Incidental Mutation 'PIT4677001:Hnrnpr'
| ID |
556548 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4677001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
136038253-136086758 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136056750 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 250
(V250D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101476
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084219]
[ENSMUST00000105850]
[ENSMUST00000125696]
[ENSMUST00000131671]
[ENSMUST00000134524]
[ENSMUST00000145282]
[ENSMUST00000148843]
|
| AlphaFold |
Q8VHM5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084219
AA Change: V149D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081239
Gene: ENSMUSG00000066037
AA Change: V149D
| 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: V250D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101476
Gene: ENSMUSG00000066037
AA Change: V250D
| 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: ENSMUST00000125696
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131671
AA Change: V149D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138263
Gene: ENSMUSG00000066037
AA Change: V149D
| 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: V250D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119666
Gene: ENSMUSG00000066037
AA Change: V250D
| 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: V250D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000138399
Gene: ENSMUSG00000066037
AA Change: V250D
| 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: 93.3%
- 3x: 90.8%
- 10x: 84.5%
- 20x: 71.0%
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810024B03Rik |
T |
A |
2: 127,028,933 (GRCm39) |
T89S |
probably benign |
Het |
| 4921517D22Rik |
A |
T |
13: 59,838,305 (GRCm39) |
F176I |
probably benign |
Het |
| Acsm3 |
A |
G |
7: 119,374,340 (GRCm39) |
D264G |
probably damaging |
Het |
| Adamts12 |
T |
A |
15: 11,286,896 (GRCm39) |
F834I |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,856,583 (GRCm39) |
M171L |
probably benign |
Het |
| Arid5b |
A |
T |
10: 67,933,841 (GRCm39) |
M687K |
probably damaging |
Het |
| AU040320 |
A |
T |
4: 126,686,030 (GRCm39) |
Q202L |
probably benign |
Het |
| Ccdc47 |
A |
G |
11: 106,099,034 (GRCm39) |
L219P |
probably damaging |
Het |
| Cfhr2 |
T |
G |
1: 139,733,117 (GRCm39) |
S301R |
unknown |
Het |
| Cog2 |
T |
A |
8: 125,272,010 (GRCm39) |
V508E |
probably benign |
Het |
| Cpb2 |
A |
G |
14: 75,493,463 (GRCm39) |
T47A |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,425,288 (GRCm39) |
K692I |
possibly damaging |
Het |
| Defb34 |
A |
T |
8: 19,176,412 (GRCm39) |
R34S |
possibly damaging |
Het |
| Fads2 |
A |
T |
19: 10,047,694 (GRCm39) |
I275N |
probably damaging |
Het |
| Fmn2 |
T |
G |
1: 174,474,699 (GRCm39) |
S1221A |
probably damaging |
Het |
| Fndc3a |
A |
T |
14: 72,812,035 (GRCm39) |
V302E |
probably benign |
Het |
| Galntl6 |
C |
T |
8: 58,310,621 (GRCm39) |
C360Y |
probably damaging |
Het |
| Gm16519 |
A |
T |
17: 71,236,506 (GRCm39) |
I152F |
probably benign |
Het |
| Hs3st6 |
A |
G |
17: 24,977,285 (GRCm39) |
D255G |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,113 (GRCm39) |
Y657H |
possibly damaging |
Het |
| Ino80 |
C |
T |
2: 119,208,026 (GRCm39) |
V1422M |
probably benign |
Het |
| Insyn2b |
A |
T |
11: 34,353,122 (GRCm39) |
N388I |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,396,021 (GRCm39) |
I669V |
probably benign |
Het |
| Layn |
A |
T |
9: 50,968,711 (GRCm39) |
V344E |
probably damaging |
Het |
| Mgll |
A |
T |
6: 88,802,663 (GRCm39) |
R273W |
possibly damaging |
Het |
| Myh2 |
G |
A |
11: 67,072,818 (GRCm39) |
S636N |
probably benign |
Het |
| Nmur2 |
A |
T |
11: 55,923,835 (GRCm39) |
S240T |
probably benign |
Het |
| Pkd1 |
T |
G |
17: 24,793,003 (GRCm39) |
S1563R |
possibly damaging |
Het |
| Ppp4r3b |
G |
A |
11: 29,137,978 (GRCm39) |
V109I |
probably benign |
Het |
| Prdm2 |
A |
T |
4: 142,861,648 (GRCm39) |
D547E |
probably damaging |
Het |
| Prss46 |
A |
T |
9: 110,685,098 (GRCm39) |
M241L |
probably benign |
Het |
| Ptprf |
T |
A |
4: 118,070,809 (GRCm39) |
I1397F |
probably damaging |
Het |
| Pus10 |
A |
T |
11: 23,670,171 (GRCm39) |
T418S |
possibly damaging |
Het |
| Qsox2 |
T |
C |
2: 26,112,320 (GRCm39) |
D74G |
probably damaging |
Het |
| Sctr |
T |
C |
1: 119,989,634 (GRCm39) |
V383A |
probably damaging |
Het |
| Siglec1 |
T |
A |
2: 130,914,677 (GRCm39) |
N1480Y |
probably damaging |
Het |
| Skint2 |
T |
C |
4: 112,483,135 (GRCm39) |
I180T |
probably benign |
Het |
| Snd1 |
A |
G |
6: 28,880,295 (GRCm39) |
I690V |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,624,435 (GRCm39) |
T575A |
probably damaging |
Het |
| Srbd1 |
G |
A |
17: 86,422,640 (GRCm39) |
R459* |
probably null |
Het |
| Tll2 |
C |
A |
19: 41,118,997 (GRCm39) |
V244L |
probably benign |
Het |
| Tmem60 |
A |
G |
5: 21,091,366 (GRCm39) |
I44V |
probably benign |
Het |
| Utrn |
T |
A |
10: 12,542,448 (GRCm39) |
I1846F |
probably benign |
Het |
| Vinac1 |
T |
C |
2: 128,880,636 (GRCm39) |
D430G |
|
Het |
| Vps8 |
T |
C |
16: 21,319,084 (GRCm39) |
F641S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGCAAGTGTGAGGGAGC -3'
(R):5'- CTTCCACTTGAGAGCTAGAGAG -3'
Sequencing Primer
(F):5'- CAAGTGTGAGGGAGCTTGGTG -3'
(R):5'- GCAACTGATACATAGGAAACTTGAAC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation