Incidental Mutation 'R5125:Pira1'
ID |
393496 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pira1
|
Ensembl Gene |
|
Gene Name |
paired-Ig-like receptor A1 |
Synonyms |
Gm15922, PIR-A1, Ly89, 6M21, Gm15922, Pir |
MMRRC Submission |
042713-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R5125 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
3734629-3742888 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 3742396 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 44
(K44*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118068]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000118068
AA Change: K44*
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
Validation Efficiency |
96% (49/51) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abt1 |
G |
T |
13: 23,606,819 (GRCm39) |
A94E |
possibly damaging |
Het |
Carmil2 |
G |
T |
8: 106,423,521 (GRCm39) |
G1207V |
probably damaging |
Het |
Cyp2c66 |
A |
G |
19: 39,159,473 (GRCm39) |
Y308C |
probably damaging |
Het |
Dcc |
A |
G |
18: 71,589,948 (GRCm39) |
F683L |
probably benign |
Het |
Denr |
A |
T |
5: 124,065,144 (GRCm39) |
I166F |
probably damaging |
Het |
Dhx29 |
T |
G |
13: 113,069,134 (GRCm39) |
S155A |
possibly damaging |
Het |
Dsg1b |
G |
A |
18: 20,530,560 (GRCm39) |
G405E |
probably damaging |
Het |
Ei24 |
T |
A |
9: 36,693,742 (GRCm39) |
|
probably benign |
Het |
Exo5 |
A |
T |
4: 120,778,734 (GRCm39) |
|
probably null |
Het |
Gm7356 |
T |
C |
17: 14,221,576 (GRCm39) |
D151G |
probably damaging |
Het |
Grin1 |
T |
C |
2: 25,186,839 (GRCm39) |
|
probably benign |
Het |
Grin2b |
C |
T |
6: 135,900,297 (GRCm39) |
V195M |
possibly damaging |
Het |
Hephl1 |
T |
A |
9: 14,997,468 (GRCm39) |
K399N |
probably damaging |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,489,379 (GRCm39) |
V4520A |
probably damaging |
Het |
Lair1 |
G |
A |
7: 4,013,488 (GRCm39) |
T82I |
possibly damaging |
Het |
Lmx1a |
C |
T |
1: 167,658,256 (GRCm39) |
S213L |
possibly damaging |
Het |
Ly6g6d |
A |
G |
17: 35,293,418 (GRCm39) |
I8T |
possibly damaging |
Het |
Mcm4 |
T |
A |
16: 15,453,167 (GRCm39) |
D174V |
probably benign |
Het |
Mcph1 |
T |
A |
8: 18,657,342 (GRCm39) |
D60E |
probably damaging |
Het |
Med12l |
G |
A |
3: 59,174,635 (GRCm39) |
G1851D |
possibly damaging |
Het |
Or13c7b |
T |
A |
4: 43,820,480 (GRCm39) |
I294F |
probably benign |
Het |
Or7e174 |
T |
A |
9: 20,012,488 (GRCm39) |
C144* |
probably null |
Het |
P2rx2 |
G |
A |
5: 110,490,517 (GRCm39) |
T66I |
possibly damaging |
Het |
Pcdh15 |
A |
G |
10: 74,419,912 (GRCm39) |
E1197G |
probably damaging |
Het |
Ppwd1 |
A |
T |
13: 104,356,943 (GRCm39) |
S191T |
probably benign |
Het |
Rbm39 |
A |
T |
2: 156,004,785 (GRCm39) |
M184K |
probably damaging |
Het |
Reln |
A |
G |
5: 22,118,239 (GRCm39) |
V2935A |
possibly damaging |
Het |
Robo4 |
T |
C |
9: 37,319,256 (GRCm39) |
W535R |
probably damaging |
Het |
Rsf1 |
A |
G |
7: 97,311,079 (GRCm39) |
D603G |
possibly damaging |
Het |
Sh3rf3 |
C |
G |
10: 58,967,012 (GRCm39) |
P785A |
probably benign |
Het |
Slc22a26 |
T |
C |
19: 7,767,540 (GRCm39) |
T289A |
possibly damaging |
Het |
Slc24a3 |
T |
C |
2: 145,360,767 (GRCm39) |
V120A |
possibly damaging |
Het |
Sost |
C |
T |
11: 101,854,767 (GRCm39) |
G181R |
probably damaging |
Het |
Sp2 |
A |
G |
11: 96,846,664 (GRCm39) |
F554L |
probably benign |
Het |
Stim2 |
T |
C |
5: 54,267,939 (GRCm39) |
S87P |
probably damaging |
Het |
Tecta |
T |
C |
9: 42,286,481 (GRCm39) |
D725G |
probably damaging |
Het |
Trgc4 |
A |
G |
13: 19,528,932 (GRCm39) |
|
probably benign |
Het |
Ube4b |
T |
C |
4: 149,427,449 (GRCm39) |
M900V |
probably damaging |
Het |
Ugt2b38 |
A |
G |
5: 87,559,671 (GRCm39) |
M407T |
probably damaging |
Het |
Vmn1r87 |
G |
T |
7: 12,865,792 (GRCm39) |
A165E |
possibly damaging |
Het |
Zc3h6 |
A |
G |
2: 128,856,399 (GRCm39) |
H493R |
possibly damaging |
Het |
Zfhx2 |
A |
T |
14: 55,312,232 (GRCm39) |
F154Y |
probably benign |
Het |
Zfp729a |
A |
G |
13: 67,785,764 (GRCm39) |
|
probably null |
Het |
Zfp976 |
A |
G |
7: 42,261,925 (GRCm39) |
|
probably null |
Het |
Zhx1 |
C |
G |
15: 57,917,470 (GRCm39) |
G259R |
probably damaging |
Het |
Znfx1 |
A |
T |
2: 166,888,859 (GRCm39) |
V783E |
possibly damaging |
Het |
|
Other mutations in Pira1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R1514:Pira1
|
UTSW |
7 |
3,742,639 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3902:Pira1
|
UTSW |
7 |
3,740,276 (GRCm39) |
missense |
probably damaging |
0.99 |
R4246:Pira1
|
UTSW |
7 |
3,740,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R5178:Pira1
|
UTSW |
7 |
3,742,396 (GRCm39) |
nonsense |
probably null |
|
R5388:Pira1
|
UTSW |
7 |
3,741,856 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5471:Pira1
|
UTSW |
7 |
3,738,514 (GRCm39) |
missense |
probably benign |
0.02 |
R5985:Pira1
|
UTSW |
7 |
3,740,316 (GRCm39) |
missense |
probably damaging |
1.00 |
R6248:Pira1
|
UTSW |
7 |
3,739,337 (GRCm39) |
missense |
probably benign |
|
R6360:Pira1
|
UTSW |
7 |
3,739,503 (GRCm39) |
missense |
probably damaging |
1.00 |
R6451:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R6453:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R6454:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R6455:Pira1
|
UTSW |
7 |
3,741,930 (GRCm39) |
missense |
probably benign |
0.00 |
R6594:Pira1
|
UTSW |
7 |
3,739,498 (GRCm39) |
nonsense |
probably null |
|
R6654:Pira1
|
UTSW |
7 |
3,738,928 (GRCm39) |
missense |
probably benign |
0.19 |
R6813:Pira1
|
UTSW |
7 |
3,739,002 (GRCm39) |
missense |
probably benign |
0.03 |
R6972:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R6975:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7069:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7072:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7188:Pira1
|
UTSW |
7 |
3,741,828 (GRCm39) |
missense |
probably damaging |
0.99 |
R7304:Pira1
|
UTSW |
7 |
3,740,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R7329:Pira1
|
UTSW |
7 |
3,742,875 (GRCm39) |
start gained |
probably benign |
|
R7404:Pira1
|
UTSW |
7 |
3,742,344 (GRCm39) |
missense |
probably damaging |
1.00 |
R7454:Pira1
|
UTSW |
7 |
3,738,509 (GRCm39) |
missense |
probably benign |
0.03 |
R7493:Pira1
|
UTSW |
7 |
3,742,023 (GRCm39) |
missense |
not run |
|
R7655:Pira1
|
UTSW |
7 |
3,742,281 (GRCm39) |
missense |
probably damaging |
0.98 |
R7656:Pira1
|
UTSW |
7 |
3,742,281 (GRCm39) |
missense |
probably damaging |
0.98 |
R7953:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7956:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R7957:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8037:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8038:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8043:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8096:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8117:Pira1
|
UTSW |
7 |
3,740,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R8128:Pira1
|
UTSW |
7 |
3,740,319 (GRCm39) |
missense |
probably damaging |
1.00 |
R8134:Pira1
|
UTSW |
7 |
3,738,838 (GRCm39) |
missense |
probably damaging |
0.99 |
R8142:Pira1
|
UTSW |
7 |
3,739,842 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8311:Pira1
|
UTSW |
7 |
3,739,482 (GRCm39) |
missense |
probably benign |
0.42 |
R8511:Pira1
|
UTSW |
7 |
3,742,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R8519:Pira1
|
UTSW |
7 |
3,740,432 (GRCm39) |
missense |
probably benign |
0.27 |
R8927:Pira1
|
UTSW |
7 |
3,742,358 (GRCm39) |
missense |
probably benign |
|
R8928:Pira1
|
UTSW |
7 |
3,742,358 (GRCm39) |
missense |
probably benign |
|
R9306:Pira1
|
UTSW |
7 |
3,740,360 (GRCm39) |
missense |
probably benign |
0.00 |
R9330:Pira1
|
UTSW |
7 |
3,742,234 (GRCm39) |
missense |
probably damaging |
1.00 |
R9564:Pira1
|
UTSW |
7 |
3,742,646 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGCCTGATGATTCATCCTGGG -3'
(R):5'- TTCATATCCAGGAGCCATGC -3'
Sequencing Primer
(F):5'- GTGCTGTAGGAACATCGATATTGACC -3'
(R):5'- CCATGCCTGGGCTGTGATG -3'
|
Posted On |
2016-06-15 |