Mutagenetix > Incidental Mutation

Incidental Mutation 'R0066:Hnrnpd'

17124

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpd

Ensembl Gene

ENSMUSG00000000568

Gene Name

heterogeneous nuclear ribonucleoprotein D

Synonyms

Hnrpd, Auf1

MMRRC Submission

038357-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

R0066 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100103794-100126797 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100112560 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 222 (E222G)

Ref Sequence

ENSEMBL: ENSMUSP00000072533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019128] [ENSMUST00000072750] [ENSMUST00000112939] [ENSMUST00000164833] [ENSMUST00000168396] [ENSMUST00000170912] [ENSMUST00000172361] [ENSMUST00000171640] [ENSMUST00000171786]

AlphaFold

Q60668

Predicted Effect

probably damaging
Transcript: ENSMUST00000019128
AA Change: E241G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000019128
Gene: ENSMUSG00000000568
AA Change: E241G

Domain	Start	End	E-Value	Type
Pfam:CBFNT	1	79	1.3e-16	PFAM
RRM	98	170	3.85e-25	SMART
RRM	183	255	7.76e-21	SMART
low complexity region	262	268	N/A	INTRINSIC
low complexity region	270	289	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000072750
AA Change: E222G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000072533
Gene: ENSMUSG00000000568
AA Change: E222G

Domain	Start	End	E-Value	Type
low complexity region	7	66	N/A	INTRINSIC
RRM	79	151	3.85e-25	SMART
RRM	164	236	7.76e-21	SMART
low complexity region	243	249	N/A	INTRINSIC
low complexity region	251	270	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112939
AA Change: E222G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108561
Gene: ENSMUSG00000000568
AA Change: E222G

Domain	Start	End	E-Value	Type
low complexity region	7	66	N/A	INTRINSIC
RRM	79	151	3.85e-25	SMART
RRM	164	236	7.76e-21	SMART
low complexity region	243	249	N/A	INTRINSIC
low complexity region	251	266	N/A	INTRINSIC
low complexity region	272	321	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164833
AA Change: E17G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131785
Gene: ENSMUSG00000000568
AA Change: E17G

Domain	Start	End	E-Value	Type
Blast:RRM	1	31	3e-13	BLAST
PDB:1X0F\|A	1	35	1e-17	PDB
SCOP:d1fj7a_	1	40	4e-4	SMART
low complexity region	46	61	N/A	INTRINSIC
low complexity region	67	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168396

SMART Domains

Protein: ENSMUSP00000131859
Gene: ENSMUSG00000000568

Domain	Start	End	E-Value	Type
Pfam:CBFNT	1	79	2.2e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170654

Predicted Effect

probably benign
Transcript: ENSMUST00000170912

Predicted Effect

probably damaging
Transcript: ENSMUST00000172361
AA Change: E241G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132735
Gene: ENSMUSG00000000568
AA Change: E241G

Domain	Start	End	E-Value	Type
Pfam:CBFNT	1	78	9.6e-16	PFAM
RRM	98	170	3.85e-25	SMART
RRM	183	255	7.76e-21	SMART
low complexity region	262	268	N/A	INTRINSIC
low complexity region	270	285	N/A	INTRINSIC
low complexity region	291	340	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171640
AA Change: E85G

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127833
Gene: ENSMUSG00000000568
AA Change: E85G

Domain	Start	End	E-Value	Type
RRM	27	99	7.76e-21	SMART
low complexity region	106	112	N/A	INTRINSIC
low complexity region	114	133	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000171106
AA Change: E150G

SMART Domains

Protein: ENSMUSP00000131262
Gene: ENSMUSG00000000568
AA Change: E150G

Domain	Start	End	E-Value	Type
RRM	8	80	3.85e-25	SMART
RRM	93	165	7.76e-21	SMART
low complexity region	172	178	N/A	INTRINSIC
low complexity region	180	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000171786

SMART Domains

Protein: ENSMUSP00000125984
Gene: ENSMUSG00000000568

Domain	Start	End	E-Value	Type
RRM	1	72	8.44e-22	SMART
internal_repeat_1	86	107	2.75e-5	PROSPERO

Meta Mutation Damage Score

0.4307

Coding Region Coverage

1x: 89.0%
3x: 85.6%
10x: 75.4%
20x: 57.8%

Validation Efficiency

94% (112/119)

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 nucleic acid 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 repeats of quasi-RRM domains that bind to RNAs. It localizes to both the nucleus and the cytoplasm. This protein is implicated in the regulation of mRNA stability. Alternative splicing of this gene results in four transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in fetal growth retardation and decreased body weight. Mice show increased susceptibility to bacterial infection and endotoxin shock. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810064F22Rik	A	G	9: 22,119,177 (GRCm39)		noncoding transcript	Het
Aco2	T	C	15: 81,787,666 (GRCm39)		probably benign	Het
Arsa	T	A	15: 89,358,539 (GRCm39)	M288L	possibly damaging	Het
Atg2b	A	T	12: 105,614,708 (GRCm39)	D1074E	probably benign	Het
Baiap2l1	A	T	5: 144,221,372 (GRCm39)	I174N	probably damaging	Het
Bptf	A	G	11: 106,952,962 (GRCm39)	V199A	possibly damaging	Het
Btn2a2	T	A	13: 23,662,655 (GRCm39)	I432L	probably benign	Het
Ccdc150	A	G	1: 54,395,850 (GRCm39)	I778V	probably benign	Het
Cd200r2	G	A	16: 44,730,037 (GRCm39)	V194I	possibly damaging	Het
Cep350	A	C	1: 155,786,964 (GRCm39)	L1421R	probably damaging	Het
Col6a6	A	T	9: 105,579,412 (GRCm39)	C1938S	probably damaging	Het
Cspg4	A	T	9: 56,795,418 (GRCm39)	D1051V	probably damaging	Het
Cstf1	T	A	2: 172,214,976 (GRCm39)	N32K	probably benign	Het
Ctrb1	G	A	8: 112,413,269 (GRCm39)	R248*	probably null	Het
Cyp2d11	T	A	15: 82,275,958 (GRCm39)	M208L	probably benign	Het
Dbt	A	G	3: 116,337,478 (GRCm39)	Q334R	probably benign	Het
Dcaf12	A	G	4: 41,298,338 (GRCm39)	V270A	probably damaging	Het
Dis3l	T	A	9: 64,226,447 (GRCm39)	N361I	probably benign	Het
Dnm3	A	G	1: 162,234,930 (GRCm39)	V70A	probably damaging	Het
Dpy19l2	G	A	9: 24,557,679 (GRCm39)		probably benign	Het
Dst	C	A	1: 34,228,634 (GRCm39)	H2254N	possibly damaging	Het
Eif2b1	T	G	5: 124,711,858 (GRCm39)		probably null	Het
Epm2aip1	A	G	9: 111,101,531 (GRCm39)	N168S	probably benign	Het
Fchsd2	A	G	7: 100,927,631 (GRCm39)	Y691C	possibly damaging	Het
Fndc8	A	T	11: 82,788,398 (GRCm39)	D76V	probably benign	Het
Frmd4a	T	C	2: 4,477,963 (GRCm39)	L48P	probably damaging	Het
Gimap6	T	A	6: 48,679,404 (GRCm39)	I211F	probably damaging	Het
Gm15130	A	G	2: 110,969,284 (GRCm39)		probably benign	Het
Gm19618	A	T	6: 87,691,227 (GRCm39)			Het
Gpatch1	G	A	7: 34,986,652 (GRCm39)	S768L	probably damaging	Het
Grb14	T	G	2: 64,768,836 (GRCm39)		probably null	Het
Ighv1-4	A	G	12: 114,450,989 (GRCm39)	S40P	possibly damaging	Het
Kcnh4	T	C	11: 100,648,626 (GRCm39)	H26R	probably benign	Het
Kctd2	T	G	11: 115,320,343 (GRCm39)		probably benign	Het
Macf1	G	A	4: 123,325,943 (GRCm39)	Q3066*	probably null	Het
Mfn2	G	A	4: 147,969,902 (GRCm39)		probably benign	Het
Mmab	T	C	5: 114,574,526 (GRCm39)		probably benign	Het
Mrc1	T	C	2: 14,266,011 (GRCm39)	S310P	probably benign	Het
Mrps21	T	C	3: 95,770,197 (GRCm39)	Y44C	probably null	Het
Myh10	T	A	11: 68,590,317 (GRCm39)	F121Y	probably damaging	Het
Myo1f	A	G	17: 33,820,677 (GRCm39)	D840G	probably damaging	Het
Nol6	G	T	4: 41,119,572 (GRCm39)		probably benign	Het
Ntsr2	T	C	12: 16,704,120 (GRCm39)	I207T	probably benign	Het
Nwd1	T	A	8: 73,438,484 (GRCm39)	S1552T	probably benign	Het
Or11j4	T	A	14: 50,630,659 (GRCm39)	F149I	probably benign	Het
Pkd1l3	G	T	8: 110,347,103 (GRCm39)	G159C	unknown	Het
Plcb4	T	C	2: 135,803,689 (GRCm39)	S521P	probably benign	Het
Plcl1	A	T	1: 55,752,634 (GRCm39)	I993F	probably damaging	Het
Plekha7	T	C	7: 115,756,743 (GRCm39)	S640G	probably damaging	Het
Ptprn2	A	C	12: 117,240,222 (GRCm39)	N993T	probably benign	Het
Reck	A	G	4: 43,930,936 (GRCm39)	N646D	probably damaging	Het
Rfx2	A	T	17: 57,093,736 (GRCm39)		probably benign	Het
Ripk2	G	A	4: 16,123,868 (GRCm39)	Q436*	probably null	Het
Ryr1	C	T	7: 28,704,992 (GRCm39)		probably benign	Het
Sema6b	A	G	17: 56,435,271 (GRCm39)	V324A	possibly damaging	Het
Sik2	C	A	9: 50,909,833 (GRCm39)	M73I	probably benign	Het
Slc39a6	T	C	18: 24,732,326 (GRCm39)	K321E	probably damaging	Het
Slc7a4	C	A	16: 17,391,875 (GRCm39)	V520F	probably benign	Het
Sptan1	C	A	2: 29,893,679 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,879,027 (GRCm39)		probably benign	Het
Tbc1d17	C	T	7: 44,493,495 (GRCm39)		probably benign	Het
Tbcd	T	A	11: 121,394,590 (GRCm39)	L49*	probably null	Het
Tulp4	A	T	17: 6,252,008 (GRCm39)	N60I	probably damaging	Het
Ubqlnl	A	T	7: 103,798,145 (GRCm39)	W451R	probably damaging	Het
Usp53	G	T	3: 122,746,956 (GRCm39)	C363*	probably null	Het
Utp4	A	G	8: 107,649,530 (GRCm39)	T660A	possibly damaging	Het
Vmn1r194	A	T	13: 22,428,641 (GRCm39)	Y86F	probably benign	Het
Vmn1r195	A	T	13: 22,463,409 (GRCm39)	H293L	possibly damaging	Het
Vmn1r231	T	C	17: 21,109,998 (GRCm39)	R306G	probably benign	Het
Vmn2r77	T	C	7: 86,449,964 (GRCm39)	V70A	probably benign	Het
Vps8	A	G	16: 21,296,273 (GRCm39)	E515G	possibly damaging	Het
Wdr18	C	A	10: 79,796,937 (GRCm39)	Y104*	probably null	Het
Xab2	A	T	8: 3,663,880 (GRCm39)	N346K	probably damaging	Het
Zdhhc12	C	T	2: 29,982,547 (GRCm39)	R50H	probably damaging	Het
Zdhhc8	A	G	16: 18,043,064 (GRCm39)	S379P	probably benign	Het

Other mutations in Hnrnpd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0066:Hnrnpd	UTSW	5	100,112,560 (GRCm39)	missense	probably damaging	1.00
R1022:Hnrnpd	UTSW	5	100,114,016 (GRCm39)	makesense	probably null
R1024:Hnrnpd	UTSW	5	100,114,016 (GRCm39)	makesense	probably null
R6019:Hnrnpd	UTSW	5	100,115,095 (GRCm39)	missense	probably benign	0.00
R6502:Hnrnpd	UTSW	5	100,114,025 (GRCm39)	missense	probably damaging	1.00
R6785:Hnrnpd	UTSW	5	100,126,283 (GRCm39)	missense	probably benign	0.12
R6937:Hnrnpd	UTSW	5	100,111,629 (GRCm39)	missense	probably benign	0.08
R7080:Hnrnpd	UTSW	5	100,124,392 (GRCm39)	critical splice donor site	probably null
R7577:Hnrnpd	UTSW	5	100,115,113 (GRCm39)	missense	probably damaging	1.00
R8705:Hnrnpd	UTSW	5	100,111,588 (GRCm39)	critical splice donor site	probably benign

Posted On

2013-01-20