Mutagenetix > Incidental Mutation

Incidental Mutation 'R0090:Ap4b1'

20122

Institutional Source

Beutler Lab

Gene Symbol

Ap4b1

Ensembl Gene

ENSMUSG00000032952

Gene Name

adaptor-related protein complex AP-4, beta 1

Synonyms

AP-4 beta-4, 1810038H16Rik

MMRRC Submission

038377-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R0090 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

103716836-103729341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 103727745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 325 (D325G)

Ref Sequence

ENSEMBL: ENSMUSP00000143355 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047285] [ENSMUST00000076599] [ENSMUST00000106823] [ENSMUST00000106824] [ENSMUST00000199710] [ENSMUST00000200377]

AlphaFold

Q9WV76

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047285
AA Change: D493G

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: D493G

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	6	525	7e-94	PFAM
Pfam:Cnd1	98	269	2.4e-11	PFAM
B2-adapt-app_C	619	731	3.75e-42	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076599
AA Change: D493G

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: D493G

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	6	525	1e-93	PFAM
Pfam:Cnd1	98	286	3.9e-10	PFAM
B2-adapt-app_C	619	731	3.75e-42	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106823
AA Change: D465G

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: D465G

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	6	374	2e-68	PFAM
Pfam:Cnd1	98	285	1.4e-10	PFAM
Pfam:Adaptin_N	371	497	5.2e-16	PFAM
B2-adapt-app_C	591	703	3.75e-42	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106824
AA Change: D418G

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: D418G

Domain	Start	End	E-Value	Type
Pfam:Cnd1	35	212	5e-9	PFAM
Pfam:Adaptin_N	35	450	1.2e-62	PFAM
B2-adapt-app_C	544	656	3.75e-42	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199686

Predicted Effect

possibly damaging
Transcript: ENSMUST00000199710
AA Change: D418G

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: D418G

Domain	Start	End	E-Value	Type
Pfam:Cnd1	35	212	5e-9	PFAM
Pfam:Adaptin_N	35	450	1.2e-62	PFAM
B2-adapt-app_C	544	656	3.75e-42	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200377
AA Change: D325G

PolyPhen 2 Score 0.908 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952
AA Change: D325G

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	7	357	2.9e-45	PFAM
B2-adapt-app_C	451	563	2.8e-46	SMART

Meta Mutation Damage Score

0.5830

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.7%
20x: 91.4%

Validation Efficiency

99% (90/91)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit poor rotarod performance. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
4933427I04Rik	A	G	4: 123,754,775 (GRCm39)	T230A	possibly damaging	Het
Acsm1	T	C	7: 119,261,412 (GRCm39)		probably benign	Het
Acta1	T	C	8: 124,620,396 (GRCm39)	N14S	probably damaging	Het
Aff4	A	G	11: 53,283,609 (GRCm39)	T362A	probably benign	Het
Aggf1	A	G	13: 95,501,467 (GRCm39)	I305T	probably benign	Het
Ap4e1	C	T	2: 126,906,905 (GRCm39)	T1055I	possibly damaging	Het
Arhgef2	A	T	3: 88,546,655 (GRCm39)	Q496L	probably damaging	Het
Arhgef28	A	G	13: 98,211,618 (GRCm39)	F122L	probably damaging	Het
Baiap3	G	A	17: 25,469,044 (GRCm39)		probably benign	Het
Casp8ap2	T	A	4: 32,640,327 (GRCm39)	H460Q	probably damaging	Het
Casz1	A	G	4: 149,017,868 (GRCm39)	T386A	probably benign	Het
Cd53	A	T	3: 106,674,725 (GRCm39)	V114E	possibly damaging	Het
Celsr2	A	G	3: 108,300,643 (GRCm39)		probably benign	Het
Cfap300	T	A	9: 8,027,184 (GRCm39)	N118I	probably benign	Het
Chaf1b	G	T	16: 93,684,012 (GRCm39)	A88S	possibly damaging	Het
Cldn10	A	T	14: 119,111,612 (GRCm39)	Y194F	probably damaging	Het
Clec2e	A	C	6: 129,072,181 (GRCm39)		probably null	Het
Cmpk2	A	T	12: 26,528,021 (GRCm39)	T413S	probably benign	Het
Col9a1	T	A	1: 24,262,643 (GRCm39)		probably null	Het
Dchs1	G	T	7: 105,405,139 (GRCm39)	Q2468K	probably benign	Het
Ddx60	A	G	8: 62,395,327 (GRCm39)	D88G	probably damaging	Het
Dnah8	A	G	17: 31,003,064 (GRCm39)	R3588G	probably benign	Het
Ect2	T	C	3: 27,169,625 (GRCm39)	T774A	probably benign	Het
Ect2	C	T	3: 27,192,651 (GRCm39)	E431K	probably null	Het
Ern1	A	G	11: 106,296,649 (GRCm39)	V767A	probably damaging	Het
Fbln1	A	C	15: 85,108,489 (GRCm39)	E75A	possibly damaging	Het
Fgf5	C	T	5: 98,409,846 (GRCm39)	R132*	probably null	Het
Folh1	T	C	7: 86,375,076 (GRCm39)		probably benign	Het
Gdf15	A	T	8: 71,082,334 (GRCm39)	H257Q	probably damaging	Het
Ghitm	T	C	14: 36,844,176 (GRCm39)	T322A	probably benign	Het
Gm5709	A	G	3: 59,526,192 (GRCm39)		noncoding transcript	Het
Hbb-y	C	T	7: 103,501,950 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,316,210 (GRCm39)	D3771V	probably damaging	Het
Hspa12a	T	C	19: 58,787,941 (GRCm39)	D627G	probably benign	Het
Idh2	T	C	7: 79,747,662 (GRCm39)	E286G	probably damaging	Het
Idh3b	C	A	2: 130,122,899 (GRCm39)	A297S	probably benign	Het
Igsf3	A	G	3: 101,342,968 (GRCm39)	E535G	probably damaging	Het
Ilf3	T	A	9: 21,306,710 (GRCm39)	D314E	probably damaging	Het
Itgb8	A	G	12: 119,166,298 (GRCm39)	S78P	probably benign	Het
Itih5	G	A	2: 10,169,495 (GRCm39)	V31I	probably benign	Het
Kcnj2	T	C	11: 110,963,853 (GRCm39)	V415A	probably benign	Het
Kin	A	G	2: 10,090,584 (GRCm39)	Q53R	possibly damaging	Het
Krt78	A	T	15: 101,856,272 (GRCm39)	M513K	probably benign	Het
Krtap4-8	A	T	11: 99,671,312 (GRCm39)		probably benign	Het
Ltbr	T	C	6: 125,286,412 (GRCm39)		probably benign	Het
Mgat4a	G	A	1: 37,529,414 (GRCm39)	T146I	probably damaging	Het
Mrps2	G	C	2: 28,358,268 (GRCm39)	W19C	probably damaging	Het
Mthfs	T	C	9: 89,093,344 (GRCm39)	S33P	probably damaging	Het
Myh6	T	C	14: 55,196,161 (GRCm39)	D546G	probably damaging	Het
Nanos3	C	T	8: 84,902,763 (GRCm39)	R133Q	probably damaging	Het
Ndst2	T	C	14: 20,777,335 (GRCm39)	T553A	probably damaging	Het
Nlrp12	T	C	7: 3,288,664 (GRCm39)	E616G	probably damaging	Het
Nrde2	T	C	12: 100,095,545 (GRCm39)		probably benign	Het
Nup210l	G	A	3: 90,119,086 (GRCm39)	V1832I	probably benign	Het
Or1e1c	G	A	11: 73,266,402 (GRCm39)	V276I	probably benign	Het
Or4k77	A	T	2: 111,199,639 (GRCm39)	I221F	probably damaging	Het
Pcm1	A	T	8: 41,709,078 (GRCm39)	E9D	probably damaging	Het
Pear1	A	T	3: 87,661,649 (GRCm39)	D541E	possibly damaging	Het
Peg10	A	G	6: 4,756,063 (GRCm39)		probably benign	Het
Prss1	G	A	6: 41,438,166 (GRCm39)	R31Q	probably benign	Het
Ptpn13	T	C	5: 103,717,369 (GRCm39)	V1837A	probably damaging	Het
Rasgrp3	A	G	17: 75,805,456 (GRCm39)	D149G	probably damaging	Het
Reg3d	A	T	6: 78,355,466 (GRCm39)	H8Q	possibly damaging	Het
Rhox4f	A	C	X: 36,789,122 (GRCm39)	V15G	probably benign	Het
Sacs	T	A	14: 61,442,889 (GRCm39)	L1645H	probably damaging	Het
Slc16a5	A	T	11: 115,355,751 (GRCm39)	S71C	probably damaging	Het
Slc9a3	A	G	13: 74,306,847 (GRCm39)	E324G	probably damaging	Het
Smgc	T	C	15: 91,743,960 (GRCm39)	V574A	possibly damaging	Het
Stac3	C	T	10: 127,339,799 (GRCm39)		probably benign	Het
Supv3l1	A	G	10: 62,265,485 (GRCm39)	L685P	probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tas2r125	G	T	6: 132,887,361 (GRCm39)	A250S	probably benign	Het
Tdrd6	C	T	17: 43,939,132 (GRCm39)	V639I	probably benign	Het
Thap12	T	G	7: 98,365,100 (GRCm39)	W423G	probably damaging	Het
Tmem245	T	C	4: 56,899,410 (GRCm39)	I217V	probably benign	Het
Trip12	T	A	1: 84,709,857 (GRCm39)		probably benign	Het
Tshz3	T	C	7: 36,468,317 (GRCm39)	V102A	probably benign	Het
Ubap1	T	C	4: 41,379,826 (GRCm39)	S347P	probably damaging	Het
Usp10	C	T	8: 120,679,935 (GRCm39)	Q612*	probably null	Het
Vmn2r72	T	C	7: 85,404,084 (GRCm39)	I36V	probably benign	Het
Vps37a	T	C	8: 40,980,030 (GRCm39)	I63T	possibly damaging	Het
Whrn	C	A	4: 63,350,969 (GRCm39)	R9L	possibly damaging	Het
Xrcc1	T	C	7: 24,269,642 (GRCm39)	Y401H	probably damaging	Het
Ylpm1	GCCTAAGCAGCAACCTAAG	GCCTAAG	12: 85,075,814 (GRCm39)		probably benign	Het
Zfhx3	G	A	8: 109,676,689 (GRCm39)	D2580N	possibly damaging	Het
Zfhx4	A	G	3: 5,308,685 (GRCm39)	N637S	probably damaging	Het
Zfp268	A	T	4: 145,349,195 (GRCm39)	K211*	probably null	Het
Zyg11a	A	T	4: 108,058,544 (GRCm39)		probably benign	Het

Other mutations in Ap4b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Ap4b1	APN	3	103,728,858 (GRCm39)	missense	probably benign	0.19
IGL01545:Ap4b1	APN	3	103,720,143 (GRCm39)	missense	probably benign	0.02
IGL02422:Ap4b1	APN	3	103,720,170 (GRCm39)	missense	possibly damaging	0.95
IGL02525:Ap4b1	APN	3	103,720,164 (GRCm39)	missense	probably damaging	1.00
R0035:Ap4b1	UTSW	3	103,727,980 (GRCm39)	splice site	probably benign
R0035:Ap4b1	UTSW	3	103,727,980 (GRCm39)	splice site	probably benign
R0086:Ap4b1	UTSW	3	103,722,176 (GRCm39)	missense	probably damaging	0.99
R0136:Ap4b1	UTSW	3	103,717,262 (GRCm39)	start codon destroyed	probably null	1.00
R0299:Ap4b1	UTSW	3	103,717,262 (GRCm39)	start codon destroyed	probably null	1.00
R0403:Ap4b1	UTSW	3	103,728,712 (GRCm39)	missense	probably benign	0.00
R0403:Ap4b1	UTSW	3	103,726,155 (GRCm39)	missense	probably damaging	0.99
R1283:Ap4b1	UTSW	3	103,726,177 (GRCm39)	missense	probably damaging	1.00
R1673:Ap4b1	UTSW	3	103,725,161 (GRCm39)	critical splice donor site	probably null
R1797:Ap4b1	UTSW	3	103,726,149 (GRCm39)	missense	possibly damaging	0.92
R1869:Ap4b1	UTSW	3	103,728,184 (GRCm39)	nonsense	probably null
R2925:Ap4b1	UTSW	3	103,727,997 (GRCm39)	missense	probably damaging	1.00
R3905:Ap4b1	UTSW	3	103,726,209 (GRCm39)	missense	possibly damaging	0.94
R4079:Ap4b1	UTSW	3	103,720,694 (GRCm39)	missense	probably damaging	1.00
R4645:Ap4b1	UTSW	3	103,728,765 (GRCm39)	missense	probably benign	0.32
R4786:Ap4b1	UTSW	3	103,726,120 (GRCm39)	missense	probably benign	0.00
R5824:Ap4b1	UTSW	3	103,720,701 (GRCm39)	missense	probably benign	0.30
R6342:Ap4b1	UTSW	3	103,720,684 (GRCm39)	missense	possibly damaging	0.60
R6826:Ap4b1	UTSW	3	103,720,224 (GRCm39)	critical splice donor site	probably null
R6923:Ap4b1	UTSW	3	103,719,530 (GRCm39)	missense	probably benign	0.19
R6974:Ap4b1	UTSW	3	103,720,601 (GRCm39)	nonsense	probably null
R7409:Ap4b1	UTSW	3	103,719,474 (GRCm39)	missense	probably damaging	0.98
R7827:Ap4b1	UTSW	3	103,722,398 (GRCm39)	missense	probably damaging	1.00
R8432:Ap4b1	UTSW	3	103,728,135 (GRCm39)	missense	probably benign	0.00
R8499:Ap4b1	UTSW	3	103,728,018 (GRCm39)	missense	probably damaging	0.98
R8504:Ap4b1	UTSW	3	103,720,116 (GRCm39)	missense	probably damaging	0.99
R8897:Ap4b1	UTSW	3	103,729,065 (GRCm39)	missense	probably benign
R9138:Ap4b1	UTSW	3	103,722,626 (GRCm39)	missense	probably damaging	1.00
R9283:Ap4b1	UTSW	3	103,722,259 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATCTGCTGGCTGTGGGGAAGAAC -3'
(R):5'- CGGCTGATCCTCCAAAAGTCCAAG -3'

Sequencing Primer
(F):5'- GAACAAACTGGTGACTGTCTTCC -3'
(R):5'- GACTTAGGACTACACAGGATCTGC -3'

Posted On

2013-04-11