Incidental Mutation 'R8822:Rprd2'
| ID |
673097 |
| 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 |
068655-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.733)
|
| Stock # |
R8822 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
95667653-95726175 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 95691613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 221
(S221P)
|
| 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: S221P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088297
Gene: ENSMUSG00000028106
AA Change: S221P
| 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: S203P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143240
Gene: ENSMUSG00000028106
AA Change: S203P
| 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 |
|
| Meta Mutation Damage Score |
0.1603 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (65/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrb1 |
T |
C |
19: 56,711,849 (GRCm39) |
V349A |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,629,772 (GRCm39) |
V99A |
possibly damaging |
Het |
| Bank1 |
T |
A |
3: 135,809,640 (GRCm39) |
D418V |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,692 (GRCm39) |
V331A |
probably benign |
Het |
| Cd28 |
A |
T |
1: 60,808,820 (GRCm39) |
N178I |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,843,706 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
T |
C |
7: 17,803,378 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
G |
A |
10: 92,875,003 (GRCm39) |
A494V |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,324,268 (GRCm39) |
V180A |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,201,262 (GRCm39) |
I13T |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,514,471 (GRCm39) |
V493A |
probably benign |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Fam151a |
A |
T |
4: 106,602,842 (GRCm39) |
M254L |
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,648,184 (GRCm39) |
I1250N |
probably damaging |
Het |
| Gm6685 |
T |
G |
11: 28,289,768 (GRCm39) |
Q16P |
probably benign |
Het |
| Gpr26 |
A |
G |
7: 131,568,997 (GRCm39) |
Y114C |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,941,389 (GRCm39) |
V433D |
probably benign |
Het |
| Hps3 |
A |
G |
3: 20,057,391 (GRCm39) |
W930R |
probably benign |
Het |
| Igdcc4 |
C |
T |
9: 65,031,298 (GRCm39) |
T412I |
possibly damaging |
Het |
| Klhl35 |
T |
C |
7: 99,122,055 (GRCm39) |
V485A |
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,121,610 (GRCm39) |
D225G |
probably damaging |
Het |
| Myo15a |
C |
T |
11: 60,367,740 (GRCm39) |
R167C |
probably damaging |
Het |
| Obp2a |
A |
T |
2: 25,590,188 (GRCm39) |
D29V |
probably damaging |
Het |
| Or10d3 |
C |
A |
9: 39,461,812 (GRCm39) |
M118I |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,072,926 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5d47 |
A |
G |
2: 87,804,785 (GRCm39) |
S75P |
possibly damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,700 (GRCm39) |
Y6C |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,551,328 (GRCm39) |
E204G |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,784,615 (GRCm39) |
V387A |
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,806,312 (GRCm39) |
I2054K |
|
Het |
| Pkp1 |
T |
A |
1: 135,807,661 (GRCm39) |
M536L |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,848,658 (GRCm39) |
E68G |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,127,431 (GRCm39) |
D1892G |
possibly damaging |
Het |
| Pramel30 |
A |
G |
4: 144,057,092 (GRCm39) |
K92E |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,699,763 (GRCm39) |
L76P |
unknown |
Het |
| Ptprz1 |
T |
A |
6: 23,002,588 (GRCm39) |
N1559K |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,833,346 (GRCm39) |
N750I |
possibly damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,090,228 (GRCm39) |
M617L |
probably benign |
Het |
| S100a4 |
T |
C |
3: 90,512,358 (GRCm39) |
S14P |
probably benign |
Het |
| Samd11 |
A |
T |
4: 156,336,764 (GRCm39) |
L25Q |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,761,615 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,370,979 (GRCm39) |
S534P |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,507,702 (GRCm39) |
V781F |
probably benign |
Het |
| Setd1a |
C |
T |
7: 127,385,332 (GRCm39) |
L680F |
possibly damaging |
Het |
| Slc10a2 |
T |
G |
8: 5,139,149 (GRCm39) |
Q265P |
probably damaging |
Het |
| Slc27a1 |
T |
A |
8: 72,033,308 (GRCm39) |
D283E |
probably damaging |
Het |
| Slc38a4 |
G |
A |
15: 96,906,952 (GRCm39) |
T262M |
probably benign |
Het |
| Slc52a3 |
T |
G |
2: 151,846,513 (GRCm39) |
V158G |
probably benign |
Het |
| Snx16 |
T |
C |
3: 10,484,125 (GRCm39) |
V64A |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,499,900 (GRCm39) |
W887R |
probably damaging |
Het |
| Tcap |
G |
A |
11: 98,275,264 (GRCm39) |
V133M |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,578,444 (GRCm39) |
L217P |
probably damaging |
Het |
| Tnfrsf12a |
T |
C |
17: 23,895,188 (GRCm39) |
S87G |
probably benign |
Het |
| Tyr |
G |
A |
7: 87,142,330 (GRCm39) |
R77C |
probably damaging |
Het |
| Uba6 |
A |
G |
5: 86,294,932 (GRCm39) |
|
probably benign |
Het |
| Usp24 |
G |
A |
4: 106,269,410 (GRCm39) |
V2107M |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,544,920 (GRCm39) |
S118P |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,516 (GRCm39) |
T589I |
probably damaging |
Het |
| Zfp263 |
G |
T |
16: 3,562,004 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,723,831 (GRCm39) |
T1945A |
probably benign |
Het |
| Zfp644 |
G |
T |
5: 106,783,087 (GRCm39) |
R1065S |
possibly damaging |
Het |
| Zfp668 |
A |
T |
7: 127,466,315 (GRCm39) |
S290T |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,869 (GRCm39) |
D699E |
probably 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 |
|
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 |
|
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'- GGGTTCTGAAAATTGTTTCACCC -3'
(R):5'- GCTAAGAGTATGGTTTGACATGAG -3'
Sequencing Primer
(F):5'- CTGTGGGTGATTCATTCCAGAAACAC -3'
(R):5'- GGGGGGAGAATATGTAATCC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation