Incidental Mutation 'R8038:Pira1'
| ID |
618331 |
| 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 |
067475-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R8038 (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 |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,106,730 (GRCm39) |
M143K |
probably damaging |
Het |
| Accs |
A |
T |
2: 93,673,262 (GRCm39) |
|
probably null |
Het |
| Alkbh5 |
T |
C |
11: 60,429,811 (GRCm39) |
V188A |
probably damaging |
Het |
| Cacna1h |
C |
T |
17: 25,594,865 (GRCm39) |
V2098I |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,067,416 (GRCm39) |
Y580H |
probably damaging |
Het |
| Col7a1 |
A |
G |
9: 108,786,360 (GRCm39) |
N530S |
unknown |
Het |
| Cops2 |
A |
T |
2: 125,674,206 (GRCm39) |
H420Q |
probably benign |
Het |
| Ctcfl |
A |
T |
2: 172,943,698 (GRCm39) |
C551S |
probably damaging |
Het |
| Depdc5 |
T |
C |
5: 33,116,692 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
C |
9: 20,852,860 (GRCm39) |
V82G |
probably damaging |
Het |
| Fam90a1a |
A |
T |
8: 22,453,455 (GRCm39) |
N270I |
possibly damaging |
Het |
| Foxn4 |
T |
C |
5: 114,394,658 (GRCm39) |
D423G |
probably damaging |
Het |
| Hoxa5 |
A |
G |
6: 52,181,309 (GRCm39) |
S8P |
probably damaging |
Het |
| Ighe |
A |
T |
12: 113,233,053 (GRCm39) |
V456D |
|
Het |
| Ighv1-52 |
A |
G |
12: 115,109,210 (GRCm39) |
F83S |
probably damaging |
Het |
| Itga2 |
A |
T |
13: 114,990,291 (GRCm39) |
N921K |
probably damaging |
Het |
| Kdm2b |
T |
C |
5: 123,098,958 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
G |
11: 115,741,929 (GRCm39) |
M657R |
probably benign |
Het |
| Lrrcc1 |
T |
A |
3: 14,630,890 (GRCm39) |
I1019K |
possibly damaging |
Het |
| Lrriq3 |
A |
T |
3: 154,869,638 (GRCm39) |
D321V |
probably benign |
Het |
| Lsm10 |
T |
C |
4: 125,991,890 (GRCm39) |
V82A |
probably damaging |
Het |
| Mettl3 |
A |
G |
14: 52,537,421 (GRCm39) |
S154P |
possibly damaging |
Het |
| Naip2 |
T |
C |
13: 100,298,570 (GRCm39) |
I489V |
probably benign |
Het |
| Nat8f5 |
T |
A |
6: 85,794,667 (GRCm39) |
T98S |
possibly damaging |
Het |
| Or10w1 |
G |
A |
19: 13,632,719 (GRCm39) |
V309M |
possibly damaging |
Het |
| Or4c113 |
A |
T |
2: 88,885,212 (GRCm39) |
L186Q |
probably damaging |
Het |
| Or7e166 |
G |
T |
9: 19,624,976 (GRCm39) |
M284I |
possibly damaging |
Het |
| Or8d6 |
T |
A |
9: 39,854,177 (GRCm39) |
V207D |
probably damaging |
Het |
| Pld5 |
T |
C |
1: 175,872,463 (GRCm39) |
I225V |
probably benign |
Het |
| Ppfia1 |
C |
A |
7: 144,068,653 (GRCm39) |
A414S |
possibly damaging |
Het |
| Ppib |
T |
C |
9: 65,967,615 (GRCm39) |
V23A |
probably benign |
Het |
| Rabggta |
A |
T |
14: 55,956,387 (GRCm39) |
S361T |
probably benign |
Het |
| Rap1gap2 |
T |
C |
11: 74,283,109 (GRCm39) |
S664G |
probably benign |
Het |
| Recql5 |
A |
G |
11: 115,818,178 (GRCm39) |
V285A |
possibly damaging |
Het |
| Rtn4rl1 |
G |
C |
11: 75,156,707 (GRCm39) |
E380Q |
possibly damaging |
Het |
| Scarb2 |
A |
T |
5: 92,599,307 (GRCm39) |
S338T |
probably damaging |
Het |
| Skint4 |
T |
G |
4: 111,977,003 (GRCm39) |
|
probably benign |
Het |
| Slc13a5 |
T |
C |
11: 72,144,196 (GRCm39) |
K294R |
probably benign |
Het |
| Spib |
A |
G |
7: 44,179,310 (GRCm39) |
F32S |
probably benign |
Het |
| Spint2 |
A |
G |
7: 28,959,554 (GRCm39) |
|
probably benign |
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 |
| Tecpr2 |
T |
C |
12: 110,902,854 (GRCm39) |
F860L |
probably benign |
Het |
| Tg |
A |
G |
15: 66,560,724 (GRCm39) |
M1029V |
probably benign |
Het |
| Tmem126b |
C |
T |
7: 90,118,830 (GRCm39) |
V153I |
probably benign |
Het |
| Uba2 |
A |
T |
7: 33,847,022 (GRCm39) |
Y440N |
probably damaging |
Het |
| Vwa2 |
A |
G |
19: 56,886,320 (GRCm39) |
E129G |
probably benign |
Het |
| Wapl |
A |
G |
14: 34,413,639 (GRCm39) |
D167G |
probably benign |
Het |
| Zfp64 |
A |
G |
2: 168,741,932 (GRCm39) |
F332S |
probably damaging |
Het |
| Zfp786 |
C |
T |
6: 47,798,188 (GRCm39) |
R250H |
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 |
|
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 |
|
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'- AGTACTGACAGCCTGGGTTC -3'
(R):5'- TCTGTGATCACCTCCAAAAGAGC -3'
Sequencing Primer
(F):5'- ACTGACAGCCTGGGTTCATAGTATTC -3'
(R):5'- TCCAAAAGAGCAATGACCATCTGG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation