Incidental Mutation 'R9330:Pira1'
ID |
706791 |
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 |
|
Accession Numbers |
|
Essential gene? |
Not available
|
Stock # |
R9330 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3734629-3742888 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 3742234 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 98
(C98S)
|
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: C98S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
A |
5: 113,330,833 (GRCm39) |
D1127V |
probably benign |
Het |
Ajap1 |
A |
G |
4: 153,516,961 (GRCm39) |
S127P |
probably damaging |
Het |
Cdon |
T |
A |
9: 35,400,275 (GRCm39) |
Y996* |
probably null |
Het |
Cnr2 |
A |
G |
4: 135,644,312 (GRCm39) |
D130G |
probably damaging |
Het |
Cyp2j12 |
A |
G |
4: 95,994,791 (GRCm39) |
V344A |
probably damaging |
Het |
Cyp4a32 |
T |
A |
4: 115,478,635 (GRCm39) |
C456S |
probably damaging |
Het |
Dipk1a |
A |
T |
5: 108,059,583 (GRCm39) |
D123E |
probably benign |
Het |
Dsc1 |
T |
A |
18: 20,243,214 (GRCm39) |
T80S |
possibly damaging |
Het |
Esyt2 |
G |
A |
12: 116,305,765 (GRCm39) |
V332I |
probably benign |
Het |
Fcgbpl1 |
C |
T |
7: 27,856,410 (GRCm39) |
H2066Y |
probably benign |
Het |
G2e3 |
C |
T |
12: 51,403,928 (GRCm39) |
Q161* |
probably null |
Het |
Galnt18 |
C |
A |
7: 111,071,271 (GRCm39) |
R566L |
probably benign |
Het |
Gatb |
C |
T |
3: 85,559,801 (GRCm39) |
P542S |
probably benign |
Het |
Gpt |
G |
A |
15: 76,581,215 (GRCm39) |
R53H |
possibly damaging |
Het |
Herpud2 |
T |
C |
9: 25,036,246 (GRCm39) |
E138G |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,317,713 (GRCm39) |
Y2063C |
probably damaging |
Het |
Hoxd12 |
T |
A |
2: 74,505,733 (GRCm39) |
Y101* |
probably null |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Lama4 |
T |
C |
10: 38,954,722 (GRCm39) |
F1092L |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,012,993 (GRCm39) |
S1985P |
|
Het |
Malrd1 |
C |
T |
2: 16,260,089 (GRCm39) |
P2103L |
unknown |
Het |
Mbnl1 |
C |
A |
3: 60,511,168 (GRCm39) |
N41K |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,552,332 (GRCm39) |
N4654D |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,859,723 (GRCm39) |
T1241A |
probably benign |
Het |
Ncam1 |
T |
C |
9: 49,456,097 (GRCm39) |
D507G |
probably benign |
Het |
Nfxl1 |
A |
T |
5: 72,681,451 (GRCm39) |
D693E |
probably benign |
Het |
Npr1 |
A |
T |
3: 90,365,979 (GRCm39) |
I604N |
possibly damaging |
Het |
Obscn |
G |
A |
11: 58,971,047 (GRCm39) |
H2280Y |
possibly damaging |
Het |
Or5b105 |
T |
A |
19: 13,080,588 (GRCm39) |
I27F |
probably benign |
Het |
Or7c70 |
T |
C |
10: 78,683,153 (GRCm39) |
T199A |
probably benign |
Het |
Pcdh10 |
T |
C |
3: 45,335,618 (GRCm39) |
V644A |
probably damaging |
Het |
Pgk2 |
T |
A |
17: 40,519,078 (GRCm39) |
I117F |
probably benign |
Het |
Pinx1 |
T |
A |
14: 64,109,777 (GRCm39) |
S110T |
probably benign |
Het |
Psmd1 |
A |
G |
1: 86,061,490 (GRCm39) |
Y900C |
probably damaging |
Het |
Rab3a |
C |
T |
8: 71,209,881 (GRCm39) |
R149C |
probably damaging |
Het |
Samsn1 |
T |
A |
16: 75,673,433 (GRCm39) |
N148Y |
probably damaging |
Het |
Sin3a |
C |
T |
9: 57,032,481 (GRCm39) |
R1142C |
probably damaging |
Het |
Snrnp27 |
A |
G |
6: 86,653,184 (GRCm39) |
C145R |
probably benign |
Het |
Sorl1 |
A |
C |
9: 41,979,229 (GRCm39) |
V423G |
probably damaging |
Het |
Sptlc3 |
G |
T |
2: 139,388,423 (GRCm39) |
M138I |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,065,143 (GRCm39) |
F1524L |
probably benign |
Het |
Tln2 |
T |
C |
9: 67,229,213 (GRCm39) |
N113D |
possibly damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tnfsf14 |
T |
A |
17: 57,501,020 (GRCm39) |
D17V |
probably damaging |
Het |
Trmt44 |
T |
C |
5: 35,727,264 (GRCm39) |
D317G |
probably damaging |
Het |
Trpc2 |
T |
C |
7: 101,739,764 (GRCm39) |
F563L |
probably benign |
Het |
Ubox5 |
T |
C |
2: 130,442,165 (GRCm39) |
K174R |
probably benign |
Het |
Vrk3 |
T |
C |
7: 44,424,910 (GRCm39) |
S442P |
probably damaging |
Het |
Wdr64 |
A |
T |
1: 175,554,024 (GRCm39) |
T185S |
possibly damaging |
Het |
Wfdc15a |
A |
T |
2: 164,041,632 (GRCm39) |
C64S |
probably damaging |
Het |
Zfp688 |
A |
G |
7: 127,021,077 (GRCm39) |
Y34H |
probably damaging |
Het |
Zfp808 |
A |
T |
13: 62,319,974 (GRCm39) |
H401L |
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 |
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 |
R9564:Pira1
|
UTSW |
7 |
3,742,646 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Predicted Primers |
PCR Primer
(F):5'- CATTCTCCTTGGCTCTGAGG -3'
(R):5'- TGTTACTTGCAGGGTCCCTC -3'
Sequencing Primer
(F):5'- TCTGAGGTTCCCACAGTGAG -3'
(R):5'- TCAGAGTACAGCCAGACTCTGTG -3'
|
Posted On |
2022-04-18 |