Incidental Mutation 'IGL01121:Rprd2'
ID |
50765 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rprd2
|
Ensembl Gene |
ENSMUSG00000028106 |
Gene Name |
regulation of nuclear pre-mRNA domain containing 2 |
Synonyms |
2810036A19Rik, 6720469I21Rik, 4930535B03Rik |
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.745)
|
Stock # |
IGL01121
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
95667653-95726175 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 95683862 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 373
(L373P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000143240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090791]
[ENSMUST00000197449]
|
AlphaFold |
Q6NXI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090791
AA Change: L391P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000088297 Gene: ENSMUSG00000028106 AA Change: L391P
Domain | Start | End | E-Value | Type |
RPR
|
26 |
146 |
3.6e-29 |
SMART |
Pfam:CREPT
|
210 |
351 |
9.3e-11 |
PFAM |
low complexity region
|
431 |
465 |
N/A |
INTRINSIC |
low complexity region
|
576 |
591 |
N/A |
INTRINSIC |
low complexity region
|
612 |
633 |
N/A |
INTRINSIC |
low complexity region
|
670 |
686 |
N/A |
INTRINSIC |
low complexity region
|
777 |
793 |
N/A |
INTRINSIC |
low complexity region
|
1159 |
1179 |
N/A |
INTRINSIC |
low complexity region
|
1195 |
1208 |
N/A |
INTRINSIC |
low complexity region
|
1230 |
1238 |
N/A |
INTRINSIC |
low complexity region
|
1272 |
1295 |
N/A |
INTRINSIC |
low complexity region
|
1300 |
1323 |
N/A |
INTRINSIC |
low complexity region
|
1373 |
1409 |
N/A |
INTRINSIC |
low complexity region
|
1446 |
1467 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000197449
AA Change: L373P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000143240 Gene: ENSMUSG00000028106 AA Change: L373P
Domain | Start | End | E-Value | Type |
RPR
|
26 |
146 |
3.2e-32 |
SMART |
coiled coil region
|
288 |
313 |
N/A |
INTRINSIC |
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
low complexity region
|
413 |
447 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198740
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199308
|
Predicted Effect |
unknown
Transcript: ENSMUST00000200164
AA Change: L307P
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200428
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700046A07Rik |
G |
A |
18: 62,888,219 (GRCm39) |
|
noncoding transcript |
Het |
4930432E11Rik |
A |
T |
7: 29,273,426 (GRCm39) |
|
noncoding transcript |
Het |
Alg3 |
T |
C |
16: 20,429,397 (GRCm39) |
E31G |
probably damaging |
Het |
Arhgap29 |
A |
G |
3: 121,803,512 (GRCm39) |
E764G |
probably damaging |
Het |
Atp5mf |
C |
A |
5: 145,121,378 (GRCm39) |
V68L |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,938,033 (GRCm39) |
I2645K |
probably benign |
Het |
Capn11 |
A |
G |
17: 45,950,058 (GRCm39) |
S369P |
probably benign |
Het |
Car4 |
A |
T |
11: 84,855,172 (GRCm39) |
|
probably null |
Het |
Ccdc185 |
C |
T |
1: 182,576,222 (GRCm39) |
V156I |
probably benign |
Het |
Cpsf2 |
G |
T |
12: 101,954,965 (GRCm39) |
E245D |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 118,014,430 (GRCm39) |
D2019G |
probably benign |
Het |
Dscc1 |
A |
G |
15: 54,945,721 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
T |
C |
16: 48,765,244 (GRCm39) |
D490G |
probably benign |
Het |
E2f8 |
G |
A |
7: 48,517,569 (GRCm39) |
Q745* |
probably null |
Het |
Fat3 |
T |
A |
9: 15,909,697 (GRCm39) |
T2102S |
probably benign |
Het |
Fgf7 |
C |
T |
2: 125,930,152 (GRCm39) |
|
probably benign |
Het |
Fstl4 |
T |
C |
11: 52,705,464 (GRCm39) |
F47L |
probably benign |
Het |
Gm15097 |
A |
T |
X: 148,587,324 (GRCm39) |
R129S |
possibly damaging |
Het |
Gm4297 |
C |
T |
X: 24,418,854 (GRCm39) |
D200N |
probably benign |
Het |
Itgb5 |
G |
T |
16: 33,740,359 (GRCm39) |
D490Y |
probably benign |
Het |
Kansl1 |
A |
G |
11: 104,226,422 (GRCm39) |
S912P |
probably benign |
Het |
Kcnq3 |
A |
T |
15: 65,877,826 (GRCm39) |
|
probably benign |
Het |
Kctd6 |
A |
G |
14: 8,222,656 (GRCm38) |
H166R |
possibly damaging |
Het |
Kel |
T |
C |
6: 41,679,343 (GRCm39) |
D140G |
probably benign |
Het |
Lrif1 |
C |
A |
3: 106,642,980 (GRCm39) |
S177* |
probably null |
Het |
Lrp1 |
A |
T |
10: 127,419,722 (GRCm39) |
C962* |
probably null |
Het |
Lypd5 |
A |
T |
7: 24,050,976 (GRCm39) |
Y29F |
probably benign |
Het |
Mmrn1 |
A |
G |
6: 60,952,928 (GRCm39) |
D403G |
possibly damaging |
Het |
Nhsl1 |
T |
G |
10: 18,387,458 (GRCm39) |
V244G |
probably damaging |
Het |
Or6c35 |
T |
C |
10: 129,168,804 (GRCm39) |
I18T |
probably benign |
Het |
Ptprd |
A |
T |
4: 75,872,438 (GRCm39) |
|
probably benign |
Het |
Rcan2 |
A |
T |
17: 44,328,775 (GRCm39) |
I69L |
probably damaging |
Het |
Slc10a4 |
T |
C |
5: 73,164,929 (GRCm39) |
C174R |
probably damaging |
Het |
Tas2r134 |
C |
T |
2: 51,518,001 (GRCm39) |
T160I |
probably damaging |
Het |
Tbc1d19 |
T |
A |
5: 54,054,404 (GRCm39) |
L464* |
probably null |
Het |
Tmem45a2 |
C |
T |
16: 56,861,153 (GRCm39) |
D225N |
possibly damaging |
Het |
Unc79 |
G |
A |
12: 103,131,890 (GRCm39) |
C2139Y |
probably damaging |
Het |
Vmn2r101 |
G |
T |
17: 19,809,936 (GRCm39) |
G241C |
probably damaging |
Het |
Vmn2r91 |
T |
C |
17: 18,356,766 (GRCm39) |
V811A |
possibly damaging |
Het |
Wdr11 |
T |
C |
7: 129,229,746 (GRCm39) |
Y844H |
probably benign |
Het |
Wdr70 |
T |
C |
15: 7,902,655 (GRCm39) |
K656E |
possibly damaging |
Het |
Zfp579 |
C |
A |
7: 4,996,246 (GRCm39) |
C555F |
possibly damaging |
Het |
|
Other mutations in Rprd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00766:Rprd2
|
APN |
3 |
95,672,691 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL00773:Rprd2
|
APN |
3 |
95,672,421 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00792:Rprd2
|
APN |
3 |
95,692,416 (GRCm39) |
missense |
probably benign |
0.05 |
IGL01022:Rprd2
|
APN |
3 |
95,671,066 (GRCm39) |
nonsense |
probably null |
|
IGL01299:Rprd2
|
APN |
3 |
95,683,859 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01387:Rprd2
|
APN |
3 |
95,672,631 (GRCm39) |
missense |
probably benign |
|
IGL01414:Rprd2
|
APN |
3 |
95,672,837 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02283:Rprd2
|
APN |
3 |
95,672,815 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02336:Rprd2
|
APN |
3 |
95,694,622 (GRCm39) |
missense |
probably benign |
0.17 |
R0131:Rprd2
|
UTSW |
3 |
95,681,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R0131:Rprd2
|
UTSW |
3 |
95,681,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R0132:Rprd2
|
UTSW |
3 |
95,681,673 (GRCm39) |
missense |
probably damaging |
1.00 |
R0574:Rprd2
|
UTSW |
3 |
95,681,669 (GRCm39) |
missense |
possibly damaging |
0.58 |
R0718:Rprd2
|
UTSW |
3 |
95,673,699 (GRCm39) |
missense |
probably benign |
0.30 |
R0847:Rprd2
|
UTSW |
3 |
95,672,725 (GRCm39) |
missense |
probably benign |
0.00 |
R0942:Rprd2
|
UTSW |
3 |
95,672,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R0943:Rprd2
|
UTSW |
3 |
95,691,559 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0980:Rprd2
|
UTSW |
3 |
95,673,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R1448:Rprd2
|
UTSW |
3 |
95,725,888 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1542:Rprd2
|
UTSW |
3 |
95,672,988 (GRCm39) |
missense |
possibly damaging |
0.69 |
R1577:Rprd2
|
UTSW |
3 |
95,672,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R1598:Rprd2
|
UTSW |
3 |
95,726,051 (GRCm39) |
unclassified |
probably benign |
|
R1640:Rprd2
|
UTSW |
3 |
95,671,059 (GRCm39) |
unclassified |
probably benign |
|
R1670:Rprd2
|
UTSW |
3 |
95,672,115 (GRCm39) |
missense |
probably damaging |
1.00 |
R2430:Rprd2
|
UTSW |
3 |
95,672,107 (GRCm39) |
nonsense |
probably null |
|
R2966:Rprd2
|
UTSW |
3 |
95,673,745 (GRCm39) |
splice site |
probably null |
|
R3612:Rprd2
|
UTSW |
3 |
95,671,464 (GRCm39) |
missense |
probably damaging |
0.98 |
R3712:Rprd2
|
UTSW |
3 |
95,671,872 (GRCm39) |
missense |
probably damaging |
0.97 |
R3890:Rprd2
|
UTSW |
3 |
95,672,536 (GRCm39) |
missense |
probably damaging |
1.00 |
R4777:Rprd2
|
UTSW |
3 |
95,694,686 (GRCm39) |
missense |
probably benign |
0.41 |
R4783:Rprd2
|
UTSW |
3 |
95,681,645 (GRCm39) |
missense |
probably benign |
0.03 |
R4832:Rprd2
|
UTSW |
3 |
95,681,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R4928:Rprd2
|
UTSW |
3 |
95,671,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R4976:Rprd2
|
UTSW |
3 |
95,673,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R4989:Rprd2
|
UTSW |
3 |
95,672,632 (GRCm39) |
missense |
probably benign |
0.03 |
R5134:Rprd2
|
UTSW |
3 |
95,672,632 (GRCm39) |
missense |
probably benign |
0.03 |
R5244:Rprd2
|
UTSW |
3 |
95,697,494 (GRCm39) |
missense |
possibly damaging |
0.80 |
R5314:Rprd2
|
UTSW |
3 |
95,671,401 (GRCm39) |
missense |
possibly damaging |
0.53 |
R5579:Rprd2
|
UTSW |
3 |
95,692,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R5954:Rprd2
|
UTSW |
3 |
95,672,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R6016:Rprd2
|
UTSW |
3 |
95,694,685 (GRCm39) |
missense |
probably damaging |
0.97 |
R6332:Rprd2
|
UTSW |
3 |
95,687,753 (GRCm39) |
missense |
probably damaging |
0.99 |
R6403:Rprd2
|
UTSW |
3 |
95,673,399 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6415:Rprd2
|
UTSW |
3 |
95,681,531 (GRCm39) |
missense |
probably benign |
0.00 |
R7064:Rprd2
|
UTSW |
3 |
95,672,328 (GRCm39) |
missense |
probably damaging |
1.00 |
R7313:Rprd2
|
UTSW |
3 |
95,684,022 (GRCm39) |
missense |
probably damaging |
1.00 |
R7496:Rprd2
|
UTSW |
3 |
95,673,087 (GRCm39) |
missense |
probably damaging |
1.00 |
R7535:Rprd2
|
UTSW |
3 |
95,683,899 (GRCm39) |
missense |
probably damaging |
0.96 |
R8716:Rprd2
|
UTSW |
3 |
95,684,105 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Rprd2
|
UTSW |
3 |
95,691,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R8891:Rprd2
|
UTSW |
3 |
95,671,367 (GRCm39) |
missense |
possibly damaging |
0.85 |
R8922:Rprd2
|
UTSW |
3 |
95,687,896 (GRCm39) |
missense |
probably damaging |
0.99 |
R9030:Rprd2
|
UTSW |
3 |
95,691,622 (GRCm39) |
missense |
probably benign |
0.15 |
R9623:Rprd2
|
UTSW |
3 |
95,679,505 (GRCm39) |
missense |
probably benign |
0.30 |
RF034:Rprd2
|
UTSW |
3 |
95,673,632 (GRCm39) |
small deletion |
probably benign |
|
RF056:Rprd2
|
UTSW |
3 |
95,673,631 (GRCm39) |
small deletion |
probably benign |
|
|
Posted On |
2013-06-21 |