Mutagenetix > Incidental Mutation

Incidental Mutation 'R8897:Ap4b1'

678083

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

Accession Numbers

Essential gene?

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

Stock #

R8897 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103716836-103729341 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103729065 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 736 (I736L)

Ref Sequence

ENSEMBL: ENSMUSP00000044262 (fasta)

Gene Model

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

AlphaFold

Q9WV76

Predicted Effect

probably benign
Transcript: ENSMUST00000047285
AA Change: I736L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000044262
Gene: ENSMUSG00000032952
AA Change: I736L

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

probably benign
Transcript: ENSMUST00000076599
AA Change: I736L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075904
Gene: ENSMUSG00000032952
AA Change: I736L

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

probably benign
Transcript: ENSMUST00000106823
AA Change: I708L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000102436
Gene: ENSMUSG00000032952
AA Change: I708L

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

probably benign
Transcript: ENSMUST00000106824
AA Change: I661L

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

SMART Domains

Protein: ENSMUSP00000102437
Gene: ENSMUSG00000032952
AA Change: I661L

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

probably benign
Transcript: ENSMUST00000199710
AA Change: I661L

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

SMART Domains

Protein: ENSMUSP00000143463
Gene: ENSMUSG00000105053
AA Change: I661L

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: ENSMUST00000200377
AA Change: I568L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000143355
Gene: ENSMUSG00000032952
AA Change: I568L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	A	18: 6,635,934 (GRCm39)	L329Q	probably damaging	Het
Adam26b	A	T	8: 43,974,009 (GRCm39)	M331K	possibly damaging	Het
Ak3	T	C	19: 29,025,118 (GRCm39)	S38G	probably damaging	Het
Ankrd10	A	T	8: 11,665,788 (GRCm39)	C271S	possibly damaging	Het
Ap1s3	A	G	1: 79,601,494 (GRCm39)	Y66H	probably damaging	Het
Arpp19	T	A	9: 74,963,948 (GRCm39)	M67K	possibly damaging	Het
Brf1	T	G	12: 112,951,589 (GRCm39)	H130P	probably damaging	Het
Cacna1s	C	G	1: 136,045,392 (GRCm39)	T1680S	probably benign	Het
Cckar	C	T	5: 53,864,583 (GRCm39)		probably benign	Het
Cd93	T	C	2: 148,283,532 (GRCm39)	K605E	probably benign	Het
Cdcp3	T	C	7: 130,867,566 (GRCm39)	M1409T	unknown	Het
Ces1h	C	T	8: 94,080,093 (GRCm39)	V474I	unknown	Het
Cfap70	A	T	14: 20,493,669 (GRCm39)		probably null	Het
Ch25h	G	A	19: 34,452,441 (GRCm39)	T29I	possibly damaging	Het
Csmd3	T	A	15: 48,222,739 (GRCm39)	T329S	probably benign	Het
Cux1	T	C	5: 136,315,623 (GRCm39)	N1139S	probably damaging	Het
Cyp2j6	G	T	4: 96,414,087 (GRCm39)	H393N	probably benign	Het
Cyp8b1	C	A	9: 121,745,358 (GRCm39)		probably benign	Het
Dchs2	T	G	3: 83,036,720 (GRCm39)	L489R	probably damaging	Het
Dip2a	T	C	10: 76,110,098 (GRCm39)	T1173A	probably benign	Het
Exoc3l2	T	G	7: 19,203,931 (GRCm39)		probably null	Het
Fastkd3	G	A	13: 68,732,303 (GRCm39)	R208H	probably damaging	Het
Fbxo16	C	A	14: 65,531,287 (GRCm39)	R64S	probably benign	Het
Frem3	A	T	8: 81,339,419 (GRCm39)	I571F	probably damaging	Het
Ftsj3	T	A	11: 106,144,602 (GRCm39)	D129V	probably damaging	Het
Gm6370	A	G	5: 146,430,447 (GRCm39)	T211A	probably benign	Het
Gpr171	A	T	3: 59,005,116 (GRCm39)	S220T	probably benign	Het
Gsta3	T	C	1: 21,330,370 (GRCm39)	I124T	probably benign	Het
Hydin	A	G	8: 111,316,112 (GRCm39)	I4335V	probably benign	Het
Ift80	T	C	3: 68,857,809 (GRCm39)	I279V	probably benign	Het
Ighv1-13	T	A	12: 114,594,439 (GRCm39)	M47K	unknown	Het
Il22ra2	A	G	10: 19,507,401 (GRCm39)	N138S	probably damaging	Het
Impact	A	G	18: 13,123,551 (GRCm39)	D298G	probably benign	Het
Ipo7	T	C	7: 109,643,943 (GRCm39)		probably null	Het
Kif5b	T	C	18: 6,225,437 (GRCm39)	N198D	probably damaging	Het
Klhl36	A	G	8: 120,597,279 (GRCm39)	T327A	probably benign	Het
Lepr	A	G	4: 101,649,233 (GRCm39)	N878S	probably damaging	Het
Lpxn	T	A	19: 12,802,525 (GRCm39)	F244L	probably damaging	Het
Lrriq4	C	A	3: 30,709,807 (GRCm39)	L384I	probably damaging	Het
Ltbp4	A	C	7: 27,026,119 (GRCm39)	I629S	probably benign	Het
Lypd5	T	C	7: 24,051,015 (GRCm39)	V42A	probably benign	Het
Mc4r	A	G	18: 66,992,304 (GRCm39)	S270P	probably damaging	Het
Mctp2	T	G	7: 71,909,311 (GRCm39)	M1L	probably benign	Het
Myh4	G	A	11: 67,137,362 (GRCm39)	E528K	possibly damaging	Het
Nes	T	A	3: 87,886,653 (GRCm39)	H1637Q	possibly damaging	Het
Or4f7	T	C	2: 111,644,576 (GRCm39)	D165G	probably benign	Het
Or5g25	A	T	2: 85,478,187 (GRCm39)	H159Q	possibly damaging	Het
Or8b3b	C	T	9: 38,584,147 (GRCm39)	V198I	probably damaging	Het
Pan3	T	C	5: 147,387,472 (GRCm39)	M147T	probably benign	Het
Pcdhga6	G	T	18: 37,841,642 (GRCm39)	R454L	probably benign	Het
Pdss2	A	G	10: 43,221,663 (GRCm39)	S192G	probably damaging	Het
Pld6	A	T	11: 59,678,382 (GRCm39)	M27K	probably benign	Het
Plec	C	T	15: 76,057,598 (GRCm39)	R4113H	probably damaging	Het
Ptprk	T	C	10: 28,467,953 (GRCm39)	S1379P	probably damaging	Het
Rapgef2	T	C	3: 79,019,566 (GRCm39)	H35R	probably damaging	Het
Rasgrp2	A	G	19: 6,453,100 (GRCm39)	T75A	probably benign	Het
Rexo1	A	G	10: 80,378,437 (GRCm39)	L1172P	probably damaging	Het
Rfx7	C	T	9: 72,525,123 (GRCm39)	S771L	probably benign	Het
Rpap3	A	G	15: 97,585,998 (GRCm39)	I331T	probably benign	Het
Scn2a	A	G	2: 65,546,002 (GRCm39)		probably null	Het
Sec23ip	T	A	7: 128,354,467 (GRCm39)	V241D	probably benign	Het
Sez6l	C	A	5: 112,588,744 (GRCm39)	Q656H	possibly damaging	Het
Sh3gl2	A	T	4: 85,273,597 (GRCm39)	I50L	probably benign	Het
Tab2	T	C	10: 7,786,897 (GRCm39)	D605G	probably damaging	Het
Tas2r110	T	A	6: 132,845,374 (GRCm39)	V135D	probably damaging	Het
Thap12	T	C	7: 98,364,534 (GRCm39)	M234T	probably benign	Het
Trhr	C	A	15: 44,060,736 (GRCm39)	D85E	probably benign	Het
Trim67	A	G	8: 125,552,718 (GRCm39)	I607V	probably benign	Het
Trpm4	C	T	7: 44,960,055 (GRCm39)	C760Y	probably benign	Het
Ttll9	T	C	2: 152,844,841 (GRCm39)	V403A	probably damaging	Het
Uhrf1	T	C	17: 56,617,817 (GRCm39)	Y180H	probably damaging	Het
Unc119b	C	T	5: 115,272,977 (GRCm39)		probably benign	Het
Vmn2r44	T	A	7: 8,381,242 (GRCm39)	D217V	probably damaging	Het
Zfp521	C	A	18: 13,979,137 (GRCm39)	L425F	probably damaging	Het
Zscan4-ps3	A	T	7: 11,346,767 (GRCm39)	R268*	probably null	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
R0090:Ap4b1	UTSW	3	103,727,745 (GRCm39)	missense	possibly damaging	0.91
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
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'- TGGAAAGCCTACCTCAGTGC -3'
(R):5'- AGAGAAGTGTCCCCAGCCTATC -3'

Sequencing Primer
(F):5'- ACCTCAGTGCTCAGGATGATACTG -3'
(R):5'- GAAGTGTCCCCAGCCTATCTTCAC -3'

Posted On

2021-08-02