Mutagenetix > Incidental Mutation

Incidental Mutation 'R6502:Hnrnpd'

519781

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpd

Ensembl Gene

ENSMUSG00000000568

Gene Name

heterogeneous nuclear ribonucleoprotein D

Synonyms

Hnrpd, Auf1

MMRRC Submission

044634-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

R6502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100103794-100126797 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100114025 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 3 (E3D)

Ref Sequence

ENSEMBL: ENSMUSP00000127833 (fasta)

Gene Model

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

AlphaFold

Q60668

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019128
AA Change: E159D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019128
Gene: ENSMUSG00000000568
AA Change: E159D

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: E140D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000072533
Gene: ENSMUSG00000000568
AA Change: E140D

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

possibly damaging
Transcript: ENSMUST00000112939
AA Change: E140D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108561
Gene: ENSMUSG00000000568
AA Change: E140D

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

probably benign
Transcript: ENSMUST00000164833

SMART Domains

Protein: ENSMUSP00000131785
Gene: ENSMUSG00000000568

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

unknown
Transcript: ENSMUST00000168396
AA Change: N84I

SMART Domains

Protein: ENSMUSP00000131859
Gene: ENSMUSG00000000568
AA Change: N84I

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

possibly damaging
Transcript: ENSMUST00000172361
AA Change: E159D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000132735
Gene: ENSMUSG00000000568
AA Change: E159D

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

probably damaging
Transcript: ENSMUST00000171640
AA Change: E3D

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

SMART Domains

Protein: ENSMUSP00000127833
Gene: ENSMUSG00000000568
AA Change: E3D

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

probably benign
Transcript: ENSMUST00000171786
AA Change: E61D

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000125984
Gene: ENSMUSG00000000568
AA Change: E61D

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

Predicted Effect

unknown
Transcript: ENSMUST00000171106
AA Change: E68D

SMART Domains

Protein: ENSMUSP00000131262
Gene: ENSMUSG00000000568
AA Change: E68D

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.7%

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 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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	A	T	6: 124,333,908 (GRCm39)	I24K	probably benign	Het
Adamts9	A	T	6: 92,849,316 (GRCm39)	C467S	probably damaging	Het
Adcy7	G	A	8: 89,052,107 (GRCm39)	R925Q	probably damaging	Het
Akap6	G	A	12: 53,186,998 (GRCm39)	G1471S	probably damaging	Het
Ap2b1	T	C	11: 83,233,505 (GRCm39)	V506A	probably damaging	Het
Apob	A	G	12: 8,051,814 (GRCm39)	I1113M	probably damaging	Het
Arsg	A	T	11: 109,408,162 (GRCm39)	N105Y	probably damaging	Het
Blm	T	A	7: 80,131,223 (GRCm39)	Y872F	probably damaging	Het
Btaf1	A	T	19: 36,961,017 (GRCm39)	N797Y	probably benign	Het
Camsap1	T	C	2: 25,846,320 (GRCm39)	E201G	probably damaging	Het
Ccdc122	T	A	14: 77,279,509 (GRCm39)		probably null	Homo
Ccdc141	A	G	2: 77,000,745 (GRCm39)	V29A	probably damaging	Het
Cd244a	T	A	1: 171,405,447 (GRCm39)	D277E	probably benign	Het
Cfap157	T	C	2: 32,670,690 (GRCm39)	Y186C	probably damaging	Het
Ciita	C	T	16: 10,329,774 (GRCm39)	A686V	probably damaging	Het
Clptm1l	T	C	13: 73,765,884 (GRCm39)		probably null	Het
Col16a1	C	T	4: 129,949,787 (GRCm39)	P50L	probably damaging	Het
Crisp3	A	T	17: 40,546,804 (GRCm39)	V38D	probably damaging	Het
Cyfip2	T	C	11: 46,112,173 (GRCm39)	E1010G	probably damaging	Het
Dvl3	G	A	16: 20,346,133 (GRCm39)	E488K	probably damaging	Het
Eed	C	A	7: 89,626,237 (GRCm39)	E45D	probably benign	Het
Eln	A	G	5: 134,754,628 (GRCm39)		probably benign	Het
Fah	T	A	7: 84,244,043 (GRCm39)	I239F	probably damaging	Het
Fbxw5	T	A	2: 25,392,448 (GRCm39)	Y77N	possibly damaging	Het
Garnl3	T	C	2: 32,896,833 (GRCm39)	E602G	possibly damaging	Het
Gkn3	A	T	6: 87,365,786 (GRCm39)	M11K	probably benign	Het
Glt1d1	A	G	5: 127,784,045 (GRCm39)	Y333C	probably damaging	Het
Gm10762	A	T	2: 128,809,090 (GRCm39)	Y86*	probably null	Het
Gm14496	A	G	2: 181,642,386 (GRCm39)	M686V	probably benign	Het
Gse1	T	A	8: 121,280,428 (GRCm39)		probably null	Het
Herc4	C	A	10: 63,153,197 (GRCm39)	T1035K	probably benign	Het
Hmcn2	T	A	2: 31,272,490 (GRCm39)	N1323K	probably damaging	Het
Htr7	T	A	19: 35,947,010 (GRCm39)	I335F	probably damaging	Het
Ift70b	T	A	2: 75,767,448 (GRCm39)	N435I	possibly damaging	Het
Itgae	A	T	11: 73,036,418 (GRCm39)	I1119F	probably benign	Het
Lcn11	T	C	2: 25,669,103 (GRCm39)	F137S	probably benign	Het
Lrp3	T	G	7: 34,903,413 (GRCm39)	D311A	possibly damaging	Het
Lrrc1	G	T	9: 77,349,473 (GRCm39)	D364E	probably damaging	Het
Lrrc37a	T	A	11: 103,383,005 (GRCm39)	E2456V	unknown	Het
Lrriq1	T	C	10: 103,063,045 (GRCm39)	Y87C	probably damaging	Het
Mcc	A	T	18: 44,601,457 (GRCm39)	L449*	probably null	Het
Mcc	A	T	18: 44,601,458 (GRCm39)	L624M	probably damaging	Het
Mcm9	T	C	10: 53,488,935 (GRCm39)	T496A	probably damaging	Het
Myef2	T	A	2: 124,958,602 (GRCm39)	D109V	probably damaging	Het
Myom3	C	T	4: 135,489,824 (GRCm39)		probably benign	Het
Nanos1	G	T	19: 60,744,977 (GRCm39)	G92W	possibly damaging	Het
Ncor1	T	A	11: 62,272,240 (GRCm39)	K84*	probably null	Het
Neb	T	A	2: 52,181,094 (GRCm39)	D1171V	probably benign	Het
Notch3	A	G	17: 32,377,191 (GRCm39)	W267R	probably damaging	Het
Or5d39	A	T	2: 87,980,360 (GRCm39)	M1K	probably null	Het
Or8d1	A	C	9: 38,766,933 (GRCm39)	T192P	probably damaging	Het
Per2	A	G	1: 91,355,485 (GRCm39)	S758P	probably benign	Het
Pi4k2a	A	G	19: 42,079,371 (GRCm39)	Q144R	probably benign	Het
Pirb	A	T	7: 3,720,392 (GRCm39)	V327E	probably benign	Het
Pla2g4a	C	T	1: 149,748,367 (GRCm39)	W272*	probably null	Het
Plekha4	T	A	7: 45,180,000 (GRCm39)	M1K	probably null	Het
Ppt2	A	G	17: 34,844,894 (GRCm39)	C117R	probably damaging	Het
Prph	A	T	15: 98,954,267 (GRCm39)	I222F	probably damaging	Het
Rbm43	T	C	2: 51,815,588 (GRCm39)	D211G	probably damaging	Het
Rims2	A	G	15: 39,398,251 (GRCm39)	D1072G	probably benign	Het
Rnf123	G	T	9: 107,945,531 (GRCm39)	Q380K	possibly damaging	Het
Rnf145	T	C	11: 44,415,932 (GRCm39)	F49S	probably damaging	Het
Sall4	A	G	2: 168,597,628 (GRCm39)	I404T	probably damaging	Het
Slc25a39	G	A	11: 102,295,286 (GRCm39)	P228L	probably damaging	Het
Tbc1d14	T	C	5: 36,677,825 (GRCm39)	T377A	possibly damaging	Het
Tbc1d17	A	G	7: 44,491,049 (GRCm39)	I555T	probably benign	Het
Tmem131l	A	T	3: 83,829,715 (GRCm39)	S980T	probably damaging	Het
Tmem14a	G	T	1: 21,299,662 (GRCm39)	L97F	possibly damaging	Het
Tmem98	T	C	11: 80,703,461 (GRCm39)	V26A	probably benign	Het
Tmppe	G	T	9: 114,234,720 (GRCm39)	G340W	probably damaging	Het
Tsc1	T	C	2: 28,555,613 (GRCm39)	S237P	probably damaging	Het
Ubr4	C	T	4: 139,171,982 (GRCm39)	R2992W	probably damaging	Het
Ugt2a2	A	G	5: 87,608,318 (GRCm39)	V673A	possibly damaging	Het
Vmn2r19	T	C	6: 123,293,067 (GRCm39)	Y370H	possibly damaging	Het
Vmn2r20	A	G	6: 123,373,342 (GRCm39)	F500S	possibly damaging	Het
Zc3h7b	A	G	15: 81,653,252 (GRCm39)	Y47C	probably benign	Het
Zdhhc13	A	G	7: 48,465,308 (GRCm39)	E406G	possibly damaging	Het
Zfp418	T	C	7: 7,185,599 (GRCm39)	S521P	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACCCAGAAGGCCAAATCTACTT -3'
(R):5'- ACTTGGGCACTAGTTTGTGT -3'

Sequencing Primer
(F):5'- GGCCAAATCTACTTAATGTGCC -3'
(R):5'- GCACTAGTTTGTGTTAGTTGATGTC -3'

Posted On

2018-06-06