Incidental Mutation 'R7957:Pira1'
| ID |
649886 |
| 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 |
046001-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R7957 (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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (46/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,982,439 (GRCm39) |
M1T |
probably null |
Het |
| Abhd2 |
T |
A |
7: 78,975,194 (GRCm39) |
M128K |
probably benign |
Het |
| Adamts12 |
A |
G |
15: 11,317,298 (GRCm39) |
T1333A |
possibly damaging |
Het |
| Alg8 |
A |
G |
7: 97,040,131 (GRCm39) |
T438A |
probably benign |
Het |
| Ccn3 |
G |
T |
15: 54,609,734 (GRCm39) |
S78I |
possibly damaging |
Het |
| Cebpa |
A |
G |
7: 34,819,867 (GRCm39) |
I342V |
possibly damaging |
Het |
| Chd9 |
T |
C |
8: 91,778,326 (GRCm39) |
M2779T |
probably damaging |
Het |
| Cnot3 |
C |
A |
7: 3,661,221 (GRCm39) |
P577T |
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,649,556 (GRCm39) |
D755G |
probably damaging |
Het |
| Col5a3 |
A |
G |
9: 20,685,347 (GRCm39) |
V1443A |
unknown |
Het |
| Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
| Fam193a |
A |
G |
5: 34,619,430 (GRCm39) |
D1031G |
probably damaging |
Het |
| Fam83b |
T |
A |
9: 76,399,267 (GRCm39) |
H612L |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,081,410 (GRCm39) |
T149A |
probably damaging |
Het |
| Gm3667 |
T |
C |
14: 18,269,663 (GRCm39) |
N156D |
probably benign |
Het |
| Hpcal1 |
T |
A |
12: 17,841,171 (GRCm39) |
L183Q |
probably damaging |
Het |
| Ilf2 |
G |
T |
3: 90,394,777 (GRCm39) |
E342* |
probably null |
Het |
| Ints13 |
A |
G |
6: 146,452,264 (GRCm39) |
S652P |
probably damaging |
Het |
| Kansl2 |
C |
A |
15: 98,422,499 (GRCm39) |
E356D |
probably benign |
Het |
| Klhl6 |
T |
C |
16: 19,768,201 (GRCm39) |
E448G |
probably null |
Het |
| Mmp14 |
A |
G |
14: 54,673,707 (GRCm39) |
I124V |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,354,747 (GRCm39) |
D1008E |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,554,767 (GRCm39) |
V3842G |
unknown |
Het |
| Myo9b |
A |
T |
8: 71,807,405 (GRCm39) |
I1614F |
probably benign |
Het |
| Nipa1 |
A |
T |
7: 55,629,547 (GRCm39) |
C189S |
probably damaging |
Het |
| Ntn4 |
T |
C |
10: 93,480,335 (GRCm39) |
|
probably benign |
Het |
| Or12k5 |
A |
G |
2: 36,894,972 (GRCm39) |
I218T |
probably benign |
Het |
| Or2t29 |
A |
G |
11: 58,433,624 (GRCm39) |
L239P |
probably damaging |
Het |
| Or3a4 |
A |
C |
11: 73,944,982 (GRCm39) |
L201R |
probably damaging |
Het |
| Or4x13 |
A |
T |
2: 90,231,395 (GRCm39) |
Y130F |
probably damaging |
Het |
| Or8g17 |
T |
G |
9: 38,930,349 (GRCm39) |
I163L |
probably benign |
Het |
| Pank1 |
T |
A |
19: 34,791,096 (GRCm39) |
H528L |
probably damaging |
Het |
| Pappa2 |
A |
T |
1: 158,589,131 (GRCm39) |
L1698* |
probably null |
Het |
| Park7 |
A |
G |
4: 150,988,341 (GRCm39) |
S85P |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,564,408 (GRCm39) |
D1334G |
probably damaging |
Het |
| Rapgef2 |
T |
C |
3: 79,122,276 (GRCm39) |
E30G |
probably benign |
Het |
| Rhbdf1 |
A |
G |
11: 32,160,523 (GRCm39) |
F676L |
probably damaging |
Het |
| Rsf1 |
GGC |
GGCCACGGCAGC |
7: 97,229,113 (GRCm39) |
|
probably benign |
Het |
| Scd4 |
G |
T |
19: 44,329,687 (GRCm39) |
M219I |
probably benign |
Het |
| Slfn5 |
T |
A |
11: 82,847,613 (GRCm39) |
I166N |
probably benign |
Het |
| Smim22 |
A |
T |
16: 4,826,089 (GRCm39) |
D85V |
probably damaging |
Het |
| Socs2 |
T |
C |
10: 95,250,812 (GRCm39) |
E7G |
probably benign |
Het |
| Thumpd2 |
T |
C |
17: 81,334,157 (GRCm39) |
E477G |
probably benign |
Het |
| Tlr12 |
C |
T |
4: 128,510,483 (GRCm39) |
G589D |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,595,199 (GRCm39) |
I20317K |
probably damaging |
Het |
| Ttyh2 |
A |
G |
11: 114,599,690 (GRCm39) |
|
probably null |
Het |
| Ugt2a3 |
T |
A |
5: 87,475,050 (GRCm39) |
D398V |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,650,589 (GRCm39) |
M101L |
|
Het |
| Vmn2r93 |
A |
T |
17: 18,545,954 (GRCm39) |
R609* |
probably null |
Het |
| Zfp473 |
C |
T |
7: 44,381,916 (GRCm39) |
E806K |
probably damaging |
Het |
| Zfp93 |
T |
C |
7: 23,974,999 (GRCm39) |
L328P |
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 |
|
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'- ACTGACAGCCTGGGTTCATAG -3'
(R):5'- GTGATCACCTCCAAAAGAGCAATG -3'
Sequencing Primer
(F):5'- ACTGACAGCCTGGGTTCATAGTATTC -3'
(R):5'- TCCAAAAGAGCAATGACCATCTGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation