Mutagenetix > Incidental Mutations

Incidental Mutation 'R7452:Pex5l'

577783

Institutional Source

Beutler Lab

Gene Symbol

Pex5l

Ensembl Gene

ENSMUSG00000027674

Gene Name

peroxisomal biogenesis factor 5-like

Synonyms

Pex2, PXR2, TRIP8b, 1700016J08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.519) question?

Stock #

R7452 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32949408-33143247 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 33004318 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 262 (V262I)

Ref Sequence

ENSEMBL: ENSMUSP00000142008 (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: V227I

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

SMART Domains

Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: V227I

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: ENSMUST00000108224
AA Change: V203I

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

SMART Domains

Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: V203I

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: V227I

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

SMART Domains

Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: V227I

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: V179I

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: V179I

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: V227I

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

SMART Domains

Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: V227I

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: V262I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: V262I

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: V262I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: V262I

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: V262I

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: V262I

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

100% (75/75)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406P16Rik	A	G	7: 34,245,671	S595P	probably benign	Het
A2m	C	A	6: 121,641,332	Q195K	probably damaging	Het
Abcg4	C	T	9: 44,279,600	G249R	probably damaging	Het
Actn1	T	C	12: 80,183,602	T293A	probably benign	Het
Adamts5	T	A	16: 85,877,981	T432S	probably benign	Het
Adh5	A	G	3: 138,454,745	T347A	probably benign	Het
Agbl5	A	G	5: 30,893,391	D432G	probably damaging	Het
Ank3	A	G	10: 69,899,051	T797A	possibly damaging	Het
Aoc1	T	G	6: 48,908,790	V743G	probably benign	Het
Arap2	A	T	5: 62,676,549	S858R	probably benign	Het
Arid1a	A	C	4: 133,753,127	V162G	possibly damaging	Het
Armc9	A	G	1: 86,213,092	D588G	possibly damaging	Het
Art3	A	G	5: 92,392,680	Y94C	probably damaging	Het
Btaf1	T	A	19: 36,969,127	D444E	probably damaging	Het
Cav2	A	G	6: 17,282,076	H111R	probably damaging	Het
Ccdc148	A	G	2: 58,827,584	L469P	probably damaging	Het
Celsr2	T	A	3: 108,413,090	E802V	possibly damaging	Het
Cfap57	T	C	4: 118,595,784	D574G	probably damaging	Het
Chd7	A	C	4: 8,854,731	D2024A	probably benign	Het
Corin	T	A	5: 72,435,247	D269V	possibly damaging	Het
Cyp4a12a	A	T	4: 115,327,598	I359F	probably damaging	Het
Defb6	T	C	8: 19,225,524	L7P	probably damaging	Het
Dnah7c	A	T	1: 46,647,036	M1817L	possibly damaging	Het
Dock3	A	G	9: 106,989,465	F682S	probably damaging	Het
Enpep	T	A	3: 129,271,403	Y879F	possibly damaging	Het
Enpp2	T	C	15: 54,866,736	N462S	probably damaging	Het
Ephb3	T	C	16: 21,217,357		probably null	Het
F7	C	T	8: 13,035,215	H414Y	probably benign	Het
Fbn1	T	C	2: 125,505,455	H50R	possibly damaging	Het
Fig4	T	C	10: 41,240,637	D586G	possibly damaging	Het
Fryl	A	G	5: 73,023,988	L2825P	probably damaging	Het
Gal3st2	T	A	1: 93,872,518	H30Q	possibly damaging	Het
Gm12886	G	A	4: 121,417,474	Q70*	probably null	Het
Gm8104	A	C	14: 43,110,044	T190P	probably benign	Het
Hps3	A	T	3: 20,011,428	N749K	probably damaging	Het
Hr	A	G	14: 70,571,486	T1101A	probably damaging	Het
Htatip2	T	A	7: 49,773,326	S210T	probably benign	Het
Ift80	T	C	3: 68,994,282		probably null	Het
Iqgap1	A	G	7: 80,760,829	V212A	possibly damaging	Het
Itih5	A	G	2: 10,238,796	E448G	probably damaging	Het
Kdm5b	T	C	1: 134,624,948	C1221R	probably damaging	Het
Lrrc72	T	C	12: 36,212,693	Y52C	probably benign	Het
Map1b	C	T	13: 99,508,140	R85Q	probably damaging	Het
Mdn1	T	C	4: 32,739,030	I3617T	possibly damaging	Het
Mtpap	T	A	18: 4,379,705	H98Q	possibly damaging	Het
Nemf	A	T	12: 69,337,959		probably null	Het
Neto1	A	T	18: 86,498,931	I458L	probably benign	Het
Nfam1	T	A	15: 83,014,962	M128L	probably benign	Het
Olfr1279	A	G	2: 111,306,921	T239A	probably damaging	Het
Olfr1383	C	A	11: 49,524,381	H219Q	probably benign	Het
Olfr501-ps1	C	T	7: 108,508,593	T179I	unknown	Het
Olfr914	A	T	9: 38,607,088	I208F	probably benign	Het
P2ry14	C	T	3: 59,116,045	G7D	probably benign	Het
Pde11a	A	G	2: 76,136,414	Y564H	probably damaging	Het
Poli	A	G	18: 70,508,978	V717A	possibly damaging	Het
Prdm14	A	T	1: 13,125,559	W93R	probably damaging	Het
Rbm46	T	C	3: 82,864,121	M396V	probably benign	Het
Rcor2	T	C	19: 7,271,222	V212A	probably benign	Het
Rcor3	C	A	1: 192,137,876	G8V	probably damaging	Het
Rhox4d	G	A	X: 37,518,992	G191E	unknown	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Skp2	T	A	15: 9,113,832	Q366L	probably damaging	Het
Slc13a3	A	T	2: 165,427,114	S312T	probably benign	Het
Sstr1	T	C	12: 58,213,356	L255P	probably damaging	Het
Steap3	T	C	1: 120,227,855	E458G	possibly damaging	Het
Sv2b	T	A	7: 75,147,713	D311V	probably damaging	Het
Tmem132b	A	G	5: 125,638,268	D347G	probably benign	Het
Tmem161a	A	G	8: 70,177,488	D108G	probably damaging	Het
Traf5	T	A	1: 191,999,831	I47F		Het
Trp53bp2	C	T	1: 182,446,568	Q95*	probably null	Het
Ttn	G	T	2: 76,877,143		probably null	Het
Usf3	T	C	16: 44,220,034	S1626P	probably benign	Het
Usp3	T	C	9: 66,566,898	R33G	probably benign	Het
Zbtb20	G	T	16: 43,610,676	A517S	probably 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
IGL02313:Pex5l	APN	3	32992992	missense	probably benign	0.22
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	splice site	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
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
R8143:Pex5l	UTSW	3	33082509	start gained	probably benign
R8242:Pex5l	UTSW	3	33006035	missense	probably benign	0.01
Z1177:Pex5l	UTSW	3	33007159	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTCTAAGCACCGAGACAGC -3'
(R):5'- TGCCCACAATTCAACTGGAC -3'

Sequencing Primer
(F):5'- TTCTAAGCACCGAGACAGCTATGG -3'
(R):5'- AGATTCTGGAAGTGGCAGTTATG -3'

Posted On

2019-10-07