Incidental Mutation 'R0942:Rprd2'
ID |
82743 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rprd2
|
Ensembl Gene |
ENSMUSG00000028106 |
Gene Name |
regulation of nuclear pre-mRNA domain containing 2 |
Synonyms |
2810036A19Rik, 6720469I21Rik, 4930535B03Rik |
MMRRC Submission |
039081-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.745)
|
Stock # |
R0942 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
95667653-95726175 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 95672730 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 891
(I891N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088297
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090791]
|
AlphaFold |
Q6NXI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090791
AA Change: I891N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000088297 Gene: ENSMUSG00000028106 AA Change: I891N
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 |
unknown
Transcript: ENSMUST00000200164
AA Change: I807N
|
Meta Mutation Damage Score |
0.0830 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
95% (40/42) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810064F22Rik |
C |
T |
9: 22,119,367 (GRCm39) |
|
noncoding transcript |
Het |
Aass |
C |
T |
6: 23,075,151 (GRCm39) |
|
probably benign |
Het |
Abcb5 |
C |
A |
12: 118,869,933 (GRCm39) |
V742F |
possibly damaging |
Het |
Abcd4 |
A |
G |
12: 84,659,602 (GRCm39) |
I165T |
probably damaging |
Het |
Acer3 |
T |
C |
7: 97,906,949 (GRCm39) |
Y119C |
probably damaging |
Het |
Ap3d1 |
A |
T |
10: 80,568,789 (GRCm39) |
|
probably benign |
Het |
Ascc2 |
T |
A |
11: 4,618,380 (GRCm39) |
I325N |
probably benign |
Het |
Atad2b |
T |
A |
12: 5,074,591 (GRCm39) |
I1050N |
probably damaging |
Het |
Brms1l |
T |
C |
12: 55,912,742 (GRCm39) |
V245A |
probably benign |
Het |
Cadps2 |
T |
A |
6: 23,263,561 (GRCm39) |
D1270V |
probably damaging |
Het |
Cdh23 |
A |
T |
10: 60,246,639 (GRCm39) |
M936K |
possibly damaging |
Het |
Cenpj |
A |
G |
14: 56,792,666 (GRCm39) |
|
probably benign |
Het |
Dner |
T |
C |
1: 84,563,030 (GRCm39) |
|
probably benign |
Het |
Dzip1 |
T |
A |
14: 119,124,609 (GRCm39) |
R555* |
probably null |
Het |
Enpp4 |
A |
T |
17: 44,412,772 (GRCm39) |
L254* |
probably null |
Het |
Erich3 |
T |
A |
3: 154,444,788 (GRCm39) |
D518E |
probably benign |
Het |
Gli2 |
G |
A |
1: 118,765,236 (GRCm39) |
R972C |
probably damaging |
Het |
Gpc1 |
G |
A |
1: 92,785,031 (GRCm39) |
R358H |
possibly damaging |
Het |
Grb7 |
T |
C |
11: 98,344,634 (GRCm39) |
Y346H |
probably damaging |
Het |
Heg1 |
T |
C |
16: 33,581,173 (GRCm39) |
L1192P |
probably damaging |
Het |
Il16 |
T |
A |
7: 83,312,349 (GRCm39) |
Q445L |
probably benign |
Het |
Il17d |
C |
T |
14: 57,779,777 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,520,301 (GRCm39) |
N1936K |
probably benign |
Het |
Lrrc45 |
T |
C |
11: 120,609,064 (GRCm39) |
|
probably benign |
Het |
Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
Mphosph9 |
T |
A |
5: 124,400,100 (GRCm39) |
R934* |
probably null |
Het |
Nek11 |
T |
A |
9: 105,172,570 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
C |
11: 79,329,537 (GRCm39) |
S634P |
probably benign |
Het |
Or14c40 |
T |
A |
7: 86,313,314 (GRCm39) |
M148K |
probably damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,396,355 (GRCm39) |
V1959A |
probably benign |
Het |
Pkp2 |
G |
T |
16: 16,043,894 (GRCm39) |
G216V |
probably benign |
Het |
Ppp1r16a |
T |
C |
15: 76,578,211 (GRCm39) |
L394P |
probably damaging |
Het |
Ptprc |
G |
A |
1: 137,996,139 (GRCm39) |
Q1070* |
probably null |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Speer1e |
A |
T |
5: 11,236,488 (GRCm39) |
T174S |
probably benign |
Het |
Taf15 |
T |
C |
11: 83,389,932 (GRCm39) |
I40T |
probably damaging |
Het |
Tshz1 |
A |
G |
18: 84,031,178 (GRCm39) |
Y1077H |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,693,833 (GRCm39) |
E223G |
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 |
|
IGL01121:Rprd2
|
APN |
3 |
95,683,862 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGATGCCCAGCAGTAGACTGAGAC -3'
(R):5'- AAGCAGCCTTCTGGTGGAGTTGAG -3'
Sequencing Primer
(F):5'- ACAAGCCACTGTGGTTGG -3'
(R):5'- ATCACTGATGGACTCTTCACAGG -3'
|
Posted On |
2013-11-08 |