Incidental Mutation 'R0132:Rprd2'
| ID |
21677 |
| 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 |
038417-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.733)
|
| Stock # |
R0132 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
3 |
| Chromosomal Location |
95667653-95726175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 95681673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 407
(K407E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088297
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090791]
[ENSMUST00000197449]
|
| AlphaFold |
Q6NXI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090791
AA Change: K407E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: K407E
| 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 |
possibly damaging
Transcript: ENSMUST00000197449
AA Change: K389E
PolyPhen 2
Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: K389E
| 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 |
unknown
Transcript: ENSMUST00000200164
AA Change: K323E
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200428
|
| Meta Mutation Damage Score |
0.0718 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.9%
- 10x: 94.2%
- 20x: 84.8%
|
| Validation Efficiency |
90% (52/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
A |
G |
8: 87,258,197 (GRCm39) |
I773T |
probably benign |
Het |
| Adamtsl1 |
T |
A |
4: 86,260,960 (GRCm39) |
I1057N |
possibly damaging |
Het |
| Anxa5 |
G |
A |
3: 36,504,821 (GRCm39) |
A247V |
probably damaging |
Het |
| Ascc3 |
T |
G |
10: 50,611,425 (GRCm39) |
W1589G |
probably damaging |
Het |
| Atp2b2 |
G |
A |
6: 113,770,743 (GRCm39) |
P389S |
probably damaging |
Het |
| Bpifa6 |
T |
A |
2: 153,824,851 (GRCm39) |
S9T |
probably benign |
Het |
| Cfhr4 |
T |
A |
1: 139,682,009 (GRCm39) |
T196S |
probably damaging |
Het |
| Chd8 |
A |
G |
14: 52,442,783 (GRCm39) |
V589A |
probably benign |
Het |
| Chrnb2 |
T |
C |
3: 89,671,713 (GRCm39) |
M1V |
probably null |
Het |
| Col16a1 |
T |
A |
4: 129,960,889 (GRCm39) |
V449E |
unknown |
Het |
| Cttnbp2nl |
T |
G |
3: 104,913,173 (GRCm39) |
K237T |
probably damaging |
Het |
| Dazap1 |
T |
G |
10: 80,114,060 (GRCm39) |
|
probably null |
Het |
| Fam187b |
T |
A |
7: 30,688,545 (GRCm39) |
V22E |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,837,040 (GRCm39) |
R320G |
probably damaging |
Het |
| H2-T24 |
T |
A |
17: 36,325,878 (GRCm39) |
I238F |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,471,087 (GRCm39) |
E2658G |
probably benign |
Het |
| Herc1 |
A |
C |
9: 66,388,192 (GRCm39) |
I3826L |
probably benign |
Het |
| Hinfp |
A |
G |
9: 44,211,060 (GRCm39) |
C67R |
probably damaging |
Het |
| Hp1bp3 |
C |
T |
4: 137,964,520 (GRCm39) |
S348F |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,279,198 (GRCm39) |
Y3094H |
probably damaging |
Het |
| Htr1f |
A |
G |
16: 64,747,091 (GRCm39) |
V67A |
probably damaging |
Het |
| Iqcc |
T |
G |
4: 129,510,392 (GRCm39) |
E374D |
probably damaging |
Het |
| Kcnj9 |
T |
C |
1: 172,153,765 (GRCm39) |
T120A |
probably damaging |
Het |
| Kitl |
C |
T |
10: 99,923,226 (GRCm39) |
P208S |
probably benign |
Het |
| Lpcat4 |
A |
G |
2: 112,077,093 (GRCm39) |
Y479C |
probably damaging |
Het |
| Lrrc74b |
T |
C |
16: 17,371,016 (GRCm39) |
N227S |
probably damaging |
Het |
| Mdc1 |
T |
A |
17: 36,163,473 (GRCm39) |
V1007D |
probably damaging |
Het |
| Mocos |
T |
G |
18: 24,812,819 (GRCm39) |
I571S |
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,183,014 (GRCm39) |
N659D |
probably damaging |
Het |
| Naip2 |
A |
G |
13: 100,320,296 (GRCm39) |
V240A |
probably benign |
Het |
| Nap1l1 |
T |
C |
10: 111,321,370 (GRCm39) |
S37P |
probably benign |
Het |
| Nin |
T |
G |
12: 70,097,915 (GRCm39) |
K515T |
probably damaging |
Het |
| Npl |
T |
A |
1: 153,384,864 (GRCm39) |
K258* |
probably null |
Het |
| Ntn4 |
T |
A |
10: 93,480,569 (GRCm39) |
S98T |
possibly damaging |
Het |
| Or10x1 |
T |
C |
1: 174,197,152 (GRCm39) |
V223A |
probably damaging |
Het |
| Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
| Or5k14 |
C |
A |
16: 58,693,269 (GRCm39) |
M81I |
probably benign |
Het |
| Ppox |
C |
A |
1: 171,106,849 (GRCm39) |
A192S |
possibly damaging |
Het |
| Prkdc |
T |
C |
16: 15,531,517 (GRCm39) |
L1380S |
probably benign |
Het |
| Psd4 |
C |
A |
2: 24,295,363 (GRCm39) |
A839E |
probably damaging |
Het |
| Ptprn2 |
T |
G |
12: 116,685,711 (GRCm39) |
F57V |
probably damaging |
Het |
| Ptprt |
C |
T |
2: 162,120,030 (GRCm39) |
V146I |
probably benign |
Het |
| R3hdm2 |
T |
A |
10: 127,334,322 (GRCm39) |
M915K |
probably damaging |
Het |
| Rab26 |
C |
T |
17: 24,749,759 (GRCm39) |
|
probably null |
Het |
| Rnf213 |
A |
G |
11: 119,321,187 (GRCm39) |
E1215G |
probably benign |
Het |
| Siah3 |
G |
A |
14: 75,693,574 (GRCm39) |
V27I |
possibly damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,235,338 (GRCm39) |
N280Y |
probably damaging |
Het |
| Slc25a35 |
A |
G |
11: 68,862,786 (GRCm39) |
Y247C |
probably damaging |
Het |
| Slc29a4 |
A |
G |
5: 142,691,285 (GRCm39) |
D55G |
probably benign |
Het |
| Slc35d1 |
C |
T |
4: 103,065,378 (GRCm39) |
V189I |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,067,884 (GRCm39) |
R322* |
probably null |
Het |
| Stac3 |
A |
T |
10: 127,339,519 (GRCm39) |
R138S |
probably damaging |
Het |
| Tmem260 |
T |
A |
14: 48,720,779 (GRCm39) |
C306* |
probably null |
Het |
| Tspyl1 |
A |
G |
10: 34,159,085 (GRCm39) |
N270S |
probably damaging |
Het |
| Ugt2a2 |
T |
A |
5: 87,622,720 (GRCm39) |
K293* |
probably null |
Het |
| Vmn2r102 |
A |
C |
17: 19,899,025 (GRCm39) |
T456P |
probably benign |
Het |
| Vmn2r90 |
T |
A |
17: 17,932,511 (GRCm39) |
S139R |
probably benign |
Het |
| Zmym2 |
A |
G |
14: 57,180,715 (GRCm39) |
N876D |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCATCATCAGTGGCTCACTTACC -3'
(R):5'- GCATCTCCCTCTTGTTGGGGAAAG -3'
Sequencing Primer
(F):5'- CTAAGGATGGAACTGATCTTTGCC -3'
(R):5'- tgcatatcagagggcatcag -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation