Incidental Mutation 'R0314:Klra5'
| ID |
25372 |
| 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 |
038524-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0314 (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 129880553 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 115
(Y115C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126290
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014683]
[ENSMUST00000118060]
[ENSMUST00000169901]
|
| AlphaFold |
Q60652 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000014683
AA Change: Y205C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000014683
Gene: ENSMUSG00000030173
AA Change: Y205C
| 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 damaging
Transcript: ENSMUST00000118060
AA Change: Y205C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112795
Gene: ENSMUSG00000030173
AA Change: Y205C
| 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 damaging
Transcript: ENSMUST00000169901
AA Change: Y115C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126290
Gene: ENSMUSG00000030173
AA Change: Y115C
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
53 |
168 |
3.66e-18 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.7%
|
| Validation Efficiency |
100% (41/41) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arih2 |
T |
C |
9: 108,485,878 (GRCm39) |
N345D |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,514,095 (GRCm39) |
S298L |
possibly damaging |
Het |
| Cacna1e |
A |
G |
1: 154,317,997 (GRCm39) |
Y1462H |
probably damaging |
Het |
| Car9 |
T |
C |
4: 43,509,212 (GRCm39) |
|
probably null |
Het |
| Cenpc1 |
A |
T |
5: 86,185,230 (GRCm39) |
M427K |
probably benign |
Het |
| Chl1 |
T |
A |
6: 103,624,262 (GRCm39) |
C57S |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,397,342 (GRCm39) |
Y77C |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,919,865 (GRCm39) |
K1187E |
possibly damaging |
Het |
| Fkbpl |
C |
T |
17: 34,865,026 (GRCm39) |
H265Y |
possibly damaging |
Het |
| Fmo1 |
T |
G |
1: 162,687,031 (GRCm39) |
E32A |
probably damaging |
Het |
| Fnip2 |
G |
A |
3: 79,388,496 (GRCm39) |
T715I |
probably damaging |
Het |
| Fzd6 |
T |
A |
15: 38,889,128 (GRCm39) |
I82K |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,252,163 (GRCm39) |
S138P |
probably damaging |
Het |
| Lgr4 |
T |
C |
2: 109,821,438 (GRCm39) |
|
probably benign |
Het |
| Limd1 |
T |
G |
9: 123,345,892 (GRCm39) |
I557S |
probably benign |
Het |
| Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
| Neb |
A |
T |
2: 52,133,343 (GRCm39) |
D3398E |
probably benign |
Het |
| Nup155 |
T |
C |
15: 8,176,736 (GRCm39) |
S1005P |
probably benign |
Het |
| Or2v2 |
A |
T |
11: 49,004,519 (GRCm39) |
D11E |
possibly damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,388 (GRCm39) |
D72G |
probably damaging |
Het |
| Pebp4 |
G |
T |
14: 70,297,103 (GRCm39) |
S214I |
possibly damaging |
Het |
| Pex26 |
T |
C |
6: 121,161,443 (GRCm39) |
|
probably null |
Het |
| Rbbp8 |
A |
T |
18: 11,848,875 (GRCm39) |
Q230L |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Robo2 |
G |
A |
16: 73,753,525 (GRCm39) |
T784M |
probably damaging |
Het |
| Slc5a1 |
T |
C |
5: 33,303,995 (GRCm39) |
I270T |
probably benign |
Het |
| Spag4 |
C |
T |
2: 155,909,229 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
T |
C |
9: 36,660,841 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,096,331 (GRCm39) |
E1430K |
possibly damaging |
Het |
| Timd5 |
G |
A |
11: 46,419,364 (GRCm39) |
C60Y |
probably damaging |
Het |
| Uba6 |
A |
T |
5: 86,265,946 (GRCm39) |
V956E |
probably damaging |
Het |
| Ube2j1 |
T |
A |
4: 33,043,991 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
A |
G |
15: 37,997,431 (GRCm39) |
S1741P |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,993,980 (GRCm39) |
T109A |
probably damaging |
Het |
| Vmn2r60 |
T |
C |
7: 41,784,985 (GRCm39) |
|
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,318,388 (GRCm39) |
|
probably benign |
Het |
| Zdhhc20 |
T |
A |
14: 58,094,076 (GRCm39) |
K195N |
probably damaging |
Het |
| Zfp683 |
A |
G |
4: 133,786,052 (GRCm39) |
Y393C |
probably benign |
Het |
| Zzz3 |
T |
C |
3: 152,133,085 (GRCm39) |
S48P |
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 |
|
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 |
|
R5019:Klra5
|
UTSW |
6 |
129,876,352 (GRCm39) |
missense |
probably benign |
|
|
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'- GCAAGAGCTATCAATGGCACATGATAGA -3'
(R):5'- ATCAGAGAATGACATAGTGATGCTGGGA -3'
Sequencing Primer
(F):5'- gcacccgactgttcttcc -3'
(R):5'- ATGCTGGGAACTTTTCCTGC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation