Incidental Mutation 'R9328:Pira13'
ID |
706643 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pira13
|
Ensembl Gene |
ENSMUSG00000074419 |
Gene Name |
paired-Ig-like receptor A13 |
Synonyms |
Gm15448, ENSMUSG00000074419 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.051)
|
Stock # |
R9328 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
3819780-3828686 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 3827580 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 192
(R192S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094911]
[ENSMUST00000108619]
[ENSMUST00000108620]
[ENSMUST00000153846]
[ENSMUST00000189095]
|
AlphaFold |
F6PZL4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094911
AA Change: R192S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000092515 Gene: ENSMUSG00000074419 AA Change: R192S
Domain | Start | End | E-Value | Type |
IG_like
|
40 |
105 |
3.26e0 |
SMART |
IG
|
129 |
315 |
1.37e-1 |
SMART |
IG_like
|
237 |
302 |
2.2e-1 |
SMART |
IG
|
328 |
415 |
6.31e-1 |
SMART |
IG
|
430 |
519 |
8.01e-3 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000104259 Gene: ENSMUSG00000074419 AA Change: R192S
Domain | Start | End | E-Value | Type |
IG_like
|
40 |
105 |
3.26e0 |
SMART |
IG
|
129 |
315 |
1.37e-1 |
SMART |
IG_like
|
237 |
302 |
2.2e-1 |
SMART |
IG
|
328 |
415 |
6.31e-1 |
SMART |
IG_like
|
429 |
517 |
6.02e0 |
SMART |
IG
|
529 |
618 |
8.01e-3 |
SMART |
low complexity region
|
637 |
646 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108620
AA Change: R192S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000104260 Gene: ENSMUSG00000074419 AA Change: R192S
Domain | Start | End | E-Value | Type |
IG_like
|
40 |
105 |
3.26e0 |
SMART |
IG
|
129 |
315 |
1.37e-1 |
SMART |
IG_like
|
237 |
302 |
2.2e-1 |
SMART |
IG
|
328 |
415 |
6.31e-1 |
SMART |
IG
|
430 |
519 |
8.01e-3 |
SMART |
low complexity region
|
538 |
547 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000153846
AA Change: R192S
|
SMART Domains |
Protein: ENSMUSP00000121707 Gene: ENSMUSG00000074419 AA Change: R192S
Domain | Start | End | E-Value | Type |
IG
|
7 |
96 |
8.01e-3 |
SMART |
low complexity region
|
132 |
141 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000189095
AA Change: R192S
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000140974 Gene: ENSMUSG00000074419 AA Change: R192S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
IG_like
|
40 |
105 |
1.3e-2 |
SMART |
IG
|
129 |
315 |
5.7e-4 |
SMART |
IG_like
|
237 |
302 |
9e-4 |
SMART |
IG
|
328 |
415 |
2.6e-3 |
SMART |
IG_like
|
429 |
517 |
2.4e-2 |
SMART |
IG
|
529 |
618 |
3.3e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1600014C10Rik |
A |
G |
7: 37,894,272 (GRCm39) |
T102A |
probably benign |
Het |
1700109H08Rik |
A |
G |
5: 3,632,161 (GRCm39) |
K164E |
possibly damaging |
Het |
2610042L04Rik |
C |
T |
14: 4,350,013 (GRCm38) |
Q74* |
probably null |
Het |
Aadacl4fm4 |
T |
A |
4: 144,401,256 (GRCm39) |
H76L |
probably benign |
Het |
Adgrb2 |
T |
A |
4: 129,915,363 (GRCm39) |
M1381K |
probably damaging |
Het |
Adgrv1 |
C |
A |
13: 81,620,523 (GRCm39) |
D3975Y |
probably damaging |
Het |
Ano10 |
C |
T |
9: 122,090,168 (GRCm39) |
E382K |
possibly damaging |
Het |
Ascc3 |
T |
C |
10: 50,535,015 (GRCm39) |
V636A |
probably damaging |
Het |
AU040320 |
T |
C |
4: 126,729,332 (GRCm39) |
V498A |
possibly damaging |
Het |
Bahcc1 |
C |
T |
11: 120,165,885 (GRCm39) |
T1047I |
possibly damaging |
Het |
BC004004 |
A |
T |
17: 29,501,682 (GRCm39) |
T74S |
possibly damaging |
Het |
Bend3 |
A |
G |
10: 43,387,419 (GRCm39) |
D604G |
possibly damaging |
Het |
Brinp3 |
T |
A |
1: 146,707,455 (GRCm39) |
V373E |
probably damaging |
Het |
Bsph2 |
A |
T |
7: 13,290,764 (GRCm39) |
D38E |
probably benign |
Het |
Castor1 |
T |
C |
11: 4,170,423 (GRCm39) |
F140L |
probably benign |
Het |
Catsperd |
A |
G |
17: 56,965,074 (GRCm39) |
I474V |
possibly damaging |
Het |
Ccdc180 |
A |
G |
4: 45,902,447 (GRCm39) |
N292S |
possibly damaging |
Het |
Cd1d1 |
A |
T |
3: 86,905,459 (GRCm39) |
V178E |
possibly damaging |
Het |
Cdca2 |
T |
A |
14: 67,931,131 (GRCm39) |
R521W |
probably damaging |
Het |
Champ1 |
A |
G |
8: 13,929,392 (GRCm39) |
K517E |
probably damaging |
Het |
Chrna9 |
T |
C |
5: 66,128,569 (GRCm39) |
F259S |
probably damaging |
Het |
Chuk |
A |
T |
19: 44,085,422 (GRCm39) |
C241* |
probably null |
Het |
Clns1a |
A |
G |
7: 97,363,240 (GRCm39) |
Y204C |
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,215,692 (GRCm39) |
D416G |
probably damaging |
Het |
Cyp2j7 |
A |
T |
4: 96,115,869 (GRCm39) |
N192K |
probably damaging |
Het |
Ddr2 |
A |
G |
1: 169,829,504 (GRCm39) |
V250A |
probably benign |
Het |
Dlgap2 |
A |
G |
8: 14,777,441 (GRCm39) |
S229G |
probably damaging |
Het |
Dmrt1 |
A |
T |
19: 25,523,231 (GRCm39) |
H194L |
probably damaging |
Het |
Dock7 |
A |
T |
4: 98,968,064 (GRCm39) |
F138I |
|
Het |
Dsg2 |
T |
C |
18: 20,715,847 (GRCm39) |
V263A |
possibly damaging |
Het |
Dusp16 |
A |
G |
6: 134,716,902 (GRCm39) |
L135P |
probably damaging |
Het |
Dysf |
A |
G |
6: 84,050,895 (GRCm39) |
N414S |
probably damaging |
Het |
Efhc1 |
A |
G |
1: 21,030,598 (GRCm39) |
Y177C |
probably damaging |
Het |
Fam83e |
A |
T |
7: 45,372,912 (GRCm39) |
R174S |
probably benign |
Het |
Fgf4 |
C |
T |
7: 144,416,664 (GRCm39) |
L199F |
probably damaging |
Het |
Fignl2 |
A |
G |
15: 100,951,271 (GRCm39) |
L337P |
unknown |
Het |
Gm4353 |
T |
C |
7: 115,682,724 (GRCm39) |
R286G |
probably damaging |
Het |
Gm5142 |
T |
C |
14: 59,416,126 (GRCm39) |
S11G |
probably benign |
Het |
Gpr151 |
A |
G |
18: 42,712,270 (GRCm39) |
V136A |
probably damaging |
Het |
Ift80 |
T |
A |
3: 68,847,483 (GRCm39) |
I338F |
probably damaging |
Het |
Itgb4 |
A |
G |
11: 115,880,625 (GRCm39) |
S693G |
probably benign |
Het |
Kif13a |
T |
A |
13: 46,951,838 (GRCm39) |
I812F |
probably damaging |
Het |
Krit1 |
T |
C |
5: 3,862,577 (GRCm39) |
|
probably null |
Het |
Mapk6 |
T |
C |
9: 75,305,252 (GRCm39) |
D55G |
possibly damaging |
Het |
Matn3 |
A |
G |
12: 9,002,033 (GRCm39) |
I82V |
possibly damaging |
Het |
Mecom |
T |
A |
3: 30,063,994 (GRCm39) |
D32V |
unknown |
Het |
Nacad |
T |
C |
11: 6,552,417 (GRCm39) |
H258R |
possibly damaging |
Het |
Ndufaf5 |
T |
A |
2: 140,030,752 (GRCm39) |
S213T |
possibly damaging |
Het |
Nphp1 |
C |
T |
2: 127,582,892 (GRCm39) |
D674N |
possibly damaging |
Het |
Nsmaf |
A |
G |
4: 6,426,412 (GRCm39) |
L250P |
probably damaging |
Het |
Ogdh |
T |
C |
11: 6,297,838 (GRCm39) |
S571P |
probably benign |
Het |
Or1e31 |
T |
C |
11: 73,690,478 (GRCm39) |
Y35C |
probably damaging |
Het |
Or51i2 |
T |
A |
7: 103,689,268 (GRCm39) |
D88E |
|
Het |
Or8g27 |
T |
C |
9: 39,129,175 (GRCm39) |
I174T |
probably damaging |
Het |
Osbpl11 |
A |
G |
16: 33,047,245 (GRCm39) |
I403V |
probably damaging |
Het |
Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
Plat |
A |
G |
8: 23,268,133 (GRCm39) |
R300G |
probably damaging |
Het |
Ppid |
T |
C |
3: 79,505,059 (GRCm39) |
I134T |
probably damaging |
Het |
Rad51ap2 |
A |
G |
12: 11,507,772 (GRCm39) |
I565V |
probably benign |
Het |
Rasa1 |
T |
C |
13: 85,403,575 (GRCm39) |
|
probably null |
Het |
Sema4a |
C |
T |
3: 88,345,613 (GRCm39) |
W490* |
probably null |
Het |
Septin3 |
A |
G |
15: 82,173,439 (GRCm39) |
Y257C |
probably damaging |
Het |
Sh3rf2 |
C |
A |
18: 42,274,161 (GRCm39) |
F442L |
probably benign |
Het |
Sipa1l1 |
A |
G |
12: 82,388,792 (GRCm39) |
I339M |
possibly damaging |
Het |
Six2 |
T |
C |
17: 85,995,196 (GRCm39) |
N62S |
possibly damaging |
Het |
Slc44a5 |
T |
C |
3: 153,964,678 (GRCm39) |
I526T |
probably benign |
Het |
Smarca5 |
T |
C |
8: 81,447,378 (GRCm39) |
S402G |
probably benign |
Het |
Son |
T |
A |
16: 91,452,645 (GRCm39) |
V464E |
possibly damaging |
Het |
Sorcs3 |
A |
G |
19: 48,785,950 (GRCm39) |
K1144E |
probably damaging |
Het |
Stxbp6 |
A |
G |
12: 44,902,659 (GRCm39) |
L204P |
probably damaging |
Het |
Tchh |
A |
G |
3: 93,351,570 (GRCm39) |
R337G |
unknown |
Het |
Tgm4 |
T |
C |
9: 122,885,697 (GRCm39) |
V413A |
possibly damaging |
Het |
Tmem131 |
G |
A |
1: 36,858,236 (GRCm39) |
Q704* |
probably null |
Het |
Tmpo |
T |
C |
10: 90,998,825 (GRCm39) |
K321E |
probably damaging |
Het |
Trim75 |
G |
T |
8: 65,435,315 (GRCm39) |
N378K |
probably benign |
Het |
Tspan18 |
T |
A |
2: 93,036,065 (GRCm39) |
I227F |
probably benign |
Het |
Ttn |
C |
T |
2: 76,541,526 (GRCm39) |
W33820* |
probably null |
Het |
Urb2 |
T |
A |
8: 124,774,034 (GRCm39) |
Y1522N |
probably damaging |
Het |
Zbtb40 |
T |
C |
4: 136,745,620 (GRCm39) |
N138D |
probably benign |
Het |
Zfp715 |
A |
T |
7: 42,947,328 (GRCm39) |
H877Q |
possibly damaging |
Het |
|
Other mutations in Pira13 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Pira13
|
APN |
7 |
3,826,088 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01675:Pira13
|
APN |
7 |
3,825,607 (GRCm39) |
splice site |
probably benign |
|
IGL02040:Pira13
|
APN |
7 |
3,824,516 (GRCm39) |
splice site |
probably benign |
|
IGL02547:Pira13
|
APN |
7 |
3,824,660 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02749:Pira13
|
APN |
7 |
3,825,624 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02822:Pira13
|
APN |
7 |
3,819,917 (GRCm39) |
missense |
possibly damaging |
0.50 |
IGL02883:Pira13
|
APN |
7 |
3,825,179 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03140:Pira13
|
APN |
7 |
3,826,247 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03185:Pira13
|
APN |
7 |
3,826,229 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03212:Pira13
|
APN |
7 |
3,826,132 (GRCm39) |
missense |
probably benign |
0.00 |
R0347:Pira13
|
UTSW |
7 |
3,825,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R0652:Pira13
|
UTSW |
7 |
3,825,762 (GRCm39) |
missense |
probably benign |
0.02 |
R0668:Pira13
|
UTSW |
7 |
3,825,699 (GRCm39) |
missense |
probably damaging |
0.99 |
R0724:Pira13
|
UTSW |
7 |
3,819,871 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0735:Pira13
|
UTSW |
7 |
3,824,781 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1074:Pira13
|
UTSW |
7 |
3,826,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R1339:Pira13
|
UTSW |
7 |
3,825,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R1541:Pira13
|
UTSW |
7 |
3,819,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R1570:Pira13
|
UTSW |
7 |
3,826,060 (GRCm39) |
missense |
probably benign |
0.45 |
R1880:Pira13
|
UTSW |
7 |
3,827,950 (GRCm39) |
critical splice donor site |
probably null |
|
R1892:Pira13
|
UTSW |
7 |
3,827,573 (GRCm39) |
missense |
probably benign |
0.15 |
R1909:Pira13
|
UTSW |
7 |
3,825,918 (GRCm39) |
missense |
probably benign |
0.31 |
R2881:Pira13
|
UTSW |
7 |
3,828,640 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R2967:Pira13
|
UTSW |
7 |
3,825,686 (GRCm39) |
missense |
probably damaging |
1.00 |
R2983:Pira13
|
UTSW |
7 |
3,824,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R4213:Pira13
|
UTSW |
7 |
3,824,553 (GRCm39) |
missense |
probably damaging |
1.00 |
R4319:Pira13
|
UTSW |
7 |
3,825,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4320:Pira13
|
UTSW |
7 |
3,825,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4321:Pira13
|
UTSW |
7 |
3,825,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4322:Pira13
|
UTSW |
7 |
3,825,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4323:Pira13
|
UTSW |
7 |
3,825,754 (GRCm39) |
missense |
possibly damaging |
0.46 |
R4536:Pira13
|
UTSW |
7 |
3,825,251 (GRCm39) |
missense |
probably benign |
0.00 |
R4597:Pira13
|
UTSW |
7 |
3,825,154 (GRCm39) |
missense |
possibly damaging |
0.81 |
R4713:Pira13
|
UTSW |
7 |
3,825,680 (GRCm39) |
nonsense |
probably null |
|
R4725:Pira13
|
UTSW |
7 |
3,824,547 (GRCm39) |
missense |
probably benign |
|
R4934:Pira13
|
UTSW |
7 |
3,825,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R4971:Pira13
|
UTSW |
7 |
3,825,805 (GRCm39) |
missense |
probably benign |
0.00 |
R5138:Pira13
|
UTSW |
7 |
3,827,556 (GRCm39) |
nonsense |
probably null |
|
R5805:Pira13
|
UTSW |
7 |
3,825,622 (GRCm39) |
missense |
probably benign |
0.15 |
R5824:Pira13
|
UTSW |
7 |
3,827,753 (GRCm39) |
missense |
probably damaging |
1.00 |
R5841:Pira13
|
UTSW |
7 |
3,825,898 (GRCm39) |
nonsense |
probably null |
|
R6027:Pira13
|
UTSW |
7 |
3,827,638 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6214:Pira13
|
UTSW |
7 |
3,824,717 (GRCm39) |
missense |
probably damaging |
0.99 |
R6329:Pira13
|
UTSW |
7 |
3,825,850 (GRCm39) |
missense |
probably damaging |
1.00 |
R6429:Pira13
|
UTSW |
7 |
3,825,345 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6650:Pira13
|
UTSW |
7 |
3,819,898 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6681:Pira13
|
UTSW |
7 |
3,825,251 (GRCm39) |
missense |
probably benign |
0.00 |
R6961:Pira13
|
UTSW |
7 |
3,828,124 (GRCm39) |
missense |
probably damaging |
1.00 |
R6989:Pira13
|
UTSW |
7 |
3,825,163 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7025:Pira13
|
UTSW |
7 |
3,824,261 (GRCm39) |
nonsense |
probably null |
|
R7071:Pira13
|
UTSW |
7 |
3,824,667 (GRCm39) |
missense |
unknown |
|
R7194:Pira13
|
UTSW |
7 |
3,827,792 (GRCm39) |
missense |
|
|
R7215:Pira13
|
UTSW |
7 |
3,825,310 (GRCm39) |
missense |
unknown |
|
R7580:Pira13
|
UTSW |
7 |
3,827,611 (GRCm39) |
missense |
unknown |
|
R7776:Pira13
|
UTSW |
7 |
3,826,246 (GRCm39) |
missense |
unknown |
|
R7863:Pira13
|
UTSW |
7 |
3,827,801 (GRCm39) |
critical splice acceptor site |
probably null |
|
R7909:Pira13
|
UTSW |
7 |
3,824,708 (GRCm39) |
missense |
unknown |
|
R8131:Pira13
|
UTSW |
7 |
3,825,161 (GRCm39) |
nonsense |
probably null |
|
R8178:Pira13
|
UTSW |
7 |
3,824,260 (GRCm39) |
missense |
unknown |
|
R8188:Pira13
|
UTSW |
7 |
3,826,126 (GRCm39) |
missense |
unknown |
|
R8220:Pira13
|
UTSW |
7 |
3,825,903 (GRCm39) |
missense |
unknown |
|
R8226:Pira13
|
UTSW |
7 |
3,828,109 (GRCm39) |
missense |
|
|
R8441:Pira13
|
UTSW |
7 |
3,826,301 (GRCm39) |
nonsense |
probably null |
|
R8739:Pira13
|
UTSW |
7 |
3,828,188 (GRCm39) |
missense |
|
|
R8785:Pira13
|
UTSW |
7 |
3,819,928 (GRCm39) |
missense |
unknown |
|
R8912:Pira13
|
UTSW |
7 |
3,825,818 (GRCm39) |
missense |
unknown |
|
R8941:Pira13
|
UTSW |
7 |
3,825,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R8990:Pira13
|
UTSW |
7 |
3,824,273 (GRCm39) |
missense |
unknown |
|
R9049:Pira13
|
UTSW |
7 |
3,819,890 (GRCm39) |
missense |
unknown |
|
R9090:Pira13
|
UTSW |
7 |
3,819,997 (GRCm39) |
missense |
unknown |
|
R9134:Pira13
|
UTSW |
7 |
3,825,182 (GRCm39) |
missense |
|
|
R9136:Pira13
|
UTSW |
7 |
3,826,285 (GRCm39) |
missense |
|
|
R9244:Pira13
|
UTSW |
7 |
3,825,226 (GRCm39) |
missense |
unknown |
|
R9271:Pira13
|
UTSW |
7 |
3,819,997 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGAATCACTGTTTCCTGTGCTC -3'
(R):5'- AGCCCAGTGGTAACTTCAGG -3'
Sequencing Primer
(F):5'- CTCTGTGTCAACGTTCAAAAGAGC -3'
(R):5'- GTAACTTCAGGAGGGTATGTCAC -3'
|
Posted On |
2022-04-18 |