Incidental Mutation 'R9440:Klra5'
ID |
713591 |
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 |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9440 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
129874715-129890188 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 129883686 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Leucine
at position 147
(W147L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000014683
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014683]
[ENSMUST00000118060]
[ENSMUST00000169901]
|
AlphaFold |
Q60652 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000014683
AA Change: W147L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000014683 Gene: ENSMUSG00000030173 AA Change: W147L
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 |
possibly damaging
Transcript: ENSMUST00000118060
AA Change: W147L
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112795 Gene: ENSMUSG00000030173 AA Change: W147L
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 |
|
SMART Domains |
Protein: ENSMUSP00000126290 Gene: ENSMUSG00000030173 AA Change: W57L
Domain | Start | End | E-Value | Type |
CLECT
|
53 |
168 |
3.66e-18 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
A |
17: 24,499,452 (GRCm39) |
T1359M |
probably benign |
Het |
Acacb |
T |
A |
5: 114,384,085 (GRCm39) |
C2205S |
possibly damaging |
Het |
Akap3 |
A |
G |
6: 126,841,591 (GRCm39) |
E70G |
probably benign |
Het |
Aldh1a3 |
C |
A |
7: 66,068,992 (GRCm39) |
|
probably null |
Het |
Asb4 |
A |
G |
6: 5,429,817 (GRCm39) |
I352M |
probably benign |
Het |
Bach1 |
C |
G |
16: 87,516,603 (GRCm39) |
S381R |
probably benign |
Het |
BC034090 |
A |
G |
1: 155,101,961 (GRCm39) |
L101P |
probably benign |
Het |
Bms1 |
A |
T |
6: 118,382,217 (GRCm39) |
D440E |
probably benign |
Het |
Bpifb6 |
A |
T |
2: 153,747,914 (GRCm39) |
D191V |
probably benign |
Het |
Cfap298 |
A |
T |
16: 90,726,832 (GRCm39) |
V116E |
probably benign |
Het |
Cfd |
T |
C |
10: 79,726,816 (GRCm39) |
|
probably null |
Het |
Cnot3 |
G |
A |
7: 3,656,560 (GRCm39) |
E252K |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,707,068 (GRCm39) |
D2622G |
unknown |
Het |
Crybg2 |
T |
C |
4: 133,801,602 (GRCm39) |
S612P |
probably benign |
Het |
Cyp4b1 |
T |
C |
4: 115,493,581 (GRCm39) |
K167R |
probably damaging |
Het |
Gbp3 |
T |
C |
3: 142,272,335 (GRCm39) |
V279A |
possibly damaging |
Het |
Gipc2 |
T |
C |
3: 151,833,706 (GRCm39) |
T192A |
possibly damaging |
Het |
Gm3285 |
T |
C |
10: 77,697,911 (GRCm39) |
V20A |
|
Het |
Gorasp2 |
T |
C |
2: 70,541,469 (GRCm39) |
|
probably null |
Het |
Gpr179 |
A |
G |
11: 97,229,315 (GRCm39) |
S947P |
probably benign |
Het |
Lrch4 |
G |
A |
5: 137,636,051 (GRCm39) |
R368Q |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,455,600 (GRCm39) |
V876A |
probably benign |
Het |
Marf1 |
A |
C |
16: 13,938,196 (GRCm39) |
D1433E |
probably benign |
Het |
Mcm4 |
A |
T |
16: 15,453,175 (GRCm39) |
C171* |
probably null |
Het |
Micall1 |
C |
T |
15: 79,011,159 (GRCm39) |
P510S |
|
Het |
Morc3 |
A |
G |
16: 93,649,975 (GRCm39) |
|
probably null |
Het |
Mrpl28 |
G |
T |
17: 26,345,266 (GRCm39) |
V229F |
possibly damaging |
Het |
Mrps33 |
A |
T |
6: 39,782,364 (GRCm39) |
Y52* |
probably null |
Het |
Mybphl |
T |
C |
3: 108,282,202 (GRCm39) |
I144T |
probably benign |
Het |
Myom1 |
A |
G |
17: 71,433,329 (GRCm39) |
M1657V |
probably benign |
Het |
Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
Or5p67 |
A |
G |
7: 107,922,037 (GRCm39) |
I282T |
probably benign |
Het |
Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Plxna1 |
T |
C |
6: 89,318,912 (GRCm39) |
K637R |
probably benign |
Het |
Prob1 |
G |
T |
18: 35,786,218 (GRCm39) |
L679I |
possibly damaging |
Het |
Sgms2 |
C |
A |
3: 131,118,718 (GRCm39) |
C255F |
probably damaging |
Het |
Slc17a9 |
T |
C |
2: 180,383,090 (GRCm39) |
C399R |
probably benign |
Het |
Smc4 |
T |
A |
3: 68,915,455 (GRCm39) |
|
probably null |
Het |
St14 |
A |
G |
9: 31,007,845 (GRCm39) |
L578P |
probably damaging |
Het |
Tcaf3 |
A |
T |
6: 42,573,906 (GRCm39) |
L102* |
probably null |
Het |
Tex15 |
A |
G |
8: 34,072,273 (GRCm39) |
T2607A |
possibly damaging |
Het |
Trav15-2-dv6-2 |
T |
A |
14: 53,886,932 (GRCm39) |
|
probably benign |
Het |
Trip4 |
T |
C |
9: 65,760,234 (GRCm39) |
|
probably null |
Het |
Ttf1 |
A |
G |
2: 28,955,709 (GRCm39) |
I358V |
probably benign |
Het |
Uroc1 |
C |
A |
6: 90,322,353 (GRCm39) |
S292R |
possibly damaging |
Het |
Vmn1r5 |
T |
C |
6: 56,962,415 (GRCm39) |
I30T |
possibly damaging |
Het |
Vps33a |
A |
T |
5: 123,703,047 (GRCm39) |
I192N |
probably damaging |
Het |
Vps50 |
A |
G |
6: 3,516,724 (GRCm39) |
I69V |
probably benign |
Het |
Wdr97 |
T |
C |
15: 76,245,064 (GRCm39) |
S1176P |
|
Het |
Xirp1 |
G |
A |
9: 119,847,203 (GRCm39) |
T560M |
probably damaging |
Het |
Zfp512 |
A |
T |
5: 31,628,359 (GRCm39) |
T266S |
possibly damaging |
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 |
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 |
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'- TTCAGGTTTAGAGCCAGAGTC -3'
(R):5'- TGATTCATCCATGATTGACACAGG -3'
Sequencing Primer
(F):5'- CCAGAGTCTAAGAAAATAAGGGGC -3'
(R):5'- CATGAGTATGCAGGGGTGTTTG -3'
|
Posted On |
2022-06-15 |