Incidental Mutation 'R5016:Hnrnpul2'
ID |
385601 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hnrnpul2
|
Ensembl Gene |
ENSMUSG00000071659 |
Gene Name |
heterogeneous nuclear ribonucleoprotein U-like 2 |
Synonyms |
1110031M08Rik, Hnrpul2 |
MMRRC Submission |
042607-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.865)
|
Stock # |
R5016 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
8797374-8811507 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 8800189 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 185
(K185R)
|
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: K185R
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000094515 Gene: ENSMUSG00000071659 AA Change: K185R
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 |
|
Meta Mutation Damage Score |
0.0594 |
Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.2%
- 10x: 95.1%
- 20x: 91.0%
|
Validation Efficiency |
97% (56/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi3bp |
C |
T |
16: 56,491,631 (GRCm39) |
P768S |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,274,889 (GRCm39) |
L623P |
possibly damaging |
Het |
Anapc1 |
A |
T |
2: 128,449,095 (GRCm39) |
|
probably benign |
Het |
Ankzf1 |
C |
A |
1: 75,172,622 (GRCm39) |
|
probably benign |
Het |
Ash1l |
A |
G |
3: 88,889,630 (GRCm39) |
D503G |
probably damaging |
Het |
Atp7b |
T |
C |
8: 22,505,885 (GRCm39) |
|
probably null |
Het |
Bach1 |
T |
A |
16: 87,516,206 (GRCm39) |
V249D |
possibly damaging |
Het |
Ccdc158 |
A |
G |
5: 92,805,751 (GRCm39) |
S335P |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,733,254 (GRCm39) |
C1374* |
probably null |
Het |
Col16a1 |
C |
T |
4: 129,972,988 (GRCm39) |
T643M |
probably benign |
Het |
Cygb |
A |
G |
11: 116,540,840 (GRCm39) |
F49L |
probably benign |
Het |
Dnah17 |
G |
C |
11: 117,971,592 (GRCm39) |
T2147S |
probably damaging |
Het |
Drd3 |
C |
A |
16: 43,582,609 (GRCm39) |
A34E |
possibly damaging |
Het |
Ephb6 |
G |
A |
6: 41,595,041 (GRCm39) |
R685Q |
probably benign |
Het |
Ezh1 |
G |
A |
11: 101,090,063 (GRCm39) |
|
probably benign |
Het |
Gpr19 |
T |
A |
6: 134,846,880 (GRCm39) |
K231* |
probably null |
Het |
Gpr61 |
A |
G |
3: 108,057,983 (GRCm39) |
V226A |
possibly damaging |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Igsf9 |
A |
C |
1: 172,318,279 (GRCm39) |
T140P |
probably damaging |
Het |
Ksr2 |
A |
G |
5: 117,638,857 (GRCm39) |
D87G |
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,744,250 (GRCm39) |
E843G |
probably damaging |
Het |
Ltbp4 |
GT |
G |
7: 27,027,110 (GRCm39) |
|
probably null |
Het |
Luc7l2 |
A |
G |
6: 38,562,036 (GRCm39) |
I20V |
possibly damaging |
Het |
Mcm6 |
G |
A |
1: 128,271,164 (GRCm39) |
T485M |
probably damaging |
Het |
Miox |
A |
G |
15: 89,219,767 (GRCm39) |
D85G |
probably null |
Het |
Nudt18 |
T |
C |
14: 70,816,903 (GRCm39) |
F169S |
probably benign |
Het |
Nxpe4 |
A |
G |
9: 48,304,185 (GRCm39) |
N91D |
probably benign |
Het |
Or13c7 |
T |
C |
4: 43,854,596 (GRCm39) |
S96P |
probably benign |
Het |
Or6c215 |
A |
G |
10: 129,637,662 (GRCm39) |
V244A |
probably benign |
Het |
Or8k39 |
T |
G |
2: 86,563,090 (GRCm39) |
I289L |
probably benign |
Het |
Pdss2 |
G |
T |
10: 43,098,001 (GRCm39) |
A82S |
probably damaging |
Het |
Ptprs |
T |
C |
17: 56,726,070 (GRCm39) |
D998G |
probably damaging |
Het |
Rasd2 |
C |
A |
8: 75,948,603 (GRCm39) |
N176K |
probably damaging |
Het |
Serpinb3a |
A |
G |
1: 106,974,060 (GRCm39) |
F284L |
probably damaging |
Het |
Skint6 |
T |
A |
4: 113,028,730 (GRCm39) |
|
probably null |
Het |
Slc12a6 |
C |
T |
2: 112,186,972 (GRCm39) |
|
probably benign |
Het |
Slc22a19 |
G |
A |
19: 7,651,737 (GRCm39) |
T490M |
probably benign |
Het |
Sp2 |
A |
T |
11: 96,846,658 (GRCm39) |
C562S |
probably damaging |
Het |
Specc1 |
A |
G |
11: 62,009,783 (GRCm39) |
E433G |
possibly damaging |
Het |
Sspo |
C |
T |
6: 48,429,214 (GRCm39) |
Q451* |
probably null |
Het |
St6galnac1 |
A |
T |
11: 116,656,706 (GRCm39) |
S478T |
probably damaging |
Het |
Steap4 |
C |
T |
5: 8,026,699 (GRCm39) |
R221* |
probably null |
Het |
Ugt1a5 |
C |
G |
1: 88,093,963 (GRCm39) |
R64G |
probably benign |
Het |
Vmn1r202 |
A |
T |
13: 22,686,375 (GRCm39) |
F14Y |
probably damaging |
Het |
Vmn2r79 |
T |
C |
7: 86,686,548 (GRCm39) |
V643A |
probably benign |
Het |
Vmn2r91 |
C |
A |
17: 18,330,322 (GRCm39) |
Y535* |
probably null |
Het |
Wdr3 |
A |
T |
3: 100,048,936 (GRCm39) |
|
probably benign |
Het |
Wdr95 |
T |
C |
5: 149,468,266 (GRCm39) |
M41T |
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 |
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 |
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'- CCCGCCCATCTTAATCAGTG -3'
(R):5'- GACCTAGTCCAGTTTTCAATCCAC -3'
Sequencing Primer
(F):5'- CGCCCATCTTAATCAGTGATTTTG -3'
(R):5'- TTCCACACTGCAATCAACAATAGG -3'
|
Posted On |
2016-05-10 |