Incidental Mutation 'R8481:Hnrnpa2b1'
| ID |
657521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpa2b1
|
| Ensembl Gene |
ENSMUSG00000004980 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein A2/B1 |
| Synonyms |
9130414A06Rik, Hnrpa2, Hnrpa2b1 |
| MMRRC Submission |
067925-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R8481 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
51437912-51446874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51444391 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 8
(V8I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145028
(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 benign
Transcript: ENSMUST00000069949
|
| SMART Domains |
Protein: ENSMUSP00000067491
Gene: ENSMUSG00000004980
| 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 benign
Transcript: ENSMUST00000090002
|
| SMART Domains |
Protein: ENSMUSP00000087453
Gene: ENSMUSG00000004980
| 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: V8I
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000110103
Gene: ENSMUSG00000004980
AA Change: V8I
| 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 benign
Transcript: ENSMUST00000203220
|
| SMART Domains |
Protein: ENSMUSP00000145374
Gene: ENSMUSG00000004980
| 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: ENSMUST00000203253
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203954
AA Change: V8I
PolyPhen 2
Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000145028
Gene: ENSMUSG00000004980
AA Change: V8I
| 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 benign
Transcript: ENSMUST00000204158
|
| SMART Domains |
Protein: ENSMUSP00000145383
Gene: ENSMUSG00000004980
| 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: ENSMUST00000204188
|
| SMART Domains |
Protein: ENSMUSP00000145245
Gene: ENSMUSG00000004980
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
98% (45/46) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,398,381 (GRCm39) |
Y380* |
probably null |
Het |
| Apob |
T |
A |
12: 8,044,807 (GRCm39) |
|
probably null |
Het |
| Aste1 |
G |
A |
9: 105,274,189 (GRCm39) |
R143Q |
possibly damaging |
Het |
| BC024139 |
T |
C |
15: 76,004,882 (GRCm39) |
D598G |
probably damaging |
Het |
| Bpifb9a |
T |
C |
2: 154,111,399 (GRCm39) |
V551A |
probably benign |
Het |
| Ccdc88b |
A |
T |
19: 6,831,900 (GRCm39) |
L427Q |
probably damaging |
Het |
| Cept1 |
A |
G |
3: 106,412,569 (GRCm39) |
V301A |
probably benign |
Het |
| Chuk |
G |
T |
19: 44,084,678 (GRCm39) |
H306Q |
probably benign |
Het |
| Cryzl1 |
C |
A |
16: 91,504,161 (GRCm39) |
E69* |
probably null |
Het |
| Cul5 |
A |
T |
9: 53,558,123 (GRCm39) |
D160E |
probably benign |
Het |
| Dlec1 |
G |
A |
9: 118,972,335 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,575,753 (GRCm39) |
M2954V |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,419,941 (GRCm39) |
D3746E |
probably benign |
Het |
| Dnm1 |
A |
G |
2: 32,230,490 (GRCm39) |
V108A |
probably benign |
Het |
| Dpp9 |
C |
A |
17: 56,501,467 (GRCm39) |
D582Y |
possibly damaging |
Het |
| Evi2 |
T |
A |
11: 79,406,288 (GRCm39) |
|
probably benign |
Het |
| Got2 |
T |
A |
8: 96,615,152 (GRCm39) |
|
probably benign |
Het |
| Gria2 |
A |
T |
3: 80,708,998 (GRCm39) |
H61Q |
possibly damaging |
Het |
| Impg2 |
A |
G |
16: 56,072,629 (GRCm39) |
I354V |
possibly damaging |
Het |
| Letm2 |
T |
C |
8: 26,070,375 (GRCm39) |
K421R |
possibly damaging |
Het |
| Lrp1 |
T |
C |
10: 127,404,779 (GRCm39) |
D1974G |
probably damaging |
Het |
| Magi2 |
A |
T |
5: 20,594,152 (GRCm39) |
E5D |
possibly damaging |
Het |
| Mprip |
T |
A |
11: 59,648,982 (GRCm39) |
Y895* |
probably null |
Het |
| Myo5c |
T |
C |
9: 75,208,726 (GRCm39) |
F1679S |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,114,597 (GRCm39) |
K4221E |
probably damaging |
Het |
| Nek4 |
A |
G |
14: 30,685,991 (GRCm39) |
Y308C |
probably damaging |
Het |
| Nrsn1 |
T |
C |
13: 25,437,598 (GRCm39) |
N110S |
probably damaging |
Het |
| Or11a4 |
T |
A |
17: 37,536,295 (GRCm39) |
I93K |
probably damaging |
Het |
| Or4k40 |
T |
A |
2: 111,250,994 (GRCm39) |
I101F |
possibly damaging |
Het |
| Padi2 |
A |
G |
4: 140,660,564 (GRCm39) |
Q348R |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,198,814 (GRCm39) |
T324I |
probably benign |
Het |
| Pon3 |
C |
T |
6: 5,221,715 (GRCm39) |
R305H |
probably benign |
Het |
| Prlhr |
A |
G |
19: 60,456,125 (GRCm39) |
V147A |
possibly damaging |
Het |
| Ptpn21 |
T |
C |
12: 98,655,153 (GRCm39) |
T605A |
probably benign |
Het |
| Rabep1 |
T |
C |
11: 70,777,953 (GRCm39) |
S162P |
probably damaging |
Het |
| Rgs7bp |
A |
G |
13: 105,190,716 (GRCm39) |
S3P |
probably damaging |
Het |
| Sec24d |
T |
A |
3: 123,147,073 (GRCm39) |
L677H |
probably damaging |
Het |
| Slc13a3 |
T |
C |
2: 165,275,958 (GRCm39) |
R263G |
probably damaging |
Het |
| Slu7 |
C |
A |
11: 43,328,320 (GRCm39) |
L45M |
probably damaging |
Het |
| Slu7 |
T |
A |
11: 43,328,321 (GRCm39) |
L45Q |
probably damaging |
Het |
| Sp140 |
A |
G |
1: 85,569,512 (GRCm39) |
D374G |
probably damaging |
Het |
| Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
| Tex36 |
A |
T |
7: 133,189,189 (GRCm39) |
S128T |
probably damaging |
Het |
| Tpbg |
T |
C |
9: 85,726,138 (GRCm39) |
S36P |
unknown |
Het |
| Tubgcp2 |
C |
A |
7: 139,613,588 (GRCm39) |
D30Y |
probably damaging |
Het |
| Vmn1r19 |
T |
C |
6: 57,381,932 (GRCm39) |
S162P |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTTTCCCCATTGCTCATAGTAG -3'
(R):5'- TGACCTAAGAGCTGGGTATGG -3'
Sequencing Primer
(F):5'- CAAACTTTCTTCTGTGGTTTCAAAGC -3'
(R):5'- ACCTAAGAGCTGGGTATGGTTTTTC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation