Mutagenetix > Incidental Mutation

Incidental Mutation 'RF020:Hnrnpa2b1'

603793

Institutional Source

Beutler Lab

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: 0.956) question?

Stock #

RF020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51437912-51446874 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51443674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 92 (K92N)

Ref Sequence

ENSEMBL: ENSMUSP00000067491 (fasta)

Gene Model

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

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: K92N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067491
Gene: ENSMUSG00000004980
AA Change: K92N

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: K92N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000087453
Gene: ENSMUSG00000004980
AA Change: K92N

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 benign
Transcript: ENSMUST00000114459
AA Change: K104N

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110103
Gene: ENSMUSG00000004980
AA Change: K104N

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: 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

Predicted Effect

probably damaging
Transcript: ENSMUST00000203220
AA Change: K92N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145374
Gene: ENSMUSG00000004980
AA Change: K92N

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: ENSMUST00000203954
AA Change: K104N

PolyPhen 2 Score 0.226 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000145028
Gene: ENSMUSG00000004980
AA Change: K104N

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: K92N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145383
Gene: ENSMUSG00000004980
AA Change: K92N

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: ENSMUST00000204188
AA Change: K92N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000145245
Gene: ENSMUSG00000004980
AA Change: K92N

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,132,880 (GRCm39)	K1270E	possibly damaging	Het
Adgrb2	T	C	4: 129,903,877 (GRCm39)	S668P	probably damaging	Het
Ahdc1	T	G	4: 132,791,588 (GRCm39)	L943R	possibly damaging	Het
Ank2	T	C	3: 126,739,125 (GRCm39)	K2253R	unknown	Het
Arhgap23	T	C	11: 97,354,387 (GRCm39)	S767P	probably damaging	Het
Arhgef12	A	G	9: 42,901,285 (GRCm39)	I839T	possibly damaging	Het
Begain	CGCCGC	CGCCGCGGCCGC	12: 108,999,350 (GRCm39)		probably benign	Het
Btbd19	A	T	4: 116,979,472 (GRCm39)	C116S	probably damaging	Het
Cbr1	C	T	16: 93,407,067 (GRCm39)	A261V	probably benign	Het
Ccdc137	A	G	11: 120,349,022 (GRCm39)	R18G	probably benign	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,865,876 (GRCm39)		probably benign	Het
Celsr3	C	T	9: 108,726,256 (GRCm39)	R3162C	probably benign	Het
Cep350	A	T	1: 155,791,224 (GRCm39)	V1300E	probably benign	Het
Cluh	G	GCCAGAT	11: 74,560,364 (GRCm39)		probably benign	Het
Cmya5	G	T	13: 93,205,799 (GRCm39)	Q3357K	possibly damaging	Het
Col6a2	T	G	10: 76,442,043 (GRCm39)		probably null	Het
Cyp2j9	T	A	4: 96,465,889 (GRCm39)	T315S	probably damaging	Het
Cyp3a13	CATTATT	CATT	5: 137,892,525 (GRCm39)		probably null	Het
Dnah6	T	A	6: 73,095,040 (GRCm39)	Y2181F	probably benign	Het
Dnah7b	A	G	1: 46,412,421 (GRCm39)	D4010G	possibly damaging	Het
E4f1	CCG	CCGACG	17: 24,674,169 (GRCm39)		probably benign	Het
Ep300	A	T	15: 81,470,772 (GRCm39)		probably benign	Het
Fam234a	A	G	17: 26,437,725 (GRCm39)	V90A	probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,623 (GRCm39)		probably benign	Het
Gal3st1	A	G	11: 3,948,153 (GRCm39)	Y120C	possibly damaging	Het
Garin5a	GGA	GGAAGGGTGGATCCTGGATACCTGGGTCTGAGGGAAGA	7: 44,149,959 (GRCm39)		probably null	Het
Gm5475	GTGGAAGGAAAGGT	G	15: 100,325,030 (GRCm39)		probably null	Het
Gm6665	T	TC	18: 31,953,430 (GRCm39)		probably null	Het
Hdlbp	T	C	1: 93,368,456 (GRCm39)	T8A	probably benign	Het
Hsdl2	GGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	GGAGCAGCCACAGCTGCAGGAGCAGCCACAGCTGCAGGAGAAGCCACAGCTGCAGGAGCAGCCACAGC	4: 59,610,640 (GRCm39)		probably benign	Het
Klhl10	C	G	11: 100,332,896 (GRCm39)	Q14E	probably benign	Het
Klra2	GAAAGAAATCCA	GAAAGAAATCCAAAGAAATCCA	6: 131,198,801 (GRCm39)		probably null	Het
Kmt2b	CC	CCTCCTGC	7: 30,285,807 (GRCm39)		probably benign	Het
Krt1c	A	G	15: 101,726,403 (GRCm39)	I45T	unknown	Het
Ksr2	T	C	5: 117,693,283 (GRCm39)	S244P	probably benign	Het
Lama5	A	T	2: 179,837,971 (GRCm39)	M915K	probably benign	Het
Lrp1b	A	C	2: 41,660,858 (GRCm39)	H197Q		Het
Lrrc1	T	C	9: 77,359,913 (GRCm39)	E293G	probably damaging	Het
Med12l	AACA	AACAACA	3: 59,183,379 (GRCm39)		probably benign	Het
Mgam	T	A	6: 40,662,243 (GRCm39)	Y1179N	probably damaging	Het
Mgat4c	A	G	10: 102,224,928 (GRCm39)	I381V	probably benign	Het
Mrgprx1	A	AGAC	7: 47,671,259 (GRCm39)		probably benign	Het
Myc	A	T	15: 61,857,672 (GRCm39)		probably benign	Het
Nipbl	A	G	15: 8,388,418 (GRCm39)	S401P	probably damaging	Het
Nlrp9c	A	T	7: 26,084,649 (GRCm39)	I310N	probably benign	Het
Nwd2	C	A	5: 63,963,066 (GRCm39)	Y883*	probably null	Het
Oas1e	T	A	5: 120,932,383 (GRCm39)	T87S	possibly damaging	Het
Or10n7-ps1	GA	GATACA	9: 39,598,049 (GRCm39)		probably null	Het
Or51a5	A	T	7: 102,771,098 (GRCm39)	C294S	probably benign	Het
Or52d3	A	G	7: 104,229,497 (GRCm39)	M215V	probably benign	Het
Or8b38	G	A	9: 37,972,620 (GRCm39)	M1I	probably null	Het
Pappa	T	G	4: 65,123,282 (GRCm39)	S872R	possibly damaging	Het
Parp4	T	C	14: 56,884,806 (GRCm39)	L1295P	unknown	Het
Pcdh15	A	T	10: 74,021,242 (GRCm39)	Y152F	probably damaging	Het
Pdk1	A	T	2: 71,714,240 (GRCm39)	I217L	possibly damaging	Het
Phldb1	A	C	9: 44,609,243 (GRCm39)	C450W	probably damaging	Het
Pnma8a	C	CCATGATGCACCTGCTTCAACATCA	7: 16,695,376 (GRCm39)		probably benign	Het
Prl2c5	G	A	13: 13,360,497 (GRCm39)	G55S	probably benign	Het
Psme2b	A	T	11: 48,836,397 (GRCm39)	H183Q	probably damaging	Het
Ptms	CCTCCTC	CCTCCTCCTC	6: 124,891,412 (GRCm39)		probably benign	Het
Rln3	T	C	8: 84,769,931 (GRCm39)	T73A	probably benign	Het
Rprd1a	T	A	18: 24,663,062 (GRCm39)	Q21L	probably damaging	Het
Septin3	A	T	15: 82,168,662 (GRCm39)	D155V	probably damaging	Het
Sh3rf3	T	A	10: 58,649,590 (GRCm39)	V65E	probably damaging	Het
Shank3	A	G	15: 89,384,593 (GRCm39)	N155S	probably benign	Het
Shox2	G	T	3: 66,881,146 (GRCm39)	P278Q	probably damaging	Het
Slc1a1	T	C	19: 28,856,555 (GRCm39)		probably null	Het
Slc39a10	A	T	1: 46,849,175 (GRCm39)	F814I	probably damaging	Het
Slc5a1	T	C	5: 33,290,773 (GRCm39)	I119T	probably damaging	Het
Slc6a13	T	C	6: 121,301,310 (GRCm39)		probably null	Het
Spmap2l	CAGCGATCCTCCCCAGTCCCGCAAGGC	CAGCGATCCTCCCCAGTCCCGCAAGGCGAGCGATCCTCCCCAGTCCCGCAAGGC	5: 77,164,247 (GRCm39)		probably benign	Het
Spta1	A	G	1: 174,041,010 (GRCm39)	D1270G	probably benign	Het
Spta1	T	A	1: 174,045,469 (GRCm39)	F1542L	probably damaging	Het
Tacc3	T	A	5: 33,818,568 (GRCm39)	M1K	probably null	Het
Tax1bp1	T	C	6: 52,698,339 (GRCm39)	V17A	probably damaging	Het
Tmem156	T	A	5: 65,248,890 (GRCm39)	E3D	probably benign	Het
Tmem209	T	A	6: 30,487,417 (GRCm39)	M530L	probably benign	Het
Trpc2	A	G	7: 101,745,433 (GRCm39)	D883G	unknown	Het
Tsen34	GGAGCCAAAAT	G	7: 3,698,795 (GRCm39)		probably null	Het
Uhrf2	T	C	19: 30,063,791 (GRCm39)	Y585H	probably damaging	Het
Vmn1r26	T	A	6: 57,985,705 (GRCm39)	K161N	probably benign	Het
Vmn1r29	A	G	6: 58,284,528 (GRCm39)	S83G	probably benign	Het
Vps13b	G	T	15: 35,925,552 (GRCm39)	W3829L	probably null	Het
Vwce	G	A	19: 10,630,449 (GRCm39)	G503R	probably damaging	Het
Zc3h11a	T	C	1: 133,554,735 (GRCm39)	E415G	possibly damaging	Het
Zc3h14	T	A	12: 98,746,541 (GRCm39)		probably null	Het
Zfp119b	A	T	17: 56,246,499 (GRCm39)	M229K	probably benign	Het
Zfp384	CCAAGCTCAAGC	CCAAGC	6: 125,013,418 (GRCm39)		probably benign	Het
Zfp384	GGCCCAGGC	GGCCCAGGCCCACGCCCAGGC	6: 125,013,451 (GRCm39)		probably benign	Het
Zyx	T	A	6: 42,334,330 (GRCm39)	L518Q	probably damaging	Het

Other mutations in Hnrnpa2b1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00809:Hnrnpa2b1	APN	6	51,443,993 (GRCm39)	missense	probably damaging	1.00
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
Z1176:Hnrnpa2b1	UTSW	6	51,444,223 (GRCm39)	missense	probably damaging	1.00
Z1177:Hnrnpa2b1	UTSW	6	51,441,509 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCACAGGATCATGGTCATCAAAAG -3'
(R):5'- GAGCCAAAACGTGCTGTAGC -3'

Sequencing Primer
(F):5'- GTAACAAAGCCAAAGCCTCTTTTC -3'
(R):5'- AAACACATTGATCTCCTTTCTTGTAC -3'

Posted On

2019-12-04