Incidental Mutation 'IGL00778:Hnrnpr'
ID |
11314 |
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 # |
IGL00778
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
136038253-136086758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 136066856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 472
(D472E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138399
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084219]
[ENSMUST00000105850]
[ENSMUST00000131671]
[ENSMUST00000148843]
|
AlphaFold |
Q8VHM5 |
Predicted Effect |
unknown
Transcript: ENSMUST00000084219
AA Change: D371E
|
SMART Domains |
Protein: ENSMUSP00000081239 Gene: ENSMUSG00000066037 AA Change: D371E
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 |
unknown
Transcript: ENSMUST00000105850
AA Change: D472E
|
SMART Domains |
Protein: ENSMUSP00000101476 Gene: ENSMUSG00000066037 AA Change: D472E
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 |
unknown
Transcript: ENSMUST00000131671
AA Change: D371E
|
SMART Domains |
Protein: ENSMUSP00000138263 Gene: ENSMUSG00000066037 AA Change: D371E
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 |
unknown
Transcript: ENSMUST00000148843
AA Change: D472E
|
SMART Domains |
Protein: ENSMUSP00000138399 Gene: ENSMUSG00000066037 AA Change: D472E
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: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503E14Rik |
G |
A |
14: 44,401,391 (GRCm39) |
H152Y |
probably benign |
Het |
Abca1 |
T |
C |
4: 53,086,132 (GRCm39) |
D457G |
probably benign |
Het |
Atp8a1 |
T |
G |
5: 67,817,246 (GRCm39) |
K913N |
possibly damaging |
Het |
Cd180 |
G |
A |
13: 102,841,917 (GRCm39) |
S321N |
probably benign |
Het |
Cdc14b |
T |
C |
13: 64,363,470 (GRCm39) |
N264D |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,387,109 (GRCm39) |
C1724S |
probably benign |
Het |
Chil4 |
A |
G |
3: 106,109,113 (GRCm39) |
S397P |
probably benign |
Het |
Clpb |
C |
T |
7: 101,427,815 (GRCm39) |
R387* |
probably null |
Het |
Csgalnact2 |
A |
T |
6: 118,103,233 (GRCm39) |
M1K |
probably null |
Het |
Enpp3 |
C |
A |
10: 24,674,160 (GRCm39) |
C380F |
probably damaging |
Het |
Gtf3c1 |
G |
A |
7: 125,266,546 (GRCm39) |
R967W |
probably damaging |
Het |
Klhl28 |
A |
T |
12: 64,996,840 (GRCm39) |
D500E |
probably damaging |
Het |
Lmo7 |
C |
T |
14: 102,148,321 (GRCm39) |
|
probably benign |
Het |
Mphosph8 |
A |
G |
14: 56,911,900 (GRCm39) |
I308V |
probably benign |
Het |
Myo6 |
T |
A |
9: 80,190,868 (GRCm39) |
|
probably null |
Het |
Nsmaf |
C |
T |
4: 6,435,056 (GRCm39) |
|
probably null |
Het |
Padi6 |
T |
A |
4: 140,454,934 (GRCm39) |
I668L |
possibly damaging |
Het |
Pigw |
A |
G |
11: 84,768,150 (GRCm39) |
I393T |
possibly damaging |
Het |
Prg3 |
G |
A |
2: 84,824,076 (GRCm39) |
C212Y |
probably damaging |
Het |
Pwp1 |
T |
C |
10: 85,715,752 (GRCm39) |
V267A |
probably benign |
Het |
Raver2 |
C |
A |
4: 100,953,468 (GRCm39) |
Q79K |
probably benign |
Het |
Sdr9c7 |
T |
C |
10: 127,745,697 (GRCm39) |
S270P |
probably damaging |
Het |
Sfmbt2 |
A |
G |
2: 10,406,818 (GRCm39) |
E39G |
probably damaging |
Het |
Strada |
A |
G |
11: 106,061,976 (GRCm39) |
|
probably benign |
Het |
Xrn1 |
T |
C |
9: 95,855,500 (GRCm39) |
|
probably benign |
Het |
Zic3 |
A |
G |
X: 57,079,779 (GRCm39) |
Y424C |
probably damaging |
Het |
|
Other mutations in Hnrnpr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL01825:Hnrnpr
|
APN |
4 |
136,066,850 (GRCm39) |
nonsense |
probably null |
|
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 |
2012-12-06 |