Incidental Mutation 'R5471:Pira1'
ID |
433808 |
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 |
043032-MU
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R5471 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
3734629-3742888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3738514 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 621
(I621F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118068]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000118068
AA Change: I621F
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.5%
|
Validation Efficiency |
96% (67/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm1 |
C |
T |
7: 119,259,829 (GRCm39) |
H493Y |
probably damaging |
Het |
Alox12e |
T |
C |
11: 70,210,850 (GRCm39) |
I290V |
probably benign |
Het |
Ankfy1 |
T |
A |
11: 72,619,617 (GRCm39) |
N163K |
probably benign |
Het |
Baiap2l1 |
T |
G |
5: 144,218,951 (GRCm39) |
N219T |
probably benign |
Het |
Cd72 |
T |
C |
4: 43,448,345 (GRCm39) |
I312V |
probably benign |
Het |
Cfap54 |
A |
T |
10: 92,864,522 (GRCm39) |
M139K |
probably damaging |
Het |
Clec4n |
T |
A |
6: 123,209,145 (GRCm39) |
M70K |
probably benign |
Het |
Cmklr2 |
A |
C |
1: 63,223,058 (GRCm39) |
V59G |
probably damaging |
Het |
Cwh43 |
T |
A |
5: 73,565,574 (GRCm39) |
C46* |
probably null |
Het |
Cyp1a2 |
A |
T |
9: 57,586,303 (GRCm39) |
I405N |
probably damaging |
Het |
Dlc1 |
G |
T |
8: 37,051,879 (GRCm39) |
S617R |
probably benign |
Het |
Eif2ak4 |
A |
G |
2: 118,304,613 (GRCm39) |
N1546S |
probably benign |
Het |
Elmo1 |
A |
G |
13: 20,756,555 (GRCm39) |
I548V |
probably benign |
Het |
Exoc6 |
A |
G |
19: 37,588,065 (GRCm39) |
D566G |
probably benign |
Het |
Fam20b |
T |
C |
1: 156,533,299 (GRCm39) |
T106A |
probably damaging |
Het |
Fam83h |
T |
C |
15: 75,874,752 (GRCm39) |
T862A |
probably benign |
Het |
Fgfr1op2 |
A |
T |
6: 146,498,860 (GRCm39) |
|
probably null |
Het |
Gcnt2 |
A |
G |
13: 41,014,195 (GRCm39) |
Y122C |
probably damaging |
Het |
Gm11992 |
A |
T |
11: 9,018,333 (GRCm39) |
|
probably null |
Het |
Gm5114 |
C |
A |
7: 39,058,534 (GRCm39) |
E362* |
probably null |
Het |
Gm815 |
A |
G |
19: 26,865,769 (GRCm39) |
T96A |
unknown |
Het |
Gm8674 |
A |
G |
13: 50,054,849 (GRCm39) |
|
noncoding transcript |
Het |
Gnat3 |
T |
A |
5: 18,196,322 (GRCm39) |
I56N |
probably damaging |
Het |
Igkv1-133 |
T |
C |
6: 67,702,531 (GRCm39) |
V83A |
probably benign |
Het |
Mrgprb8 |
T |
A |
7: 48,038,471 (GRCm39) |
N47K |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,197,917 (GRCm39) |
D1182G |
probably damaging |
Het |
Neto2 |
T |
C |
8: 86,367,389 (GRCm39) |
T480A |
probably benign |
Het |
Npnt |
T |
G |
3: 132,620,148 (GRCm39) |
N115T |
probably benign |
Het |
Nr1h5 |
T |
C |
3: 102,856,442 (GRCm39) |
N279S |
possibly damaging |
Het |
Ntrk2 |
T |
C |
13: 59,019,574 (GRCm39) |
V395A |
probably benign |
Het |
Or2ak6 |
T |
C |
11: 58,593,151 (GRCm39) |
L208S |
probably damaging |
Het |
Or5ac23 |
T |
G |
16: 59,148,994 (GRCm39) |
N293H |
probably damaging |
Het |
Or6c1 |
A |
G |
10: 129,517,925 (GRCm39) |
S228P |
probably damaging |
Het |
Padi2 |
A |
G |
4: 140,660,519 (GRCm39) |
K333R |
possibly damaging |
Het |
Ptgis |
C |
A |
2: 167,066,039 (GRCm39) |
M130I |
probably benign |
Het |
Ptpn4 |
A |
T |
1: 119,693,649 (GRCm39) |
Y124* |
probably null |
Het |
Saal1 |
C |
T |
7: 46,349,072 (GRCm39) |
V281M |
probably benign |
Het |
Saxo1 |
G |
A |
4: 86,363,961 (GRCm39) |
T174I |
probably damaging |
Het |
Slc7a12 |
G |
A |
3: 14,545,935 (GRCm39) |
V27M |
probably damaging |
Het |
Slco4c1 |
C |
A |
1: 96,799,770 (GRCm39) |
R22L |
probably benign |
Het |
Slfn9 |
T |
G |
11: 82,873,613 (GRCm39) |
Q430P |
possibly damaging |
Het |
Slit2 |
T |
A |
5: 48,346,897 (GRCm39) |
N246K |
probably damaging |
Het |
Stox2 |
G |
T |
8: 47,646,548 (GRCm39) |
T304K |
probably damaging |
Het |
Tmem87b |
T |
G |
2: 128,693,240 (GRCm39) |
F542V |
possibly damaging |
Het |
Topaz1 |
T |
G |
9: 122,620,481 (GRCm39) |
|
probably null |
Het |
Trappc12 |
G |
A |
12: 28,741,499 (GRCm39) |
R737W |
probably damaging |
Het |
Trim9 |
A |
G |
12: 70,393,566 (GRCm39) |
I126T |
possibly damaging |
Het |
Txnl1 |
A |
G |
18: 63,809,997 (GRCm39) |
C149R |
probably damaging |
Het |
Ubald1 |
G |
A |
16: 4,693,705 (GRCm39) |
T70M |
probably damaging |
Het |
Vash1 |
G |
A |
12: 86,735,902 (GRCm39) |
V263M |
possibly damaging |
Het |
Vsx1 |
T |
C |
2: 150,524,986 (GRCm39) |
T343A |
probably benign |
Het |
Zfp397 |
A |
G |
18: 24,093,081 (GRCm39) |
N189D |
probably benign |
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 |
R5125:Pira1
|
UTSW |
7 |
3,742,396 (GRCm39) |
nonsense |
probably null |
|
R5178:Pira1
|
UTSW |
7 |
3,742,396 (GRCm39) |
nonsense |
probably null |
|
R5388:Pira1
|
UTSW |
7 |
3,741,856 (GRCm39) |
missense |
possibly damaging |
0.49 |
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'- GTAGCCGAACAGTTAAGCCC -3'
(R):5'- CTGTATCAGGGCTCTTACTGG -3'
Sequencing Primer
(F):5'- AGTTAAGCCCCAGCCTCTG -3'
(R):5'- CTGGGGTGGGATTAAGGGCAC -3'
|
Posted On |
2016-10-06 |