Mutagenetix > Incidental Mutation

Incidental Mutation 'R5154:Hnrnpdl'

396570

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpdl

Ensembl Gene

ENSMUSG00000029328

Gene Name

heterogeneous nuclear ribonucleoprotein D-like

Synonyms

D5Wsu145e, hnRNP-DL, D5Ertd650e, Hnrpdl, JKTBP

MMRRC Submission

042736-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R5154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100181436-100187523 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 100184371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 289 (Y289*)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031268] [ENSMUST00000086900] [ENSMUST00000128187] [ENSMUST00000149384] [ENSMUST00000169390]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031268

SMART Domains

Protein: ENSMUSP00000031268
Gene: ENSMUSG00000029326

Domain	Start	End	E-Value	Type
Pfam:HAD_2	13	227	2.6e-25	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000086900
AA Change: Y387*

SMART Domains

Protein: ENSMUSP00000084114
Gene: ENSMUSG00000029328
AA Change: Y387*

Domain	Start	End	E-Value	Type
low complexity region	31	57	N/A	INTRINSIC
low complexity region	70	88	N/A	INTRINSIC
low complexity region	99	109	N/A	INTRINSIC
RRM	149	221	1.74e-23	SMART
RRM	234	306	3.56e-20	SMART
low complexity region	315	344	N/A	INTRINSIC
low complexity region	347	362	N/A	INTRINSIC
low complexity region	370	393	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000128187
AA Change: Y387*

SMART Domains

Protein: ENSMUSP00000121005
Gene: ENSMUSG00000029328
AA Change: Y387*

Domain	Start	End	E-Value	Type
low complexity region	31	57	N/A	INTRINSIC
low complexity region	70	88	N/A	INTRINSIC
low complexity region	99	109	N/A	INTRINSIC
RRM	149	221	1.74e-23	SMART
RRM	234	306	3.56e-20	SMART
low complexity region	315	344	N/A	INTRINSIC
low complexity region	347	362	N/A	INTRINSIC
low complexity region	370	393	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141337

Predicted Effect

probably benign
Transcript: ENSMUST00000149384

SMART Domains

Protein: ENSMUSP00000117589
Gene: ENSMUSG00000029328

Domain	Start	End	E-Value	Type
low complexity region	10	20	N/A	INTRINSIC
Blast:RRM	28	59	1e-13	BLAST
low complexity region	63	83	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151323

Predicted Effect

probably null
Transcript: ENSMUST00000153442
AA Change: Y289*

SMART Domains

Protein: ENSMUSP00000118555
Gene: ENSMUSG00000029328
AA Change: Y289*

Domain	Start	End	E-Value	Type
RRM	52	124	1.74e-23	SMART
RRM	137	209	3.56e-20	SMART
low complexity region	218	247	N/A	INTRINSIC
low complexity region	250	265	N/A	INTRINSIC
low complexity region	273	296	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199518

Predicted Effect

probably benign
Transcript: ENSMUST00000169390

SMART Domains

Protein: ENSMUSP00000129704
Gene: ENSMUSG00000029326

Domain	Start	End	E-Value	Type
Pfam:HAD_2	13	227	2.6e-23	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,938 (GRCm39)	H48P	probably damaging	Het
Angptl7	C	T	4: 148,581,882 (GRCm39)	R168H	probably damaging	Het
Ankrd11	A	C	8: 123,619,878 (GRCm39)	F1325V	probably damaging	Het
Ankrd13c	A	G	3: 157,694,297 (GRCm39)	D266G	possibly damaging	Het
Apold1	A	T	6: 134,960,636 (GRCm39)	H30L	possibly damaging	Het
Arel1	A	G	12: 84,978,547 (GRCm39)	F362L	probably benign	Het
Arhgef4	T	A	1: 34,771,455 (GRCm39)	M1254K	probably benign	Het
Arid2	T	A	15: 96,299,866 (GRCm39)	V1793E	probably damaging	Het
Bcl7a	T	C	5: 123,507,422 (GRCm39)	S156P	probably damaging	Het
Cbr3	A	G	16: 93,482,027 (GRCm39)	I128V	probably benign	Het
Cct6b	G	A	11: 82,630,521 (GRCm39)	P299L	probably damaging	Het
Cd180	A	T	13: 102,842,282 (GRCm39)	N443Y	probably damaging	Het
Cd80	A	G	16: 38,294,342 (GRCm39)	K75R	probably benign	Het
Cdk1	A	T	10: 69,176,298 (GRCm39)		probably benign	Het
Cep192	T	A	18: 67,983,755 (GRCm39)	F1565I	probably damaging	Het
Chtf18	T	C	17: 25,942,694 (GRCm39)	T412A	probably damaging	Het
Cit	T	C	5: 116,126,464 (GRCm39)	L1590P	probably damaging	Het
Clcn2	T	A	16: 20,522,053 (GRCm39)	R845S	probably benign	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Cnnm2	A	T	19: 46,751,571 (GRCm39)	R454W	probably benign	Het
Cpne8	T	G	15: 90,384,121 (GRCm39)	I480L	probably benign	Het
Cr2	A	G	1: 194,841,754 (GRCm39)	W400R	probably damaging	Het
Cul5	A	G	9: 53,537,167 (GRCm39)	L528P	probably damaging	Het
Dlgap5	C	T	14: 47,651,177 (GRCm39)	V119M	probably damaging	Het
Dnah12	T	C	14: 26,571,320 (GRCm39)	S190P	probably benign	Het
Dnah3	T	A	7: 119,551,642 (GRCm39)	K2881N	probably damaging	Het
Dnmt3a	A	T	12: 3,946,008 (GRCm39)	I288F	probably damaging	Het
Dse	T	A	10: 34,029,657 (GRCm39)	T478S	possibly damaging	Het
Edn1	C	T	13: 42,458,499 (GRCm39)	T104I	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eprs1	A	G	1: 185,145,662 (GRCm39)	H1157R	probably damaging	Het
Fam168b	G	A	1: 34,857,180 (GRCm39)	T179I	possibly damaging	Het
Fzd5	A	G	1: 64,775,131 (GRCm39)	V210A	probably benign	Het
Gm9742	T	C	13: 8,085,081 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Gpr141	C	T	13: 19,936,412 (GRCm39)	R121K	probably benign	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Grk3	A	T	5: 113,089,583 (GRCm39)	I281N	probably damaging	Het
Hsf2	T	G	10: 57,380,808 (GRCm39)	V214G	probably benign	Het
Igf2bp1	G	A	11: 95,854,373 (GRCm39)	Q563*	probably null	Het
Il31ra	T	A	13: 112,660,531 (GRCm39)	D605V	possibly damaging	Het
Insm2	G	A	12: 55,646,982 (GRCm39)	C242Y	probably damaging	Het
Ints3	C	T	3: 90,322,868 (GRCm39)	V121I	probably benign	Het
Kcnt2	A	T	1: 140,278,994 (GRCm39)	L48F	possibly damaging	Het
Kit	G	A	5: 75,801,200 (GRCm39)	V529M	probably damaging	Het
Mark2	G	A	19: 7,260,439 (GRCm39)	P13S	probably damaging	Het
Mthfsd	A	G	8: 121,825,479 (GRCm39)	V364A	probably damaging	Het
Mtmr11	C	G	3: 96,071,636 (GRCm39)	S185R	probably benign	Het
Myot	A	G	18: 44,487,281 (GRCm39)	I373V	probably benign	Het
N4bp3	A	T	11: 51,536,139 (GRCm39)	V231D	probably benign	Het
Or5t17	T	C	2: 86,832,382 (GRCm39)	V23A	probably benign	Het
Or8k39	A	T	2: 86,563,121 (GRCm39)	Y278*	probably null	Het
Pdcd6ip	A	G	9: 113,520,610 (GRCm39)	F125L	probably damaging	Het
Prpf39	A	T	12: 65,095,051 (GRCm39)	Q124L	probably benign	Het
Reln	A	T	5: 22,193,763 (GRCm39)	N1398K	probably damaging	Het
Rhod	A	T	19: 4,482,122 (GRCm39)	D97E	probably damaging	Het
Rxra	T	C	2: 27,647,880 (GRCm39)		probably null	Het
Slc1a3	T	C	15: 8,672,433 (GRCm39)	I349V	probably benign	Het
Slc37a2	A	T	9: 37,142,939 (GRCm39)	*502R	probably null	Het
Slc9b1	T	C	3: 135,078,940 (GRCm39)	I199T	probably damaging	Het
Spart	C	T	3: 55,024,750 (GRCm39)	P115L	probably damaging	Het
Tnpo1	A	T	13: 99,006,813 (GRCm39)	C205S	possibly damaging	Het
Tubb1	T	A	2: 174,298,657 (GRCm39)	I113N	probably benign	Het
Tyrp1	G	A	4: 80,768,954 (GRCm39)	V483I	probably benign	Het
Vwde	T	C	6: 13,215,757 (GRCm39)	S100G	probably benign	Het
Zfhx3	A	T	8: 109,527,207 (GRCm39)	I1035F	probably damaging	Het
Zfp618	G	T	4: 63,051,446 (GRCm39)	K742N	probably damaging	Het
Zfp873	T	C	10: 81,896,025 (GRCm39)	V252A	possibly damaging	Het

Other mutations in Hnrnpdl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02751:Hnrnpdl	APN	5	100,185,833 (GRCm39)	missense	probably damaging	1.00
IGL02981:Hnrnpdl	APN	5	100,184,958 (GRCm39)	missense	possibly damaging	0.75
IGL03087:Hnrnpdl	APN	5	100,185,460 (GRCm39)	missense	probably damaging	1.00
R4756:Hnrnpdl	UTSW	5	100,185,783 (GRCm39)	nonsense	probably null
R4812:Hnrnpdl	UTSW	5	100,184,331 (GRCm39)	unclassified	probably benign
R6082:Hnrnpdl	UTSW	5	100,184,340 (GRCm39)	missense	probably null	1.00
R6086:Hnrnpdl	UTSW	5	100,184,340 (GRCm39)	missense	probably null	1.00
R6143:Hnrnpdl	UTSW	5	100,184,410 (GRCm39)	nonsense	probably null
R6305:Hnrnpdl	UTSW	5	100,186,517 (GRCm39)	unclassified	probably benign
R6807:Hnrnpdl	UTSW	5	100,186,995 (GRCm39)	missense	probably null
R7309:Hnrnpdl	UTSW	5	100,185,482 (GRCm39)	nonsense	probably null
R7449:Hnrnpdl	UTSW	5	100,185,014 (GRCm39)	missense	probably damaging	0.99
R8098:Hnrnpdl	UTSW	5	100,185,779 (GRCm39)	missense	probably benign	0.05
R8922:Hnrnpdl	UTSW	5	100,184,419 (GRCm39)	nonsense	probably null
X0020:Hnrnpdl	UTSW	5	100,184,428 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCCATCTTAACAGTCAGTAATAGCC -3'
(R):5'- ACAGGAATGGATCAGCTTGTGG -3'

Sequencing Primer
(F):5'- CTTAACAGTCAGTAATAGCCAATAGC -3'
(R):5'- GGACAGTCCCAAGTTGTTTCCTAAC -3'

Posted On

2016-06-21