Incidental Mutation 'IGL03167:Pira2'
| ID |
411667 |
| 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: 0.063)
|
| Stock # |
IGL03167
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
3839811-3848050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 3843919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 618
(S618T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108615]
[ENSMUST00000119469]
|
| AlphaFold |
F8VQ94 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108615
AA Change: S618T
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942
AA Change: S618T
| 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: S618T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942
AA Change: S618T
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
A |
C |
6: 34,834,594 (GRCm39) |
K921T |
possibly damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,679,894 (GRCm39) |
|
probably benign |
Het |
| Ankrd22 |
A |
T |
19: 34,143,174 (GRCm39) |
M1K |
probably null |
Het |
| Ano5 |
G |
A |
7: 51,235,259 (GRCm39) |
V698I |
probably damaging |
Het |
| Ccnh |
A |
G |
13: 85,345,685 (GRCm39) |
|
probably benign |
Het |
| Col15a1 |
A |
T |
4: 47,282,635 (GRCm39) |
I771F |
probably damaging |
Het |
| Dmrt1 |
T |
C |
19: 25,523,257 (GRCm39) |
S203P |
possibly damaging |
Het |
| Exoc5 |
A |
T |
14: 49,288,802 (GRCm39) |
V82E |
probably damaging |
Het |
| Ffar3 |
A |
T |
7: 30,554,780 (GRCm39) |
V180E |
probably damaging |
Het |
| Fhad1 |
T |
C |
4: 141,700,108 (GRCm39) |
S381G |
probably benign |
Het |
| Foxf1 |
C |
A |
8: 121,811,647 (GRCm39) |
Y170* |
probably null |
Het |
| Glis1 |
A |
G |
4: 107,293,102 (GRCm39) |
D75G |
possibly damaging |
Het |
| Gpr151 |
T |
C |
18: 42,711,439 (GRCm39) |
H413R |
probably benign |
Het |
| Gtf3c1 |
T |
C |
7: 125,269,752 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 34,976,330 (GRCm39) |
F711I |
probably damaging |
Het |
| Il1rapl1 |
A |
G |
X: 85,790,867 (GRCm39) |
I691T |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,821,406 (GRCm39) |
Y579C |
probably benign |
Het |
| Lingo3 |
A |
G |
10: 80,671,178 (GRCm39) |
S251P |
probably damaging |
Het |
| Mbl1 |
T |
A |
14: 40,880,543 (GRCm39) |
S144T |
probably benign |
Het |
| Musk |
A |
T |
4: 58,366,821 (GRCm39) |
R462W |
possibly damaging |
Het |
| Mynn |
T |
C |
3: 30,663,191 (GRCm39) |
L373P |
probably damaging |
Het |
| Myoz2 |
G |
A |
3: 122,800,139 (GRCm39) |
R230* |
probably null |
Het |
| Nup35 |
A |
G |
2: 80,488,660 (GRCm39) |
|
probably benign |
Het |
| Or14a259 |
C |
T |
7: 86,013,128 (GRCm39) |
C139Y |
probably damaging |
Het |
| Or2d4 |
A |
G |
7: 106,543,852 (GRCm39) |
S119P |
probably damaging |
Het |
| Or5ak4 |
C |
T |
2: 85,161,664 (GRCm39) |
D193N |
probably benign |
Het |
| Or5m3 |
T |
A |
2: 85,838,511 (GRCm39) |
Y130* |
probably null |
Het |
| Plch1 |
G |
A |
3: 63,630,165 (GRCm39) |
|
probably benign |
Het |
| Pparg |
T |
G |
6: 115,450,188 (GRCm39) |
F396V |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,767,108 (GRCm39) |
E441G |
probably damaging |
Het |
| Serpinb2 |
T |
A |
1: 107,450,485 (GRCm39) |
C161S |
probably benign |
Het |
| Skint5 |
C |
T |
4: 113,751,047 (GRCm39) |
E333K |
unknown |
Het |
| Slc22a8 |
C |
T |
19: 8,587,322 (GRCm39) |
P461S |
probably damaging |
Het |
| Slc38a6 |
C |
T |
12: 73,397,311 (GRCm39) |
Q318* |
probably null |
Het |
| Sycp2 |
T |
C |
2: 178,021,291 (GRCm39) |
K512E |
probably damaging |
Het |
| Tas2r103 |
T |
A |
6: 133,013,623 (GRCm39) |
N148Y |
probably damaging |
Het |
| Tcf7l1 |
A |
G |
6: 72,609,979 (GRCm39) |
M257T |
possibly damaging |
Het |
| Tert |
T |
A |
13: 73,788,119 (GRCm39) |
N792K |
probably damaging |
Het |
| Thada |
A |
T |
17: 84,766,277 (GRCm39) |
V43E |
probably damaging |
Het |
| Trabd2b |
T |
C |
4: 114,467,195 (GRCm39) |
S475P |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,681 (GRCm39) |
V242A |
probably damaging |
Het |
| Ypel3 |
A |
T |
7: 126,379,247 (GRCm39) |
I107F |
probably damaging |
Het |
| Zfp352 |
T |
C |
4: 90,112,939 (GRCm39) |
S360P |
probably 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 |
|
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 |
|
|
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