Incidental Mutation 'R6493:Parn'
| ID |
522886 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Parn
|
| Ensembl Gene |
ENSMUSG00000022685 |
| Gene Name |
poly(A)-specific ribonuclease (deadenylation nuclease) |
| Synonyms |
DAN, 1200003I18Rik |
| MMRRC Submission |
044625-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.958)
|
| Stock # |
R6493 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
13355828-13486035 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 13474789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Valine
at position 127
(F127V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055969
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058884]
[ENSMUST00000229042]
[ENSMUST00000231003]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000058884
AA Change: F127V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000055969
Gene: ENSMUSG00000022685
AA Change: F127V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1
|
3 |
383 |
2.7e-86 |
PFAM |
|
Pfam:R3H
|
172 |
236 |
2.8e-13 |
PFAM |
|
Pfam:RNA_bind
|
430 |
508 |
2.2e-37 |
PFAM |
|
low complexity region
|
564 |
578 |
N/A |
INTRINSIC |
|
low complexity region
|
591 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000229042
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229526
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000231003
AA Change: F127V
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.4%
- 10x: 97.3%
- 20x: 91.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
A |
11: 110,184,704 (GRCm39) |
H934L |
probably benign |
Het |
| Abcb1b |
G |
A |
5: 8,874,698 (GRCm39) |
D453N |
probably damaging |
Het |
| Ampd3 |
A |
G |
7: 110,395,018 (GRCm39) |
|
probably null |
Het |
| Axdnd1 |
A |
T |
1: 156,208,383 (GRCm39) |
I485N |
probably damaging |
Het |
| Bscl2 |
A |
G |
19: 8,817,138 (GRCm39) |
D22G |
probably damaging |
Het |
| Ccdc96 |
A |
G |
5: 36,643,596 (GRCm39) |
E534G |
probably damaging |
Het |
| Cdc42bpg |
G |
T |
19: 6,368,485 (GRCm39) |
G1061V |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,393,468 (GRCm39) |
Y26H |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
| Daxx |
T |
A |
17: 34,131,345 (GRCm39) |
|
probably null |
Het |
| Egf |
T |
C |
3: 129,512,737 (GRCm39) |
|
probably benign |
Het |
| Eps15 |
A |
G |
4: 109,226,145 (GRCm39) |
D629G |
probably damaging |
Het |
| Fancm |
G |
A |
12: 65,144,262 (GRCm39) |
A575T |
probably benign |
Het |
| Fat4 |
G |
A |
3: 38,945,036 (GRCm39) |
D1310N |
probably damaging |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Grxcr2 |
G |
A |
18: 42,131,766 (GRCm39) |
P101L |
possibly damaging |
Het |
| Hsd17b12 |
A |
T |
2: 93,874,228 (GRCm39) |
I225N |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,511,773 (GRCm39) |
Y278C |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,615,205 (GRCm39) |
|
probably null |
Het |
| Lax1 |
C |
T |
1: 133,607,530 (GRCm39) |
D404N |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,081,095 (GRCm39) |
K329E |
probably damaging |
Het |
| Lysmd2 |
T |
G |
9: 75,542,984 (GRCm39) |
L197R |
probably damaging |
Het |
| Maneal |
A |
T |
4: 124,750,964 (GRCm39) |
I264N |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,455 (GRCm39) |
N1729S |
probably benign |
Het |
| Myl2 |
A |
G |
5: 122,244,791 (GRCm39) |
N154D |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,081,812 (GRCm39) |
D638V |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,362,110 (GRCm39) |
H74R |
unknown |
Het |
| Olfml3 |
A |
T |
3: 103,643,523 (GRCm39) |
V286D |
possibly damaging |
Het |
| Or14c46 |
T |
G |
7: 85,918,090 (GRCm39) |
K302N |
probably benign |
Het |
| Or4b12 |
G |
A |
2: 90,096,052 (GRCm39) |
H241Y |
probably damaging |
Het |
| Or51a25 |
G |
T |
7: 102,373,287 (GRCm39) |
R137S |
possibly damaging |
Het |
| Or51f23c-ps1 |
A |
G |
7: 102,431,603 (GRCm39) |
K307E |
probably benign |
Het |
| Or8k41 |
T |
C |
2: 86,313,565 (GRCm39) |
I174V |
possibly damaging |
Het |
| Pcdhac2 |
T |
C |
18: 37,277,758 (GRCm39) |
V246A |
probably damaging |
Het |
| Plin2 |
G |
A |
4: 86,580,224 (GRCm39) |
T90I |
possibly damaging |
Het |
| Podxl |
C |
T |
6: 31,501,981 (GRCm39) |
C326Y |
probably damaging |
Het |
| Pramel46 |
A |
G |
5: 95,418,684 (GRCm39) |
L104P |
probably damaging |
Het |
| Prl8a8 |
T |
A |
13: 27,691,335 (GRCm39) |
K223* |
probably null |
Het |
| Ptprh |
T |
G |
7: 4,583,989 (GRCm39) |
E201A |
possibly damaging |
Het |
| Rtn1 |
A |
C |
12: 72,355,103 (GRCm39) |
V281G |
probably damaging |
Het |
| Scaf8 |
T |
C |
17: 3,221,394 (GRCm39) |
S294P |
unknown |
Het |
| Shroom3 |
C |
A |
5: 93,089,420 (GRCm39) |
N723K |
probably benign |
Het |
| Spata22 |
T |
C |
11: 73,244,572 (GRCm39) |
*312R |
probably null |
Het |
| Stx7 |
T |
C |
10: 24,060,969 (GRCm39) |
|
probably null |
Het |
| Taar6 |
T |
C |
10: 23,861,021 (GRCm39) |
D175G |
probably benign |
Het |
| Tbccd1 |
A |
C |
16: 22,641,216 (GRCm39) |
L387R |
probably damaging |
Het |
| Tecpr1 |
T |
C |
5: 144,146,792 (GRCm39) |
M525V |
probably benign |
Het |
| Tex10 |
A |
T |
4: 48,436,450 (GRCm39) |
I756N |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,572,341 (GRCm39) |
E24438G |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,384,002 (GRCm39) |
K1053R |
probably damaging |
Het |
| Wdpcp |
C |
T |
11: 21,661,631 (GRCm39) |
T301I |
possibly damaging |
Het |
| Zbtb1 |
C |
T |
12: 76,433,247 (GRCm39) |
T411I |
probably benign |
Het |
| Zzef1 |
G |
A |
11: 72,804,129 (GRCm39) |
G2624R |
probably benign |
Het |
|
| Other mutations in Parn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00987:Parn
|
APN |
16 |
13,485,467 (GRCm39) |
missense |
probably benign |
|
|
IGL02030:Parn
|
APN |
16 |
13,482,514 (GRCm39) |
splice site |
probably null |
|
|
IGL02179:Parn
|
APN |
16 |
13,485,456 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02336:Parn
|
APN |
16 |
13,384,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
arlette
|
UTSW |
16 |
13,424,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Parn
|
UTSW |
16 |
13,425,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4651001:Parn
|
UTSW |
16 |
13,449,431 (GRCm39) |
missense |
probably benign |
0.25 |
|
R0388:Parn
|
UTSW |
16 |
13,472,340 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R0485:Parn
|
UTSW |
16 |
13,472,299 (GRCm39) |
splice site |
probably benign |
|
|
R0625:Parn
|
UTSW |
16 |
13,458,158 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1104:Parn
|
UTSW |
16 |
13,485,449 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1299:Parn
|
UTSW |
16 |
13,482,593 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1356:Parn
|
UTSW |
16 |
13,468,538 (GRCm39) |
nonsense |
probably null |
|
|
R2067:Parn
|
UTSW |
16 |
13,420,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2111:Parn
|
UTSW |
16 |
13,420,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2397:Parn
|
UTSW |
16 |
13,384,518 (GRCm39) |
missense |
probably benign |
|
|
R4473:Parn
|
UTSW |
16 |
13,482,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4474:Parn
|
UTSW |
16 |
13,482,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4475:Parn
|
UTSW |
16 |
13,482,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4476:Parn
|
UTSW |
16 |
13,482,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4665:Parn
|
UTSW |
16 |
13,358,967 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4795:Parn
|
UTSW |
16 |
13,424,066 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5122:Parn
|
UTSW |
16 |
13,472,311 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5226:Parn
|
UTSW |
16 |
13,443,416 (GRCm39) |
missense |
probably benign |
|
|
R5355:Parn
|
UTSW |
16 |
13,485,886 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5570:Parn
|
UTSW |
16 |
13,483,794 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5979:Parn
|
UTSW |
16 |
13,424,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6009:Parn
|
UTSW |
16 |
13,485,428 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6173:Parn
|
UTSW |
16 |
13,469,675 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7055:Parn
|
UTSW |
16 |
13,443,998 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7278:Parn
|
UTSW |
16 |
13,443,927 (GRCm39) |
splice site |
probably null |
|
|
R7391:Parn
|
UTSW |
16 |
13,485,870 (GRCm39) |
splice site |
probably null |
|
|
R7706:Parn
|
UTSW |
16 |
13,425,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8188:Parn
|
UTSW |
16 |
13,359,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8317:Parn
|
UTSW |
16 |
13,358,964 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8326:Parn
|
UTSW |
16 |
13,483,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8419:Parn
|
UTSW |
16 |
13,466,338 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8433:Parn
|
UTSW |
16 |
13,485,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8475:Parn
|
UTSW |
16 |
13,425,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8847:Parn
|
UTSW |
16 |
13,446,270 (GRCm39) |
nonsense |
probably null |
|
|
R8958:Parn
|
UTSW |
16 |
13,466,322 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8988:Parn
|
UTSW |
16 |
13,466,281 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9277:Parn
|
UTSW |
16 |
13,482,519 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9476:Parn
|
UTSW |
16 |
13,358,942 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9510:Parn
|
UTSW |
16 |
13,358,942 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCGCACATAAGTGGCATATGC -3'
(R):5'- AAGAGTGTCTTCTGACTTTTGGCC -3'
Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- GACTTTTGGCCTGCTTTCTTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation