Incidental Mutation 'PIT4260001:Pira2'
| ID |
554498 |
| Institutional Source |
Beutler Lab
|
| 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 # |
PIT4260001 (G1)
|
| Quality Score |
109.008 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3839811-3848050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 3845172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 362
(T362S)
|
| 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: T362S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942
AA Change: T362S
| 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: T362S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942
AA Change: T362S
| 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: 92.7%
- 3x: 90.5%
- 10x: 84.8%
- 20x: 72.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap3 |
A |
T |
18: 38,129,948 (GRCm39) |
L71Q |
probably benign |
Het |
| Atp10a |
A |
T |
7: 58,440,866 (GRCm39) |
K504* |
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,275 (GRCm39) |
T564A |
probably benign |
Het |
| Cep128 |
A |
G |
12: 91,265,808 (GRCm39) |
V268A |
probably benign |
Het |
| Clgn |
T |
C |
8: 84,149,753 (GRCm39) |
M418T |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,558,662 (GRCm39) |
|
probably null |
Het |
| Col4a3 |
A |
T |
1: 82,660,482 (GRCm39) |
E933D |
unknown |
Het |
| Csmd1 |
A |
T |
8: 16,120,327 (GRCm39) |
L1826Q |
probably damaging |
Het |
| Enpp2 |
C |
T |
15: 54,707,774 (GRCm39) |
|
probably null |
Het |
| Ep400 |
G |
A |
5: 110,841,037 (GRCm39) |
R1832* |
probably null |
Het |
| Exoc5 |
T |
C |
14: 49,286,222 (GRCm39) |
K135R |
probably benign |
Het |
| Fam83h |
A |
G |
15: 75,873,746 (GRCm39) |
F1197S |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,939,623 (GRCm39) |
I170V |
probably benign |
Het |
| Gigyf2 |
C |
T |
1: 87,346,828 (GRCm39) |
R610C |
unknown |
Het |
| Gm16440 |
T |
C |
14: 17,575,339 (GRCm39) |
E119G |
probably benign |
Het |
| Gm17669 |
A |
G |
18: 67,695,508 (GRCm39) |
R18G |
probably damaging |
Het |
| Gxylt1 |
A |
G |
15: 93,159,708 (GRCm39) |
S100P |
probably damaging |
Het |
| H3c10 |
C |
A |
13: 21,902,089 (GRCm39) |
S87R |
possibly damaging |
Het |
| Hacd4 |
C |
G |
4: 88,316,342 (GRCm39) |
R259T |
unknown |
Het |
| Hacd4 |
T |
A |
4: 88,316,343 (GRCm39) |
R259* |
probably null |
Het |
| Hivep3 |
T |
C |
4: 119,956,379 (GRCm39) |
L1565P |
probably damaging |
Het |
| Iqsec1 |
T |
A |
6: 90,667,471 (GRCm39) |
D218V |
probably damaging |
Het |
| Matn2 |
C |
T |
15: 34,428,877 (GRCm39) |
T747I |
possibly damaging |
Het |
| Myl6b |
T |
A |
10: 128,332,175 (GRCm39) |
Q97L |
possibly damaging |
Het |
| Or5d18 |
A |
T |
2: 87,865,126 (GRCm39) |
M119K |
probably damaging |
Het |
| Pcdh1 |
A |
G |
18: 38,336,419 (GRCm39) |
V72A |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,293,130 (GRCm39) |
V2830A |
possibly damaging |
Het |
| Plpp1 |
A |
G |
13: 112,993,419 (GRCm39) |
D118G |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,793 (GRCm39) |
S1514P |
possibly damaging |
Het |
| Pou3f2 |
G |
T |
4: 22,487,291 (GRCm39) |
Q281K |
possibly damaging |
Het |
| Prl7a2 |
A |
T |
13: 27,843,259 (GRCm39) |
Y181* |
probably null |
Het |
| Prpf4b |
T |
A |
13: 35,068,274 (GRCm39) |
S368T |
probably benign |
Het |
| Prss45 |
A |
G |
9: 110,667,513 (GRCm39) |
D53G |
probably benign |
Het |
| Ryr2 |
T |
A |
13: 11,609,641 (GRCm39) |
H4395L |
possibly damaging |
Het |
| Spp2 |
G |
T |
1: 88,338,927 (GRCm39) |
A97S |
probably benign |
Het |
| Strn4 |
T |
C |
7: 16,556,434 (GRCm39) |
F99S |
probably damaging |
Het |
| Tcaf2 |
T |
A |
6: 42,619,739 (GRCm39) |
H96L |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Trpm6 |
A |
T |
19: 18,803,166 (GRCm39) |
M870L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,773,569 (GRCm39) |
T2351A |
unknown |
Het |
| Xirp2 |
T |
A |
2: 67,341,941 (GRCm39) |
I1394K |
possibly damaging |
Het |
| Zfc3h1 |
G |
T |
10: 115,226,794 (GRCm39) |
D284Y |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGACTTACCTGAGATGAG -3'
(R):5'- GGAGTCTTCCCTTCCCACAAAG -3'
Sequencing Primer
(F):5'- GTATTTGTTGAAGAGCACTAGGTAC -3'
(R):5'- TTCCCTTCCCACAAAGTATTGCAAG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation