Incidental Mutation 'R7254:Hnrnpr'
ID |
564127 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hnrnpr
|
Ensembl Gene |
ENSMUSG00000066037 |
Gene Name |
heterogeneous nuclear ribonucleoprotein R |
Synonyms |
hnRNPR, Hnrpr, 2610528B01Rik, 2610003J05Rik |
MMRRC Submission |
045315-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7254 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
136038253-136086758 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 136059886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 330
(E330G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101476
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084219]
[ENSMUST00000105850]
[ENSMUST00000131671]
[ENSMUST00000134524]
[ENSMUST00000145282]
[ENSMUST00000148843]
|
AlphaFold |
Q8VHM5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000084219
AA Change: E229G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000081239 Gene: ENSMUSG00000066037 AA Change: E229G
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 |
possibly damaging
Transcript: ENSMUST00000105850
AA Change: E330G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101476 Gene: ENSMUSG00000066037 AA Change: E330G
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 |
possibly damaging
Transcript: ENSMUST00000131671
AA Change: E229G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000138263 Gene: ENSMUSG00000066037 AA Change: E229G
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 benign
Transcript: ENSMUST00000134524
|
SMART Domains |
Protein: ENSMUSP00000119666 Gene: ENSMUSG00000066037
Domain | Start | End | E-Value | Type |
RRM
|
166 |
240 |
1.27e-16 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145282
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000148843
AA Change: E330G
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000138399 Gene: ENSMUSG00000066037 AA Change: E330G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
98% (59/60) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
A |
T |
7: 43,147,623 (GRCm39) |
D249E |
probably damaging |
Het |
Acacb |
A |
C |
5: 114,347,812 (GRCm39) |
|
probably null |
Het |
Adnp |
A |
G |
2: 168,025,918 (GRCm39) |
V459A |
probably damaging |
Het |
Arid3b |
T |
C |
9: 57,704,037 (GRCm39) |
K304E |
probably damaging |
Het |
Ash1l |
G |
T |
3: 88,977,816 (GRCm39) |
R2713L |
probably damaging |
Het |
Bmpr1a |
A |
C |
14: 34,136,720 (GRCm39) |
D490E |
probably benign |
Het |
Cacna1g |
A |
T |
11: 94,323,393 (GRCm39) |
C1270* |
probably null |
Het |
Cep295nl |
G |
T |
11: 118,223,866 (GRCm39) |
P326Q |
probably damaging |
Het |
Cfap100 |
T |
C |
6: 90,383,043 (GRCm39) |
I377V |
unknown |
Het |
Creb1 |
C |
T |
1: 64,615,436 (GRCm39) |
Q223* |
probably null |
Het |
Ctsc |
G |
A |
7: 87,958,767 (GRCm39) |
G349D |
probably damaging |
Het |
Ddx41 |
G |
A |
13: 55,681,769 (GRCm39) |
R311* |
probably null |
Het |
Dpcd |
A |
G |
19: 45,565,473 (GRCm39) |
Q149R |
probably benign |
Het |
Dse |
T |
A |
10: 34,060,144 (GRCm39) |
|
probably benign |
Het |
Dync2i1 |
A |
G |
12: 116,226,205 (GRCm39) |
|
probably benign |
Het |
Eef2k |
C |
T |
7: 120,488,488 (GRCm39) |
H458Y |
probably benign |
Het |
Gipr |
A |
T |
7: 18,897,538 (GRCm39) |
V90E |
probably damaging |
Het |
Gm14412 |
A |
T |
2: 177,009,189 (GRCm39) |
D22E |
probably damaging |
Het |
Gm21886 |
A |
T |
18: 80,132,950 (GRCm39) |
C69* |
probably null |
Het |
Gm5114 |
G |
A |
7: 39,058,390 (GRCm39) |
L410F |
probably benign |
Het |
Gmip |
T |
A |
8: 70,269,118 (GRCm39) |
|
probably null |
Het |
Gtf2f1 |
T |
C |
17: 57,314,101 (GRCm39) |
T128A |
possibly damaging |
Het |
Hoxd9 |
T |
A |
2: 74,528,718 (GRCm39) |
W107R |
probably damaging |
Het |
Iars1 |
T |
C |
13: 49,876,554 (GRCm39) |
|
probably null |
Het |
Idh2 |
TCCCAGGGCC |
TCC |
7: 79,748,079 (GRCm39) |
|
probably null |
Het |
Ifi213 |
G |
T |
1: 173,421,529 (GRCm39) |
P120Q |
probably damaging |
Het |
Il6 |
A |
T |
5: 30,219,906 (GRCm39) |
Q94L |
probably benign |
Het |
Kcnab1 |
A |
G |
3: 65,226,908 (GRCm39) |
S196G |
probably benign |
Het |
Kcnv1 |
C |
T |
15: 44,976,604 (GRCm39) |
V228I |
probably benign |
Het |
Lars2 |
A |
G |
9: 123,284,028 (GRCm39) |
T739A |
possibly damaging |
Het |
Med13 |
T |
C |
11: 86,210,661 (GRCm39) |
S494G |
probably benign |
Het |
Mtrf1 |
GCCTTC |
GC |
14: 79,660,931 (GRCm39) |
|
probably null |
Het |
Myh9 |
T |
G |
15: 77,650,024 (GRCm39) |
Q1646P |
probably damaging |
Het |
Nif3l1 |
T |
A |
1: 58,489,625 (GRCm39) |
S171R |
probably benign |
Het |
Or13n4 |
A |
G |
7: 106,422,777 (GRCm39) |
*319Q |
probably null |
Het |
Or1e1c |
A |
G |
11: 73,266,201 (GRCm39) |
I212V |
probably benign |
Het |
Or1r1 |
A |
G |
11: 73,874,603 (GRCm39) |
V277A |
probably benign |
Het |
Or51f23 |
A |
G |
7: 102,452,765 (GRCm39) |
T27A |
probably benign |
Het |
Or5b113 |
A |
T |
19: 13,342,475 (GRCm39) |
D161V |
probably benign |
Het |
Or6c5b |
T |
C |
10: 129,245,649 (GRCm39) |
V138A |
probably benign |
Het |
Or8c8 |
T |
C |
9: 38,164,719 (GRCm39) |
M2T |
probably benign |
Het |
Pak5 |
A |
T |
2: 135,958,684 (GRCm39) |
S135T |
possibly damaging |
Het |
Prr29 |
A |
T |
11: 106,265,684 (GRCm39) |
M1L |
probably damaging |
Het |
Ptpn13 |
T |
A |
5: 103,742,502 (GRCm39) |
V2407E |
probably damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,741,978 (GRCm39) |
H1310L |
probably damaging |
Het |
Raph1 |
T |
C |
1: 60,538,767 (GRCm39) |
S393G |
unknown |
Het |
Rgl2 |
T |
C |
17: 34,153,964 (GRCm39) |
F457L |
possibly damaging |
Het |
Ror2 |
A |
G |
13: 53,272,756 (GRCm39) |
I303T |
possibly damaging |
Het |
Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
Scn10a |
C |
T |
9: 119,447,921 (GRCm39) |
D1378N |
probably damaging |
Het |
Serpinc1 |
T |
A |
1: 160,821,188 (GRCm39) |
C91S |
probably benign |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spata31d1e |
T |
C |
13: 59,889,790 (GRCm39) |
I677V |
probably benign |
Het |
Tada1 |
T |
A |
1: 166,216,217 (GRCm39) |
C139* |
probably null |
Het |
Tbr1 |
T |
A |
2: 61,636,386 (GRCm39) |
V254E |
probably damaging |
Het |
Timd4 |
A |
T |
11: 46,734,016 (GRCm39) |
I340F |
probably benign |
Het |
Tubb2a |
T |
C |
13: 34,258,515 (GRCm39) |
Y425C |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,819,476 (GRCm39) |
M287K |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAACAGAGGGTTTGGTGGAC -3'
(R):5'- GTCCTAACATCAAATAAATGCTCGG -3'
Sequencing Primer
(F):5'- GGTGGACGTTATTCTCTATCATCAAC -3'
(R):5'- AAATGCTCGGTGTGTATGAAAC -3'
|
Posted On |
2019-06-26 |