Incidental Mutation 'R5046:Cryzl2'
ID |
394357 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cryzl2
|
Ensembl Gene |
ENSMUSG00000033488 |
Gene Name |
crystallin zeta like 2 |
Synonyms |
quinone reductase-like 2, BC026585 |
MMRRC Submission |
042636-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5046 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
157286147-157320208 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 157292583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 122
(C122R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113664
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046743]
[ENSMUST00000119891]
[ENSMUST00000193791]
|
AlphaFold |
Q3UNZ8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046743
AA Change: C122R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000044945 Gene: ENSMUSG00000033488 AA Change: C122R
Domain | Start | End | E-Value | Type |
Pfam:ADH_N
|
51 |
174 |
4.1e-14 |
PFAM |
Pfam:ADH_zinc_N
|
175 |
309 |
2.5e-23 |
PFAM |
Pfam:ADH_zinc_N_2
|
208 |
347 |
2.8e-16 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119891
AA Change: C122R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000113664 Gene: ENSMUSG00000033488 AA Change: C122R
Domain | Start | End | E-Value | Type |
Pfam:ADH_N
|
51 |
159 |
1.1e-17 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000193791
AA Change: C122R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000141717 Gene: ENSMUSG00000033488 AA Change: C122R
Domain | Start | End | E-Value | Type |
Pfam:ADH_N
|
51 |
159 |
1.9e-15 |
PFAM |
low complexity region
|
166 |
180 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000195702
AA Change: C49R
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
All alleles(1) : Targeted, other(1) |
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
C |
A |
7: 119,302,597 (GRCm39) |
H241N |
probably damaging |
Het |
Arhgap32 |
G |
A |
9: 32,168,095 (GRCm39) |
A693T |
probably damaging |
Het |
B4galnt3 |
G |
T |
6: 120,191,759 (GRCm39) |
A658D |
probably damaging |
Het |
Car12 |
G |
A |
9: 66,653,895 (GRCm39) |
E84K |
probably benign |
Het |
Crocc2 |
T |
A |
1: 93,133,624 (GRCm39) |
S969T |
probably damaging |
Het |
Crym |
A |
G |
7: 119,794,667 (GRCm39) |
V184A |
possibly damaging |
Het |
Defb30 |
T |
C |
14: 63,273,463 (GRCm39) |
E49G |
probably benign |
Het |
Dnah3 |
A |
G |
7: 119,550,803 (GRCm39) |
L3161P |
probably damaging |
Het |
Dnajc5g |
A |
G |
5: 31,267,036 (GRCm39) |
N104S |
probably benign |
Het |
Fcgr1 |
T |
G |
3: 96,194,302 (GRCm39) |
K195T |
probably damaging |
Het |
Gal |
C |
T |
19: 3,461,167 (GRCm39) |
R89H |
probably damaging |
Het |
Gcfc2 |
C |
T |
6: 81,925,316 (GRCm39) |
A577V |
probably benign |
Het |
Gm5116 |
A |
C |
7: 32,195,379 (GRCm39) |
|
noncoding transcript |
Het |
Golga3 |
A |
T |
5: 110,340,806 (GRCm39) |
Q540L |
probably damaging |
Het |
Hectd1 |
T |
C |
12: 51,797,171 (GRCm39) |
E2184G |
probably damaging |
Het |
Hspa12a |
T |
C |
19: 58,787,977 (GRCm39) |
D615G |
probably damaging |
Het |
Igkv14-130 |
A |
T |
6: 67,768,465 (GRCm39) |
Y107F |
probably damaging |
Het |
Ldlr |
T |
A |
9: 21,657,203 (GRCm39) |
|
probably null |
Het |
Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
Lrrc37a |
A |
T |
11: 103,389,066 (GRCm39) |
S2120T |
unknown |
Het |
Mtfmt |
G |
T |
9: 65,346,897 (GRCm39) |
V164F |
probably damaging |
Het |
Nampt |
T |
C |
12: 32,883,037 (GRCm39) |
V74A |
probably damaging |
Het |
Ndufc2 |
G |
T |
7: 97,056,871 (GRCm39) |
R120L |
probably damaging |
Het |
Neo1 |
A |
T |
9: 58,801,194 (GRCm39) |
V1156D |
possibly damaging |
Het |
Nlrp1b |
G |
A |
11: 71,050,898 (GRCm39) |
P1065S |
possibly damaging |
Het |
Nop9 |
A |
G |
14: 55,983,397 (GRCm39) |
H56R |
possibly damaging |
Het |
Or4k41 |
A |
T |
2: 111,279,934 (GRCm39) |
T150S |
probably benign |
Het |
Or6c75 |
A |
T |
10: 129,337,178 (GRCm39) |
M142L |
possibly damaging |
Het |
Pign |
A |
T |
1: 105,449,798 (GRCm39) |
N909K |
possibly damaging |
Het |
Prex1 |
A |
G |
2: 166,414,883 (GRCm39) |
V304A |
probably benign |
Het |
Racgap1 |
G |
A |
15: 99,526,643 (GRCm39) |
R307W |
probably damaging |
Het |
Rap1gds1 |
C |
A |
3: 138,661,181 (GRCm39) |
E399* |
probably null |
Het |
Rwdd4a |
G |
A |
8: 47,995,837 (GRCm39) |
|
probably null |
Het |
Sanbr |
A |
C |
11: 23,570,354 (GRCm39) |
M182R |
probably benign |
Het |
Scp2 |
T |
C |
4: 107,928,488 (GRCm39) |
T401A |
probably benign |
Het |
Sdha |
A |
G |
13: 74,475,452 (GRCm39) |
F526S |
probably damaging |
Het |
Shroom1 |
T |
A |
11: 53,354,872 (GRCm39) |
L264Q |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,907,590 (GRCm39) |
T1466A |
probably benign |
Het |
Trpm2 |
C |
T |
10: 77,801,852 (GRCm39) |
C71Y |
probably damaging |
Het |
Ugt2b34 |
G |
A |
5: 87,052,246 (GRCm39) |
S250L |
probably benign |
Het |
Vmn2r88 |
A |
G |
14: 51,650,638 (GRCm39) |
D117G |
probably benign |
Het |
Wdr73 |
A |
T |
7: 80,542,173 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Cryzl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00808:Cryzl2
|
APN |
1 |
157,298,246 (GRCm39) |
missense |
probably benign |
|
IGL01481:Cryzl2
|
APN |
1 |
157,298,309 (GRCm39) |
splice site |
probably null |
|
IGL01878:Cryzl2
|
APN |
1 |
157,299,970 (GRCm39) |
missense |
possibly damaging |
0.70 |
IGL02596:Cryzl2
|
APN |
1 |
157,292,539 (GRCm39) |
missense |
probably damaging |
1.00 |
G5030:Cryzl2
|
UTSW |
1 |
157,292,580 (GRCm39) |
nonsense |
probably null |
|
R0399:Cryzl2
|
UTSW |
1 |
157,289,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R0402:Cryzl2
|
UTSW |
1 |
157,292,014 (GRCm39) |
missense |
probably benign |
0.00 |
R0518:Cryzl2
|
UTSW |
1 |
157,292,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R0761:Cryzl2
|
UTSW |
1 |
157,293,294 (GRCm39) |
missense |
probably benign |
0.15 |
R1104:Cryzl2
|
UTSW |
1 |
157,298,174 (GRCm39) |
splice site |
probably benign |
|
R1471:Cryzl2
|
UTSW |
1 |
157,298,291 (GRCm39) |
missense |
probably benign |
0.01 |
R1773:Cryzl2
|
UTSW |
1 |
157,298,292 (GRCm39) |
missense |
probably benign |
0.01 |
R4752:Cryzl2
|
UTSW |
1 |
157,286,219 (GRCm39) |
splice site |
probably null |
|
R5389:Cryzl2
|
UTSW |
1 |
157,289,546 (GRCm39) |
nonsense |
probably null |
|
R5778:Cryzl2
|
UTSW |
1 |
157,298,357 (GRCm39) |
missense |
probably benign |
0.00 |
R6928:Cryzl2
|
UTSW |
1 |
157,298,357 (GRCm39) |
missense |
probably benign |
0.00 |
R7037:Cryzl2
|
UTSW |
1 |
157,298,318 (GRCm39) |
missense |
probably damaging |
0.99 |
R7099:Cryzl2
|
UTSW |
1 |
157,316,154 (GRCm39) |
critical splice donor site |
probably benign |
|
R7911:Cryzl2
|
UTSW |
1 |
157,299,925 (GRCm39) |
missense |
probably benign |
|
R8854:Cryzl2
|
UTSW |
1 |
157,286,370 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9618:Cryzl2
|
UTSW |
1 |
157,289,578 (GRCm39) |
missense |
probably benign |
0.00 |
R9667:Cryzl2
|
UTSW |
1 |
157,316,038 (GRCm39) |
missense |
probably benign |
|
Z1088:Cryzl2
|
UTSW |
1 |
157,293,359 (GRCm39) |
missense |
probably benign |
0.22 |
|
Predicted Primers |
PCR Primer
(F):5'- GGTAGCCTGCTAGCTATTGAGAG -3'
(R):5'- GGCTGTCAAGAAAGTTAGCG -3'
Sequencing Primer
(F):5'- CCTGCTAGCTATTGAGAGAATCGC -3'
(R):5'- GCTGTCAAGAAAGTTAGCGTTTAAAG -3'
|
Posted On |
2016-06-15 |