Incidental Mutation 'R6990:Pira2'
ID |
543198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pira2
|
Ensembl Gene |
ENSMUSG00000089942 |
Gene Name |
paired-Ig-like receptor A2 |
Synonyms |
6M23 |
MMRRC Submission |
045096-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R6990 (G1)
|
Quality Score |
186.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3839811-3848050 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3844067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 568
(K568N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000104255
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108615]
[ENSMUST00000119469]
|
AlphaFold |
F8VQ94 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108615
AA Change: K568N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000104255 Gene: ENSMUSG00000089942 AA Change: K568N
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 damaging
Transcript: ENSMUST00000119469
AA Change: K568N
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000113857 Gene: ENSMUSG00000089942 AA Change: K568N
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: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610008E11Rik |
T |
G |
10: 78,902,925 (GRCm39) |
T464P |
probably damaging |
Het |
Abca16 |
A |
G |
7: 120,126,950 (GRCm39) |
I1214V |
probably benign |
Het |
Arap2 |
A |
G |
5: 62,833,860 (GRCm39) |
F869S |
probably damaging |
Het |
Astn2 |
G |
T |
4: 65,910,540 (GRCm39) |
H431N |
possibly damaging |
Het |
Bap1 |
A |
G |
14: 30,977,608 (GRCm39) |
T308A |
probably benign |
Het |
Bcr |
G |
A |
10: 74,966,868 (GRCm39) |
E492K |
possibly damaging |
Het |
Bltp3b |
A |
G |
10: 89,641,979 (GRCm39) |
D1050G |
probably benign |
Het |
Camta1 |
A |
G |
4: 151,229,501 (GRCm39) |
F444L |
probably damaging |
Het |
Chd7 |
A |
T |
4: 8,844,525 (GRCm39) |
T1545S |
probably benign |
Het |
Dnmt1 |
A |
T |
9: 20,827,110 (GRCm39) |
Y877* |
probably null |
Het |
Fam13b |
A |
G |
18: 34,630,500 (GRCm39) |
V86A |
possibly damaging |
Het |
Gm11562 |
T |
A |
11: 99,510,817 (GRCm39) |
R128W |
unknown |
Het |
Krt86 |
A |
G |
15: 101,371,714 (GRCm39) |
I95V |
probably benign |
Het |
Mroh2b |
A |
G |
15: 4,942,284 (GRCm39) |
T349A |
possibly damaging |
Het |
Ms4a7 |
A |
T |
19: 11,310,605 (GRCm39) |
L38Q |
probably damaging |
Het |
Myo1h |
T |
C |
5: 114,468,221 (GRCm39) |
S339P |
probably damaging |
Het |
Nf2 |
T |
C |
11: 4,749,944 (GRCm39) |
I46V |
probably benign |
Het |
Nr1h4 |
T |
C |
10: 89,290,792 (GRCm39) |
D416G |
probably benign |
Het |
Oga |
G |
A |
19: 45,755,915 (GRCm39) |
A576V |
probably benign |
Het |
Or11l3 |
T |
C |
11: 58,516,284 (GRCm39) |
E196G |
probably damaging |
Het |
Or4p18 |
A |
G |
2: 88,232,639 (GRCm39) |
M213T |
probably benign |
Het |
Pde1c |
C |
G |
6: 56,419,020 (GRCm39) |
E87Q |
possibly damaging |
Het |
Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pga5 |
A |
T |
19: 10,646,779 (GRCm39) |
D317E |
probably benign |
Het |
Ppp2cb |
A |
G |
8: 34,109,161 (GRCm39) |
D290G |
probably benign |
Het |
Sall4 |
T |
C |
2: 168,596,990 (GRCm39) |
K617E |
probably damaging |
Het |
Slc7a14 |
G |
A |
3: 31,277,728 (GRCm39) |
P626S |
possibly damaging |
Het |
Speer4b |
A |
T |
5: 27,702,076 (GRCm39) |
L228* |
probably null |
Het |
Spns2 |
T |
C |
11: 72,380,447 (GRCm39) |
T59A |
probably benign |
Het |
Tbc1d5 |
A |
T |
17: 51,275,260 (GRCm39) |
N78K |
probably benign |
Het |
Tmem63a |
T |
C |
1: 180,788,686 (GRCm39) |
V341A |
probably benign |
Het |
Trpt1 |
A |
G |
19: 6,975,683 (GRCm39) |
T146A |
probably benign |
Het |
Tyrp1 |
T |
C |
4: 80,753,674 (GRCm39) |
C122R |
probably damaging |
Het |
Uchl1 |
A |
G |
5: 66,839,818 (GRCm39) |
E120G |
possibly damaging |
Het |
Ucn3 |
C |
T |
13: 3,991,295 (GRCm39) |
R119Q |
possibly damaging |
Het |
Vmn2r2 |
T |
G |
3: 64,024,608 (GRCm39) |
I658L |
probably benign |
Het |
Vmn2r96 |
T |
A |
17: 18,804,082 (GRCm39) |
V444E |
probably benign |
Het |
Wdr54 |
A |
C |
6: 83,132,629 (GRCm39) |
|
probably null |
Het |
Xcr1 |
A |
G |
9: 123,685,300 (GRCm39) |
L154P |
probably benign |
Het |
Zbtb26 |
T |
C |
2: 37,326,557 (GRCm39) |
K160E |
probably benign |
Het |
Zfp157 |
T |
G |
5: 138,454,772 (GRCm39) |
Y323* |
probably null |
Het |
Zfp850 |
A |
T |
7: 27,689,801 (GRCm39) |
F136I |
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 |
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 |
|
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 |
PCR Primer
(F):5'- CCCAGTAAGAGCCCTGATACAG -3'
(R):5'- GGAAGCTAGCCTCTCATCATGC -3'
Sequencing Primer
(F):5'- GAGCCCTGATACAGTGTTAATTG -3'
(R):5'- ATGCCTCTTCTCTTTAGGACAG -3'
|
Posted On |
2018-11-28 |