Incidental Mutation 'R7240:Rnpc3'
ID |
563132 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rnpc3
|
Ensembl Gene |
ENSMUSG00000027981 |
Gene Name |
RNA-binding region (RNP1, RRM) containing 3 |
Synonyms |
C030014B17Rik, 2810441O16Rik |
MMRRC Submission |
045347-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7240 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
113398716-113423798 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 113410480 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 270
(R270S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092154]
[ENSMUST00000106535]
[ENSMUST00000106536]
|
AlphaFold |
Q3UZ01 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092154
AA Change: R270S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000089792 Gene: ENSMUSG00000027981 AA Change: R270S
Domain | Start | End | E-Value | Type |
RRM
|
28 |
98 |
2.28e-9 |
SMART |
low complexity region
|
218 |
253 |
N/A |
INTRINSIC |
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
RRM
|
419 |
497 |
1.35e-11 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106535
AA Change: R270S
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102145 Gene: ENSMUSG00000027981 AA Change: R270S
Domain | Start | End | E-Value | Type |
RRM
|
28 |
98 |
2.28e-9 |
SMART |
low complexity region
|
218 |
253 |
N/A |
INTRINSIC |
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
RRM
|
419 |
497 |
4.1e-11 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106536
AA Change: R270S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102146 Gene: ENSMUSG00000027981 AA Change: R270S
Domain | Start | End | E-Value | Type |
RRM
|
28 |
98 |
2.28e-9 |
SMART |
low complexity region
|
218 |
253 |
N/A |
INTRINSIC |
low complexity region
|
371 |
382 |
N/A |
INTRINSIC |
RRM
|
419 |
497 |
1.35e-11 |
SMART |
|
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000115492 Gene: ENSMUSG00000027981 AA Change: R218S
Domain | Start | End | E-Value | Type |
Blast:RRM
|
2 |
47 |
8e-22 |
BLAST |
SCOP:d1urna_
|
3 |
53 |
4e-4 |
SMART |
low complexity region
|
167 |
202 |
N/A |
INTRINSIC |
low complexity region
|
320 |
331 |
N/A |
INTRINSIC |
RRM
|
368 |
446 |
1.35e-11 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
96% (50/52) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Two types of spliceosomes catalyze splicing of pre-mRNAs. The major U2-type spliceosome is found in all eukaryotes and removes U2-type introns, which represent more than 99% of pre-mRNA introns. The minor U12-type spliceosome is found in some eukaryotes and removes U12-type introns, which are rare and have distinct splice consensus signals. The U12-type spliceosome consists of several small nuclear RNAs and associated proteins. This gene encodes a 65K protein that is a component of the U12-type spliceosome. This protein contains two RNA recognition motifs (RRMs), suggesting that it may contact one of the small nuclear RNAs of the minor spliceosome. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2210017I01Rik |
A |
G |
3: 92,512,382 (GRCm39) |
I59T |
unknown |
Het |
Aspm |
C |
T |
1: 139,406,389 (GRCm39) |
Q1759* |
probably null |
Het |
Atn1 |
A |
T |
6: 124,724,861 (GRCm39) |
I124K |
unknown |
Het |
Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
C |
T |
12: 100,911,198 (GRCm39) |
V879M |
probably benign |
Het |
Cd300c |
A |
G |
11: 114,850,609 (GRCm39) |
C65R |
possibly damaging |
Het |
Cd69 |
A |
T |
6: 129,247,005 (GRCm39) |
S112T |
possibly damaging |
Het |
Cdh19 |
T |
C |
1: 110,821,137 (GRCm39) |
T534A |
probably benign |
Het |
Cdk5rap2 |
T |
A |
4: 70,210,145 (GRCm39) |
D701V |
probably damaging |
Het |
D130052B06Rik |
A |
G |
11: 33,573,874 (GRCm39) |
H157R |
possibly damaging |
Het |
Dpf1 |
T |
A |
7: 29,011,052 (GRCm39) |
F150L |
probably benign |
Het |
Dsg1c |
T |
C |
18: 20,416,166 (GRCm39) |
L689P |
probably damaging |
Het |
Dstyk |
G |
A |
1: 132,381,861 (GRCm39) |
M538I |
probably benign |
Het |
E4f1 |
T |
A |
17: 24,663,299 (GRCm39) |
I669F |
probably damaging |
Het |
Gm7138 |
T |
C |
10: 77,612,589 (GRCm39) |
T64A |
unknown |
Het |
Gnai2 |
A |
C |
9: 107,492,972 (GRCm39) |
D310E |
|
Het |
Iqca1 |
A |
G |
1: 89,998,272 (GRCm39) |
V567A |
possibly damaging |
Het |
Iqgap1 |
A |
T |
7: 80,409,587 (GRCm39) |
N249K |
probably benign |
Het |
Lamc1 |
A |
G |
1: 153,110,396 (GRCm39) |
V1093A |
possibly damaging |
Het |
Mfap3 |
A |
G |
11: 57,420,582 (GRCm39) |
K188E |
probably damaging |
Het |
N4bp2 |
T |
A |
5: 65,951,888 (GRCm39) |
V431D |
probably damaging |
Het |
Notch4 |
A |
G |
17: 34,795,445 (GRCm39) |
T792A |
probably benign |
Het |
Ntn4 |
A |
G |
10: 93,581,603 (GRCm39) |
H592R |
probably damaging |
Het |
Ofcc1 |
A |
G |
13: 40,362,317 (GRCm39) |
C202R |
probably benign |
Het |
Or10j2 |
T |
C |
1: 173,098,561 (GRCm39) |
I273T |
probably benign |
Het |
Or2a7 |
A |
G |
6: 43,151,435 (GRCm39) |
K172E |
probably benign |
Het |
Or5p55 |
T |
C |
7: 107,567,395 (GRCm39) |
S264P |
probably benign |
Het |
Or5p72 |
A |
G |
7: 108,022,140 (GRCm39) |
M121V |
probably damaging |
Het |
Or8b55 |
A |
G |
9: 38,727,009 (GRCm39) |
D70G |
probably benign |
Het |
Or8g24 |
A |
T |
9: 38,989,906 (GRCm39) |
M45K |
probably damaging |
Het |
Parpbp |
G |
A |
10: 87,960,802 (GRCm39) |
T228I |
probably damaging |
Het |
Pcdhgb8 |
G |
A |
18: 37,896,756 (GRCm39) |
V609M |
probably damaging |
Het |
Pla2g4d |
T |
C |
2: 120,100,830 (GRCm39) |
N543S |
probably damaging |
Het |
Puf60 |
A |
G |
15: 75,944,388 (GRCm39) |
|
probably benign |
Het |
Rbm6 |
A |
T |
9: 107,730,095 (GRCm39) |
D184E |
probably damaging |
Het |
Rnase9 |
A |
C |
14: 51,276,436 (GRCm39) |
S181A |
probably benign |
Het |
Rundc1 |
T |
C |
11: 101,322,374 (GRCm39) |
|
probably null |
Het |
Ryr1 |
T |
C |
7: 28,751,440 (GRCm39) |
S3715G |
possibly damaging |
Het |
Scn3a |
A |
T |
2: 65,299,386 (GRCm39) |
D1373E |
possibly damaging |
Het |
Serpina3k |
T |
G |
12: 104,306,861 (GRCm39) |
I31S |
probably benign |
Het |
Sipa1l2 |
A |
G |
8: 126,196,599 (GRCm39) |
F712L |
probably damaging |
Het |
Slc22a29 |
A |
G |
19: 8,138,875 (GRCm39) |
V529A |
probably damaging |
Het |
Tdrd3 |
A |
G |
14: 87,696,239 (GRCm39) |
N58S |
probably benign |
Het |
Tmc2 |
C |
T |
2: 130,076,724 (GRCm39) |
T350I |
possibly damaging |
Het |
Tpst2 |
T |
C |
5: 112,455,544 (GRCm39) |
C28R |
probably benign |
Het |
Trbv21 |
A |
T |
6: 41,179,892 (GRCm39) |
K69N |
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,771,710 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
G |
2: 76,679,334 (GRCm39) |
V10796A |
unknown |
Het |
Ush2a |
A |
G |
1: 188,643,858 (GRCm39) |
T4407A |
possibly damaging |
Het |
Vmn2r95 |
A |
G |
17: 18,672,225 (GRCm39) |
H726R |
probably benign |
Het |
Zfp777 |
A |
G |
6: 48,021,383 (GRCm39) |
S80P |
probably benign |
Het |
|
Other mutations in Rnpc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02365:Rnpc3
|
APN |
3 |
113,402,048 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02750:Rnpc3
|
APN |
3 |
113,415,588 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0316:Rnpc3
|
UTSW |
3 |
113,423,622 (GRCm39) |
missense |
probably damaging |
1.00 |
R0420:Rnpc3
|
UTSW |
3 |
113,415,518 (GRCm39) |
missense |
probably benign |
0.00 |
R0601:Rnpc3
|
UTSW |
3 |
113,413,755 (GRCm39) |
missense |
probably benign |
0.18 |
R1051:Rnpc3
|
UTSW |
3 |
113,423,595 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1386:Rnpc3
|
UTSW |
3 |
113,407,433 (GRCm39) |
nonsense |
probably null |
|
R1865:Rnpc3
|
UTSW |
3 |
113,415,559 (GRCm39) |
nonsense |
probably null |
|
R1870:Rnpc3
|
UTSW |
3 |
113,404,704 (GRCm39) |
unclassified |
probably benign |
|
R2045:Rnpc3
|
UTSW |
3 |
113,402,009 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4447:Rnpc3
|
UTSW |
3 |
113,404,786 (GRCm39) |
unclassified |
probably benign |
|
R4450:Rnpc3
|
UTSW |
3 |
113,404,786 (GRCm39) |
unclassified |
probably benign |
|
R4934:Rnpc3
|
UTSW |
3 |
113,418,628 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5436:Rnpc3
|
UTSW |
3 |
113,418,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R5474:Rnpc3
|
UTSW |
3 |
113,409,158 (GRCm39) |
nonsense |
probably null |
|
R5498:Rnpc3
|
UTSW |
3 |
113,404,856 (GRCm39) |
critical splice donor site |
probably null |
|
R5505:Rnpc3
|
UTSW |
3 |
113,409,102 (GRCm39) |
missense |
probably damaging |
0.98 |
R5868:Rnpc3
|
UTSW |
3 |
113,410,360 (GRCm39) |
splice site |
probably null |
|
R6123:Rnpc3
|
UTSW |
3 |
113,402,705 (GRCm39) |
splice site |
probably null |
|
R7220:Rnpc3
|
UTSW |
3 |
113,422,004 (GRCm39) |
missense |
probably benign |
0.01 |
R7507:Rnpc3
|
UTSW |
3 |
113,410,410 (GRCm39) |
missense |
probably benign |
|
R7537:Rnpc3
|
UTSW |
3 |
113,407,481 (GRCm39) |
missense |
probably benign |
|
R7818:Rnpc3
|
UTSW |
3 |
113,423,600 (GRCm39) |
missense |
probably damaging |
1.00 |
R7872:Rnpc3
|
UTSW |
3 |
113,416,096 (GRCm39) |
nonsense |
probably null |
|
R8738:Rnpc3
|
UTSW |
3 |
113,414,805 (GRCm39) |
missense |
probably benign |
0.13 |
R9269:Rnpc3
|
UTSW |
3 |
113,404,895 (GRCm39) |
missense |
probably damaging |
0.97 |
R9375:Rnpc3
|
UTSW |
3 |
113,404,913 (GRCm39) |
missense |
probably damaging |
1.00 |
RF023:Rnpc3
|
UTSW |
3 |
113,413,723 (GRCm39) |
missense |
probably damaging |
0.98 |
X0012:Rnpc3
|
UTSW |
3 |
113,423,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GCGGTCAACAAAGTAAACTGAC -3'
(R):5'- GGAACCAGATGCTTGCTTATTG -3'
Sequencing Primer
(F):5'- GGTCAACAAAGTAAACTGACAAACTG -3'
(R):5'- ATGGTGCAGGTTAATTTAGAAAGTG -3'
|
Posted On |
2019-06-26 |