Incidental Mutation 'IGL02376:Hnrnpr'
ID |
291129 |
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 # |
IGL02376
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
136038253-136086758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 136046766 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Aspartic acid
at position 149
(G149D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000138399
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084219]
[ENSMUST00000105850]
[ENSMUST00000125696]
[ENSMUST00000131671]
[ENSMUST00000134524]
[ENSMUST00000145282]
[ENSMUST00000148843]
[ENSMUST00000156259]
|
AlphaFold |
Q8VHM5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084219
AA Change: G48D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081239 Gene: ENSMUSG00000066037 AA Change: G48D
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 damaging
Transcript: ENSMUST00000105850
AA Change: G149D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101476 Gene: ENSMUSG00000066037 AA Change: G149D
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 damaging
Transcript: ENSMUST00000125696
AA Change: G48D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131671
AA Change: G48D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138263 Gene: ENSMUSG00000066037 AA Change: G48D
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 damaging
Transcript: ENSMUST00000134524
AA Change: G149D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000119666 Gene: ENSMUSG00000066037 AA Change: G149D
Domain | Start | End | E-Value | Type |
RRM
|
166 |
240 |
1.27e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145282
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148843
AA Change: G149D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000138399 Gene: ENSMUSG00000066037 AA Change: G149D
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 benign
Transcript: ENSMUST00000156259
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb1 |
A |
G |
6: 88,815,466 (GRCm39) |
|
probably benign |
Het |
Adcy3 |
G |
A |
12: 4,251,031 (GRCm39) |
E597K |
possibly damaging |
Het |
Adcy9 |
A |
G |
16: 4,236,544 (GRCm39) |
V289A |
probably benign |
Het |
Akr1d1 |
A |
T |
6: 37,507,220 (GRCm39) |
D14V |
probably damaging |
Het |
Ankrd12 |
T |
C |
17: 66,349,524 (GRCm39) |
|
probably benign |
Het |
Arap3 |
T |
C |
18: 38,111,506 (GRCm39) |
T1137A |
possibly damaging |
Het |
Arhgef4 |
A |
T |
1: 34,845,140 (GRCm39) |
Q77L |
probably damaging |
Het |
Arhgef7 |
A |
G |
8: 11,867,735 (GRCm39) |
T444A |
probably damaging |
Het |
Arr3 |
A |
C |
X: 99,658,281 (GRCm39) |
K281Q |
probably damaging |
Het |
Arrdc2 |
A |
T |
8: 71,291,623 (GRCm39) |
I114N |
probably benign |
Het |
Atg2b |
A |
T |
12: 105,611,727 (GRCm39) |
F1217Y |
probably damaging |
Het |
C1qtnf1 |
A |
C |
11: 118,338,894 (GRCm39) |
Y188S |
probably benign |
Het |
Cbx6 |
C |
A |
15: 79,712,500 (GRCm39) |
R309L |
probably benign |
Het |
Cfap410 |
A |
G |
10: 77,820,388 (GRCm39) |
|
probably benign |
Het |
Chrna9 |
T |
C |
5: 66,128,502 (GRCm39) |
S237P |
probably damaging |
Het |
Dapk1 |
G |
A |
13: 60,844,208 (GRCm39) |
V76I |
probably benign |
Het |
Elk4 |
T |
A |
1: 131,942,288 (GRCm39) |
N53K |
probably benign |
Het |
Epha7 |
A |
C |
4: 28,951,287 (GRCm39) |
T799P |
probably damaging |
Het |
Exosc2 |
G |
A |
2: 31,569,887 (GRCm39) |
V233M |
possibly damaging |
Het |
Fam217b |
A |
G |
2: 178,059,366 (GRCm39) |
D3G |
probably benign |
Het |
Farp1 |
T |
A |
14: 121,510,268 (GRCm39) |
N755K |
probably damaging |
Het |
Fer |
A |
G |
17: 64,241,341 (GRCm39) |
E327G |
possibly damaging |
Het |
Fmnl3 |
A |
T |
15: 99,216,844 (GRCm39) |
F1017Y |
possibly damaging |
Het |
Gabbr2 |
A |
C |
4: 46,684,300 (GRCm39) |
I658S |
probably damaging |
Het |
Gemin2 |
A |
G |
12: 59,068,506 (GRCm39) |
D195G |
probably benign |
Het |
Gtf3c1 |
T |
A |
7: 125,268,168 (GRCm39) |
Y875F |
probably benign |
Het |
Krt74 |
A |
C |
15: 101,662,938 (GRCm39) |
|
noncoding transcript |
Het |
Ltf |
A |
G |
9: 110,858,692 (GRCm39) |
D480G |
probably benign |
Het |
Map1b |
A |
G |
13: 99,572,103 (GRCm39) |
L206P |
probably damaging |
Het |
Meis1 |
T |
C |
11: 18,831,752 (GRCm39) |
M429V |
probably benign |
Het |
Myh4 |
C |
A |
11: 67,136,554 (GRCm39) |
T444N |
probably benign |
Het |
Nckap1l |
A |
T |
15: 103,379,658 (GRCm39) |
Y315F |
possibly damaging |
Het |
Ndst3 |
A |
G |
3: 123,350,447 (GRCm39) |
I646T |
probably damaging |
Het |
Ndufv1 |
T |
C |
19: 4,057,823 (GRCm39) |
|
probably null |
Het |
Ogdhl |
T |
C |
14: 32,065,275 (GRCm39) |
Y710H |
probably damaging |
Het |
Or4c52 |
A |
G |
2: 89,845,804 (GRCm39) |
I177V |
probably benign |
Het |
Otud7b |
A |
G |
3: 96,062,354 (GRCm39) |
K531R |
possibly damaging |
Het |
Pax3 |
T |
C |
1: 78,108,929 (GRCm39) |
Y243C |
probably damaging |
Het |
Pde1a |
A |
G |
2: 79,705,567 (GRCm39) |
|
probably benign |
Het |
Pik3cb |
C |
T |
9: 98,934,405 (GRCm39) |
M813I |
probably benign |
Het |
Prss42 |
A |
T |
9: 110,632,175 (GRCm39) |
D302V |
possibly damaging |
Het |
Rad52 |
T |
C |
6: 119,892,191 (GRCm39) |
|
probably benign |
Het |
Reln |
A |
T |
5: 22,285,789 (GRCm39) |
Y393* |
probably null |
Het |
Rhbdd3 |
T |
C |
11: 5,053,192 (GRCm39) |
|
probably benign |
Het |
Sbf2 |
C |
T |
7: 110,062,163 (GRCm39) |
G138D |
probably damaging |
Het |
Slco1a1 |
A |
T |
6: 141,870,060 (GRCm39) |
|
probably null |
Het |
Smg9 |
A |
G |
7: 24,114,455 (GRCm39) |
I265V |
probably benign |
Het |
Sppl2b |
G |
T |
10: 80,703,432 (GRCm39) |
E565* |
probably null |
Het |
Stx6 |
T |
A |
1: 155,077,725 (GRCm39) |
V244D |
probably benign |
Het |
Tle4 |
T |
C |
19: 14,571,768 (GRCm39) |
N78D |
probably damaging |
Het |
Tmcc3 |
A |
G |
10: 94,414,429 (GRCm39) |
I44V |
possibly damaging |
Het |
Tnnt3 |
C |
T |
7: 142,066,295 (GRCm39) |
T220I |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,557,811 (GRCm39) |
D29798E |
possibly damaging |
Het |
Vtcn1 |
A |
T |
3: 100,799,981 (GRCm39) |
M281L |
probably benign |
Het |
Zfp595 |
T |
C |
13: 67,464,514 (GRCm39) |
K586R |
possibly damaging |
Het |
Zfta |
C |
T |
19: 7,399,741 (GRCm39) |
P496L |
probably 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 |
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 |
|
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 |
2015-04-16 |