Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00809:Hnrnpa2b1'

11310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hnrnpa2b1

Ensembl Gene

ENSMUSG00000004980

Gene Name

heterogeneous nuclear ribonucleoprotein A2/B1

Synonyms

9130414A06Rik, Hnrpa2, Hnrpa2b1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

IGL00809

Quality Score

Status

Chromosome

Chromosomal Location

51437912-51446874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51443993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 65 (G65S)

Ref Sequence

ENSEMBL: ENSMUSP00000145028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031862] [ENSMUST00000069949] [ENSMUST00000090002] [ENSMUST00000094623] [ENSMUST00000114445] [ENSMUST00000114446] [ENSMUST00000114459] [ENSMUST00000204188] [ENSMUST00000203220] [ENSMUST00000203954] [ENSMUST00000204158] [ENSMUST00000141711]

AlphaFold

O88569

Predicted Effect

probably benign
Transcript: ENSMUST00000031862

SMART Domains

Protein: ENSMUSP00000031862
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
CHROMO	29	81	2.03e-17	SMART
low complexity region	90	113	N/A	INTRINSIC
ChSh	115	177	6.46e-34	SMART
CHROMO	120	172	5.92e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000069949
AA Change: G53S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067491
Gene: ENSMUSG00000004980
AA Change: G53S

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
Pfam:HnRNPA1	245	282	5.1e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000090002
AA Change: G53S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087453
Gene: ENSMUSG00000004980
AA Change: G53S

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
low complexity region	186	295	N/A	INTRINSIC
low complexity region	310	341	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094623

SMART Domains

Protein: ENSMUSP00000110091
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
CHROMO	29	81	2.03e-17	SMART
low complexity region	90	113	N/A	INTRINSIC
ChSh	115	177	6.46e-34	SMART
CHROMO	120	172	5.92e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000114445

SMART Domains

Protein: ENSMUSP00000110088
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
Pfam:Chromo	30	60	1.4e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114446

SMART Domains

Protein: ENSMUSP00000110089
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
CHROMO	29	81	2.03e-17	SMART
low complexity region	90	113	N/A	INTRINSIC
ChSh	115	177	6.46e-34	SMART
CHROMO	120	172	5.92e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114459
AA Change: G65S

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

SMART Domains

Protein: ENSMUSP00000110103
Gene: ENSMUSG00000004980
AA Change: G65S

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
low complexity region	186	295	N/A	INTRINSIC
low complexity region	310	341	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000204188
AA Change: G53S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145245
Gene: ENSMUSG00000004980
AA Change: G53S

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
Pfam:HnRNPA1	245	282	9.5e-19	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203220
AA Change: G53S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145374
Gene: ENSMUSG00000004980
AA Change: G53S

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
low complexity region	186	295	N/A	INTRINSIC
low complexity region	310	341	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000203954
AA Change: G65S

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

SMART Domains

Protein: ENSMUSP00000145028
Gene: ENSMUSG00000004980
AA Change: G65S

Domain	Start	End	E-Value	Type
RRM	22	94	1.51e-23	SMART
RRM	113	185	7.64e-20	SMART
low complexity region	198	307	N/A	INTRINSIC
low complexity region	322	353	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000204158
AA Change: G53S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145383
Gene: ENSMUSG00000004980
AA Change: G53S

Domain	Start	End	E-Value	Type
RRM	10	82	1.51e-23	SMART
RRM	101	173	7.64e-20	SMART
Pfam:HnRNPA1	245	282	9.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000203253

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204090

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204885

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204902

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203655

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156463

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153699

Predicted Effect

probably benign
Transcript: ENSMUST00000141711

SMART Domains

Protein: ENSMUSP00000121370
Gene: ENSMUSG00000029836

Domain	Start	End	E-Value	Type
CHROMO	29	81	2.03e-17	SMART
low complexity region	90	109	N/A	INTRINSIC

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 A/B 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 repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,092,983 (GRCm39)	T113A	possibly damaging	Het
Akap10	T	A	11: 61,805,897 (GRCm39)	N277I	possibly damaging	Het
Ankrd24	A	T	10: 81,478,901 (GRCm39)		probably benign	Het
Bfsp2	T	C	9: 103,330,297 (GRCm39)	E180G	possibly damaging	Het
Cd55	A	T	1: 130,380,248 (GRCm39)	Y243*	probably null	Het
Col17a1	G	T	19: 47,669,842 (GRCm39)	H103Q	probably damaging	Het
Diaph3	A	T	14: 87,237,463 (GRCm39)	H311Q	probably damaging	Het
Dnah1	G	A	14: 31,022,766 (GRCm39)	Q1124*	probably null	Het
Faim	G	A	9: 98,874,218 (GRCm39)	G15R	probably damaging	Het
Fzr1	G	T	10: 81,206,359 (GRCm39)	S137*	probably null	Het
Gnl3	A	G	14: 30,736,146 (GRCm39)	I298T	possibly damaging	Het
Hsd17b7	A	T	1: 169,793,324 (GRCm39)	Y88*	probably null	Het
Itga2	C	A	13: 115,014,161 (GRCm39)	A256S	probably damaging	Het
Itga7	T	C	10: 128,775,038 (GRCm39)		probably null	Het
Ivl	T	A	3: 92,479,819 (GRCm39)	Q82L	possibly damaging	Het
Lin28a	C	T	4: 133,735,367 (GRCm39)	G90S	probably damaging	Het
Lkaaear1	A	T	2: 181,339,127 (GRCm39)	S108T	probably benign	Het
Mfsd11	T	A	11: 116,750,177 (GRCm39)	S105T	probably damaging	Het
Osbpl9	C	T	4: 108,990,960 (GRCm39)	R100H	probably damaging	Het
Pals2	C	T	6: 50,173,569 (GRCm39)	R478C	probably benign	Het
Pclo	T	A	5: 14,725,811 (GRCm39)	D1556E	unknown	Het
Phip	G	A	9: 82,753,356 (GRCm39)	S1796F	probably damaging	Het
Phtf1	T	C	3: 103,895,983 (GRCm39)	S226P	probably benign	Het
Rapgef6	C	A	11: 54,540,126 (GRCm39)	Q734K	probably damaging	Het
Scn9a	A	T	2: 66,314,279 (GRCm39)	I1802N	probably damaging	Het
Slit2	G	A	5: 48,146,493 (GRCm39)	E95K	possibly damaging	Het
Stab2	A	T	10: 86,684,038 (GRCm39)		probably benign	Het
Trpc7	T	C	13: 56,970,301 (GRCm39)	I373V	probably benign	Het
Ttbk2	T	A	2: 120,590,750 (GRCm39)	D303V	probably damaging	Het
Ylpm1	T	C	12: 85,095,968 (GRCm39)	I1163T	probably damaging	Het

Other mutations in Hnrnpa2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4142001:Hnrnpa2b1	UTSW	6	51,441,089 (GRCm39)	missense	probably benign	0.10
R1617:Hnrnpa2b1	UTSW	6	51,443,378 (GRCm39)	missense	possibly damaging	0.69
R4694:Hnrnpa2b1	UTSW	6	51,441,163 (GRCm39)	missense	probably damaging	1.00
R5422:Hnrnpa2b1	UTSW	6	51,442,208 (GRCm39)	missense	probably benign	0.23
R5854:Hnrnpa2b1	UTSW	6	51,443,589 (GRCm39)	unclassified	probably benign
R7666:Hnrnpa2b1	UTSW	6	51,443,917 (GRCm39)	missense	possibly damaging	0.53
R7877:Hnrnpa2b1	UTSW	6	51,443,302 (GRCm39)	missense	unknown
R8481:Hnrnpa2b1	UTSW	6	51,444,391 (GRCm39)	missense	probably benign	0.08
R8856:Hnrnpa2b1	UTSW	6	51,443,120 (GRCm39)	critical splice donor site	probably null
RF020:Hnrnpa2b1	UTSW	6	51,443,674 (GRCm39)	missense	probably damaging	0.99
Z1176:Hnrnpa2b1	UTSW	6	51,444,223 (GRCm39)	missense	probably damaging	1.00
Z1177:Hnrnpa2b1	UTSW	6	51,441,509 (GRCm39)	missense	unknown

Posted On

2012-12-06