Mutagenetix > Incidental Mutation

Incidental Mutation 'R6785:Hnrnpd'

531612

Institutional Source

Beutler Lab

Gene Symbol

Hnrnpd

Ensembl Gene

ENSMUSG00000000568

Gene Name

heterogeneous nuclear ribonucleoprotein D

Synonyms

Hnrpd, Auf1

MMRRC Submission

044899-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.736) question?

Stock #

R6785 (G1)

Quality Score

200.009

Status

Not validated

Chromosome

Chromosomal Location

100103794-100126797 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100126283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 67 (K67N)

Ref Sequence

ENSEMBL: ENSMUSP00000132735 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019128] [ENSMUST00000046721] [ENSMUST00000072750] [ENSMUST00000112939] [ENSMUST00000168396] [ENSMUST00000170912] [ENSMUST00000172361] [ENSMUST00000171786]

AlphaFold

Q60668

Predicted Effect

probably benign
Transcript: ENSMUST00000019128
AA Change: K67N

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000019128
Gene: ENSMUSG00000000568
AA Change: K67N

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 benign
Transcript: ENSMUST00000046721

SMART Domains

Protein: ENSMUSP00000043949
Gene: ENSMUSG00000035364

Domain	Start	End	E-Value	Type
low complexity region	40	58	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000072750
AA Change: K67N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000072533
Gene: ENSMUSG00000000568
AA Change: K67N

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 benign
Transcript: ENSMUST00000112939
AA Change: K67N

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000108561
Gene: ENSMUSG00000000568
AA Change: K67N

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

unknown
Transcript: ENSMUST00000168396
AA Change: K67N

SMART Domains

Protein: ENSMUSP00000131859
Gene: ENSMUSG00000000568
AA Change: K67N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000170912

Predicted Effect

probably benign
Transcript: ENSMUST00000171106

SMART Domains

Protein: ENSMUSP00000131262
Gene: ENSMUSG00000000568

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: ENSMUST00000172361
AA Change: K67N

PolyPhen 2 Score 0.124 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000132735
Gene: ENSMUSG00000000568
AA Change: K67N

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 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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (59/60)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	A	G	2: 22,843,479 (GRCm39)	V316A	probably benign	Het
Acad12	T	C	5: 121,747,908 (GRCm39)	Y170C	probably damaging	Het
Acss2	T	C	2: 155,402,605 (GRCm39)	V587A	probably damaging	Het
Adamtsl3	A	G	7: 82,171,212 (GRCm39)	I422V	probably damaging	Het
Aldh18a1	A	G	19: 40,556,788 (GRCm39)	L375P	probably damaging	Het
B020011L13Rik	A	G	1: 117,728,799 (GRCm39)	D102G	possibly damaging	Het
Cfap74	T	A	4: 155,538,481 (GRCm39)		probably benign	Het
Coa4	G	A	7: 100,188,460 (GRCm39)	V58M	probably damaging	Het
Crybg1	T	C	10: 43,875,167 (GRCm39)	N647S	probably benign	Het
Dync1h1	G	A	12: 110,596,113 (GRCm39)	G1547S	probably damaging	Het
Espnl	A	G	1: 91,249,943 (GRCm39)	D30G	probably benign	Het
Fasl	T	A	1: 161,609,404 (GRCm39)	Y194F	probably benign	Het
Fbxw8	T	C	5: 118,230,754 (GRCm39)	E349G	probably damaging	Het
Gen1	A	G	12: 11,312,531 (GRCm39)	V13A	possibly damaging	Het
Gm4559	A	G	7: 141,827,845 (GRCm39)	C86R	unknown	Het
H2-M9	T	C	17: 36,953,125 (GRCm39)	N61D	probably damaging	Het
H6pd	C	T	4: 150,067,247 (GRCm39)	E380K	possibly damaging	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Hspg2	T	C	4: 137,235,709 (GRCm39)	S170P	probably damaging	Het
Igsf10	G	T	3: 59,226,665 (GRCm39)	P2336Q	probably damaging	Het
Itih3	C	T	14: 30,634,572 (GRCm39)		probably null	Het
Katnb1	T	C	8: 95,822,270 (GRCm39)	Y298H	probably benign	Het
Kif21a	A	T	15: 90,819,933 (GRCm39)	N1610K	probably damaging	Het
Lce1l	A	T	3: 92,757,500 (GRCm39)	C119*	probably null	Het
Lcn2	C	T	2: 32,277,039 (GRCm39)		probably null	Het
Lmf2	A	T	15: 89,236,236 (GRCm39)	S588T	probably benign	Het
Mboat7	A	G	7: 3,688,835 (GRCm39)	L231P	probably benign	Het
Mier2	T	C	10: 79,380,547 (GRCm39)	R288G	probably damaging	Het
Mybbp1a	T	C	11: 72,338,392 (GRCm39)	V694A	probably benign	Het
Ndnf	C	A	6: 65,680,047 (GRCm39)	L109I	probably benign	Het
Nfkb1	C	A	3: 135,321,064 (GRCm39)	E230D	probably benign	Het
Nostrin	A	G	2: 69,014,271 (GRCm39)	K409R	probably benign	Het
Or1j10	A	G	2: 36,266,854 (GRCm39)	Q22R	probably benign	Het
Or1j10	C	A	2: 36,266,963 (GRCm39)	Y58*	probably null	Het
Or8k35	T	A	2: 86,424,765 (GRCm39)	M136L	probably damaging	Het
Pdpr	C	A	8: 111,851,243 (GRCm39)	T534N	probably benign	Het
Plekhf1	G	A	7: 37,921,488 (GRCm39)	Q27*	probably null	Het
Ppp6c	A	T	2: 39,087,593 (GRCm39)	H204Q	probably benign	Het
Prrc2c	T	C	1: 162,536,670 (GRCm39)		probably benign	Het
Prrg2	A	G	7: 44,709,649 (GRCm39)	F83L	probably damaging	Het
Rab11fip3	T	G	17: 26,210,692 (GRCm39)	D938A	probably damaging	Het
Rai1	A	G	11: 60,079,620 (GRCm39)	N1228S	probably benign	Het
Ryr1	G	T	7: 28,764,299 (GRCm39)	T3060K	probably benign	Het
Scube2	A	G	7: 109,409,824 (GRCm39)	I557T	probably benign	Het
Setdb1	C	A	3: 95,233,712 (GRCm39)	R1066L	probably benign	Het
Shoc1	T	C	4: 59,049,066 (GRCm39)	M1100V	probably benign	Het
Slc35f3	T	C	8: 127,121,198 (GRCm39)	V353A	probably benign	Het
Slfn3	A	T	11: 83,105,427 (GRCm39)	T475S	possibly damaging	Het
Snrnp200	T	A	2: 127,071,085 (GRCm39)	M1122K	possibly damaging	Het
Tead4	T	A	6: 128,219,444 (GRCm39)	K223*	probably null	Het
Tex2	A	C	11: 106,424,776 (GRCm39)	I334R	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Tfdp1	G	T	8: 13,427,233 (GRCm39)	V393F	possibly damaging	Het
Thsd7b	T	C	1: 129,358,644 (GRCm39)	L26P	probably damaging	Het
Trim80	T	C	11: 115,332,027 (GRCm39)	I73T	probably damaging	Het
Tssk4	T	A	14: 55,887,932 (GRCm39)	Y43N	probably damaging	Het
Ttn	T	C	2: 76,541,839 (GRCm39)	T25389A	probably damaging	Het
Ttn	A	T	2: 76,578,288 (GRCm39)	F24202I	probably damaging	Het
Vmn1r177	A	G	7: 23,565,562 (GRCm39)	S105P	probably damaging	Het
Vmn2r40	T	A	7: 8,911,203 (GRCm39)	T697S	probably benign	Het
Zfp267	T	A	3: 36,219,601 (GRCm39)	C541*	probably null	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
R6502:Hnrnpd	UTSW	5	100,114,025 (GRCm39)	missense	probably damaging	1.00
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'- CATGGTGACGGCTAAAGGTG -3'
(R):5'- TCCGTCGGCCATTTTAGGTG -3'

Sequencing Primer
(F):5'- CTAAAGGTGGAAACGTGTGTG -3'
(R):5'- CACTATGTCGGAGGAGCAGTTC -3'

Posted On

2018-08-29