Incidental Mutation 'R9244:Pira13'
ID |
701152 |
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: 0.052)
|
Stock # |
R9244 (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 C
at 3825226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 472
(D472G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121707
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094911]
[ENSMUST00000108619]
[ENSMUST00000108620]
[ENSMUST00000153846]
[ENSMUST00000189095]
|
AlphaFold |
F6PZL4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000094911
|
SMART Domains |
Protein: ENSMUSP00000092515 Gene: ENSMUSG00000074419
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: D472G
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 benign
Transcript: ENSMUST00000108620
|
SMART Domains |
Protein: ENSMUSP00000104260 Gene: ENSMUSG00000074419
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: D472G
|
SMART Domains |
Protein: ENSMUSP00000121707 Gene: ENSMUSG00000074419 AA Change: D472G
Domain | Start | End | E-Value | Type |
IG
|
7 |
96 |
8.01e-3 |
SMART |
low complexity region
|
132 |
141 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189095
AA Change: D472G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000140974 Gene: ENSMUSG00000074419 AA Change: D472G
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
G |
11: 9,241,577 (GRCm39) |
I1147V |
probably benign |
Het |
Adcy10 |
A |
G |
1: 165,370,679 (GRCm39) |
T653A |
probably benign |
Het |
App |
A |
G |
16: 84,759,629 (GRCm39) |
I656T |
probably damaging |
Het |
Arnt |
T |
A |
3: 95,397,879 (GRCm39) |
I574N |
possibly damaging |
Het |
Cdc42 |
T |
C |
4: 137,056,391 (GRCm39) |
T75A |
probably benign |
Het |
Cdh23 |
C |
A |
10: 60,249,442 (GRCm39) |
K822N |
possibly damaging |
Het |
Chrnb3 |
T |
A |
8: 27,884,594 (GRCm39) |
L444I |
unknown |
Het |
Ctnnbl1 |
G |
T |
2: 157,678,583 (GRCm39) |
K395N |
possibly damaging |
Het |
Dmxl1 |
T |
A |
18: 50,026,316 (GRCm39) |
I1808K |
probably benign |
Het |
Dnajb8 |
C |
A |
6: 88,199,884 (GRCm39) |
P140Q |
probably damaging |
Het |
Dock5 |
G |
A |
14: 67,996,563 (GRCm39) |
R1727W |
probably damaging |
Het |
Dscam |
G |
A |
16: 96,486,429 (GRCm39) |
T1082I |
possibly damaging |
Het |
Eaf1 |
T |
C |
14: 31,219,766 (GRCm39) |
|
probably benign |
Het |
Elapor2 |
A |
G |
5: 9,460,700 (GRCm39) |
Y207C |
probably damaging |
Het |
Enpp3 |
T |
C |
10: 24,654,689 (GRCm39) |
D663G |
probably damaging |
Het |
Epha5 |
A |
G |
5: 84,265,441 (GRCm39) |
V451A |
probably benign |
Het |
Erap1 |
G |
A |
13: 74,821,903 (GRCm39) |
|
probably null |
Het |
Esco2 |
A |
G |
14: 66,059,088 (GRCm39) |
W530R |
probably damaging |
Het |
Fhip1b |
A |
G |
7: 105,038,870 (GRCm39) |
V123A |
possibly damaging |
Het |
Fhod3 |
T |
C |
18: 25,248,922 (GRCm39) |
I1367T |
probably damaging |
Het |
Fryl |
T |
C |
5: 73,348,862 (GRCm39) |
|
probably benign |
Het |
Get1 |
A |
G |
16: 95,955,383 (GRCm39) |
T147A |
probably benign |
Het |
Gm42669 |
A |
G |
5: 107,656,370 (GRCm39) |
T295A |
possibly damaging |
Het |
Harbi1 |
A |
G |
2: 91,543,040 (GRCm39) |
N167S |
probably damaging |
Het |
Hfm1 |
A |
C |
5: 107,022,766 (GRCm39) |
N945K |
probably damaging |
Het |
Hook3 |
A |
G |
8: 26,561,084 (GRCm39) |
|
probably null |
Het |
Htr1f |
G |
T |
16: 64,746,857 (GRCm39) |
T145K |
probably benign |
Het |
Igf2bp2 |
A |
C |
16: 21,886,901 (GRCm39) |
S453A |
possibly damaging |
Het |
Ipo4 |
A |
T |
14: 55,871,799 (GRCm39) |
W116R |
probably damaging |
Het |
Jak1 |
T |
C |
4: 101,015,040 (GRCm39) |
H917R |
probably benign |
Het |
Klrb1b |
A |
T |
6: 128,792,245 (GRCm39) |
C189* |
probably null |
Het |
Lrrn2 |
A |
G |
1: 132,865,058 (GRCm39) |
Y41C |
probably damaging |
Het |
Lrrn2 |
T |
C |
1: 132,865,237 (GRCm39) |
S101P |
probably damaging |
Het |
Mcmdc2 |
C |
T |
1: 9,985,835 (GRCm39) |
T127I |
probably damaging |
Het |
Mtch1 |
C |
A |
17: 29,566,626 (GRCm39) |
A46S |
unknown |
Het |
Ndufb5 |
C |
A |
3: 32,795,906 (GRCm39) |
Q33K |
probably null |
Het |
Nufip2 |
T |
C |
11: 77,583,475 (GRCm39) |
V463A |
probably damaging |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or2r3 |
T |
A |
6: 42,448,537 (GRCm39) |
I192F |
possibly damaging |
Het |
Or5p62 |
A |
G |
7: 107,771,852 (GRCm39) |
I33T |
probably benign |
Het |
Or6d12 |
G |
A |
6: 116,492,782 (GRCm39) |
V15I |
probably benign |
Het |
Or8j3c |
A |
T |
2: 86,253,423 (GRCm39) |
V199E |
probably damaging |
Het |
Ppip5k1 |
A |
C |
2: 121,164,932 (GRCm39) |
S972A |
probably benign |
Het |
Prl8a2 |
A |
T |
13: 27,534,982 (GRCm39) |
M86L |
probably benign |
Het |
Prorsd1 |
T |
C |
11: 29,463,271 (GRCm39) |
I164V |
probably benign |
Het |
Ptgs1 |
A |
G |
2: 36,130,724 (GRCm39) |
T208A |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,254,915 (GRCm39) |
|
probably null |
Het |
Reln |
T |
C |
5: 22,120,151 (GRCm39) |
R2834G |
probably damaging |
Het |
Shc4 |
G |
T |
2: 125,497,589 (GRCm39) |
Y373* |
probably null |
Het |
Skor1 |
A |
T |
9: 63,049,524 (GRCm39) |
|
probably null |
Het |
Slc9a4 |
T |
C |
1: 40,658,249 (GRCm39) |
S591P |
probably damaging |
Het |
Stat2 |
A |
G |
10: 128,118,634 (GRCm39) |
E389G |
possibly damaging |
Het |
Trav14n-3 |
C |
A |
14: 53,608,004 (GRCm39) |
D111E |
probably damaging |
Het |
Unc5c |
A |
G |
3: 141,533,370 (GRCm39) |
S873G |
probably benign |
Het |
Vmn1r210 |
T |
C |
13: 23,012,089 (GRCm39) |
I66V |
probably benign |
Het |
Vmn2r117 |
T |
A |
17: 23,696,589 (GRCm39) |
I273F |
probably damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,672,189 (GRCm39) |
M714K |
possibly damaging |
Het |
Zfp235 |
A |
G |
7: 23,839,919 (GRCm39) |
T113A |
probably benign |
Het |
Zranb1 |
T |
G |
7: 132,585,640 (GRCm39) |
L696R |
probably 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 |
|
|
R9271:Pira13
|
UTSW |
7 |
3,819,997 (GRCm39) |
missense |
unknown |
|
R9328:Pira13
|
UTSW |
7 |
3,827,580 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGACAGAGTCTGTTAAGC -3'
(R):5'- TCGAACACAGCCCTGATTGG -3'
Sequencing Primer
(F):5'- GTTAAGCTACTCACCTGGGATCAG -3'
(R):5'- AAACCTCAGTCTCTAGCTGTCAC -3'
|
Posted On |
2022-03-25 |