Incidental Mutation 'R2171:Pira2'
| ID |
237482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pira2
|
| Ensembl Gene |
ENSMUSG00000089942 |
| Gene Name |
paired-Ig-like receptor A2 |
| Synonyms |
6M23 |
| MMRRC Submission |
040173-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R2171 (G1)
|
| Quality Score |
199 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3839811-3848050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3847417 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 91
(S91G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000108615]
[ENSMUST00000119469]
|
| AlphaFold |
F8VQ94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108615
AA Change: S91G
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000104255
Gene: ENSMUSG00000089942
AA Change: S91G
| 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: S91G
PolyPhen 2
Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000113857
Gene: ENSMUSG00000089942
AA Change: S91G
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abt1 |
A |
G |
13: 23,606,387 (GRCm39) |
L189P |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,660,362 (GRCm39) |
S377* |
probably null |
Het |
| Adgrv1 |
A |
G |
13: 81,419,037 (GRCm39) |
V5986A |
probably damaging |
Het |
| Arv1 |
T |
G |
8: 125,455,094 (GRCm39) |
C102W |
probably damaging |
Het |
| Asb18 |
T |
C |
1: 89,896,419 (GRCm39) |
H207R |
probably benign |
Het |
| Bach2 |
T |
C |
4: 32,501,662 (GRCm39) |
V13A |
probably damaging |
Het |
| Bccip |
T |
C |
7: 133,320,843 (GRCm39) |
S206P |
probably benign |
Het |
| Cdhr4 |
T |
C |
9: 107,870,117 (GRCm39) |
S41P |
probably benign |
Het |
| Chd7 |
A |
G |
4: 8,752,424 (GRCm39) |
Y307C |
probably damaging |
Het |
| Clec4f |
A |
T |
6: 83,629,846 (GRCm39) |
S237R |
possibly damaging |
Het |
| Cntnap5a |
A |
G |
1: 116,116,132 (GRCm39) |
D538G |
possibly damaging |
Het |
| Col9a2 |
T |
A |
4: 120,902,198 (GRCm39) |
C173* |
probably null |
Het |
| Ctr9 |
T |
A |
7: 110,646,117 (GRCm39) |
M703K |
possibly damaging |
Het |
| Cyp2a12 |
A |
G |
7: 26,729,057 (GRCm39) |
Y83C |
probably damaging |
Het |
| Eef1akmt3 |
A |
C |
10: 126,868,843 (GRCm39) |
D210E |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,971,466 (GRCm39) |
F717L |
probably benign |
Het |
| Gtf3a |
A |
G |
5: 146,892,272 (GRCm39) |
N341S |
probably benign |
Het |
| Hltf |
T |
C |
3: 20,113,245 (GRCm39) |
V6A |
probably damaging |
Het |
| Itga6 |
T |
A |
2: 71,650,358 (GRCm39) |
Y135N |
probably damaging |
Het |
| Krt73 |
T |
C |
15: 101,709,345 (GRCm39) |
Q154R |
possibly damaging |
Het |
| Lce1a1 |
C |
T |
3: 92,554,048 (GRCm39) |
C142Y |
unknown |
Het |
| Lcorl |
A |
T |
5: 45,904,493 (GRCm39) |
I112N |
probably damaging |
Het |
| Ltbp1 |
C |
T |
17: 75,598,312 (GRCm39) |
H916Y |
probably damaging |
Het |
| Lypla2 |
T |
C |
4: 135,697,915 (GRCm39) |
|
probably null |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mmp1a |
T |
A |
9: 7,475,357 (GRCm39) |
D375E |
probably damaging |
Het |
| Nlrp14 |
T |
G |
7: 106,781,709 (GRCm39) |
L302R |
probably damaging |
Het |
| Npy2r |
T |
G |
3: 82,447,708 (GRCm39) |
T243P |
possibly damaging |
Het |
| Or11h4 |
A |
T |
14: 50,973,876 (GRCm39) |
S248T |
probably benign |
Het |
| Or51k2 |
T |
C |
7: 103,595,992 (GRCm39) |
V73A |
probably damaging |
Het |
| Paqr9 |
A |
T |
9: 95,442,931 (GRCm39) |
H307L |
probably damaging |
Het |
| Phc3 |
T |
C |
3: 31,005,078 (GRCm39) |
T172A |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,219,638 (GRCm39) |
T39A |
probably damaging |
Het |
| Pik3c2g |
C |
T |
6: 139,801,012 (GRCm39) |
Q386* |
probably null |
Het |
| Plxna2 |
T |
A |
1: 194,482,925 (GRCm39) |
N1539K |
probably damaging |
Het |
| Poc5 |
C |
T |
13: 96,547,257 (GRCm39) |
H507Y |
probably damaging |
Het |
| Pou2f1 |
A |
T |
1: 165,707,925 (GRCm39) |
|
probably benign |
Het |
| Pthlh |
T |
G |
6: 147,158,694 (GRCm39) |
K89Q |
probably damaging |
Het |
| Rims4 |
A |
T |
2: 163,706,046 (GRCm39) |
|
probably null |
Het |
| Rnf138 |
A |
G |
18: 21,159,143 (GRCm39) |
N188D |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,114,822 (GRCm39) |
D727G |
probably benign |
Het |
| Sc5d |
T |
G |
9: 42,166,682 (GRCm39) |
K286Q |
probably benign |
Het |
| Slc10a5 |
C |
T |
3: 10,400,342 (GRCm39) |
G106D |
possibly damaging |
Het |
| Smg6 |
A |
T |
11: 74,929,472 (GRCm39) |
Q967L |
probably damaging |
Het |
| Spty2d1 |
C |
T |
7: 46,644,361 (GRCm39) |
R636H |
probably damaging |
Het |
| Srms |
A |
T |
2: 180,850,573 (GRCm39) |
Y195* |
probably null |
Het |
| Susd4 |
A |
G |
1: 182,719,759 (GRCm39) |
D458G |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,270,220 (GRCm39) |
R1363G |
probably damaging |
Het |
| Thbs1 |
G |
A |
2: 117,953,060 (GRCm39) |
G890D |
probably damaging |
Het |
| Tpp2 |
T |
C |
1: 43,996,606 (GRCm39) |
V317A |
probably benign |
Het |
| Ttpa |
T |
C |
4: 20,021,357 (GRCm39) |
V175A |
probably damaging |
Het |
| Vps13b |
G |
T |
15: 35,887,343 (GRCm39) |
D3251Y |
probably benign |
Het |
| Vps54 |
A |
G |
11: 21,248,810 (GRCm39) |
D441G |
probably benign |
Het |
| Zfp738 |
A |
T |
13: 67,819,096 (GRCm39) |
Y298* |
probably null |
Het |
| Zfp804a |
G |
A |
2: 82,087,527 (GRCm39) |
C452Y |
possibly damaging |
Het |
| Zxdc |
A |
G |
6: 90,359,461 (GRCm39) |
K698E |
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 |
|
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 |
|
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'- AGGAGTCAGTTAAATGTCCGCAG -3'
(R):5'- TCCTCAGAGTACAGCCAGACTC -3'
Sequencing Primer
(F):5'- TTGGCTCTGAGGTTCCCACAG -3'
(R):5'- AGTACAGCCAGACTCTGTGGTC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation