Mutagenetix > Incidental Mutations

Incidental Mutation 'R7180:Pex5l'

568513

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: 0.501) question?

Stock #

R7180 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32949408-33143247 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 33024691 bp

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674

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

SMART Domains

Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674

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

SMART Domains

Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674

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

SMART Domains

Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674

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

SMART Domains

Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674

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 null
Transcript: ENSMUST00000193289

SMART Domains

Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674

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 null
Transcript: ENSMUST00000193681

SMART Domains

Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674

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 null
Transcript: ENSMUST00000194016

SMART Domains

Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat2	A	C	4: 49,381,803	Y196*	probably null	Het
Agrn	C	T	4: 156,171,839	R1405H	probably benign	Het
Agtpbp1	G	A	13: 59,466,038	H1030Y	probably benign	Het
Ankrd37	C	T	8: 45,999,854		probably benign	Het
Ap1g2	G	C	14: 55,104,451	P218R	probably damaging	Het
Ap2a1	C	T	7: 44,923,804		probably null	Het
Apc2	T	A	10: 80,311,156	D681E	possibly damaging	Het
Arhgef5	T	A	6: 43,275,208	N964K	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
Ccnf	T	A	17: 24,223,915	M773L	probably benign	Het
Ces1e	A	C	8: 93,215,144	S234A	probably damaging	Het
Ces1g	T	A	8: 93,302,948	E552V	probably benign	Het
Ctcfl	A	T	2: 173,105,977		probably null	Het
Dkk2	T	A	3: 132,086,192	S54T	probably damaging	Het
Dll1	A	G	17: 15,374,869	S49P	probably benign	Het
Dscam	C	A	16: 96,825,564	A382S	probably damaging	Het
Eif5b	A	T	1: 38,049,074	M1020L	probably damaging	Het
Enpp4	T	C	17: 44,102,037	D202G	probably benign	Het
Eps8	A	T	6: 137,479,074	I803N	possibly damaging	Het
Etv2	C	A	7: 30,635,649	G28V	probably damaging	Het
Fadd	A	T	7: 144,580,785	V121E	probably damaging	Het
Fam149b	T	C	14: 20,381,785	Y545H	probably benign	Het
Fam196b	A	G	11: 34,419,873	K526E	probably damaging	Het
Fbxl21	A	T	13: 56,523,527	M1L	probably benign	Het
Flg2	T	C	3: 93,202,833	S723P	unknown	Het
Gm4884	C	T	7: 41,044,209	T534I	possibly damaging	Het
Gm8994	T	A	6: 136,329,537	I332N	probably damaging	Het
Gpbar1	A	T	1: 74,278,633	I12F	possibly damaging	Het
Gpr151	A	T	18: 42,578,956	L219*	probably null	Het
Hdgfl2	T	A	17: 56,097,532		probably null	Het
Hectd4	A	G	5: 121,308,342	M200V	probably benign	Het
Idua	A	G	5: 108,680,895	N335S	probably benign	Het
Ifit1bl1	A	T	19: 34,593,902	F385Y	probably damaging	Het
Ift172	T	C	5: 31,254,262	D1624G	probably damaging	Het
Igsf9b	A	T	9: 27,322,668	T388S	possibly damaging	Het
Ikbkap	A	T	4: 56,796,535	S118R	probably damaging	Het
Jak2	A	G	19: 29,282,411	I237V	probably benign	Het
Kat5	C	A	19: 5,603,961	K398N	probably damaging	Het
Lmbrd2	T	A	15: 9,175,196	V398E	possibly damaging	Het
Lrp1	T	C	10: 127,556,965	N2744D	probably damaging	Het
Lrrd1	T	C	5: 3,851,459	I588T	probably damaging	Het
Ltn1	A	G	16: 87,418,494	F418L	probably damaging	Het
Magi1	T	A	6: 93,815,750	D169V	probably benign	Het
Mpdz	T	C	4: 81,335,751	E1048G	probably damaging	Het
Myh9	T	C	15: 77,807,910	I150V	probably benign	Het
Nckap1	A	T	2: 80,506,892	M1006K	probably benign	Het
Nkain1	C	T	4: 130,533,925	V132I	probably benign	Het
Npy6r	A	T	18: 44,276,156	M215L	probably benign	Het
Nr3c2	A	T	8: 76,908,963	Q231L	probably damaging	Het
Obox5	C	T	7: 15,757,924	P88L	probably benign	Het
Olfr514	A	G	7: 108,825,979	S7P	probably damaging	Het
Olfr827	T	C	10: 130,210,942	T63A	probably benign	Het
P2rx7	A	G	5: 122,680,820	D435G	possibly damaging	Het
Pdzd2	T	A	15: 12,376,123	S1309C	probably damaging	Het
Pip	T	A	6: 41,847,631	C18S	probably damaging	Het
Pla2g7	C	T	17: 43,599,076	T157M	probably damaging	Het
Plce1	A	G	19: 38,779,785	Y2168C	probably damaging	Het
Rgs2	T	C	1: 144,002,148	T137A	probably benign	Het
Rpl32	T	A	6: 115,807,807	I31F	possibly damaging	Het
Ryr2	T	C	13: 11,686,978	Y2931C	probably damaging	Het
Slc4a4	G	A	5: 89,046,236	E192K	probably damaging	Het
Slc4a7	G	A	14: 14,765,580	A521T	probably damaging	Het
Smchd1	T	C	17: 71,394,823	E1058G	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Ssc5d	A	G	7: 4,936,601	T679A	probably benign	Het
Tas2r130	A	C	6: 131,630,248	S195A	probably benign	Het
Tas2r135	C	T	6: 42,405,751	R75*	probably null	Het
Terf2ip	G	T	8: 112,011,420		probably benign	Het
Tm6sf2	G	A	8: 70,076,006	R136K	probably benign	Het
Tmprss15	A	G	16: 78,967,998	L858P	probably damaging	Het
Topaz1	A	G	9: 122,797,705	D1466G	possibly damaging	Het
Trip4	A	T	9: 65,857,345	L446Q	probably damaging	Het
Trpv3	G	T	11: 73,277,992	V93L	probably benign	Het
Ubl4b	A	T	3: 107,554,646	H99Q	probably damaging	Het
Unc45a	A	T	7: 80,329,821		probably null	Het
Vmn1r47	G	T	6: 90,022,353	A156S	probably damaging	Het
Vmn2r33	T	A	7: 7,563,897	H72L	probably benign	Het
Zeb1	G	A	18: 5,767,867	V793M	possibly damaging	Het
Zfp628	C	A	7: 4,921,064	Q762K	probably benign	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
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
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'- GTGTGTAGTATGCAAAGTCACAAC -3'
(R):5'- TCACTCATGTCGGATTGCTC -3'

Sequencing Primer
(F):5'- CCATCTACTGGTAAACTGACATATG -3'
(R):5'- GTCGGATTGCTCTTTAAACATTAGCC -3'

Posted On

2019-08-15