Incidental Mutation 'R1227:Hnrnpul2'
| ID |
172422 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpul2
|
| Ensembl Gene |
ENSMUSG00000071659 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein U-like 2 |
| Synonyms |
1110031M08Rik, Hnrpul2 |
| MMRRC Submission |
039296-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.827)
|
| Stock # |
R1227 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
8797374-8811507 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 8800601 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 226
(S226A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000096753
AA Change: S226A
PolyPhen 2
Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000094515
Gene: ENSMUSG00000071659
AA Change: S226A
| 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 |
noncoding transcript
Transcript: ENSMUST00000148090
|
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd42 |
T |
A |
7: 92,254,508 (GRCm39) |
H367L |
possibly damaging |
Het |
| Arvcf |
C |
T |
16: 18,207,169 (GRCm39) |
R43C |
probably benign |
Het |
| Camk1g |
T |
C |
1: 193,029,741 (GRCm39) |
E453G |
possibly damaging |
Het |
| Cmya5 |
A |
T |
13: 93,230,954 (GRCm39) |
L1378Q |
probably damaging |
Het |
| Cplx1 |
T |
C |
5: 108,673,262 (GRCm39) |
D53G |
possibly damaging |
Het |
| Ddx31 |
A |
G |
2: 28,747,187 (GRCm39) |
E222G |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Fermt2 |
A |
G |
14: 45,697,447 (GRCm39) |
S635P |
probably benign |
Het |
| Gls2 |
T |
C |
10: 128,035,533 (GRCm39) |
S104P |
probably damaging |
Het |
| Klk1b5 |
T |
C |
7: 43,496,670 (GRCm39) |
|
probably null |
Het |
| Nuak1 |
T |
A |
10: 84,276,173 (GRCm39) |
T17S |
probably benign |
Het |
| Or5b101 |
T |
C |
19: 13,005,217 (GRCm39) |
M159V |
probably benign |
Het |
| Or5p54 |
C |
A |
7: 107,554,259 (GRCm39) |
S137Y |
probably damaging |
Het |
| Prag1 |
G |
A |
8: 36,607,105 (GRCm39) |
E949K |
probably damaging |
Het |
| Pramel25 |
A |
G |
4: 143,520,134 (GRCm39) |
H126R |
probably benign |
Het |
| Rasal1 |
T |
C |
5: 120,808,372 (GRCm39) |
L468P |
probably damaging |
Het |
| Sez6l |
C |
A |
5: 112,621,330 (GRCm39) |
C248F |
probably damaging |
Het |
| Sstr2 |
T |
C |
11: 113,515,711 (GRCm39) |
I210T |
probably damaging |
Het |
| Tbc1d2 |
C |
T |
4: 46,620,629 (GRCm39) |
G394S |
probably benign |
Het |
| Zfp108 |
T |
A |
7: 23,959,885 (GRCm39) |
W159R |
probably benign |
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 |
|
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 |
|
R7688:Hnrnpul2
|
UTSW |
19 |
8,797,994 (GRCm39) |
missense |
probably benign |
|
|
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'- TGAATTCCGAGAGGAGGCTTACCAC -3'
(R):5'- ACTGGCTTACTGCAACGCTCAAC -3'
Sequencing Primer
(F):5'- AGGGAAACACTCCCTTGATG -3'
(R):5'- AGTCACTTTTagatagtccagaggc -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation