Incidental Mutation 'R0566:Prima1'
| ID |
46194 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prima1
|
| Ensembl Gene |
ENSMUSG00000041669 |
| Gene Name |
proline rich membrane anchor 1 |
| Synonyms |
B230212M13Rik |
| MMRRC Submission |
038757-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0566 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
103163167-103208409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 103163573 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 133
(A133S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074017
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074416]
[ENSMUST00000127843]
[ENSMUST00000156176]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000074416
AA Change: A133S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000074017
Gene: ENSMUSG00000041669
AA Change: A133S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:PRIMA1
|
37 |
153 |
2.5e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123655
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127843
|
| SMART Domains |
Protein: ENSMUSP00000114309
Gene: ENSMUSG00000041669
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
78 |
N/A |
INTRINSIC |
|
transmembrane domain
|
93 |
115 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156176
|
| Meta Mutation Damage Score |
0.1016 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
96% (24/25) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene functions to organize acetylcholinesterase (AChE) into tetramers, and to anchor AChE at neural cell membranes. [provided by RefSeq, Nov 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased sensitivity to organophosphorus AChE inhibitors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsf3 |
T |
C |
8: 123,508,266 (GRCm39) |
L254P |
possibly damaging |
Het |
| Adamts6 |
C |
A |
13: 104,581,435 (GRCm39) |
A850E |
probably benign |
Het |
| Ccdc112 |
A |
C |
18: 46,423,877 (GRCm39) |
V287G |
probably damaging |
Het |
| Ctbp2 |
A |
G |
7: 132,592,876 (GRCm39) |
V811A |
probably damaging |
Het |
| Dchs1 |
A |
G |
7: 105,408,402 (GRCm39) |
V1810A |
probably benign |
Het |
| Dhx15 |
T |
G |
5: 52,328,767 (GRCm39) |
K287T |
probably damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,221,840 (GRCm39) |
|
probably benign |
Het |
| Gnpda2 |
A |
G |
5: 69,742,304 (GRCm39) |
|
probably benign |
Het |
| Mto1 |
T |
C |
9: 78,355,583 (GRCm39) |
F2S |
possibly damaging |
Het |
| Nlrp1a |
A |
G |
11: 71,013,768 (GRCm39) |
L494P |
probably benign |
Het |
| Or2r2 |
T |
A |
6: 42,464,025 (GRCm39) |
Y34F |
probably damaging |
Het |
| Paqr8 |
C |
A |
1: 21,005,687 (GRCm39) |
H280Q |
possibly damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,316 (GRCm39) |
M287L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,647,843 (GRCm39) |
V323A |
probably damaging |
Het |
| Pon3 |
A |
G |
6: 5,232,408 (GRCm39) |
V131A |
possibly damaging |
Het |
| Prl7c1 |
A |
G |
13: 27,962,961 (GRCm39) |
L14P |
probably damaging |
Het |
| Prr23a2 |
T |
A |
9: 98,739,041 (GRCm39) |
L133H |
possibly damaging |
Het |
| Samd3 |
T |
C |
10: 26,120,396 (GRCm39) |
V157A |
possibly damaging |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Tep1 |
A |
T |
14: 51,082,871 (GRCm39) |
|
probably null |
Het |
| Tmem208 |
T |
C |
8: 106,061,475 (GRCm39) |
V167A |
probably benign |
Het |
| Tnrc6a |
A |
T |
7: 122,770,136 (GRCm39) |
N642I |
probably benign |
Het |
| Vps26a |
A |
G |
10: 62,316,325 (GRCm39) |
|
probably benign |
Het |
| Zfp112 |
T |
C |
7: 23,825,102 (GRCm39) |
S357P |
probably benign |
Het |
|
| Other mutations in Prima1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01584:Prima1
|
APN |
12 |
103,169,047 (GRCm39) |
splice site |
probably null |
|
|
IGL02867:Prima1
|
APN |
12 |
103,163,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02889:Prima1
|
APN |
12 |
103,163,575 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1585:Prima1
|
UTSW |
12 |
103,201,854 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2135:Prima1
|
UTSW |
12 |
103,168,949 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Prima1
|
UTSW |
12 |
103,168,864 (GRCm39) |
splice site |
probably null |
|
|
R5605:Prima1
|
UTSW |
12 |
103,166,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6850:Prima1
|
UTSW |
12 |
103,163,594 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7577:Prima1
|
UTSW |
12 |
103,163,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7671:Prima1
|
UTSW |
12 |
103,201,920 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8559:Prima1
|
UTSW |
12 |
103,163,512 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGACAGACAGACCCTCTGCTTTC -3'
(R):5'- GTAGCTTCTGATTGACCCCACAGAC -3'
Sequencing Primer
(F):5'- CTTTCAGTAGCAACTGGTGACAG -3'
(R):5'- AGACGTGCTAACCTGGACTC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation