Incidental Mutation 'R8860:Hnrnpc'
| ID |
675625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hnrnpc
|
| Ensembl Gene |
ENSMUSG00000060373 |
| Gene Name |
heterogeneous nuclear ribonucleoprotein C |
| Synonyms |
D14Wsu171e, Hnrpc1, Hnrpc2, hnRNP C2, hnRNP C1, Hnrpc, hnRNPC1, hnRNPC2 |
| MMRRC Submission |
068678-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8860 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
52310834-52341485 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52312792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 261
(S261P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107237
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111610]
[ENSMUST00000164655]
[ENSMUST00000227242]
[ENSMUST00000227458]
[ENSMUST00000227536]
[ENSMUST00000228198]
[ENSMUST00000228232]
[ENSMUST00000228748]
|
| AlphaFold |
Q9Z204 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000111610
AA Change: S261P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000107237
Gene: ENSMUSG00000060373
AA Change: S261P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
83 |
8.13e-15 |
SMART |
|
low complexity region
|
112 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164655
AA Change: S261P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000133052
Gene: ENSMUSG00000060373
AA Change: S261P
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
17 |
83 |
8.13e-15 |
SMART |
|
low complexity region
|
112 |
121 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
175 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
210 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
260 |
303 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227242
AA Change: S248P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227458
AA Change: S240P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000227536
AA Change: S248P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228198
AA Change: S254P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228232
AA Change: S241P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228748
AA Change: S241P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (45/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele fail to undergo gastrulation, appear to arrest at the egg cylinder stage, and are resorbed at various times thereafter. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
T |
G |
12: 71,231,197 (GRCm39) |
V985G |
possibly damaging |
Het |
| Acr |
T |
G |
15: 89,458,057 (GRCm39) |
M246R |
probably damaging |
Het |
| Ago4 |
A |
T |
4: 126,387,043 (GRCm39) |
D853E |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,680,535 (GRCm39) |
F52L |
probably null |
Het |
| Blm |
A |
T |
7: 80,144,276 (GRCm39) |
C782S |
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,028,946 (GRCm39) |
Y98H |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,062,570 (GRCm39) |
D192G |
probably benign |
Het |
| Celf2 |
A |
G |
2: 6,565,468 (GRCm39) |
|
probably null |
Het |
| Chd1l |
A |
G |
3: 97,477,685 (GRCm39) |
F690S |
probably benign |
Het |
| Chuk |
A |
G |
19: 44,076,407 (GRCm39) |
S435P |
possibly damaging |
Het |
| Cisd3 |
T |
A |
11: 97,576,703 (GRCm39) |
S10T |
probably benign |
Het |
| Cma2 |
G |
T |
14: 56,210,574 (GRCm39) |
C143F |
probably damaging |
Het |
| Cmtm1 |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG |
8: 105,036,334 (GRCm39) |
|
probably null |
Het |
| Cnppd1 |
A |
G |
1: 75,113,063 (GRCm39) |
S402P |
probably damaging |
Het |
| Crtc1 |
A |
G |
8: 70,840,805 (GRCm39) |
S474P |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,289,361 (GRCm39) |
L13* |
probably null |
Het |
| Fat4 |
A |
T |
3: 38,946,269 (GRCm39) |
T1721S |
probably benign |
Het |
| Fntb |
T |
A |
12: 76,934,826 (GRCm39) |
V201E |
possibly damaging |
Het |
| Gga3 |
T |
C |
11: 115,481,244 (GRCm39) |
D242G |
probably benign |
Het |
| Hif3a |
A |
T |
7: 16,774,912 (GRCm39) |
M562K |
probably benign |
Het |
| Intu |
G |
A |
3: 40,627,162 (GRCm39) |
M314I |
probably benign |
Het |
| Lims1 |
C |
T |
10: 58,243,925 (GRCm39) |
Q126* |
probably null |
Het |
| Lrrc14b |
T |
A |
13: 74,509,408 (GRCm39) |
D333V |
probably damaging |
Het |
| Meaf6 |
T |
A |
4: 124,979,990 (GRCm39) |
L48Q |
probably damaging |
Het |
| Miip |
T |
A |
4: 147,950,839 (GRCm39) |
|
probably benign |
Het |
| Myh4 |
T |
A |
11: 67,132,335 (GRCm39) |
I155N |
probably damaging |
Het |
| Nnt |
T |
C |
13: 119,476,407 (GRCm39) |
Y733C |
|
Het |
| Nup155 |
T |
C |
15: 8,159,640 (GRCm39) |
V517A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,898,440 (GRCm39) |
R6607Q |
unknown |
Het |
| Or2ak7 |
C |
T |
11: 58,574,966 (GRCm39) |
T89I |
probably benign |
Het |
| Or51s1 |
A |
G |
7: 102,558,336 (GRCm39) |
S237P |
probably benign |
Het |
| Ptprg |
T |
C |
14: 12,213,685 (GRCm38) |
Y1018H |
probably damaging |
Het |
| Rdh8 |
A |
C |
9: 20,734,021 (GRCm39) |
N69T |
probably benign |
Het |
| Rgsl1 |
G |
A |
1: 153,697,100 (GRCm39) |
Q572* |
probably null |
Het |
| Septin7 |
A |
T |
9: 25,163,980 (GRCm39) |
N16Y |
possibly damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,241,218 (GRCm39) |
N69D |
probably benign |
Het |
| Ssh3 |
A |
T |
19: 4,317,992 (GRCm39) |
V41E |
probably damaging |
Het |
| Tmem253 |
A |
G |
14: 52,256,303 (GRCm39) |
R168G |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 41,791,654 (GRCm39) |
F526I |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,522,149 (GRCm39) |
|
probably benign |
Het |
| Vps4b |
A |
G |
1: 106,710,414 (GRCm39) |
F156L |
possibly damaging |
Het |
| Zfp354c |
T |
A |
11: 50,706,019 (GRCm39) |
H352L |
probably damaging |
Het |
| Zic2 |
A |
T |
14: 122,713,530 (GRCm39) |
H148L |
possibly damaging |
Het |
|
| Other mutations in Hnrnpc |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01876:Hnrnpc
|
APN |
14 |
52,319,330 (GRCm39) |
missense |
probably null |
0.01 |
|
IGL02654:Hnrnpc
|
APN |
14 |
52,321,574 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03248:Hnrnpc
|
APN |
14 |
52,312,896 (GRCm39) |
intron |
probably benign |
|
|
R0502:Hnrnpc
|
UTSW |
14 |
52,312,629 (GRCm39) |
splice site |
probably benign |
|
|
R1663:Hnrnpc
|
UTSW |
14 |
52,312,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4496:Hnrnpc
|
UTSW |
14 |
52,312,888 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5191:Hnrnpc
|
UTSW |
14 |
52,314,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7555:Hnrnpc
|
UTSW |
14 |
52,312,610 (GRCm39) |
nonsense |
probably null |
|
|
R7570:Hnrnpc
|
UTSW |
14 |
52,312,556 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8035:Hnrnpc
|
UTSW |
14 |
52,321,719 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1177:Hnrnpc
|
UTSW |
14 |
52,314,886 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCCAGCTGTGAGAAAGAC -3'
(R):5'- ATATGCAAATTGGGCTGTTTGGAAG -3'
Sequencing Primer
(F):5'- CCAGCTGTGAGAAAGACACAAATAAG -3'
(R):5'- AAGGGGCATTAATTTATTTGGAAAAC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation