Incidental Mutation 'R6510:Pate2'
| ID |
519887 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pate2
|
| Ensembl Gene |
ENSMUSG00000074452 |
| Gene Name |
prostate and testis expressed 2 |
| Synonyms |
LOC330921, mANLP1 |
| MMRRC Submission |
044423-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6510 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
35580935-35584185 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35581018 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 11
(C11S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098906]
[ENSMUST00000118254]
|
| AlphaFold |
Q3UW31 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098906
AA Change: C11S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000096505
Gene: ENSMUSG00000074452
AA Change: C11S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000118254
AA Change: C11S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113239
Gene: ENSMUSG00000074452
AA Change: C11S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173488
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000217565
AA Change: C8S
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,770,645 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,707,609 (GRCm39) |
T1266A |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,527,743 (GRCm39) |
N1758S |
probably damaging |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,482 (GRCm39) |
E182D |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,662,217 (GRCm39) |
D77G |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,036,861 (GRCm39) |
D108G |
probably damaging |
Het |
| Foxp4 |
A |
G |
17: 48,186,335 (GRCm39) |
F452S |
unknown |
Het |
| Gas2 |
T |
C |
7: 51,593,460 (GRCm39) |
L180P |
probably damaging |
Het |
| Gm28168 |
T |
C |
1: 117,875,685 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,845,131 (GRCm39) |
D217V |
probably damaging |
Het |
| Igsf9 |
C |
G |
1: 172,317,864 (GRCm39) |
Q74E |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 115,009,816 (GRCm39) |
F380I |
probably damaging |
Het |
| Kremen2 |
A |
G |
17: 23,962,629 (GRCm39) |
V128A |
possibly damaging |
Het |
| Mmp20 |
T |
A |
9: 7,643,967 (GRCm39) |
N218K |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,489,772 (GRCm39) |
K73* |
probably null |
Het |
| Or4c103 |
C |
T |
2: 88,513,302 (GRCm39) |
R258H |
probably benign |
Het |
| Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,159,875 (GRCm39) |
D297G |
probably damaging |
Het |
| Sgca |
A |
T |
11: 94,854,058 (GRCm39) |
L137Q |
probably benign |
Het |
| Treml4 |
A |
G |
17: 48,581,472 (GRCm39) |
D249G |
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,908,115 (GRCm39) |
C116R |
probably benign |
Het |
|
| Other mutations in Pate2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01475:Pate2
|
APN |
9 |
35,580,998 (GRCm39) |
start codon destroyed |
probably null |
|
|
IGL01729:Pate2
|
APN |
9 |
35,581,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03055:Pate2
|
APN |
9 |
35,523,069 (GRCm39) |
splice site |
probably benign |
|
|
foie_gras
|
UTSW |
9 |
35,581,797 (GRCm39) |
nonsense |
probably null |
|
|
PIT4576001:Pate2
|
UTSW |
9 |
35,581,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1229:Pate2
|
UTSW |
9 |
35,580,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1397:Pate2
|
UTSW |
9 |
35,580,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2393:Pate2
|
UTSW |
9 |
35,581,036 (GRCm39) |
splice site |
probably benign |
|
|
R2426:Pate2
|
UTSW |
9 |
35,581,776 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3407:Pate2
|
UTSW |
9 |
35,582,262 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4323:Pate2
|
UTSW |
9 |
35,581,767 (GRCm39) |
splice site |
probably benign |
|
|
R4574:Pate2
|
UTSW |
9 |
35,596,969 (GRCm39) |
intron |
probably benign |
|
|
R4716:Pate2
|
UTSW |
9 |
35,596,978 (GRCm39) |
intron |
probably benign |
|
|
R5023:Pate2
|
UTSW |
9 |
35,597,407 (GRCm39) |
intron |
probably benign |
|
|
R5057:Pate2
|
UTSW |
9 |
35,597,407 (GRCm39) |
intron |
probably benign |
|
|
R5384:Pate2
|
UTSW |
9 |
35,581,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5574:Pate2
|
UTSW |
9 |
35,597,411 (GRCm39) |
intron |
probably benign |
|
|
R5593:Pate2
|
UTSW |
9 |
35,581,778 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5851:Pate2
|
UTSW |
9 |
35,581,797 (GRCm39) |
nonsense |
probably null |
|
|
R6800:Pate2
|
UTSW |
9 |
35,596,941 (GRCm39) |
intron |
probably benign |
|
|
R6819:Pate2
|
UTSW |
9 |
35,581,801 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7531:Pate2
|
UTSW |
9 |
35,582,008 (GRCm39) |
splice site |
probably null |
|
|
R7765:Pate2
|
UTSW |
9 |
35,581,197 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7842:Pate2
|
UTSW |
9 |
35,581,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8015:Pate2
|
UTSW |
9 |
35,581,814 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8957:Pate2
|
UTSW |
9 |
35,596,911 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9126:Pate2
|
UTSW |
9 |
35,581,908 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTATCCTGAGGGAGTCAAACAC -3'
(R):5'- AGCTATGGTCATACCTTCTTCAAG -3'
Sequencing Primer
(F):5'- ACAATGTCTTGATCCTGGGAACCG -3'
(R):5'- AGCTCATTAAGGACACCTGTG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation