Incidental Mutation 'R1397:Pate2'
| ID |
160188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pate2
|
| Ensembl Gene |
ENSMUSG00000074452 |
| Gene Name |
prostate and testis expressed 2 |
| Synonyms |
LOC330921, mANLP1 |
| MMRRC Submission |
039459-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1397 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
35580935-35584185 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 35580991 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 2
(F2I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098906]
[ENSMUST00000118254]
|
| AlphaFold |
Q3UW31 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000098906
AA Change: F2I
|
| SMART Domains |
Protein: ENSMUSP00000096505
Gene: ENSMUSG00000074452
AA Change: F2I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118254
AA Change: F2I
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000113239
Gene: ENSMUSG00000074452
AA Change: F2I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173488
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217565
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.0%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
C |
17: 24,504,733 (GRCm39) |
E1222G |
probably benign |
Het |
| Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
| Ankmy2 |
T |
C |
12: 36,220,440 (GRCm39) |
|
probably benign |
Het |
| Arhgef10l |
C |
T |
4: 140,271,754 (GRCm39) |
G827D |
probably damaging |
Het |
| Chrac1 |
A |
G |
15: 72,962,293 (GRCm39) |
D3G |
possibly damaging |
Het |
| Dmrtb1 |
G |
C |
4: 107,534,236 (GRCm39) |
P349R |
probably damaging |
Het |
| Drd1 |
A |
G |
13: 54,207,573 (GRCm39) |
Y207H |
probably damaging |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Epb41l3 |
T |
A |
17: 69,569,343 (GRCm39) |
|
probably null |
Het |
| Fam13b |
C |
T |
18: 34,578,636 (GRCm39) |
M705I |
probably benign |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Iqgap2 |
A |
G |
13: 95,768,673 (GRCm39) |
I1409T |
probably benign |
Het |
| Itih1 |
C |
T |
14: 30,651,862 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
A |
T |
2: 10,245,618 (GRCm39) |
D569V |
probably benign |
Het |
| Krt9 |
A |
T |
11: 100,083,464 (GRCm39) |
L189Q |
probably damaging |
Het |
| Mfsd11 |
T |
C |
11: 116,764,123 (GRCm39) |
F368S |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,133,955 (GRCm39) |
V3343F |
probably damaging |
Het |
| Nfe2l3 |
T |
C |
6: 51,410,274 (GRCm39) |
S130P |
probably benign |
Het |
| Nid1 |
G |
A |
13: 13,683,380 (GRCm39) |
A1153T |
possibly damaging |
Het |
| Nr2c2 |
T |
C |
6: 92,126,745 (GRCm39) |
I78T |
probably benign |
Het |
| Nrp1 |
T |
G |
8: 129,145,197 (GRCm39) |
Y84* |
probably null |
Het |
| Pign |
A |
G |
1: 105,585,496 (GRCm39) |
S18P |
probably damaging |
Het |
| Pla2r1 |
T |
A |
2: 60,365,106 (GRCm39) |
T155S |
probably benign |
Het |
| Rabl3 |
C |
T |
16: 37,360,336 (GRCm39) |
|
probably benign |
Het |
| Rhbg |
C |
T |
3: 88,155,753 (GRCm39) |
V66I |
probably benign |
Het |
| Rimkla |
C |
T |
4: 119,325,308 (GRCm39) |
G367E |
probably benign |
Het |
| Rnpepl1 |
C |
A |
1: 92,844,881 (GRCm39) |
T391N |
probably damaging |
Het |
| Rnps1 |
C |
T |
17: 24,631,031 (GRCm39) |
|
probably benign |
Het |
| Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
| Slc25a48 |
A |
C |
13: 56,612,864 (GRCm39) |
D254A |
probably damaging |
Het |
| Slc28a2 |
T |
A |
2: 122,291,012 (GRCm39) |
C659* |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Spata31d1a |
C |
T |
13: 59,852,853 (GRCm39) |
|
probably benign |
Het |
| Srrm1 |
A |
C |
4: 135,048,742 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,523 (GRCm39) |
V247A |
possibly damaging |
Het |
| Tnks2 |
T |
C |
19: 36,857,901 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,217,750 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
A |
9: 97,247,674 (GRCm39) |
I341F |
probably damaging |
Het |
| Trim55 |
T |
C |
3: 19,698,801 (GRCm39) |
F10S |
probably benign |
Het |
| Trpm1 |
T |
C |
7: 63,867,406 (GRCm39) |
W369R |
probably damaging |
Het |
| Vps13d |
C |
T |
4: 144,867,904 (GRCm39) |
R1976H |
probably damaging |
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 |
|
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 |
|
|
R6510:Pate2
|
UTSW |
9 |
35,581,018 (GRCm39) |
missense |
probably null |
0.99 |
|
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'- CCTGAGGGAGTCAAACACAATGTCTTG -3'
(R):5'- GAAGGGAGGTTTACTCCTGAATGTGTC -3'
Sequencing Primer
(F):5'- GTCAAACACAATGTCTTGATCCTGG -3'
(R):5'- AGCTCATTAAGGACACCTGTG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation