Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02313:Pex5l'

287902

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pex5l

Ensembl Gene

ENSMUSG00000027674

Gene Name

peroxisomal biogenesis factor 5-like

Synonyms

Pex2, PXR2, TRIP8b, 1700016J08Rik

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.510) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

32949408-33143247 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32992992 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 270 (T270A)

Ref Sequence

ENSEMBL: ENSMUSP00000142196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078226] [ENSMUST00000108224] [ENSMUST00000108225] [ENSMUST00000108226] [ENSMUST00000192093] [ENSMUST00000193289] [ENSMUST00000193681] [ENSMUST00000194016]

Predicted Effect

probably benign
Transcript: ENSMUST00000078226
AA Change: T235A

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: T235A

Domain	Start	End	E-Value	Type
low complexity region	113	129	N/A	INTRINSIC
low complexity region	214	228	N/A	INTRINSIC
TPR	349	382	6.95e-4	SMART
Blast:TPR	383	416	4e-14	BLAST
TPR	463	496	3.19e-3	SMART
TPR	497	530	3.47e-4	SMART
TPR	531	564	1.1e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108219

SMART Domains

Protein: ENSMUSP00000103854
Gene: ENSMUSG00000027674

Domain	Start	End	E-Value	Type
low complexity region	124	140	N/A	INTRINSIC
low complexity region	226	240	N/A	INTRINSIC
PDB:4EQF\|A	266	362	8e-64	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000108224
AA Change: T211A

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: T211A

Domain	Start	End	E-Value	Type
low complexity region	88	104	N/A	INTRINSIC
low complexity region	190	204	N/A	INTRINSIC
TPR	325	358	6.95e-4	SMART
Blast:TPR	359	392	2e-14	BLAST
TPR	439	472	3.19e-3	SMART
TPR	473	506	3.47e-4	SMART
TPR	507	540	1.1e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108225
AA Change: T235A

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: T235A

Domain	Start	End	E-Value	Type
low complexity region	113	129	N/A	INTRINSIC
low complexity region	214	228	N/A	INTRINSIC
TPR	349	382	6.95e-4	SMART
Blast:TPR	383	416	4e-14	BLAST
TPR	463	496	3.19e-3	SMART
TPR	497	530	3.47e-4	SMART
TPR	531	564	1.1e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108226
AA Change: T187A

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: T187A

Domain	Start	End	E-Value	Type
low complexity region	65	81	N/A	INTRINSIC
low complexity region	166	180	N/A	INTRINSIC
TPR	301	334	6.95e-4	SMART
Blast:TPR	335	368	2e-14	BLAST
TPR	415	448	3.19e-3	SMART
TPR	449	482	3.47e-4	SMART
TPR	483	516	1.1e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000192093
AA Change: T235A

PolyPhen 2 Score 0.182 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: T235A

Domain	Start	End	E-Value	Type
low complexity region	113	129	N/A	INTRINSIC
low complexity region	214	228	N/A	INTRINSIC
TPR	349	382	6.95e-4	SMART
Blast:TPR	383	416	4e-14	BLAST
TPR	463	496	3.19e-3	SMART
TPR	497	530	3.47e-4	SMART
TPR	531	564	1.1e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193289
AA Change: T270A

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: T270A

Domain	Start	End	E-Value	Type
low complexity region	148	164	N/A	INTRINSIC
low complexity region	249	263	N/A	INTRINSIC
TPR	384	417	6.95e-4	SMART
Blast:TPR	418	451	4e-14	BLAST
TPR	498	531	3.19e-3	SMART
TPR	532	565	3.47e-4	SMART
TPR	566	599	1.1e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000193681
AA Change: T270A

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: T270A

Domain	Start	End	E-Value	Type
low complexity region	148	164	N/A	INTRINSIC
low complexity region	249	263	N/A	INTRINSIC
TPR	384	417	6.95e-4	SMART
Blast:TPR	418	451	4e-14	BLAST
TPR	498	531	3.19e-3	SMART
TPR	532	565	3.47e-4	SMART
TPR	566	599	1.1e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000194016
AA Change: T270A

PolyPhen 2 Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: T270A

Domain	Start	End	E-Value	Type
low complexity region	148	164	N/A	INTRINSIC
low complexity region	249	263	N/A	INTRINSIC
TPR	384	417	6.95e-4	SMART
Blast:TPR	418	451	4e-14	BLAST
TPR	498	531	3.19e-3	SMART
TPR	532	565	3.47e-4	SMART
TPR	566	599	1.1e-1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a targeted mutation lacking isoform b exhibit exhibit reduced hyperpolarization-activated current in CA1 pyramidal neuron, impaired motor learning, impaired nest-building, decreased startle reflex, and decreased depression-related behaviors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,947,934	N136K	probably damaging	Het
Aph1b	A	T	9: 66,790,673		probably benign	Het
Atf7ip	A	G	6: 136,606,720	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,949,853	N400S	probably damaging	Het
Brca2	C	A	5: 150,538,661	S630Y	probably damaging	Het
Chd6	T	A	2: 160,965,675	E1873V	probably damaging	Het
Chrna10	T	C	7: 102,112,029		probably benign	Het
Col6a3	A	G	1: 90,811,606	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,810,705	N264S	probably damaging	Het
Dgkg	A	G	16: 22,570,230		probably benign	Het
Dpysl2	T	G	14: 66,824,390	M256L	probably benign	Het
Dsp	G	T	13: 38,196,523	E1816*	probably null	Het
Fam129c	A	G	8: 71,602,860	R305G	possibly damaging	Het
Fam13b	T	C	18: 34,454,656	K530E	probably damaging	Het
Fam49a	A	G	12: 12,364,751	T248A	possibly damaging	Het
Fastk	T	C	5: 24,443,092	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,337,352	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,778,892	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,453,605	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,508,389	T167A	probably benign	Het
Igsf10	A	G	3: 59,330,690	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,866		probably null	Het
Krt31	A	G	11: 100,048,396	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,516,088		probably benign	Het
Mfn2	T	A	4: 147,885,490	I375F	probably damaging	Het
Mfrp	A	T	9: 44,102,874	I180F	probably damaging	Het
Msh3	T	C	13: 92,349,312	E168G	possibly damaging	Het
Naa16	A	T	14: 79,384,668	V77D	probably damaging	Het
Nav2	T	C	7: 49,558,773	S1570P	probably damaging	Het
Numa1	C	T	7: 102,000,232	R1057*	probably null	Het
Nup210l	G	A	3: 90,122,792	A271T	probably damaging	Het
Ogdh	T	C	11: 6,355,400	V965A	probably damaging	Het
Olfr63	C	A	17: 33,269,665	Q314K	probably benign	Het
Olfr734	A	T	14: 50,320,016	V273E	probably damaging	Het
Olfr818	A	G	10: 129,945,903	L53P	probably damaging	Het
Olfr836	A	T	9: 19,121,375	N140I	probably damaging	Het
Olfr916	T	A	9: 38,658,066	I109F	probably damaging	Het
Pdp2	A	T	8: 104,594,899	Q460L	probably benign	Het
Pkp4	C	T	2: 59,310,254	Q435*	probably null	Het
Prss32	G	A	17: 23,856,122	V149M	probably benign	Het
Riox2	C	A	16: 59,489,417	P378Q	probably benign	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,905,525	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,824,755	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,675,500	G54*	probably null	Het
Slc24a5	C	T	2: 125,085,647		probably benign	Het
Tex101	C	T	7: 24,668,325	V201M	probably damaging	Het
Tmprss7	T	C	16: 45,681,593	Y223C	probably damaging	Het
Trpc4ap	T	C	2: 155,650,468	E382G	probably damaging	Het
Uggt1	A	T	1: 36,184,484	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,565,168	I259V	probably damaging	Het
Xpo1	T	A	11: 23,277,065	N131K	probably damaging	Het
Zfp579	C	T	7: 4,994,433	V160M	probably benign	Het
Zfp697	A	G	3: 98,425,450	D64G	probably benign	Het
Zfp974	T	C	7: 27,912,253	T16A	possibly damaging	Het

Other mutations in Pex5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Pex5l	APN	3	32952597	missense	probably damaging	1.00
IGL01621:Pex5l	APN	3	33014961	splice site	probably null
IGL01813:Pex5l	APN	3	33082055	missense	probably benign	0.02
IGL02508:Pex5l	APN	3	32992902	splice site	probably benign
IGL02997:Pex5l	APN	3	32955842	splice site	probably benign
R0195:Pex5l	UTSW	3	32992953	missense	possibly damaging	0.87
R0674:Pex5l	UTSW	3	32952616	missense	probably damaging	1.00
R0729:Pex5l	UTSW	3	32954536	splice site	probably benign
R1500:Pex5l	UTSW	3	33014980	missense	probably damaging	1.00
R1513:Pex5l	UTSW	3	33015013	nonsense	probably null
R1695:Pex5l	UTSW	3	32954382	missense	probably benign	0.28
R1850:Pex5l	UTSW	3	32950876	splice site	probably null
R2165:Pex5l	UTSW	3	32953132	synonymous	probably null
R2679:Pex5l	UTSW	3	33082052	missense	probably benign	0.02
R2880:Pex5l	UTSW	3	32993003	critical splice acceptor site	probably null
R2881:Pex5l	UTSW	3	32993003	critical splice acceptor site	probably null
R3766:Pex5l	UTSW	3	33007178	missense	probably benign	0.01
R3780:Pex5l	UTSW	3	32950844	missense	probably damaging	1.00
R3934:Pex5l	UTSW	3	33007172	missense	probably damaging	1.00
R3975:Pex5l	UTSW	3	33015015	missense	probably damaging	0.99
R4285:Pex5l	UTSW	3	33007187	missense	probably damaging	1.00
R4825:Pex5l	UTSW	3	32992985	missense	probably damaging	0.99
R4855:Pex5l	UTSW	3	33142840	splice site	probably benign
R4868:Pex5l	UTSW	3	32952490	missense	probably damaging	1.00
R5135:Pex5l	UTSW	3	32955831	missense	probably damaging	1.00
R5217:Pex5l	UTSW	3	33007328	splice site	probably null
R5223:Pex5l	UTSW	3	32958796	missense	probably damaging	1.00
R5362:Pex5l	UTSW	3	32992916	missense	probably damaging	1.00
R5398:Pex5l	UTSW	3	32952490	missense	probably damaging	1.00
R5829:Pex5l	UTSW	3	33005990	missense	probably benign	0.00
R6731:Pex5l	UTSW	3	32958798	missense	probably damaging	1.00
R7180:Pex5l	UTSW	3	33024691	splice site	probably null
R7452:Pex5l	UTSW	3	33004318	missense	probably benign	0.02
R7549:Pex5l	UTSW	3	33082035	missense	probably benign	0.04
R7563:Pex5l	UTSW	3	32954476	missense	probably damaging	0.98
R7757:Pex5l	UTSW	3	33082151	start gained	probably benign
R8030:Pex5l	UTSW	3	32954419	missense	possibly damaging	0.93
Z1177:Pex5l	UTSW	3	33007159	missense	probably damaging	0.98

Posted On

2015-04-16