Mutagenetix > Incidental Mutation

Incidental Mutation 'R1529:Hnrnpl'

166461

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpl

Ensembl Gene

ENSMUSG00000015165

Gene Name

heterogeneous nuclear ribonucleoprotein L

Synonyms

Hnrpl, D830027H13Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1529 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

28507971-28521693 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 28513348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 149 (N149K)

Ref Sequence

ENSEMBL: ENSMUSP00000133728 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038572] [ENSMUST00000172529] [ENSMUST00000172884] [ENSMUST00000174548] [ENSMUST00000174882]

AlphaFold

Q8R081

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038572
AA Change: N149K

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000049407
Gene: ENSMUSG00000015165
AA Change: N149K

Domain	Start	End	E-Value	Type
low complexity region	3	57	N/A	INTRINSIC
low complexity region	71	86	N/A	INTRINSIC
RRM	100	169	9.8e-9	SMART
RRM	191	261	4.75e-7	SMART
low complexity region	314	339	N/A	INTRINSIC
low complexity region	356	374	N/A	INTRINSIC
RRM	380	449	5.09e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172529
AA Change: N19K

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133932
Gene: ENSMUSG00000015165
AA Change: N19K

Domain	Start	End	E-Value	Type
Blast:RRM	1	39	9e-20	BLAST
RRM	61	131	4.75e-7	SMART
low complexity region	184	209	N/A	INTRINSIC
low complexity region	226	244	N/A	INTRINSIC
RRM	250	319	5.09e-7	SMART
Blast:RRM_2	369	442	6e-17	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172841

Predicted Effect

probably benign
Transcript: ENSMUST00000172884
AA Change: N19K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134271
Gene: ENSMUSG00000015165
AA Change: N19K

Domain	Start	End	E-Value	Type
Blast:RRM	1	39	1e-21	BLAST
SCOP:d1qm9a1	3	61	3e-3	SMART
Pfam:RRM_6	67	113	5.7e-5	PFAM
Pfam:RRM_1	70	113	1.3e-5	PFAM
Pfam:RRM_5	78	113	9.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173578

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173750

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173818

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174548
AA Change: N149K

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133728
Gene: ENSMUSG00000015165
AA Change: N149K

Domain	Start	End	E-Value	Type
low complexity region	3	57	N/A	INTRINSIC
low complexity region	71	86	N/A	INTRINSIC
RRM	100	169	9.8e-9	SMART
RRM	191	261	4.75e-7	SMART
low complexity region	314	339	N/A	INTRINSIC
low complexity region	356	374	N/A	INTRINSIC
RRM	380	449	5.09e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000174882
AA Change: N41K

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

SMART Domains

Protein: ENSMUSP00000133952
Gene: ENSMUSG00000015165
AA Change: N41K

Domain	Start	End	E-Value	Type
RRM	1	61	5.18e-1	SMART
RRM	83	153	4.75e-7	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000174477
AA Change: N140K

SMART Domains

Protein: ENSMUSP00000134734
Gene: ENSMUSG00000015165
AA Change: N140K

Domain	Start	End	E-Value	Type
low complexity region	4	49	N/A	INTRINSIC
low complexity region	63	78	N/A	INTRINSIC
RRM	92	161	9.8e-9	SMART
RRM	183	253	4.75e-7	SMART
low complexity region	339	368	N/A	INTRINSIC
low complexity region	385	403	N/A	INTRINSIC
RRM	409	478	5.09e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174755

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209194

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174396

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Heterogeneous nuclear RNAs (hnRNAs) which include mRNA precursors and mature mRNAs are associated with specific proteins to form heterogenous ribonucleoprotein (hnRNP) complexes. Heterogeneous nuclear ribonucleoprotein L is among the proteins that are stably associated with hnRNP complexes and along with other hnRNP proteins is likely to play a major role in the formation, packaging, processing, and function of mRNA. Heterogeneous nuclear ribonucleoprotein L is present in the nucleoplasm as part of the HNRP complex. HNRP proteins have also been identified outside of the nucleoplasm. Exchange of hnRNP for mRNA-binding proteins accompanies transport of mRNA from the nucleus to the cytoplasm. Since HNRP proteins have been shown to shuttle between the nucleus and the cytoplasm, it is possible that they also have cytoplasmic functions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted allele exhibit embryonic letahlity after E3.5. Mice homozygous for a conditional allele activated in thymocytes exhibit decreased T cells in the periphery associated with impaired thymocyte chemotaxis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	C	3: 59,768,533 (GRCm39)	I21T	probably benign	Het
Adam11	T	C	11: 102,665,939 (GRCm39)		probably null	Het
Amd1	A	T	10: 40,166,501 (GRCm39)	M194K	probably benign	Het
Ap1b1	T	G	11: 4,989,547 (GRCm39)	F793C	probably damaging	Het
Arfgef3	G	A	10: 18,488,970 (GRCm39)	R1292*	probably null	Het
Arhgef5	C	A	6: 43,256,449 (GRCm39)	H1186N	probably damaging	Het
Atad1	A	G	19: 32,684,321 (GRCm39)	F26L	probably benign	Het
Atg2b	C	T	12: 105,627,392 (GRCm39)	V532I	probably benign	Het
Atp2b4	A	G	1: 133,645,726 (GRCm39)	F943L	probably damaging	Het
Atp7b	G	A	8: 22,518,740 (GRCm39)	L21F	possibly damaging	Het
Ccdc9b	T	A	2: 118,592,241 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,392,235 (GRCm39)	D532E	probably benign	Het
Cimip3	G	A	17: 47,724,815 (GRCm39)	S102L	probably benign	Het
Ckmt2	A	T	13: 92,009,320 (GRCm39)	D202E	probably benign	Het
Crim1	A	C	17: 78,675,383 (GRCm39)	K864T	probably benign	Het
Ctnnd2	A	G	15: 30,887,267 (GRCm39)	R765G	possibly damaging	Het
Ddx10	T	A	9: 53,028,499 (GRCm39)	R802*	probably null	Het
Dnah7b	T	A	1: 46,216,441 (GRCm39)	F1152L	probably damaging	Het
Dsg1c	T	C	18: 20,415,080 (GRCm39)	L659P	probably damaging	Het
Dzank1	A	G	2: 144,324,108 (GRCm39)	F577L	probably benign	Het
Eci3	T	C	13: 35,140,903 (GRCm39)	D93G	probably benign	Het
Ecpas	T	C	4: 58,832,701 (GRCm39)		probably null	Het
Ep400	C	A	5: 110,887,311 (GRCm39)	V591L	probably benign	Het
Fgd3	T	C	13: 49,420,170 (GRCm39)	N569S	probably benign	Het
Ghsr	T	A	3: 27,426,631 (GRCm39)	V229E	probably damaging	Het
Gna15	T	A	10: 81,345,176 (GRCm39)	I230F	probably damaging	Het
Gnl2	A	G	4: 124,940,099 (GRCm39)	S324G	probably damaging	Het
Grid1	T	C	14: 35,031,250 (GRCm39)	V281A	probably benign	Het
Hebp2	G	A	10: 18,421,509 (GRCm39)	A12V	possibly damaging	Het
Hfm1	T	C	5: 107,000,989 (GRCm39)	D1254G	probably benign	Het
Hif3a	A	C	7: 16,776,564 (GRCm39)	S459A	probably benign	Het
Hoxc10	A	T	15: 102,875,635 (GRCm39)	S115C	probably damaging	Het
Hycc2	A	T	1: 58,578,766 (GRCm39)	D261E	probably benign	Het
Ifnab	T	C	4: 88,609,292 (GRCm39)	D58G	possibly damaging	Het
Itfg1	T	C	8: 86,537,243 (GRCm39)	T195A	probably benign	Het
Itpr3	T	A	17: 27,324,459 (GRCm39)		probably null	Het
Iws1	A	G	18: 32,213,334 (GRCm39)	D254G	probably benign	Het
Kl	C	A	5: 150,912,406 (GRCm39)	D718E	probably benign	Het
Lrit2	A	G	14: 36,790,784 (GRCm39)	I154M	probably benign	Het
Lrp2	T	C	2: 69,353,526 (GRCm39)	D578G	probably damaging	Het
Lss	T	G	10: 76,372,123 (GRCm39)	Y159*	probably null	Het
Mab21l1	C	A	3: 55,691,254 (GRCm39)	Y280*	probably null	Het
Maf	A	T	8: 116,419,909 (GRCm39)	S378T	probably benign	Het
Mast2	C	T	4: 116,287,716 (GRCm39)	V59I	probably benign	Het
Nisch	C	T	14: 30,902,895 (GRCm39)		probably benign	Het
Nova2	A	T	7: 18,691,479 (GRCm39)	N139Y	probably damaging	Het
Nup210	C	A	6: 91,013,358 (GRCm39)	D434Y	probably damaging	Het
Nvl	C	T	1: 180,936,724 (GRCm39)		probably null	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or51g2	A	G	7: 102,623,086 (GRCm39)	Y38H	probably damaging	Het
Or56b1	A	G	7: 104,285,696 (GRCm39)	T272A	probably benign	Het
Or8k18	A	T	2: 86,085,585 (GRCm39)	Y151N	probably damaging	Het
Or8k3b	A	G	2: 86,520,677 (GRCm39)	V214A	possibly damaging	Het
Pbx3	T	C	2: 34,094,871 (GRCm39)	Y255C	probably damaging	Het
Pcyt1a	G	A	16: 32,270,611 (GRCm39)	E27K	possibly damaging	Het
Pex6	A	T	17: 47,024,990 (GRCm39)	T348S	probably benign	Het
Phf21b	A	G	15: 84,681,597 (GRCm39)	I251T	probably damaging	Het
Pkd2l2	T	C	18: 34,563,755 (GRCm39)	I490T	probably damaging	Het
Pla2g12a	T	A	3: 129,672,534 (GRCm39)	L56Q	probably damaging	Het
Plk4	A	G	3: 40,760,971 (GRCm39)	T434A	probably benign	Het
Ptpn13	A	G	5: 103,711,998 (GRCm39)	N1632S	probably benign	Het
Rfpl4	C	T	7: 5,113,711 (GRCm39)	V151M	probably damaging	Het
Rpain	G	C	11: 70,865,741 (GRCm39)	E169Q	probably damaging	Het
Samd8	T	A	14: 21,825,227 (GRCm39)	V124D	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Slc12a1	C	T	2: 125,032,215 (GRCm39)	T622I	probably damaging	Het
Slc17a3	T	A	13: 24,029,428 (GRCm39)	V67D	probably damaging	Het
Slc41a3	G	T	6: 90,621,198 (GRCm39)	V387L	probably damaging	Het
Slitrk1	T	A	14: 109,150,709 (GRCm39)	M1L	probably benign	Het
Stat4	T	C	1: 52,050,952 (GRCm39)	W4R	probably damaging	Het
Tas2r126	A	G	6: 42,411,502 (GRCm39)	T12A	probably benign	Het
Tbc1d24	A	G	17: 24,404,953 (GRCm39)	C64R	probably damaging	Het
Tcaf2	T	C	6: 42,606,440 (GRCm39)	S505G	probably benign	Het
Tiam2	T	C	17: 3,566,978 (GRCm39)	V1506A	probably benign	Het
Tmem9b	A	C	7: 109,336,156 (GRCm39)	S163A	probably benign	Het
Tmtc2	G	A	10: 105,139,519 (GRCm39)	S669L	probably damaging	Het
Tnpo3	A	T	6: 29,560,220 (GRCm39)	I641K	possibly damaging	Het
Ttn	C	T	2: 76,565,711 (GRCm39)	A28214T	probably damaging	Het
Utp11	G	A	4: 124,577,032 (GRCm39)	A113V	probably benign	Het
Utp20	G	A	10: 88,588,868 (GRCm39)	R2434C	probably damaging	Het
Vmn1r60	A	T	7: 5,547,902 (GRCm39)	I66N	probably benign	Het
Zeb2	T	C	2: 44,887,206 (GRCm39)	E572G	probably damaging	Het

Other mutations in Hnrnpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Hnrnpl	APN	7	28,512,798 (GRCm39)	missense	probably damaging	1.00
IGL00783:Hnrnpl	APN	7	28,520,067 (GRCm39)	missense	probably benign	0.02
IGL00784:Hnrnpl	APN	7	28,520,067 (GRCm39)	missense	probably benign	0.02
IGL03248:Hnrnpl	APN	7	28,513,505 (GRCm39)	missense	probably benign	0.00
R0143:Hnrnpl	UTSW	7	28,513,617 (GRCm39)	splice site	probably benign
R1567:Hnrnpl	UTSW	7	28,519,608 (GRCm39)	missense	possibly damaging	0.73
R3786:Hnrnpl	UTSW	7	28,510,436 (GRCm39)	unclassified	probably benign
R4837:Hnrnpl	UTSW	7	28,516,762 (GRCm39)	missense	probably benign	0.00
R5412:Hnrnpl	UTSW	7	28,510,529 (GRCm39)	unclassified	probably benign
R6617:Hnrnpl	UTSW	7	28,518,009 (GRCm39)	intron	probably benign
R7238:Hnrnpl	UTSW	7	28,513,400 (GRCm39)	missense
R8283:Hnrnpl	UTSW	7	28,513,697 (GRCm39)	missense
R8336:Hnrnpl	UTSW	7	28,513,462 (GRCm39)	missense	possibly damaging	0.87

Predicted Primers

PCR Primer
(F):5'- TGATTAGCACTGTGATCTGCTCAGC -3'
(R):5'- CAATTCTCTGGACAGGGCCACAAG -3'

Sequencing Primer
(F):5'- CAGCCTGGCAGTCTGTTC -3'
(R):5'- GTTACAGATGGTGTAAAGAACATCC -3'

Posted On

2014-04-13