Mutagenetix > Incidental Mutation

Incidental Mutation 'R2165:Pex5l'

266084

Institutional Source

Beutler Lab

Gene Symbol

Pex5l

Ensembl Gene

ENSMUSG00000027674

Gene Name

peroxisomal biogenesis factor 5-like

Synonyms

Pex2, PXR2, TRIP8b, 1700016J08Rik

MMRRC Submission

040168-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.537) question?

Stock #

R2165 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32949408-33143247 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 32953132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078226] [ENSMUST00000108221] [ENSMUST00000108224] [ENSMUST00000108225] [ENSMUST00000108226] [ENSMUST00000192093] [ENSMUST00000193289] [ENSMUST00000193681] [ENSMUST00000194016]

AlphaFold

no structure available at present

Predicted Effect

probably null
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

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 null
Transcript: ENSMUST00000108221

SMART Domains

Protein: ENSMUSP00000103856
Gene: ENSMUSG00000027674

Domain	Start	End	E-Value	Type
TPR	78	111	6.95e-4	SMART
Blast:TPR	112	145	2e-14	BLAST
TPR	192	225	3.19e-3	SMART
TPR	226	259	3.47e-4	SMART
TPR	260	293	1.1e-1	SMART

Predicted Effect

probably null
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 null
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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000192259

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: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (71/72)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,112,399	T806A	possibly damaging	Het
Adgre1	T	G	17: 57,419,338	L403R	probably damaging	Het
AF067061	A	T	13: 120,264,097	Q99L	probably damaging	Het
Alox12	A	T	11: 70,242,572		probably null	Het
Ankib1	A	T	5: 3,713,210	D506E	possibly damaging	Het
Ascc3	T	G	10: 50,721,839	Y1268D	probably damaging	Het
Bik	A	G	15: 83,541,423	M42V	probably benign	Het
Bola1	A	T	3: 96,197,201	S26T	probably benign	Het
Bub1	T	C	2: 127,801,281	I1048V	probably benign	Het
Cad	A	G	5: 31,062,220	N621S	probably damaging	Het
Camkv	C	A	9: 107,945,600	N69K	possibly damaging	Het
Ccdc110	T	C	8: 45,942,839	M589T	probably benign	Het
Ccdc154	T	A	17: 25,170,890	V498E	probably damaging	Het
Ccr1l1	A	G	9: 123,977,654	L252P	probably damaging	Het
Cdh1	T	C	8: 106,664,321	C690R	probably damaging	Het
Cfap157	T	G	2: 32,778,163		probably null	Het
Cux2	A	G	5: 121,887,477	S43P	possibly damaging	Het
Cyb5rl	C	T	4: 107,068,683	P21S	probably damaging	Het
Cyp51	T	G	5: 4,086,594	Q400P	probably damaging	Het
Dnah7b	T	C	1: 46,097,992		probably benign	Het
Ephb4	A	G	5: 137,354,426	I90M	probably benign	Het
Fam13c	A	G	10: 70,542,693	N269S	probably damaging	Het
Fam83c	T	A	2: 155,831,524	Y248F	possibly damaging	Het
Fat2	A	G	11: 55,303,716	F1166L	probably benign	Het
Fem1a	A	G	17: 56,257,686	N260D	probably benign	Het
Fnbp4	T	A	2: 90,767,399		probably null	Het
Fut9	T	A	4: 25,619,733	*360Y	probably null	Het
Fut9	T	A	4: 25,619,734	*360L	probably null	Het
Gm11639	G	A	11: 104,751,862	V1104I	possibly damaging	Het
Gm3727	T	A	14: 7,264,625	Q10L	probably damaging	Het
Gpat2	G	A	2: 127,428,291	V75M	probably damaging	Het
Haspin	A	C	11: 73,136,630	N544K	probably damaging	Het
Havcr1	A	G	11: 46,778,552	N286S	probably benign	Het
Lrp6	A	C	6: 134,459,283	C1307G	probably damaging	Het
Lrrc2	A	C	9: 110,979,577	H294P	possibly damaging	Het
Mon2	A	C	10: 123,042,364		probably null	Het
Mrc2	G	A	11: 105,348,431		probably null	Het
Mrgprb1	T	C	7: 48,447,322	I281V	probably benign	Het
Muc4	A	G	16: 32,750,476	E118G	probably damaging	Het
Nefh	T	C	11: 4,943,872	D394G	probably damaging	Het
Neurl4	A	G	11: 69,903,221	T168A	probably benign	Het
Olfr347	T	A	2: 36,734,701	C127S	probably damaging	Het
Olfr642	T	C	7: 104,049,638	T239A	probably benign	Het
Olfr982	A	G	9: 40,074,915	N207D	possibly damaging	Het
Olfr987	A	T	2: 85,331,102	N265K	probably benign	Het
Oxsr1	A	C	9: 119,294,432	M92R	probably damaging	Het
Pde8a	T	C	7: 81,295,768		probably null	Het
Pik3r4	T	A	9: 105,672,785	M1025K	probably benign	Het
Plch1	C	T	3: 63,698,482	E1325K	probably benign	Het
Plin2	A	T	4: 86,668,432	V54E	probably damaging	Het
Pqlc3	G	A	12: 16,989,839	L192F	probably damaging	Het
Prss47	A	T	13: 65,045,073	I298N	probably damaging	Het
Prune2	A	G	19: 17,120,182	R1017G	probably benign	Het
Psg19	T	A	7: 18,796,986	Y81F	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Rrnad1	A	T	3: 87,927,053		probably null	Het
Serpinb1a	T	C	13: 32,850,414		probably benign	Het
Sh3pxd2a	A	T	19: 47,278,355	V265E	probably damaging	Het
Slc22a17	A	T	14: 54,908,825	Y337*	probably null	Het
Slc25a27	A	G	17: 43,657,772	V138A	probably benign	Het
Slc4a2	A	G	5: 24,431,316	Y220C	probably damaging	Het
Stab1	A	T	14: 31,168,435	S20T	probably benign	Het
Thsd1	G	T	8: 22,238,522		probably benign	Het
Tmem204	G	A	17: 25,080,592		probably benign	Het
Tom1l1	A	G	11: 90,649,895		probably benign	Het
Toporsl	T	A	4: 52,612,072	F655Y	possibly damaging	Het
Vmn2r98	A	G	17: 19,081,291	K852E	unknown	Het
Wdpcp	T	G	11: 21,691,884	L174R	probably damaging	Het
Zbbx	G	A	3: 75,112,107	P99S	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het
Zfp600	A	T	4: 146,196,918	R719*	probably null	Het
Zfp697	C	A	3: 98,428,014	A365E	unknown	Het
Zfp957	A	C	14: 79,213,613	S249A	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
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
R8143:Pex5l	UTSW	3	33082509	start gained	probably benign
R8242:Pex5l	UTSW	3	33006035	missense	probably benign	0.01
R8919:Pex5l	UTSW	3	32953184	missense	probably damaging	1.00
R9034:Pex5l	UTSW	3	32952534	missense	probably damaging	0.99
R9422:Pex5l	UTSW	3	33082252	start gained	probably benign
R9585:Pex5l	UTSW	3	33005942	missense	probably benign
R9654:Pex5l	UTSW	3	32956678	missense	probably benign	0.08
R9711:Pex5l	UTSW	3	33082055	missense	probably benign	0.02
Z1177:Pex5l	UTSW	3	33007159	missense	probably damaging	0.98

Predicted Primers

Posted On

2015-02-05