Mutagenetix > Incidental Mutation

Incidental Mutation 'R8922:Hnrnpdl'

679318

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

068767-MU

Accession Numbers

Essential gene?

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

Stock #

R8922 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

100181436-100187523 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 100184419 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 371 (Y371*)

Ref Sequence

ENSEMBL: ENSMUSP00000121005 (fasta)

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: Y371*

SMART Domains

Protein: ENSMUSP00000084114
Gene: ENSMUSG00000029328
AA Change: Y371*

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: Y371*

SMART Domains

Protein: ENSMUSP00000121005
Gene: ENSMUSG00000029328
AA Change: Y371*

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 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

probably null
Transcript: ENSMUST00000153442
AA Change: Y273*

SMART Domains

Protein: ENSMUSP00000118555
Gene: ENSMUSG00000029328
AA Change: Y273*

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

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (78/78)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	A	G	8: 88,295,177 (GRCm39)	D105G	possibly damaging	Het
Abhd14b	T	C	9: 106,328,835 (GRCm39)		probably null	Het
Acot1	C	T	12: 84,064,085 (GRCm39)	Q398*	probably null	Het
Adam26b	A	T	8: 43,973,216 (GRCm39)	D595E	probably damaging	Het
Aldh1l1	T	A	6: 90,536,256 (GRCm39)	F54I	probably damaging	Het
Arhgap33	C	T	7: 30,223,417 (GRCm39)	E871K	probably damaging	Het
Aspg	A	T	12: 112,089,830 (GRCm39)	D456V	possibly damaging	Het
Cacna1b	A	C	2: 24,622,340 (GRCm39)	S215A	possibly damaging	Het
Car3	A	T	3: 14,931,952 (GRCm39)	T108S		Het
Ccdc91	C	T	6: 147,412,358 (GRCm39)	Q23*	probably null	Het
Cd300lg	A	T	11: 101,945,028 (GRCm39)	I413F	probably damaging	Het
Ces2h	T	A	8: 105,744,756 (GRCm39)	M378K	probably benign	Het
Cfap44	C	T	16: 44,272,030 (GRCm39)	T1261I	probably benign	Het
Cir1	G	A	2: 73,118,053 (GRCm39)	S164L	possibly damaging	Het
Clasp2	A	T	9: 113,725,728 (GRCm39)	K790*	probably null	Het
Cpne8	A	T	15: 90,456,213 (GRCm39)	D183E	probably damaging	Het
Dhrs13	A	G	11: 77,923,425 (GRCm39)	I48V	possibly damaging	Het
Dpp8	G	T	9: 64,981,793 (GRCm39)	V692L	probably benign	Het
Exoc2	A	T	13: 31,055,838 (GRCm39)	I660N	probably benign	Het
Exosc5	T	C	7: 25,363,673 (GRCm39)	V88A	probably benign	Het
Extl3	G	A	14: 65,292,255 (GRCm39)	T856I	probably damaging	Het
Flnc	T	C	6: 29,456,835 (GRCm39)	V2277A	probably damaging	Het
Frmd8	A	G	19: 5,923,295 (GRCm39)	I52T	probably benign	Het
Gm8947	C	T	1: 151,068,655 (GRCm39)	R163C	probably benign	Het
Golga7	A	T	8: 23,740,288 (GRCm39)	C81S	probably damaging	Het
Grik1	A	C	16: 87,693,167 (GRCm39)	S879A	unknown	Het
Helz	A	G	11: 107,539,985 (GRCm39)	T1002A	possibly damaging	Het
Hes1	T	A	16: 29,884,725 (GRCm39)	L62*	probably null	Het
Hmgn2-ps	A	G	8: 73,058,953 (GRCm39)	S25P	probably benign	Het
Ifna11	T	C	4: 88,738,431 (GRCm39)	V79A	probably benign	Het
Itga4	A	G	2: 79,085,938 (GRCm39)		probably benign	Het
Kap	T	C	6: 133,827,054 (GRCm39)	I110V	probably benign	Het
Lmbrd2	A	G	15: 9,172,231 (GRCm39)	K342E	probably damaging	Het
Lrba	A	G	3: 86,263,973 (GRCm39)	D1549G	probably damaging	Het
Luzp1	C	T	4: 136,270,233 (GRCm39)	H819Y	probably damaging	Het
Mmp21	T	A	7: 133,276,000 (GRCm39)		probably benign	Het
Mto1	T	C	9: 78,377,928 (GRCm39)	V590A	probably benign	Het
Myom3	T	C	4: 135,492,222 (GRCm39)	L122P	probably damaging	Het
Nat10	T	C	2: 103,582,938 (GRCm39)	Y161C	probably damaging	Het
Ncor2	A	G	5: 125,163,939 (GRCm39)	V197A	unknown	Het
Opn4	A	C	14: 34,314,955 (GRCm39)	S439R	probably benign	Het
Or12j3	T	A	7: 139,953,389 (GRCm39)	I45F	possibly damaging	Het
Or4c3d	C	A	2: 89,882,695 (GRCm39)		probably benign	Het
Or56a41	C	A	7: 104,740,469 (GRCm39)	V126L	probably benign	Het
Or5b12b	A	G	19: 12,861,458 (GRCm39)	Y71C	probably damaging	Het
Or5p75-ps1	T	A	7: 108,107,957 (GRCm39)	D231E	unknown	Het
Pik3c2a	G	T	7: 116,017,659 (GRCm39)	Q33K	probably damaging	Het
Pm20d1	G	T	1: 131,728,853 (GRCm39)	S93I	possibly damaging	Het
Pou3f1	C	T	4: 124,552,176 (GRCm39)	A226V	possibly damaging	Het
Ppl	T	C	16: 4,923,815 (GRCm39)	E191G	probably benign	Het
Prkag1	T	C	15: 98,712,147 (GRCm39)	T208A	probably benign	Het
Rb1cc1	T	C	1: 6,319,194 (GRCm39)	I871T	probably benign	Het
Rhd	T	C	4: 134,612,627 (GRCm39)	S293P	probably damaging	Het
Rprd2	G	T	3: 95,687,896 (GRCm39)	T252K	probably damaging	Het
Scn5a	C	A	9: 119,363,766 (GRCm39)	R458L	probably benign	Het
Scrib	C	T	15: 75,933,587 (GRCm39)		probably null	Het
Sec24d	G	A	3: 123,144,488 (GRCm39)	G655E	probably damaging	Het
Serpine3	A	G	14: 62,910,503 (GRCm39)	R199G	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,742 (GRCm39)		probably benign	Het
Slc44a1	A	G	4: 53,544,545 (GRCm39)	K419E	probably damaging	Het
Speer4a3	C	T	5: 26,156,594 (GRCm39)	M128I	possibly damaging	Het
Styxl1	T	C	5: 135,776,634 (GRCm39)	E318G	probably benign	Het
Tcstv2a	A	G	13: 120,725,666 (GRCm39)	E110G	probably benign	Het
Tesmin	A	G	19: 3,454,163 (GRCm39)	K346E	probably damaging	Het
Thpo	A	T	16: 20,547,680 (GRCm39)	L6Q	unknown	Het
Tlr2	T	A	3: 83,745,075 (GRCm39)	E336V	probably benign	Het
Tmem167b	A	G	3: 108,467,541 (GRCm39)	L35P	probably benign	Het
Topaz1	A	T	9: 122,625,101 (GRCm39)	E1395D	possibly damaging	Het
Trim29	G	T	9: 43,233,636 (GRCm39)	R434L	possibly damaging	Het
Trim68	T	C	7: 102,327,550 (GRCm39)	I468V	probably benign	Het
Ttn	C	A	2: 76,542,628 (GRCm39)	V33453F	probably benign	Het
Ubac1	A	T	2: 25,896,621 (GRCm39)	V298D	probably damaging	Het
Vmn1r185	C	A	7: 26,310,825 (GRCm39)	V227F	probably damaging	Het
Vmn1r21	T	A	6: 57,820,829 (GRCm39)	H205L	probably damaging	Het
Zbtb16	A	G	9: 48,743,857 (GRCm39)	Y152H	probably benign	Het
Zbtb20	A	T	16: 43,397,968 (GRCm39)	N19I	probably damaging	Het
Zfp438	A	G	18: 5,213,422 (GRCm39)	M512T	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
R5154:Hnrnpdl	UTSW	5	100,184,371 (GRCm39)	nonsense	probably null
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
X0020:Hnrnpdl	UTSW	5	100,184,428 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCCATCTTAACAGTCAGTAATAGC -3'
(R):5'- GACAGGAATGGATCAGCTTGTG -3'

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

Posted On

2021-08-02