Incidental Mutation 'R8017:Pira2'
| ID |
656297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pira2
|
| Ensembl Gene |
ENSMUSG00000089942 |
| Gene Name |
paired-Ig-like receptor A2 |
| Synonyms |
6M23 |
| MMRRC Submission |
067457-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R8017 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3839811-3848050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3844696 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Tyrosine
at position 445
(F445Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108615]
[ENSMUST00000119469]
|
| AlphaFold |
F8VQ94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108615
AA Change: F445Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942
AA Change: F445Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
IG
|
34 |
118 |
2.39e-1 |
SMART |
|
IG_like
|
129 |
220 |
1.94e1 |
SMART |
|
IG
|
231 |
315 |
7.77e-1 |
SMART |
|
IG
|
328 |
415 |
3.36e0 |
SMART |
|
IG_like
|
435 |
502 |
3.18e0 |
SMART |
|
IG
|
529 |
618 |
8.59e-3 |
SMART |
|
low complexity region
|
654 |
663 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000119469
AA Change: F445Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942
AA Change: F445Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
17 |
N/A |
INTRINSIC |
|
IG
|
34 |
118 |
2.39e-1 |
SMART |
|
IG_like
|
129 |
220 |
1.94e1 |
SMART |
|
IG
|
231 |
315 |
7.77e-1 |
SMART |
|
IG
|
328 |
415 |
3.36e0 |
SMART |
|
IG_like
|
435 |
502 |
3.18e0 |
SMART |
|
IG
|
529 |
618 |
8.59e-3 |
SMART |
|
low complexity region
|
637 |
646 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
95% (36/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aar2 |
T |
G |
2: 156,397,876 (GRCm39) |
I296S |
probably benign |
Het |
| Acsl5 |
A |
G |
19: 55,257,228 (GRCm39) |
I42V |
probably benign |
Het |
| Adam25 |
T |
A |
8: 41,207,124 (GRCm39) |
M130K |
possibly damaging |
Het |
| Atosb |
A |
T |
4: 43,034,413 (GRCm39) |
F394Y |
probably damaging |
Het |
| Bcl2l2 |
T |
A |
14: 55,121,840 (GRCm39) |
M1K |
probably null |
Het |
| Cdh16 |
T |
C |
8: 105,342,899 (GRCm39) |
N724S |
probably damaging |
Het |
| Cfi |
T |
C |
3: 129,648,748 (GRCm39) |
S211P |
probably benign |
Het |
| Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
| Crybg2 |
T |
A |
4: 133,800,484 (GRCm39) |
V239E |
possibly damaging |
Het |
| Dcn |
G |
A |
10: 97,319,397 (GRCm39) |
R58Q |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,877,949 (GRCm39) |
N2678S |
probably benign |
Het |
| Dnai7 |
A |
G |
6: 145,140,283 (GRCm39) |
S173P |
probably damaging |
Het |
| Fbxo24 |
C |
A |
5: 137,611,073 (GRCm39) |
M572I |
probably benign |
Het |
| Hnrnpul1 |
T |
C |
7: 25,447,889 (GRCm39) |
E145G |
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,658,286 (GRCm39) |
V277A |
probably benign |
Het |
| Idi1 |
G |
A |
13: 8,937,974 (GRCm39) |
S140N |
probably benign |
Het |
| Kank1 |
TGCGA |
T |
19: 25,388,568 (GRCm39) |
|
probably null |
Het |
| Kank1 |
GCGAACG |
GCG |
19: 25,388,569 (GRCm39) |
|
probably null |
Het |
| Kif20b |
T |
C |
19: 34,917,279 (GRCm39) |
V603A |
probably damaging |
Het |
| Klc2 |
T |
C |
19: 5,161,867 (GRCm39) |
K276R |
probably benign |
Het |
| Lmbrd2 |
T |
A |
15: 9,172,317 (GRCm39) |
N370K |
probably benign |
Het |
| Map2k5 |
G |
T |
9: 63,246,403 (GRCm39) |
A108D |
probably damaging |
Het |
| Obox2 |
T |
C |
7: 15,130,974 (GRCm39) |
S69P |
possibly damaging |
Het |
| Or2w2 |
G |
A |
13: 21,758,648 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
A |
C |
2: 89,969,170 (GRCm39) |
F104L |
probably benign |
Het |
| Or4f57 |
G |
A |
2: 111,790,918 (GRCm39) |
P167S |
probably damaging |
Het |
| Pcdhga8 |
A |
G |
18: 37,860,783 (GRCm39) |
E613G |
probably damaging |
Het |
| Rab2a |
T |
C |
4: 8,604,444 (GRCm39) |
|
probably null |
Het |
| Rsph4a |
A |
C |
10: 33,785,455 (GRCm39) |
R455S |
probably damaging |
Het |
| Spata31f1a |
T |
C |
4: 42,850,840 (GRCm39) |
T439A |
probably damaging |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tmem151a |
T |
C |
19: 5,132,588 (GRCm39) |
E206G |
probably damaging |
Het |
| Tmem156 |
C |
T |
5: 65,231,204 (GRCm39) |
C222Y |
probably damaging |
Het |
| Tnfrsf11b |
C |
T |
15: 54,117,598 (GRCm39) |
W219* |
probably null |
Het |
| Ttc36 |
T |
C |
9: 44,710,898 (GRCm39) |
E144G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,597,801 (GRCm39) |
R19704H |
probably damaging |
Het |
| Wdr17 |
A |
C |
8: 55,091,403 (GRCm39) |
I1137S |
possibly damaging |
Het |
| Xxylt1 |
A |
G |
16: 30,826,637 (GRCm39) |
L226P |
probably damaging |
Het |
| Zbtb8b |
G |
A |
4: 129,322,238 (GRCm39) |
R408W |
probably damaging |
Het |
| Zfp268 |
A |
G |
4: 145,349,138 (GRCm39) |
T192A |
probably benign |
Het |
| Zfp873 |
T |
A |
10: 81,896,193 (GRCm39) |
V308E |
probably benign |
Het |
|
| Other mutations in Pira2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01349:Pira2
|
APN |
7 |
3,847,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01810:Pira2
|
APN |
7 |
3,847,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03167:Pira2
|
APN |
7 |
3,843,919 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03171:Pira2
|
APN |
7 |
3,845,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB009:Pira2
|
UTSW |
7 |
3,845,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
BB019:Pira2
|
UTSW |
7 |
3,845,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4260001:Pira2
|
UTSW |
7 |
3,845,173 (GRCm39) |
missense |
probably benign |
|
|
PIT4260001:Pira2
|
UTSW |
7 |
3,845,169 (GRCm39) |
missense |
probably benign |
|
|
PIT4260001:Pira2
|
UTSW |
7 |
3,845,172 (GRCm39) |
missense |
probably benign |
|
|
R0517:Pira2
|
UTSW |
7 |
3,847,196 (GRCm39) |
splice site |
probably benign |
|
|
R1565:Pira2
|
UTSW |
7 |
3,847,548 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Pira2
|
UTSW |
7 |
3,847,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2143:Pira2
|
UTSW |
7 |
3,847,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2144:Pira2
|
UTSW |
7 |
3,847,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2145:Pira2
|
UTSW |
7 |
3,847,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2149:Pira2
|
UTSW |
7 |
3,847,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2171:Pira2
|
UTSW |
7 |
3,847,417 (GRCm39) |
missense |
probably benign |
0.08 |
|
R3118:Pira2
|
UTSW |
7 |
3,844,676 (GRCm39) |
nonsense |
probably null |
|
|
R4658:Pira2
|
UTSW |
7 |
3,843,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5148:Pira2
|
UTSW |
7 |
3,847,592 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5228:Pira2
|
UTSW |
7 |
3,847,373 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5583:Pira2
|
UTSW |
7 |
3,845,545 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5974:Pira2
|
UTSW |
7 |
3,844,576 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6120:Pira2
|
UTSW |
7 |
3,844,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6122:Pira2
|
UTSW |
7 |
3,845,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6392:Pira2
|
UTSW |
7 |
3,846,901 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6658:Pira2
|
UTSW |
7 |
3,845,300 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6790:Pira2
|
UTSW |
7 |
3,845,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6990:Pira2
|
UTSW |
7 |
3,844,067 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7336:Pira2
|
UTSW |
7 |
3,847,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7597:Pira2
|
UTSW |
7 |
3,845,460 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7768:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R7777:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R7861:Pira2
|
UTSW |
7 |
3,847,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7932:Pira2
|
UTSW |
7 |
3,845,435 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7977:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R7984:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R7985:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R7987:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R8017:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R8019:Pira2
|
UTSW |
7 |
3,844,696 (GRCm39) |
missense |
probably benign |
|
|
R8389:Pira2
|
UTSW |
7 |
3,846,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8972:Pira2
|
UTSW |
7 |
3,845,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8998:Pira2
|
UTSW |
7 |
3,845,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9350:Pira2
|
UTSW |
7 |
3,844,030 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9766:Pira2
|
UTSW |
7 |
3,845,517 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
|
| Posted On |
2020-10-20 |
Incidental Mutation