Incidental Mutation 'R6453:Pira1'
| ID |
520107 |
| 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 |
044589-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R6453 (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: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
C |
T |
17: 35,879,109 (GRCm39) |
S149L |
possibly damaging |
Het |
| A830018L16Rik |
A |
T |
1: 11,868,782 (GRCm39) |
D354V |
possibly damaging |
Het |
| Acta2 |
G |
A |
19: 34,224,057 (GRCm39) |
T150I |
probably damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,343 (GRCm39) |
S324T |
probably benign |
Het |
| Ankrd44 |
A |
T |
1: 54,696,863 (GRCm39) |
|
probably null |
Het |
| B430306N03Rik |
T |
A |
17: 48,623,764 (GRCm39) |
W22R |
probably damaging |
Het |
| Ccdc162 |
A |
T |
10: 41,426,821 (GRCm39) |
V2024E |
probably damaging |
Het |
| Cers6 |
C |
T |
2: 68,877,513 (GRCm39) |
H164Y |
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,240,938 (GRCm39) |
K1458* |
probably null |
Het |
| Cimip1 |
A |
G |
2: 173,370,052 (GRCm39) |
Y109C |
probably benign |
Het |
| Col3a1 |
G |
A |
1: 45,378,538 (GRCm39) |
|
probably benign |
Het |
| Cyb5d2 |
T |
G |
11: 72,673,586 (GRCm39) |
T3P |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 139,071,686 (GRCm39) |
Y468C |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,643,359 (GRCm39) |
E427G |
probably damaging |
Het |
| Exoc7 |
T |
C |
11: 116,184,795 (GRCm39) |
|
probably null |
Het |
| Fat2 |
A |
G |
11: 55,173,042 (GRCm39) |
I2557T |
probably benign |
Het |
| Flt1 |
T |
C |
5: 147,620,751 (GRCm39) |
D131G |
possibly damaging |
Het |
| Frem1 |
G |
T |
4: 82,833,062 (GRCm39) |
S1858* |
probably null |
Het |
| Garem1 |
T |
A |
18: 21,281,796 (GRCm39) |
I187F |
probably damaging |
Het |
| Gldc |
A |
T |
19: 30,093,917 (GRCm39) |
I700N |
probably damaging |
Het |
| Gpatch4 |
A |
G |
3: 87,962,312 (GRCm39) |
E175G |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,648,281 (GRCm39) |
Y152H |
possibly damaging |
Het |
| H2-Q2 |
C |
T |
17: 35,563,871 (GRCm39) |
L251F |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,488,655 (GRCm39) |
G3649R |
probably damaging |
Het |
| Hormad1 |
A |
G |
3: 95,485,568 (GRCm39) |
E252G |
probably benign |
Het |
| Kif14 |
A |
G |
1: 136,410,042 (GRCm39) |
|
probably null |
Het |
| Lmcd1 |
A |
G |
6: 112,292,789 (GRCm39) |
T214A |
probably benign |
Het |
| Macrod2 |
A |
G |
2: 142,018,545 (GRCm39) |
E226G |
probably damaging |
Het |
| Mcm4 |
A |
T |
16: 15,448,273 (GRCm39) |
L428Q |
probably damaging |
Het |
| Msh6 |
T |
A |
17: 88,293,167 (GRCm39) |
Y641N |
probably damaging |
Het |
| Myo7a |
C |
T |
7: 97,722,374 (GRCm39) |
V1184M |
probably benign |
Het |
| Nipa2 |
A |
T |
7: 55,585,569 (GRCm39) |
M142K |
probably damaging |
Het |
| Or8b1c |
T |
C |
9: 38,384,871 (GRCm39) |
I276T |
probably benign |
Het |
| Parvg |
A |
T |
15: 84,213,126 (GRCm39) |
E122V |
probably null |
Het |
| Pclo |
T |
A |
5: 14,726,803 (GRCm39) |
|
probably benign |
Het |
| Pik3cd |
A |
G |
4: 149,736,759 (GRCm39) |
V933A |
probably damaging |
Het |
| Qpctl |
C |
T |
7: 18,875,222 (GRCm39) |
V337I |
probably damaging |
Het |
| Qrfprl |
G |
A |
6: 65,430,014 (GRCm39) |
G237S |
possibly damaging |
Het |
| Ralgapa1 |
A |
G |
12: 55,785,104 (GRCm39) |
W719R |
probably damaging |
Het |
| Rangrf |
A |
G |
11: 68,864,378 (GRCm39) |
L28P |
probably damaging |
Het |
| Rbbp9 |
G |
T |
2: 144,391,054 (GRCm39) |
Q38K |
probably benign |
Het |
| Rnf169 |
C |
T |
7: 99,584,434 (GRCm39) |
M246I |
probably benign |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,124 (GRCm39) |
|
probably benign |
Het |
| Sdk1 |
A |
G |
5: 142,082,676 (GRCm39) |
D1098G |
probably damaging |
Het |
| Sgsm3 |
T |
A |
15: 80,895,515 (GRCm39) |
S689T |
probably damaging |
Het |
| Slc13a3 |
C |
T |
2: 165,253,867 (GRCm39) |
V429M |
possibly damaging |
Het |
| Slc30a5 |
A |
T |
13: 100,951,197 (GRCm39) |
D228E |
probably benign |
Het |
| Slc46a3 |
A |
G |
5: 147,823,200 (GRCm39) |
I214T |
possibly damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,584,490 (GRCm39) |
M347V |
possibly damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,781,781 (GRCm39) |
I337F |
possibly damaging |
Het |
| Sostdc1 |
C |
A |
12: 36,364,407 (GRCm39) |
P39T |
probably benign |
Het |
| Speg |
A |
G |
1: 75,394,616 (GRCm39) |
N1775S |
probably benign |
Het |
| Spg7 |
A |
G |
8: 123,806,162 (GRCm39) |
K291E |
possibly damaging |
Het |
| Sptbn2 |
A |
T |
19: 4,794,208 (GRCm39) |
R1471W |
possibly damaging |
Het |
| Thada |
T |
C |
17: 84,723,751 (GRCm39) |
E1101G |
probably damaging |
Het |
| Trpm6 |
G |
A |
19: 18,807,354 (GRCm39) |
A1033T |
probably damaging |
Het |
| Ttll6 |
G |
A |
11: 96,049,553 (GRCm39) |
R757H |
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 |
|
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'- AGTACTGACAGCCTGGGTTC -3'
(R):5'- GTGATCACCTCCAAAAGAGCAATG -3'
Sequencing Primer
(F):5'- ACTGACAGCCTGGGTTCATAGTATTC -3'
(R):5'- TCCAAAAGAGCAATGACCATCTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation