1317S	possibly damaging	Het
Myl10	A	T	5: 136,700,864	M119L	probably benign	Het
Myo5b	T	A	18: 74,580,396	V104E	probably damaging	Het
Nek10	G	A	14: 14,850,932	V326M	probably benign	Het
Olfr1348	G	A	7: 6,501,582	L221F	probably benign	Het
Olfr323	T	A	11: 58,625,164	E107D	unknown	Het
Olfr791	A	T	10: 129,526,682	M152L	probably benign	Het
Pcnx	A	G	12: 81,919,125	T161A		Het
Peg10	T	C	6: 4,754,938	S240P	probably damaging	Het
Pex6	G	A	17: 46,724,017	V822M	probably damaging	Het
Pla2r1	T	A	2: 60,534,762	T155S	probably benign	Het
Pld5	A	T	1: 175,993,850		probably null	Het
Plxna4	A	G	6: 32,496,741	V447A	probably damaging	Het
Pou2af1	T	C	9: 51,232,983	S66P	probably benign	Het
Prl2c2	T	C	13: 12,997,343	D147G	probably damaging	Het
Prune1	A	G	3: 95,255,285	L359P	probably damaging	Het
Rab4b	A	T	7: 27,176,217	V13E	probably damaging	Het
Rbbp6	T	G	7: 122,976,008	V80G	possibly damaging	Het
Reep5	C	T	18: 34,349,800	G119S	possibly damaging	Het
Rem1	G	C	2: 152,634,665	R281P	probably damaging	Het
Rnf215	C	T	11: 4,139,989	R309C	probably damaging	Het
Scn4a	C	A	11: 106,324,632	V1173F	probably damaging	Het
Serpine3	A	T	14: 62,673,015	I186F	possibly damaging	Het
Slc7a1	A	G	5: 148,352,236	V67A	probably damaging	Het
Smco2	A	T	6: 146,860,009	E142V	possibly damaging	Het
Spata25	G	A	2: 164,827,969	P41S	probably benign	Het
Specc1l	A	G	10: 75,276,804	D955G	probably damaging	Het
Spns3	C	T	11: 72,539,034		probably null	Het
Sptbn2	C	T	19: 4,744,207	R1480C	probably damaging	Het
Taf1a	T	C	1: 183,408,434		probably null	Het
Tas2r107	G	T	6: 131,659,600	T162K	possibly damaging	Het
Tcea1	T	C	1: 4,889,551	S139P	probably benign	Het
Tecta	C	T	9: 42,330,987	V2102I	probably benign	Het
Tmem131	A	T	1: 36,872,548	I106K	probably damaging	Het
Tpbpb	A	G	13: 60,902,111	V68A	probably benign	Het
Ttc27	A	T	17: 74,718,715	N61I	probably benign	Het
Ttn	T	C	2: 76,749,677	N23624S	probably damaging	Het
Usp2	T	C	9: 44,067,222		probably null	Het
Vmn1r10	A	G	6: 57,114,041	H206R	probably benign	Het
Vmn1r234	T	C	17: 21,229,217	I131T	probably damaging	Het
Vwf	G	T	6: 125,682,734	R2632L		Het
Wdr36	T	C	18: 32,850,525	L443P	probably benign	Het
Zcchc6	T	C	13: 59,800,090	K806E	probably benign	Het
Zfp143	T	C	7: 110,088,818	V489A	probably benign	Het
Zfp383	G	A	7: 29,915,271	R317Q	probably damaging	Het
Zswim8	A	G	14: 20,716,300	T839A	probably 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
R7429:Ap2b1	UTSW	11	83367998	missense	probably benign	0.00
R7588:Ap2b1	UTSW	11	83324522	missense	probably benign	0.00
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'- GCCTGGAGGGTATACCATAGTC -3'
(R):5'- AGTGACTGGCAAATGACCAATG -3'

Sequencing Primer
(F):5'- CTGGAGGGTATACCATAGTCTTCTAG -3'
(R):5'- CCAATGATCAACTACTTATTGGGGC -3'

Posted On

2019-10-24