Incidental Mutation 'R5019:Klra5'
ID |
389092 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Klra5
|
Ensembl Gene |
ENSMUSG00000030173 |
Gene Name |
killer cell lectin-like receptor, subfamily A, member 5 |
Synonyms |
Ly49e |
MMRRC Submission |
042610-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5019 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
129874715-129890188 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129876352 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 152
(T152A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126290
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014683]
[ENSMUST00000118060]
[ENSMUST00000169901]
|
AlphaFold |
Q60652 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014683
AA Change: T242A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000014683 Gene: ENSMUSG00000030173 AA Change: T242A
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
Blast:CLECT
|
73 |
123 |
4e-9 |
BLAST |
CLECT
|
143 |
258 |
3.66e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118060
AA Change: T242A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000112795 Gene: ENSMUSG00000030173 AA Change: T242A
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
Blast:CLECT
|
73 |
123 |
4e-9 |
BLAST |
CLECT
|
143 |
258 |
3.66e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167079
|
SMART Domains |
Protein: ENSMUSP00000125971 Gene: ENSMUSG00000030173
Domain | Start | End | E-Value | Type |
CLECT
|
53 |
168 |
3.66e-18 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169901
AA Change: T152A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000126290 Gene: ENSMUSG00000030173 AA Change: T152A
Domain | Start | End | E-Value | Type |
CLECT
|
53 |
168 |
3.66e-18 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177871
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
Validation Efficiency |
92% (35/38) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal NK and T cell morphology and function. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
C |
A |
11: 110,056,760 (GRCm39) |
W20L |
probably benign |
Het |
Adamts17 |
T |
A |
7: 66,711,818 (GRCm39) |
Y81* |
probably null |
Het |
Add3 |
A |
G |
19: 53,231,002 (GRCm39) |
E559G |
probably damaging |
Het |
Ahcyl2 |
A |
T |
6: 29,859,738 (GRCm39) |
K6M |
possibly damaging |
Het |
Asb3 |
A |
T |
11: 31,031,415 (GRCm39) |
N345I |
possibly damaging |
Het |
Carm1 |
T |
C |
9: 21,490,807 (GRCm39) |
|
probably null |
Het |
Ip6k2 |
T |
A |
9: 108,674,945 (GRCm39) |
|
probably benign |
Het |
Kdm4c |
T |
C |
4: 74,261,772 (GRCm39) |
L649P |
probably damaging |
Het |
Mars2 |
T |
C |
1: 55,276,468 (GRCm39) |
S24P |
possibly damaging |
Het |
Mfap2 |
A |
T |
4: 140,742,569 (GRCm39) |
T142S |
probably damaging |
Het |
Miga1 |
A |
C |
3: 152,028,098 (GRCm39) |
S144A |
possibly damaging |
Het |
Nalf1 |
A |
G |
8: 9,820,240 (GRCm39) |
V260A |
probably benign |
Het |
Or2l5 |
A |
T |
16: 19,334,285 (GRCm39) |
F34I |
probably damaging |
Het |
Or4d2b |
A |
G |
11: 87,779,801 (GRCm39) |
V307A |
probably benign |
Het |
Pate12 |
C |
A |
9: 36,343,198 (GRCm39) |
Q7K |
probably benign |
Het |
Pcdhgb6 |
A |
G |
18: 37,875,994 (GRCm39) |
D234G |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,764,381 (GRCm39) |
N4285D |
unknown |
Het |
Pex1 |
T |
C |
5: 3,672,331 (GRCm39) |
S725P |
probably damaging |
Het |
Pigg |
A |
G |
5: 108,480,015 (GRCm39) |
Y430C |
probably damaging |
Het |
Plcb2 |
A |
T |
2: 118,542,617 (GRCm39) |
L818Q |
probably benign |
Het |
Psmd5 |
A |
G |
2: 34,755,965 (GRCm39) |
|
probably benign |
Het |
Skint8 |
T |
C |
4: 111,785,845 (GRCm39) |
V97A |
probably damaging |
Het |
Tfap2b |
T |
C |
1: 19,296,666 (GRCm39) |
V185A |
probably benign |
Het |
Trim27 |
T |
C |
13: 21,374,134 (GRCm39) |
F294L |
probably damaging |
Het |
Trp53bp1 |
A |
T |
2: 121,100,800 (GRCm39) |
|
probably null |
Het |
Ttc28 |
T |
A |
5: 111,249,930 (GRCm39) |
H293Q |
possibly damaging |
Het |
Xkr5 |
T |
C |
8: 18,992,126 (GRCm39) |
T88A |
probably benign |
Het |
Xkr6 |
T |
G |
14: 64,056,515 (GRCm39) |
I142S |
unknown |
Het |
Zfp618 |
T |
C |
4: 63,021,789 (GRCm39) |
Y252H |
probably damaging |
Het |
Zfp790 |
C |
T |
7: 29,529,192 (GRCm39) |
H626Y |
probably benign |
Het |
Zfp809 |
A |
G |
9: 22,148,998 (GRCm39) |
D84G |
probably benign |
Het |
|
Other mutations in Klra5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00838:Klra5
|
APN |
6 |
129,888,322 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL00972:Klra5
|
APN |
6 |
129,883,568 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01770:Klra5
|
APN |
6 |
129,883,627 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01978:Klra5
|
APN |
6 |
129,888,393 (GRCm39) |
missense |
probably benign |
0.32 |
IGL01998:Klra5
|
APN |
6 |
129,883,676 (GRCm39) |
nonsense |
probably null |
|
IGL02103:Klra5
|
APN |
6 |
129,888,307 (GRCm39) |
splice site |
probably null |
|
IGL02995:Klra5
|
APN |
6 |
129,883,577 (GRCm39) |
missense |
possibly damaging |
0.46 |
IGL03036:Klra5
|
APN |
6 |
129,885,830 (GRCm39) |
missense |
probably damaging |
0.99 |
R0314:Klra5
|
UTSW |
6 |
129,880,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R0378:Klra5
|
UTSW |
6 |
129,883,577 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0646:Klra5
|
UTSW |
6 |
129,880,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R0731:Klra5
|
UTSW |
6 |
129,885,759 (GRCm39) |
missense |
possibly damaging |
0.88 |
R1552:Klra5
|
UTSW |
6 |
129,886,848 (GRCm39) |
missense |
probably damaging |
0.97 |
R1572:Klra5
|
UTSW |
6 |
129,883,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R1807:Klra5
|
UTSW |
6 |
129,876,383 (GRCm39) |
missense |
probably benign |
0.00 |
R4451:Klra5
|
UTSW |
6 |
129,885,797 (GRCm39) |
nonsense |
probably null |
|
R4619:Klra5
|
UTSW |
6 |
129,885,776 (GRCm39) |
missense |
probably benign |
0.05 |
R4647:Klra5
|
UTSW |
6 |
129,876,339 (GRCm39) |
missense |
probably damaging |
0.99 |
R5364:Klra5
|
UTSW |
6 |
129,876,316 (GRCm39) |
missense |
probably benign |
|
R6724:Klra5
|
UTSW |
6 |
129,883,643 (GRCm39) |
missense |
probably benign |
0.29 |
R6925:Klra5
|
UTSW |
6 |
129,888,420 (GRCm39) |
missense |
probably benign |
0.41 |
R7834:Klra5
|
UTSW |
6 |
129,876,253 (GRCm39) |
critical splice donor site |
probably null |
|
R8855:Klra5
|
UTSW |
6 |
129,880,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R8866:Klra5
|
UTSW |
6 |
129,880,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R9144:Klra5
|
UTSW |
6 |
129,886,911 (GRCm39) |
missense |
probably benign |
0.16 |
R9145:Klra5
|
UTSW |
6 |
129,886,911 (GRCm39) |
missense |
probably benign |
0.16 |
R9148:Klra5
|
UTSW |
6 |
129,886,911 (GRCm39) |
missense |
probably benign |
0.16 |
R9440:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9452:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9453:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9454:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9469:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9471:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9615:Klra5
|
UTSW |
6 |
129,883,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9627:Klra5
|
UTSW |
6 |
129,883,701 (GRCm39) |
missense |
probably benign |
0.03 |
Z1176:Klra5
|
UTSW |
6 |
129,888,415 (GRCm39) |
missense |
not run |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACAGTCCCAATGCTCCTGC -3'
(R):5'- TCCACTGATCAAACACTTGTGAG -3'
Sequencing Primer
(F):5'- CACAGCAGACTATGTTCTGTAATC -3'
(R):5'- CGTGATGAACTTAGGATAAACAGTTC -3'
|
Posted On |
2016-06-06 |