Incidental Mutation 'R8037:Pira1'
| ID |
618290 |
| 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 |
067474-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R8037 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3734629-3742888 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 3740319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Proline
at position 301
(A301P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118068]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118068
AA Change: A301P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,243,904 (GRCm39) |
W1922C |
probably damaging |
Het |
| Acad11 |
T |
A |
9: 103,953,035 (GRCm39) |
I88N |
possibly damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,404,510 (GRCm39) |
C309S |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,771,676 (GRCm39) |
V1343E |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,992,161 (GRCm39) |
Y72N |
probably damaging |
Het |
| Bptf |
T |
C |
11: 106,946,776 (GRCm39) |
T2339A |
probably damaging |
Het |
| Ccdc121rt3 |
A |
G |
5: 112,502,882 (GRCm39) |
V274A |
probably benign |
Het |
| Ccr8 |
T |
C |
9: 119,923,436 (GRCm39) |
F184L |
probably benign |
Het |
| Dbh |
A |
G |
2: 27,055,700 (GRCm39) |
D58G |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,116,692 (GRCm39) |
|
probably null |
Het |
| Dhdds |
G |
A |
4: 133,724,158 (GRCm39) |
T52I |
probably benign |
Het |
| Dnmt1 |
A |
C |
9: 20,852,860 (GRCm39) |
V82G |
probably damaging |
Het |
| Efemp2 |
C |
T |
19: 5,530,141 (GRCm39) |
Q290* |
probably null |
Het |
| Eipr1 |
A |
G |
12: 28,914,676 (GRCm39) |
S277G |
probably benign |
Het |
| Fam110b |
A |
G |
4: 5,799,511 (GRCm39) |
I310V |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,394,658 (GRCm39) |
D423G |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,816,322 (GRCm39) |
N4018K |
possibly damaging |
Het |
| Gm12887 |
T |
A |
4: 121,472,887 (GRCm39) |
D85V |
probably damaging |
Het |
| Gys2 |
A |
G |
6: 142,394,119 (GRCm39) |
V473A |
probably benign |
Het |
| Hnrnpu |
A |
T |
1: 178,159,917 (GRCm39) |
F388Y |
unknown |
Het |
| Hoxa5 |
A |
G |
6: 52,181,309 (GRCm39) |
S8P |
probably damaging |
Het |
| Ier5 |
A |
T |
1: 154,975,175 (GRCm39) |
M1K |
probably null |
Het |
| Ighv1-52 |
A |
G |
12: 115,109,210 (GRCm39) |
F83S |
probably damaging |
Het |
| Lrch1 |
T |
C |
14: 75,023,794 (GRCm39) |
D577G |
probably damaging |
Het |
| Lrrk1 |
A |
T |
7: 65,935,089 (GRCm39) |
M1010K |
probably benign |
Het |
| Mttp |
T |
G |
3: 137,796,883 (GRCm39) |
N873T |
probably damaging |
Het |
| Nphs2 |
A |
G |
1: 156,138,400 (GRCm39) |
R15G |
possibly damaging |
Het |
| Or4a70 |
A |
T |
2: 89,324,055 (GRCm39) |
N200K |
possibly damaging |
Het |
| Or5d16 |
T |
C |
2: 87,773,319 (GRCm39) |
T218A |
probably benign |
Het |
| Or8d6 |
T |
A |
9: 39,854,177 (GRCm39) |
V207D |
probably damaging |
Het |
| Pcdhga8 |
T |
C |
18: 37,860,071 (GRCm39) |
S376P |
probably damaging |
Het |
| Pde3a |
A |
G |
6: 141,429,650 (GRCm39) |
N737S |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,336,509 (GRCm39) |
L209P |
possibly damaging |
Het |
| Rin1 |
T |
A |
19: 5,101,852 (GRCm39) |
L179Q |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,659,483 (GRCm39) |
M57K |
probably benign |
Het |
| Senp2 |
C |
T |
16: 21,832,888 (GRCm39) |
Q59* |
probably null |
Het |
| St8sia5 |
G |
A |
18: 77,336,238 (GRCm39) |
V224I |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,045,571 (GRCm39) |
D16E |
probably damaging |
Het |
| Tab1 |
A |
G |
15: 80,044,471 (GRCm39) |
T500A |
probably benign |
Het |
| Tead1 |
A |
G |
7: 112,358,727 (GRCm39) |
D13G |
possibly damaging |
Het |
| Tecpr2 |
T |
C |
12: 110,902,854 (GRCm39) |
F860L |
probably benign |
Het |
| Tg |
A |
G |
15: 66,560,724 (GRCm39) |
M1029V |
probably benign |
Het |
| Tnni2 |
A |
G |
7: 141,997,691 (GRCm39) |
R109G |
probably damaging |
Het |
| Unc79 |
A |
G |
12: 103,016,178 (GRCm39) |
K320R |
probably damaging |
Het |
| Vmn1r9 |
T |
A |
6: 57,047,988 (GRCm39) |
V21D |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,741,932 (GRCm39) |
F332S |
probably 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 |
|
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 |
|
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 |
|
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'- CTGACAGCCTGGGTTCATAG -3'
(R):5'- TGTGATCACCTCCAAAAGAGC -3'
Sequencing Primer
(F):5'- ACAGCCTGGGTTCATAGTATTC -3'
(R):5'- TCCAAAAGAGCAATGACCATCTGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation