Incidental Mutation 'R8017:Pira2'
ID |
628808 |
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: 99.9%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 95.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110065P20Rik |
G |
T |
4: 124,744,469 (GRCm39) |
A51E |
unknown |
Het |
A2ml1 |
C |
T |
6: 128,558,410 (GRCm39) |
|
probably null |
Het |
Amotl2 |
C |
T |
9: 102,600,968 (GRCm39) |
T345I |
probably benign |
Het |
Bnc2 |
A |
G |
4: 84,329,662 (GRCm39) |
L118P |
|
Het |
Ccdc18 |
T |
A |
5: 108,376,511 (GRCm39) |
Y1317* |
probably null |
Het |
Ccdc93 |
C |
T |
1: 121,375,993 (GRCm39) |
T168M |
probably damaging |
Het |
Cd109 |
G |
T |
9: 78,614,828 (GRCm39) |
D1292Y |
possibly damaging |
Het |
Cdh24 |
G |
T |
14: 54,876,089 (GRCm39) |
N184K |
probably damaging |
Het |
Clpsl2 |
G |
A |
17: 28,769,702 (GRCm39) |
G55R |
probably damaging |
Het |
Cspg4b |
T |
A |
13: 113,456,157 (GRCm39) |
S734R |
|
Het |
Efemp2 |
T |
A |
19: 5,527,708 (GRCm39) |
C181* |
probably null |
Het |
Eftud2 |
A |
G |
11: 102,734,174 (GRCm39) |
|
probably null |
Het |
Elp2 |
G |
A |
18: 24,739,920 (GRCm39) |
V49M |
possibly damaging |
Het |
Evl |
C |
T |
12: 108,647,783 (GRCm39) |
R295* |
probably null |
Het |
Exph5 |
G |
A |
9: 53,284,752 (GRCm39) |
C611Y |
probably benign |
Het |
Gm9376 |
T |
G |
14: 118,504,951 (GRCm39) |
Y128D |
probably damaging |
Het |
Gsdmc2 |
T |
A |
15: 63,698,762 (GRCm39) |
N278I |
probably benign |
Het |
Hace1 |
C |
T |
10: 45,514,478 (GRCm39) |
T199M |
probably damaging |
Het |
Hivep1 |
T |
C |
13: 42,321,098 (GRCm39) |
V44A |
|
Het |
Homez |
A |
C |
14: 55,095,689 (GRCm39) |
D6E |
probably benign |
Het |
Ighv5-12 |
A |
T |
12: 113,665,792 (GRCm39) |
M102K |
probably damaging |
Het |
Jup |
T |
C |
11: 100,265,023 (GRCm39) |
T643A |
probably benign |
Het |
Krt4 |
T |
A |
15: 101,828,722 (GRCm39) |
I381F |
probably damaging |
Het |
Krt6a |
A |
G |
15: 101,602,304 (GRCm39) |
V127A |
probably damaging |
Het |
Ldlrad4 |
G |
T |
18: 68,368,740 (GRCm39) |
A66S |
possibly damaging |
Het |
Mtfr2 |
A |
T |
10: 20,229,900 (GRCm39) |
N153Y |
probably damaging |
Het |
Npas3 |
G |
A |
12: 54,091,462 (GRCm39) |
V339I |
probably damaging |
Het |
Nsun2 |
C |
T |
13: 69,775,764 (GRCm39) |
R438C |
probably damaging |
Het |
Oga |
A |
T |
19: 45,762,107 (GRCm39) |
W249R |
probably damaging |
Het |
Or4c1 |
T |
A |
2: 89,133,595 (GRCm39) |
I114F |
possibly damaging |
Het |
Or4k47 |
A |
C |
2: 111,452,412 (GRCm39) |
D2E |
probably benign |
Het |
Or5w16 |
T |
A |
2: 87,577,392 (GRCm39) |
M284K |
probably damaging |
Het |
Pdzd2 |
T |
C |
15: 12,373,122 (GRCm39) |
R2338G |
probably damaging |
Het |
Pgm1 |
A |
G |
4: 99,843,875 (GRCm39) |
M553V |
probably benign |
Het |
Ppp2r5e |
A |
G |
12: 75,511,703 (GRCm39) |
I340T |
probably damaging |
Het |
Qprt |
C |
A |
7: 126,707,996 (GRCm39) |
R145L |
probably damaging |
Het |
Sertad4 |
T |
C |
1: 192,528,829 (GRCm39) |
D329G |
probably benign |
Het |
Setd2 |
C |
T |
9: 110,431,255 (GRCm39) |
T583M |
|
Het |
Slc12a7 |
T |
C |
13: 73,947,839 (GRCm39) |
I652T |
probably damaging |
Het |
Slc27a5 |
T |
C |
7: 12,723,329 (GRCm39) |
D539G |
probably damaging |
Het |
Slc36a2 |
A |
G |
11: 55,055,095 (GRCm39) |
I320T |
probably benign |
Het |
Slc6a20a |
A |
G |
9: 123,466,917 (GRCm39) |
Y524H |
probably damaging |
Het |
Slc6a20a |
T |
A |
9: 123,493,639 (GRCm39) |
S81C |
probably damaging |
Het |
St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
Stag3 |
T |
C |
5: 138,299,465 (GRCm39) |
M828T |
possibly damaging |
Het |
Stk36 |
T |
C |
1: 74,651,925 (GRCm39) |
V406A |
probably benign |
Het |
Svep1 |
G |
T |
4: 58,146,637 (GRCm39) |
P335Q |
probably damaging |
Het |
Svs5 |
T |
A |
2: 164,175,341 (GRCm39) |
S64R |
possibly damaging |
Het |
Taf2 |
A |
G |
15: 54,928,013 (GRCm39) |
V130A |
possibly damaging |
Het |
Tbrg4 |
C |
T |
11: 6,568,517 (GRCm39) |
V421M |
probably damaging |
Het |
Tbx4 |
G |
T |
11: 85,804,986 (GRCm39) |
K358N |
probably damaging |
Het |
Tenm4 |
A |
T |
7: 96,353,248 (GRCm39) |
T384S |
probably damaging |
Het |
Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
Zfp574 |
T |
A |
7: 24,780,095 (GRCm39) |
C372* |
probably null |
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 |
2020-06-30 |