Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02654:Hnrnpc'

302261

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hnrnpc

Ensembl Gene

ENSMUSG00000060373

Gene Name

heterogeneous nuclear ribonucleoprotein C

Synonyms

D14Wsu171e, Hnrpc1, Hnrpc2, hnRNP C2, hnRNP C1, Hnrpc, hnRNPC1, hnRNPC2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02654

Quality Score

Status

Chromosome

Chromosomal Location

52310834-52341485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52321574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 80 (L80S)

Ref Sequence

ENSEMBL: ENSMUSP00000154182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111610] [ENSMUST00000164655] [ENSMUST00000226993] [ENSMUST00000227195] [ENSMUST00000227242] [ENSMUST00000227458] [ENSMUST00000227536] [ENSMUST00000228232] [ENSMUST00000228748] [ENSMUST00000228198] [ENSMUST00000228815]

AlphaFold

Q9Z204

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111610
AA Change: L80S

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107237
Gene: ENSMUSG00000060373
AA Change: L80S

Domain	Start	End	E-Value	Type
RRM	17	83	8.13e-15	SMART
low complexity region	112	121	N/A	INTRINSIC
low complexity region	140	155	N/A	INTRINSIC
low complexity region	175	191	N/A	INTRINSIC
low complexity region	210	225	N/A	INTRINSIC
low complexity region	260	303	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164655
AA Change: L80S

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000133052
Gene: ENSMUSG00000060373
AA Change: L80S

Domain	Start	End	E-Value	Type
RRM	17	83	8.13e-15	SMART
low complexity region	112	121	N/A	INTRINSIC
low complexity region	140	155	N/A	INTRINSIC
low complexity region	175	191	N/A	INTRINSIC
low complexity region	210	225	N/A	INTRINSIC
low complexity region	260	303	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000226993
AA Change: L80S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227195
AA Change: L80S

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227242
AA Change: L80S

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227458
AA Change: L80S

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227536
AA Change: L80S

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228232
AA Change: L80S

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228748
AA Change: L80S

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000228198
AA Change: L80S

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228045

Predicted Effect

probably benign
Transcript: ENSMUST00000228815

Coding Region Coverage

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 can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele fail to undergo gastrulation, appear to arrest at the egg cylinder stage, and are resorbed at various times thereafter. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 8,977,826 (GRCm39)	I468T	possibly damaging	Het
Actmap	A	G	7: 26,903,298 (GRCm39)	E289G	probably damaging	Het
Anxa13	A	G	15: 58,205,397 (GRCm39)		noncoding transcript	Het
Arhgef33	A	G	17: 80,677,740 (GRCm39)	Y429C	probably damaging	Het
Bdh1	T	C	16: 31,275,433 (GRCm39)		probably benign	Het
Dennd4a	A	G	9: 64,817,473 (GRCm39)		probably benign	Het
Dld	G	T	12: 31,383,916 (GRCm39)	H396N	probably benign	Het
Dsg1b	T	C	18: 20,542,319 (GRCm39)	V942A	probably damaging	Het
Eln	A	T	5: 134,745,908 (GRCm39)		probably benign	Het
Fat3	G	A	9: 15,908,271 (GRCm39)	T2577M	possibly damaging	Het
Gad1	A	T	2: 70,403,125 (GRCm39)	K73M	possibly damaging	Het
Gipc1	T	C	8: 84,389,780 (GRCm39)	V253A	probably damaging	Het
Gtpbp10	A	C	5: 5,593,372 (GRCm39)		probably benign	Het
Hgf	A	T	5: 16,766,049 (GRCm39)	T62S	probably benign	Het
Hivep1	T	C	13: 42,311,161 (GRCm39)	S1134P	probably damaging	Het
Kif20a	G	A	18: 34,765,076 (GRCm39)	R770H	probably damaging	Het
Lcat	T	C	8: 106,666,401 (GRCm39)	T374A	possibly damaging	Het
Mlana	A	G	19: 29,682,018 (GRCm39)		probably null	Het
Nhsl3	C	T	4: 129,116,112 (GRCm39)	G851R	probably damaging	Het
Nynrin	A	G	14: 56,100,716 (GRCm39)	I169V	possibly damaging	Het
Or2ag15	A	T	7: 106,340,555 (GRCm39)	Y195*	probably null	Het
P3h3	A	G	6: 124,822,228 (GRCm39)	V585A	possibly damaging	Het
Pcdhb17	T	A	18: 37,619,614 (GRCm39)	M468K	probably benign	Het
Prl8a2	T	G	13: 27,536,780 (GRCm39)	I134S	possibly damaging	Het
Rev3l	T	C	10: 39,738,730 (GRCm39)	V2828A	probably damaging	Het
Rhbdd1	G	T	1: 82,320,504 (GRCm39)	V163F	probably benign	Het
Rrp1	A	G	10: 78,248,773 (GRCm39)	V5A	probably benign	Het
Sephs1	A	T	2: 4,889,366 (GRCm39)	N48I	probably benign	Het
Speer4a3	T	A	5: 26,158,205 (GRCm39)	H49L	probably benign	Het
Vmn1r71	A	G	7: 10,482,242 (GRCm39)	Y149H	probably benign	Het
Wiz	T	C	17: 32,578,324 (GRCm39)	D396G	probably damaging	Het
Xirp2	A	G	2: 67,345,015 (GRCm39)	S2419G	possibly damaging	Het
Zfp128	A	G	7: 12,618,606 (GRCm39)	T35A	possibly damaging	Het
Zmym2	T	A	14: 57,148,772 (GRCm39)	F362Y	probably damaging	Het

Other mutations in Hnrnpc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:Hnrnpc	APN	14	52,319,330 (GRCm39)	missense	probably null	0.01
IGL03248:Hnrnpc	APN	14	52,312,896 (GRCm39)	intron	probably benign
R0502:Hnrnpc	UTSW	14	52,312,629 (GRCm39)	splice site	probably benign
R1663:Hnrnpc	UTSW	14	52,312,852 (GRCm39)	missense	probably damaging	1.00
R4496:Hnrnpc	UTSW	14	52,312,888 (GRCm39)	missense	probably benign	0.10
R5191:Hnrnpc	UTSW	14	52,314,964 (GRCm39)	missense	probably damaging	1.00
R7555:Hnrnpc	UTSW	14	52,312,610 (GRCm39)	nonsense	probably null
R7570:Hnrnpc	UTSW	14	52,312,556 (GRCm39)	missense	possibly damaging	0.53
R8035:Hnrnpc	UTSW	14	52,321,719 (GRCm39)	missense	possibly damaging	0.95
R8860:Hnrnpc	UTSW	14	52,312,792 (GRCm39)	missense	possibly damaging	0.73
Z1177:Hnrnpc	UTSW	14	52,314,886 (GRCm39)	missense	possibly damaging	0.93

Posted On

2015-04-16