Incidental Mutation 'R5043:Klra2'
| ID |
393299 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Klra2
|
| Ensembl Gene |
ENSMUSG00000030187 |
| Gene Name |
killer cell lectin-like receptor, subfamily A, member 2 |
| Synonyms |
Ly49b |
| MMRRC Submission |
042633-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.051)
|
| Stock # |
R5043 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
131196186-131224325 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 131197135 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 288
(H288L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000086252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032306]
[ENSMUST00000088867]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032306
AA Change: H255L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000032306
Gene: ENSMUSG00000030187
AA Change: H255L
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
137 |
260 |
1.17e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000088867
AA Change: H288L
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000086252
Gene: ENSMUSG00000030187
AA Change: H288L
| Domain | Start | End | E-Value | Type |
|---|
|
CLECT
|
137 |
293 |
6.54e-6 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.4%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: The gene is a member of the large lectin-like type 2 transmembrane receptor family of the natural killer gene complex. The gene is located distantly telomeric to its family's gene cluster on chromosome 6. The gene differs from the other genes in its cluster as its promoter region contains long and short interspersed repetitive elements suggesting a possible rearrangement or gene conversion. It is unknown whether this gene's encoded protein is involved with natural killer cell differentiation as are its other family members. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
A |
5: 144,980,910 (GRCm39) |
Y106* |
probably null |
Het |
| Acsbg3 |
A |
G |
17: 57,192,198 (GRCm39) |
Y587C |
probably damaging |
Het |
| Akap12 |
G |
C |
10: 4,305,047 (GRCm39) |
G619A |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,767,653 (GRCm39) |
K32E |
probably benign |
Het |
| Capg |
T |
A |
6: 72,535,237 (GRCm39) |
Y253* |
probably null |
Het |
| Cntnap3 |
A |
T |
13: 64,942,162 (GRCm39) |
F189L |
probably damaging |
Het |
| Cp |
T |
C |
3: 20,028,081 (GRCm39) |
S496P |
probably benign |
Het |
| Cxcl11 |
T |
C |
5: 92,511,011 (GRCm39) |
|
probably null |
Het |
| Dennd3 |
T |
C |
15: 73,399,785 (GRCm39) |
L217P |
probably benign |
Het |
| Dip2c |
G |
T |
13: 9,601,863 (GRCm39) |
R274L |
possibly damaging |
Het |
| Dnah12 |
C |
T |
14: 26,606,147 (GRCm39) |
S3776L |
probably damaging |
Het |
| Emcn |
A |
G |
3: 137,097,362 (GRCm39) |
T94A |
possibly damaging |
Het |
| Fnip2 |
A |
T |
3: 79,400,174 (GRCm39) |
Y397* |
probably null |
Het |
| Gabrp |
T |
C |
11: 33,518,072 (GRCm39) |
N79D |
probably benign |
Het |
| Glmp |
T |
G |
3: 88,233,983 (GRCm39) |
|
probably benign |
Het |
| Gm5921 |
C |
T |
9: 115,267,087 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6483 |
A |
G |
8: 19,743,686 (GRCm39) |
T104A |
probably benign |
Het |
| Ifi206 |
A |
T |
1: 173,314,284 (GRCm39) |
M52K |
probably damaging |
Het |
| Iqcc |
T |
C |
4: 129,512,070 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
T |
C |
18: 74,771,224 (GRCm39) |
|
probably null |
Het |
| Nisch |
A |
G |
14: 30,898,422 (GRCm39) |
|
probably benign |
Het |
| Nlrp4c |
A |
G |
7: 6,069,824 (GRCm39) |
N575S |
probably benign |
Het |
| Or1n2 |
A |
C |
2: 36,796,977 (GRCm39) |
R6S |
probably benign |
Het |
| Or8b49 |
A |
G |
9: 38,506,137 (GRCm39) |
I207V |
probably damaging |
Het |
| Phlda1 |
T |
A |
10: 111,343,152 (GRCm39) |
L296Q |
unknown |
Het |
| Pramel19 |
T |
C |
4: 101,797,721 (GRCm39) |
F40L |
possibly damaging |
Het |
| Rab36 |
G |
A |
10: 74,886,837 (GRCm39) |
E182K |
probably benign |
Het |
| Rasa3 |
G |
A |
8: 13,620,368 (GRCm39) |
T767M |
possibly damaging |
Het |
| Serpinb11 |
G |
A |
1: 107,297,195 (GRCm39) |
V24M |
probably damaging |
Het |
| Slc7a14 |
T |
G |
3: 31,291,615 (GRCm39) |
N221T |
probably damaging |
Het |
| Smg6 |
T |
C |
11: 74,820,721 (GRCm39) |
S331P |
possibly damaging |
Het |
| Snx1 |
C |
T |
9: 66,004,718 (GRCm39) |
A183T |
probably benign |
Het |
| Srpk2 |
T |
C |
5: 23,729,515 (GRCm39) |
T375A |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,134,672 (GRCm39) |
|
probably null |
Het |
| Topaz1 |
A |
T |
9: 122,577,469 (GRCm39) |
E126D |
probably benign |
Het |
| Ugt2b1 |
C |
G |
5: 87,065,503 (GRCm39) |
C512S |
possibly damaging |
Het |
| Ugt2b37 |
C |
T |
5: 87,399,719 (GRCm39) |
W263* |
probably null |
Het |
| Utp20 |
A |
T |
10: 88,634,608 (GRCm39) |
M750K |
possibly damaging |
Het |
| Yeats2 |
A |
T |
16: 20,027,215 (GRCm39) |
Q822L |
probably damaging |
Het |
| Zfp609 |
T |
C |
9: 65,608,109 (GRCm39) |
Y1257C |
probably damaging |
Het |
|
| Other mutations in Klra2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02271:Klra2
|
APN |
6 |
131,207,180 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02280:Klra2
|
APN |
6 |
131,222,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02503:Klra2
|
APN |
6 |
131,207,057 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL03120:Klra2
|
APN |
6 |
131,197,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4449:Klra2
|
UTSW |
6 |
131,198,809 (GRCm39) |
frame shift |
probably null |
|
|
FR4548:Klra2
|
UTSW |
6 |
131,198,814 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Klra2
|
UTSW |
6 |
131,198,815 (GRCm39) |
frame shift |
probably null |
|
|
R0082:Klra2
|
UTSW |
6 |
131,197,210 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0597:Klra2
|
UTSW |
6 |
131,197,148 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0606:Klra2
|
UTSW |
6 |
131,197,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0636:Klra2
|
UTSW |
6 |
131,197,067 (GRCm39) |
splice site |
probably benign |
|
|
R0800:Klra2
|
UTSW |
6 |
131,207,137 (GRCm39) |
nonsense |
probably null |
|
|
R1645:Klra2
|
UTSW |
6 |
131,220,857 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1655:Klra2
|
UTSW |
6 |
131,197,174 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1950:Klra2
|
UTSW |
6 |
131,207,078 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2088:Klra2
|
UTSW |
6 |
131,219,789 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2402:Klra2
|
UTSW |
6 |
131,220,864 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3776:Klra2
|
UTSW |
6 |
131,219,926 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4131:Klra2
|
UTSW |
6 |
131,205,180 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4570:Klra2
|
UTSW |
6 |
131,220,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Klra2
|
UTSW |
6 |
131,207,120 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4586:Klra2
|
UTSW |
6 |
131,207,120 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4884:Klra2
|
UTSW |
6 |
131,207,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4982:Klra2
|
UTSW |
6 |
131,197,152 (GRCm39) |
missense |
probably benign |
0.25 |
|
R5457:Klra2
|
UTSW |
6 |
131,198,852 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6526:Klra2
|
UTSW |
6 |
131,198,839 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6538:Klra2
|
UTSW |
6 |
131,219,953 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7393:Klra2
|
UTSW |
6 |
131,207,165 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7785:Klra2
|
UTSW |
6 |
131,222,253 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8394:Klra2
|
UTSW |
6 |
131,222,273 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8809:Klra2
|
UTSW |
6 |
131,197,198 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8924:Klra2
|
UTSW |
6 |
131,205,214 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9467:Klra2
|
UTSW |
6 |
131,197,070 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9667:Klra2
|
UTSW |
6 |
131,219,836 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9779:Klra2
|
UTSW |
6 |
131,198,801 (GRCm39) |
missense |
unknown |
|
|
RF020:Klra2
|
UTSW |
6 |
131,198,801 (GRCm39) |
frame shift |
probably null |
|
|
RF059:Klra2
|
UTSW |
6 |
131,198,801 (GRCm39) |
frame shift |
probably null |
|
|
RF064:Klra2
|
UTSW |
6 |
131,198,802 (GRCm39) |
frame shift |
probably null |
|
|
Z1088:Klra2
|
UTSW |
6 |
131,205,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTCCTGCTCTGTTAAGTC -3'
(R):5'- AGTCATCTCTTAGTGATTCTGAAACTG -3'
Sequencing Primer
(F):5'- GCTCTGTTAAGTCTGTTGTCAAAAC -3'
(R):5'- AGCCATGTCATTGGTCCAAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation