Mutagenetix > Incidental Mutation

Incidental Mutation 'R4825:Pex5l'

371362

Institutional Source

Beutler Lab

Gene Symbol

Pex5l

Ensembl Gene

ENSMUSG00000027674

Gene Name

peroxisomal biogenesis factor 5-like

Synonyms

Pex2, PXR2, TRIP8b, 1700016J08Rik

MMRRC Submission

042441-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R4825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32949408-33143247 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32992985 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 272 (E272G)

Ref Sequence

ENSEMBL: ENSMUSP00000142196 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000078226
AA Change: E237G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000077353
Gene: ENSMUSG00000027674
AA Change: E237G

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 damaging
Transcript: ENSMUST00000108224
AA Change: E213G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103859
Gene: ENSMUSG00000027674
AA Change: E213G

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 damaging
Transcript: ENSMUST00000108225
AA Change: E237G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103860
Gene: ENSMUSG00000027674
AA Change: E237G

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

possibly damaging
Transcript: ENSMUST00000108226
AA Change: E189G

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103861
Gene: ENSMUSG00000027674
AA Change: E189G

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 damaging
Transcript: ENSMUST00000192093
AA Change: E237G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141387
Gene: ENSMUSG00000027674
AA Change: E237G

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 damaging
Transcript: ENSMUST00000193289
AA Change: E272G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142008
Gene: ENSMUSG00000027674
AA Change: E272G

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 damaging
Transcript: ENSMUST00000193681
AA Change: E272G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000141454
Gene: ENSMUSG00000027674
AA Change: E272G

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 damaging
Transcript: ENSMUST00000194016
AA Change: E272G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142196
Gene: ENSMUSG00000027674
AA Change: E272G

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: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	C	A	11: 109,791,672	L229F	probably benign	Het
A930002H24Rik	A	C	17: 63,863,608	S62A	unknown	Het
Abca12	T	A	1: 71,302,685	Q1039L	possibly damaging	Het
Adgrg5	T	A	8: 94,941,734	F476I	possibly damaging	Het
AI314180	G	A	4: 58,850,911	L421F	probably damaging	Het
Alms1	A	G	6: 85,678,245	K2789E	probably damaging	Het
Arrdc2	G	A	8: 70,839,277		probably null	Het
Atp2b1	T	A	10: 99,009,564	I743K	probably damaging	Het
Atp6v1c2	C	T	12: 17,289,060	G230D	probably benign	Het
AU040320	G	A	4: 126,791,793	C54Y	probably damaging	Het
BC024139	C	T	15: 76,120,317	V680I	possibly damaging	Het
Bckdhb	A	G	9: 83,988,905	D156G	probably damaging	Het
Canx	T	A	11: 50,308,809	D143V	probably benign	Het
Ccdc180	T	A	4: 45,912,794	V591E	possibly damaging	Het
Ccno	T	C	13: 112,988,099	S68P	probably benign	Het
Cdc45	C	T	16: 18,784,863	E527K	probably damaging	Het
Cep290	T	A	10: 100,488,348	D14E	probably damaging	Het
Cgnl1	A	G	9: 71,630,524	V1238A	probably benign	Het
Ciz1	C	T	2: 32,371,741	A455V	probably damaging	Het
Coro2b	T	A	9: 62,454,623	Y86F	probably benign	Het
Csf2ra	C	T	19: 61,226,552	R158Q	probably benign	Het
Cubn	A	T	2: 13,325,225	I2615N	probably damaging	Het
Dhx8	C	T	11: 101,738,170	R129*	probably null	Het
Disc1	T	A	8: 125,135,302	M471K	possibly damaging	Het
Dmxl2	G	T	9: 54,404,041	L1799I	probably benign	Het
Dnah2	A	G	11: 69,423,205	S4108P	probably damaging	Het
Ehmt2	C	G	17: 34,906,964	P211R	probably benign	Het
Eif4g3	A	G	4: 138,194,081	D1557G	probably benign	Het
Epha5	T	C	5: 84,233,840	D384G	probably damaging	Het
Etl4	A	G	2: 20,806,927	I1274V	probably damaging	Het
Fam160a1	G	A	3: 85,673,432	P489S	possibly damaging	Het
Fip1l1	G	A	5: 74,588,205		probably null	Het
Fubp1	T	C	3: 152,217,890		probably null	Het
Glul	T	C	1: 153,903,044	V33A	probably benign	Het
Gm4846	A	G	1: 166,491,668	F167S	probably damaging	Het
Heatr6	T	A	11: 83,758,322	L168M	probably damaging	Het
Hif1a	T	A	12: 73,932,401	I233N	probably damaging	Het
Hivep2	T	A	10: 14,131,319	H1220Q	possibly damaging	Het
Igkv8-21	T	C	6: 70,315,426	I9M	probably benign	Het
Izumo1	T	A	7: 45,624,987	C62*	probably null	Het
Jakmip3	G	A	7: 139,026,766	E424K	probably damaging	Het
Klhl2	A	G	8: 64,752,813	V358A	probably damaging	Het
Klk10	C	G	7: 43,783,598	D139E	probably damaging	Het
Klk14	T	C	7: 43,692,076	C51R	probably damaging	Het
Klk5	T	G	7: 43,845,390	I99S	probably damaging	Het
L3hypdh	T	C	12: 72,077,393	T258A	probably benign	Het
Lrp5	A	G	19: 3,614,292	Y812H	probably damaging	Het
Lrrc40	T	A	3: 158,061,330	L474*	probably null	Het
Mkks	A	T	2: 136,880,655	M194K	probably benign	Het
Mmp20	A	G	9: 7,654,120	D347G	probably damaging	Het
Mmp27	A	G	9: 7,581,194	E460G	probably damaging	Het
Mms22l	T	C	4: 24,536,226	F605S	probably damaging	Het
Mpzl3	A	G	9: 45,068,329	S193G	probably benign	Het
Muc4	A	T	16: 32,751,747	T542S	probably benign	Het
Muc5b	T	C	7: 141,868,465	L4446P	possibly damaging	Het
Mxi1	C	A	19: 53,370,338	S131*	probably null	Het
Nanog	G	T	6: 122,713,340	A210S	probably benign	Het
Nrcam	C	T	12: 44,575,986	Q988*	probably null	Het
Nsg1	C	A	5: 38,159,047		probably benign	Het
Ogfod3	G	A	11: 121,195,201	A189V	probably benign	Het
Olfr1121	T	A	2: 87,372,088	C185*	probably null	Het
Olfr1228	T	C	2: 89,248,690		probably null	Het
Olfr1240	A	G	2: 89,439,865	V138A	probably benign	Het
Olfr1260	G	A	2: 89,978,153	C125Y	probably damaging	Het
Olfr1465	A	T	19: 13,314,320		probably null	Het
Olfr548-ps1	T	A	7: 102,542,380	V148E	possibly damaging	Het
Olfr58	T	G	9: 19,783,576	S148A	possibly damaging	Het
Olfr632	T	C	7: 103,937,503	V41A	probably benign	Het
Olfr920	A	T	9: 38,756,407	T240S	probably damaging	Het
Olfr980	A	T	9: 40,006,742	M69K	possibly damaging	Het
Orc3	A	T	4: 34,571,774	M665K	possibly damaging	Het
Pabpc1	A	G	15: 36,597,011	S591P	probably damaging	Het
Parp6	T	A	9: 59,624,362		probably null	Het
Pcdh1	T	C	18: 38,189,859	M974V	possibly damaging	Het
Pcdhb22	T	A	18: 37,520,660	V727E	possibly damaging	Het
Pglyrp2	G	T	17: 32,418,261	N264K	probably benign	Het
Phxr4	T	A	9: 13,431,586		probably benign	Het
Piezo2	A	G	18: 63,144,954	F293S	probably damaging	Het
Pkhd1	T	C	1: 20,537,401	D1077G	probably damaging	Het
Plekhs1	A	G	19: 56,473,268		probably null	Het
Prex1	G	T	2: 166,585,857	C788*	probably null	Het
Prrt3	A	T	6: 113,498,138	M41K	probably benign	Het
Ptgir	T	C	7: 16,908,843	V326A	probably damaging	Het
Ptprg	T	A	14: 12,220,654	D455E	probably damaging	Het
Ptpru	T	A	4: 131,799,603	Q686L	probably benign	Het
Pxdc1	G	T	13: 34,630,360	T190K	probably benign	Het
Rap1b	A	T	10: 117,818,582	C118S	probably benign	Het
Rapgef2	T	C	3: 79,083,227	M915V	probably benign	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rpe65	C	T	3: 159,624,681	A495V	probably benign	Het
Samd15	A	G	12: 87,200,834	T98A	possibly damaging	Het
Sdk1	T	G	5: 141,582,294	D82E	probably benign	Het
Slc26a7	T	C	4: 14,546,309	D340G	probably benign	Het
Slc6a15	T	A	10: 103,418,060	M619K	probably benign	Het
Slc7a4	C	A	16: 17,574,521	D350Y	probably damaging	Het
Slk	T	G	19: 47,619,956	N449K	probably benign	Het
Spta1	A	T	1: 174,244,042		probably null	Het
Sptbn5	A	T	2: 120,055,893		probably benign	Het
Srd5a2	A	T	17: 74,047,805	V8D	probably benign	Het
Srgap3	G	A	6: 112,727,310	A906V	probably benign	Het
Stab2	A	T	10: 86,947,147	M679K	probably benign	Het
Stk3	T	C	15: 34,999,908	I291V	probably benign	Het
Supt6	T	A	11: 78,208,134	Q1637L	possibly damaging	Het
Svil	T	C	18: 5,114,564	F2047S	probably damaging	Het
Swsap1	A	G	9: 21,955,988	E76G	probably benign	Het
Syndig1	G	T	2: 149,899,553	G20C	probably damaging	Het
Synj2bp	A	T	12: 81,502,152	N104K	probably damaging	Het
Synpo2	T	A	3: 123,114,419	D416V	probably damaging	Het
Tacc3	G	T	5: 33,672,013	C620F	probably damaging	Het
Tanc1	A	G	2: 59,699,422	E19G	probably damaging	Het
Tarsl2	C	T	7: 65,647,554	A139V	probably benign	Het
Tbc1d22a	T	A	15: 86,351,734	C365S	probably damaging	Het
Tdpoz2	T	C	3: 93,652,074	H197R	possibly damaging	Het
Tha1	A	T	11: 117,869,379	N300K	probably damaging	Het
Tm6sf1	T	A	7: 81,865,260	F70L	probably damaging	Het
Tmem132b	T	A	5: 125,783,433	S581T	probably benign	Het
Tmem206	A	T	1: 191,340,843	I154F	probably damaging	Het
Tnfsf13	G	T	11: 69,685,249	S4*	probably null	Het
Tonsl	G	A	15: 76,633,248	S757L	probably benign	Het
Trem2	G	T	17: 48,351,691	R161S	possibly damaging	Het
Trpm2	A	T	10: 77,941,173	V430E	probably damaging	Het
Ttc14	T	A	3: 33,801,369	D154E	possibly damaging	Het
Ugt2b37	T	C	5: 87,250,639	M313V	possibly damaging	Het
Uhrf1bp1	G	A	17: 27,877,394	A107T	probably damaging	Het
Vmn2r24	A	G	6: 123,815,780	I689V	probably benign	Het
Wdr76	A	G	2: 121,542,494	T601A	probably benign	Het
Xirp1	T	C	9: 120,017,003	D938G	possibly damaging	Het
Zfp608	A	T	18: 54,897,969	D966E	probably benign	Het
Zfp957	A	G	14: 79,214,356	M1T	probably null	Het
Zkscan16	A	T	4: 58,957,809	H697L	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
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
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

PCR Primer
(F):5'- ACAACGATCGTCATGTTTTCCC -3'
(R):5'- GAAGGAAATGGCTCAGTGCTTG -3'

Sequencing Primer
(F):5'- CTGCCTGCAGTTCTGTTTTATGTAC -3'
(R):5'- GATCCTGTCTCAGACACTAGAATGG -3'

Posted On

2016-03-01