Incidental Mutation 'IGL03171:Pira2'
| ID |
411840 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pira2
|
| Ensembl Gene |
ENSMUSG00000089942 |
| Gene Name |
paired-Ig-like receptor A2 |
| Synonyms |
6M23 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.058)
|
| Stock # |
IGL03171
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3839811-3848050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 3845604 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 260
(E260V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108615]
[ENSMUST00000119469]
|
| AlphaFold |
F8VQ94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108615
AA Change: E260V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942
AA Change: E260V
| 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: E260V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942
AA Change: E260V
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
T |
A |
6: 83,139,377 (GRCm39) |
F434Y |
possibly damaging |
Het |
| Adam19 |
G |
T |
11: 46,029,681 (GRCm39) |
A709S |
probably damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,401,292 (GRCm39) |
L42Q |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,071,508 (GRCm39) |
N1264S |
possibly damaging |
Het |
| Dnah9 |
T |
G |
11: 65,872,067 (GRCm39) |
K2721T |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,018,622 (GRCm39) |
A575T |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,594,263 (GRCm39) |
E341G |
probably damaging |
Het |
| Ezh2 |
G |
A |
6: 47,517,715 (GRCm39) |
R574* |
probably null |
Het |
| Fam169a |
G |
T |
13: 97,246,522 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,304,274 (GRCm39) |
Y555H |
probably damaging |
Het |
| Gm17175 |
A |
C |
14: 51,809,065 (GRCm39) |
S100R |
probably damaging |
Het |
| Gm527 |
T |
C |
12: 64,967,931 (GRCm39) |
Y118H |
probably damaging |
Het |
| H2-M10.4 |
G |
T |
17: 36,772,142 (GRCm39) |
T202N |
probably damaging |
Het |
| Ift70a1 |
C |
T |
2: 75,810,851 (GRCm39) |
A411T |
probably benign |
Het |
| Igf1 |
A |
T |
10: 87,700,683 (GRCm39) |
T36S |
probably damaging |
Het |
| Ints8 |
C |
T |
4: 11,231,702 (GRCm39) |
V428I |
probably benign |
Het |
| Itga6 |
G |
A |
2: 71,671,673 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,061,277 (GRCm39) |
E1210G |
possibly damaging |
Het |
| Kdm2a |
A |
T |
19: 4,406,792 (GRCm39) |
V134E |
probably damaging |
Het |
| Limch1 |
C |
A |
5: 67,191,537 (GRCm39) |
N947K |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,562,272 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,376 (GRCm39) |
|
probably benign |
Het |
| Ogg1 |
A |
G |
6: 113,310,375 (GRCm39) |
I274V |
possibly damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,197 (GRCm39) |
I145K |
probably benign |
Het |
| Or2r11 |
G |
A |
6: 42,437,464 (GRCm39) |
T163I |
possibly damaging |
Het |
| Pacrg |
A |
G |
17: 10,795,462 (GRCm39) |
V166A |
possibly damaging |
Het |
| Prickle3 |
T |
C |
X: 7,531,526 (GRCm39) |
C277R |
probably damaging |
Het |
| Psen1 |
A |
G |
12: 83,761,638 (GRCm39) |
T147A |
probably damaging |
Het |
| Pxk |
C |
T |
14: 8,151,014 (GRCm38) |
|
probably benign |
Het |
| Scn11a |
G |
A |
9: 119,648,913 (GRCm39) |
P50L |
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,236,418 (GRCm39) |
V281L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,166 (GRCm39) |
I551T |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,150,539 (GRCm39) |
I281N |
probably benign |
Het |
| Spata31e4 |
T |
A |
13: 50,856,388 (GRCm39) |
S675R |
probably benign |
Het |
| Spopfm1 |
C |
A |
3: 94,173,762 (GRCm39) |
H257N |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,874,336 (GRCm39) |
K209E |
probably benign |
Het |
| Trip6 |
C |
T |
5: 137,311,146 (GRCm39) |
R190Q |
probably benign |
Het |
| Ubqln1 |
T |
A |
13: 58,328,672 (GRCm39) |
E426D |
probably damaging |
Het |
| Zfp607b |
C |
A |
7: 27,393,020 (GRCm39) |
N49K |
possibly damaging |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation