Incidental Mutation 'IGL01825:Hnrnpr'
ID |
154644 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Hnrnpr
|
Ensembl Gene |
ENSMUSG00000066037 |
Gene Name |
heterogeneous nuclear ribonucleoprotein R |
Synonyms |
hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01825
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
136038253-136086758 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 136066850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 470
(Y470*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138399
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084219]
[ENSMUST00000105850]
[ENSMUST00000131671]
[ENSMUST00000148843]
|
AlphaFold |
Q8VHM5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000084219
AA Change: Y369*
|
SMART Domains |
Protein: ENSMUSP00000081239 Gene: ENSMUSG00000066037 AA Change: Y369*
Domain | Start | End | E-Value | Type |
RRM
|
166 |
240 |
1.27e-16 |
SMART |
RRM
|
247 |
324 |
9.42e-11 |
SMART |
RRM
|
342 |
407 |
3.76e-19 |
SMART |
low complexity region
|
419 |
428 |
N/A |
INTRINSIC |
low complexity region
|
433 |
496 |
N/A |
INTRINSIC |
low complexity region
|
499 |
527 |
N/A |
INTRINSIC |
low complexity region
|
531 |
574 |
N/A |
INTRINSIC |
low complexity region
|
604 |
620 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000105850
AA Change: Y470*
|
SMART Domains |
Protein: ENSMUSP00000101476 Gene: ENSMUSG00000066037 AA Change: Y470*
Domain | Start | End | E-Value | Type |
RRM
|
166 |
240 |
1.27e-16 |
SMART |
RRM
|
247 |
324 |
9.42e-11 |
SMART |
RRM
|
342 |
407 |
3.76e-19 |
SMART |
low complexity region
|
419 |
428 |
N/A |
INTRINSIC |
low complexity region
|
433 |
496 |
N/A |
INTRINSIC |
low complexity region
|
499 |
527 |
N/A |
INTRINSIC |
low complexity region
|
531 |
574 |
N/A |
INTRINSIC |
low complexity region
|
604 |
620 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000131671
AA Change: Y369*
|
SMART Domains |
Protein: ENSMUSP00000138263 Gene: ENSMUSG00000066037 AA Change: Y369*
Domain | Start | End | E-Value | Type |
RRM
|
65 |
139 |
1.27e-16 |
SMART |
RRM
|
146 |
223 |
9.42e-11 |
SMART |
RRM
|
241 |
306 |
3.76e-19 |
SMART |
low complexity region
|
318 |
327 |
N/A |
INTRINSIC |
low complexity region
|
332 |
395 |
N/A |
INTRINSIC |
low complexity region
|
398 |
426 |
N/A |
INTRINSIC |
low complexity region
|
430 |
473 |
N/A |
INTRINSIC |
low complexity region
|
503 |
519 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000148843
AA Change: Y470*
|
SMART Domains |
Protein: ENSMUSP00000138399 Gene: ENSMUSG00000066037 AA Change: Y470*
Domain | Start | End | E-Value | Type |
RRM
|
166 |
240 |
1.27e-16 |
SMART |
RRM
|
247 |
324 |
9.42e-11 |
SMART |
RRM
|
342 |
407 |
3.76e-19 |
SMART |
low complexity region
|
419 |
428 |
N/A |
INTRINSIC |
low complexity region
|
433 |
496 |
N/A |
INTRINSIC |
low complexity region
|
499 |
527 |
N/A |
INTRINSIC |
low complexity region
|
531 |
574 |
N/A |
INTRINSIC |
low complexity region
|
604 |
620 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153505
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182327
|
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 encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam30 |
A |
G |
3: 98,069,217 (GRCm39) |
E222G |
probably damaging |
Het |
Aftph |
T |
A |
11: 20,676,569 (GRCm39) |
I347F |
possibly damaging |
Het |
Braf |
T |
C |
6: 39,616,524 (GRCm39) |
D549G |
probably damaging |
Het |
Cnbd2 |
T |
A |
2: 156,180,629 (GRCm39) |
L142Q |
probably damaging |
Het |
Ctbp1 |
C |
T |
5: 33,416,477 (GRCm39) |
|
probably null |
Het |
Cuta |
T |
C |
17: 27,157,438 (GRCm39) |
I98V |
probably benign |
Het |
Dip2a |
A |
T |
10: 76,108,514 (GRCm39) |
C1226* |
probably null |
Het |
Dnah6 |
T |
C |
6: 73,042,759 (GRCm39) |
E3221G |
probably damaging |
Het |
Grm3 |
A |
G |
5: 9,561,600 (GRCm39) |
L750P |
probably damaging |
Het |
Herc1 |
T |
C |
9: 66,307,089 (GRCm39) |
Y970H |
probably benign |
Het |
Kmt2c |
T |
A |
5: 25,515,594 (GRCm39) |
I2750F |
probably damaging |
Het |
Lrig3 |
A |
T |
10: 125,845,886 (GRCm39) |
T772S |
probably damaging |
Het |
Mthfd2 |
T |
C |
6: 83,287,493 (GRCm39) |
T191A |
probably benign |
Het |
Or5p78 |
C |
A |
7: 108,212,261 (GRCm39) |
T249K |
probably damaging |
Het |
Pfkp |
A |
T |
13: 6,671,014 (GRCm39) |
N175K |
probably damaging |
Het |
Plcz1 |
T |
C |
6: 139,949,642 (GRCm39) |
D451G |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,471,210 (GRCm39) |
C994S |
probably damaging |
Het |
Ptdss1 |
T |
C |
13: 67,135,886 (GRCm39) |
I381T |
probably benign |
Het |
Scgb2b24 |
G |
T |
7: 33,438,652 (GRCm39) |
T20K |
probably damaging |
Het |
Slc23a1 |
A |
T |
18: 35,757,256 (GRCm39) |
W272R |
probably damaging |
Het |
Tcf20 |
G |
A |
15: 82,737,167 (GRCm39) |
T1428I |
probably benign |
Het |
Tnfsf9 |
A |
G |
17: 57,414,335 (GRCm39) |
D254G |
possibly damaging |
Het |
Ttc4 |
C |
T |
4: 106,528,816 (GRCm39) |
|
probably null |
Het |
Xdh |
A |
G |
17: 74,198,240 (GRCm39) |
Y1216H |
probably damaging |
Het |
Zbtb21 |
G |
T |
16: 97,753,889 (GRCm39) |
N159K |
possibly damaging |
Het |
|
Other mutations in Hnrnpr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00778:Hnrnpr
|
APN |
4 |
136,066,856 (GRCm39) |
missense |
unknown |
|
IGL00844:Hnrnpr
|
APN |
4 |
136,066,516 (GRCm39) |
missense |
probably benign |
0.17 |
IGL01374:Hnrnpr
|
APN |
4 |
136,054,729 (GRCm39) |
splice site |
probably benign |
|
IGL01704:Hnrnpr
|
APN |
4 |
136,056,692 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL01843:Hnrnpr
|
APN |
4 |
136,066,724 (GRCm39) |
splice site |
probably benign |
|
IGL01871:Hnrnpr
|
APN |
4 |
136,066,885 (GRCm39) |
missense |
unknown |
|
IGL02376:Hnrnpr
|
APN |
4 |
136,046,766 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02557:Hnrnpr
|
APN |
4 |
136,046,817 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02947:Hnrnpr
|
APN |
4 |
136,043,690 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4677001:Hnrnpr
|
UTSW |
4 |
136,056,750 (GRCm39) |
missense |
probably damaging |
1.00 |
R0142:Hnrnpr
|
UTSW |
4 |
136,054,593 (GRCm39) |
missense |
probably damaging |
1.00 |
R0219:Hnrnpr
|
UTSW |
4 |
136,066,474 (GRCm39) |
splice site |
probably benign |
|
R1459:Hnrnpr
|
UTSW |
4 |
136,056,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R1917:Hnrnpr
|
UTSW |
4 |
136,059,799 (GRCm39) |
nonsense |
probably null |
|
R2007:Hnrnpr
|
UTSW |
4 |
136,046,824 (GRCm39) |
unclassified |
probably benign |
|
R2364:Hnrnpr
|
UTSW |
4 |
136,054,640 (GRCm39) |
missense |
possibly damaging |
0.69 |
R3788:Hnrnpr
|
UTSW |
4 |
136,063,624 (GRCm39) |
missense |
probably damaging |
1.00 |
R4066:Hnrnpr
|
UTSW |
4 |
136,066,657 (GRCm39) |
intron |
probably benign |
|
R4232:Hnrnpr
|
UTSW |
4 |
136,066,500 (GRCm39) |
missense |
probably benign |
0.15 |
R4433:Hnrnpr
|
UTSW |
4 |
136,044,459 (GRCm39) |
missense |
probably benign |
0.04 |
R4664:Hnrnpr
|
UTSW |
4 |
136,044,486 (GRCm39) |
unclassified |
probably benign |
|
R4990:Hnrnpr
|
UTSW |
4 |
136,063,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R4990:Hnrnpr
|
UTSW |
4 |
136,056,690 (GRCm39) |
missense |
probably damaging |
1.00 |
R5058:Hnrnpr
|
UTSW |
4 |
136,063,648 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5328:Hnrnpr
|
UTSW |
4 |
136,066,527 (GRCm39) |
missense |
probably benign |
0.01 |
R5469:Hnrnpr
|
UTSW |
4 |
136,046,745 (GRCm39) |
missense |
probably damaging |
1.00 |
R5641:Hnrnpr
|
UTSW |
4 |
136,059,798 (GRCm39) |
missense |
probably damaging |
0.97 |
R7067:Hnrnpr
|
UTSW |
4 |
136,054,704 (GRCm39) |
missense |
probably damaging |
1.00 |
R7250:Hnrnpr
|
UTSW |
4 |
136,059,746 (GRCm39) |
missense |
probably benign |
0.45 |
R7254:Hnrnpr
|
UTSW |
4 |
136,059,886 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8213:Hnrnpr
|
UTSW |
4 |
136,044,486 (GRCm39) |
unclassified |
probably benign |
|
R8942:Hnrnpr
|
UTSW |
4 |
136,059,791 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9008:Hnrnpr
|
UTSW |
4 |
136,056,737 (GRCm39) |
missense |
probably damaging |
0.97 |
R9502:Hnrnpr
|
UTSW |
4 |
136,056,681 (GRCm39) |
missense |
probably damaging |
0.99 |
R9515:Hnrnpr
|
UTSW |
4 |
136,063,615 (GRCm39) |
missense |
probably damaging |
1.00 |
R9516:Hnrnpr
|
UTSW |
4 |
136,063,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |