Incidental Mutation 'R7688:Hnrnpul2'
| ID |
593229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpul2
|
| Ensembl Gene |
ENSMUSG00000071659 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein U-like 2 |
| Synonyms |
1110031M08Rik, Hnrpul2 |
| MMRRC Submission |
045752-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.865)
|
| Stock # |
R7688 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
8797374-8811507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 8797994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 117
(S117T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000094515
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000088092]
[ENSMUST00000096751]
[ENSMUST00000096753]
[ENSMUST00000153281]
|
| AlphaFold |
Q00PI9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088092
|
| SMART Domains |
Protein: ENSMUSP00000085413
Gene: ENSMUSG00000071660
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
8 |
41 |
1.11e1 |
SMART |
|
TPR
|
72 |
107 |
3.41e1 |
SMART |
|
TPR
|
108 |
141 |
7.34e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096751
|
| SMART Domains |
Protein: ENSMUSP00000094513
Gene: ENSMUSG00000071660
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
8 |
41 |
1.11e1 |
SMART |
|
TPR
|
72 |
107 |
3.41e1 |
SMART |
|
TPR
|
108 |
141 |
7.34e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096753
AA Change: S117T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000094515
Gene: ENSMUSG00000071659
AA Change: S117T
| Domain | Start | End | E-Value | Type |
|---|
|
SAP
|
3 |
37 |
6.03e-9 |
SMART |
|
low complexity region
|
68 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
224 |
240 |
N/A |
INTRINSIC |
|
SPRY
|
287 |
416 |
5.23e-32 |
SMART |
|
Pfam:AAA_33
|
452 |
597 |
1.2e-25 |
PFAM |
|
low complexity region
|
637 |
666 |
N/A |
INTRINSIC |
|
low complexity region
|
700 |
719 |
N/A |
INTRINSIC |
|
low complexity region
|
728 |
745 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153281
|
| SMART Domains |
Protein: ENSMUSP00000120656
Gene: ENSMUSG00000071660
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
6 |
93 |
1e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bag6 |
T |
C |
17: 35,365,868 (GRCm39) |
Y1102H |
probably damaging |
Het |
| Cldn24 |
G |
A |
8: 48,275,740 (GRCm39) |
C188Y |
probably damaging |
Het |
| Dennd4c |
T |
C |
4: 86,713,377 (GRCm39) |
W443R |
probably damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,088,938 (GRCm39) |
C2806S |
probably benign |
Het |
| Epb41l2 |
T |
C |
10: 25,355,036 (GRCm39) |
Y449H |
probably damaging |
Het |
| Ets1 |
T |
A |
9: 32,607,720 (GRCm39) |
I14N |
probably benign |
Het |
| F11 |
A |
T |
8: 45,703,127 (GRCm39) |
F188I |
probably damaging |
Het |
| Fam13a |
C |
T |
6: 58,912,692 (GRCm39) |
V654I |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,613,135 (GRCm39) |
V369I |
probably benign |
Het |
| Focad |
T |
A |
4: 88,096,370 (GRCm39) |
Y251N |
probably damaging |
Het |
| Gm5150 |
A |
G |
3: 16,017,747 (GRCm39) |
S175P |
probably benign |
Het |
| Kcnj5 |
A |
G |
9: 32,234,264 (GRCm39) |
V17A |
probably benign |
Het |
| Kctd1 |
T |
G |
18: 15,107,255 (GRCm39) |
T737P |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,422,392 (GRCm39) |
V894A |
probably damaging |
Het |
| Klhl12 |
A |
T |
1: 134,416,768 (GRCm39) |
T497S |
probably benign |
Het |
| Klhl6 |
C |
A |
16: 19,765,881 (GRCm39) |
V574L |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,068,623 (GRCm39) |
D774V |
|
Het |
| Leng1 |
G |
A |
7: 3,665,809 (GRCm39) |
P176L |
probably benign |
Het |
| Lig1 |
T |
C |
7: 13,023,389 (GRCm39) |
L196P |
probably benign |
Het |
| Macrod1 |
C |
A |
19: 7,174,230 (GRCm39) |
Y245* |
probably null |
Het |
| Mcf2l |
T |
A |
8: 12,998,130 (GRCm39) |
I6N |
possibly damaging |
Het |
| Megf11 |
A |
G |
9: 64,599,146 (GRCm39) |
D687G |
possibly damaging |
Het |
| Muc4 |
A |
T |
16: 32,570,278 (GRCm39) |
H446L |
possibly damaging |
Het |
| Oasl2 |
A |
T |
5: 115,035,909 (GRCm39) |
I62F |
probably benign |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Or14a257 |
A |
G |
7: 86,138,183 (GRCm39) |
V192A |
probably benign |
Het |
| Or4b12 |
A |
T |
2: 90,095,959 (GRCm39) |
F272I |
probably damaging |
Het |
| Or52e8 |
C |
A |
7: 104,624,332 (GRCm39) |
A291S |
possibly damaging |
Het |
| Pdcl2 |
T |
C |
5: 76,465,770 (GRCm39) |
N150S |
probably benign |
Het |
| Pfkfb3 |
A |
G |
2: 11,497,450 (GRCm39) |
Y54H |
probably damaging |
Het |
| Rab25 |
A |
T |
3: 88,452,270 (GRCm39) |
|
probably null |
Het |
| Slc22a18 |
G |
A |
7: 143,033,560 (GRCm39) |
G104S |
probably damaging |
Het |
| Slc44a5 |
T |
A |
3: 153,679,437 (GRCm39) |
|
probably null |
Het |
| Slc5a8 |
A |
G |
10: 88,757,561 (GRCm39) |
Y517C |
probably damaging |
Het |
| Spata18 |
A |
G |
5: 73,809,005 (GRCm39) |
N26S |
probably benign |
Het |
| Tas2r115 |
T |
A |
6: 132,714,643 (GRCm39) |
S103C |
probably damaging |
Het |
| Tigd2 |
T |
A |
6: 59,187,382 (GRCm39) |
M83K |
probably damaging |
Het |
| Tnxb |
T |
A |
17: 34,890,880 (GRCm39) |
C408S |
probably benign |
Het |
| Trbj2-3 |
T |
A |
6: 41,520,159 (GRCm39) |
S1R |
possibly damaging |
Het |
| Triobp |
T |
C |
15: 78,845,311 (GRCm39) |
|
probably null |
Het |
| Uaca |
A |
G |
9: 60,781,409 (GRCm39) |
Q1349R |
probably benign |
Het |
| Ube2j2 |
T |
A |
4: 156,040,885 (GRCm39) |
L171I |
probably damaging |
Het |
| Usp17ld |
C |
A |
7: 102,899,982 (GRCm39) |
G317W |
probably damaging |
Het |
| Vinac1 |
G |
A |
2: 128,880,964 (GRCm39) |
Q321* |
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,404,098 (GRCm39) |
D31V |
probably benign |
Het |
| Zfp317 |
T |
G |
9: 19,559,251 (GRCm39) |
H488Q |
probably damaging |
Het |
|
| Other mutations in Hnrnpul2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01989:Hnrnpul2
|
APN |
19 |
8,800,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0136:Hnrnpul2
|
UTSW |
19 |
8,804,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0369:Hnrnpul2
|
UTSW |
19 |
8,801,777 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0781:Hnrnpul2
|
UTSW |
19 |
8,804,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0784:Hnrnpul2
|
UTSW |
19 |
8,802,416 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1110:Hnrnpul2
|
UTSW |
19 |
8,804,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1227:Hnrnpul2
|
UTSW |
19 |
8,800,601 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1589:Hnrnpul2
|
UTSW |
19 |
8,808,696 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2126:Hnrnpul2
|
UTSW |
19 |
8,801,802 (GRCm39) |
nonsense |
probably null |
|
|
R2226:Hnrnpul2
|
UTSW |
19 |
8,802,349 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2243:Hnrnpul2
|
UTSW |
19 |
8,798,001 (GRCm39) |
missense |
probably benign |
|
|
R3703:Hnrnpul2
|
UTSW |
19 |
8,801,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4038:Hnrnpul2
|
UTSW |
19 |
8,800,591 (GRCm39) |
unclassified |
probably benign |
|
|
R4856:Hnrnpul2
|
UTSW |
19 |
8,807,191 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4886:Hnrnpul2
|
UTSW |
19 |
8,807,191 (GRCm39) |
missense |
probably benign |
0.20 |
|
R5016:Hnrnpul2
|
UTSW |
19 |
8,800,189 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5365:Hnrnpul2
|
UTSW |
19 |
8,798,080 (GRCm39) |
missense |
probably benign |
|
|
R5435:Hnrnpul2
|
UTSW |
19 |
8,797,682 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5951:Hnrnpul2
|
UTSW |
19 |
8,802,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6181:Hnrnpul2
|
UTSW |
19 |
8,800,596 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6824:Hnrnpul2
|
UTSW |
19 |
8,804,081 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6924:Hnrnpul2
|
UTSW |
19 |
8,808,873 (GRCm39) |
missense |
unknown |
|
|
R6978:Hnrnpul2
|
UTSW |
19 |
8,801,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7602:Hnrnpul2
|
UTSW |
19 |
8,808,673 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7726:Hnrnpul2
|
UTSW |
19 |
8,808,644 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7749:Hnrnpul2
|
UTSW |
19 |
8,797,788 (GRCm39) |
missense |
probably benign |
|
|
R7753:Hnrnpul2
|
UTSW |
19 |
8,802,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8007:Hnrnpul2
|
UTSW |
19 |
8,798,179 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8725:Hnrnpul2
|
UTSW |
19 |
8,798,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8727:Hnrnpul2
|
UTSW |
19 |
8,798,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8901:Hnrnpul2
|
UTSW |
19 |
8,801,809 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8994:Hnrnpul2
|
UTSW |
19 |
8,802,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9012:Hnrnpul2
|
UTSW |
19 |
8,801,829 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9187:Hnrnpul2
|
UTSW |
19 |
8,808,319 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9347:Hnrnpul2
|
UTSW |
19 |
8,798,080 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATGCTGAGATGCTGGAGGAC -3'
(R):5'- CACTTTCGGGCAAGTGGAAAC -3'
Sequencing Primer
(F):5'- ATGCTGGAGGACGAGGCC -3'
(R):5'- ATCAGATAGCGCGGTGC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation