Incidental Mutation 'IGL02995:Prr27'
| ID |
407094 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Prr27
|
| Ensembl Gene |
ENSMUSG00000002240 |
| Gene Name |
proline rich 27 |
| Synonyms |
4930432K09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
87973556-87994245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87990675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 96
(S96P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002310]
[ENSMUST00000101056]
|
| AlphaFold |
Q3SYJ2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002310
AA Change: S88P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002310
Gene: ENSMUSG00000002240
AA Change: S88P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
49 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
104 |
130 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
179 |
194 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101056
AA Change: S96P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098617
Gene: ENSMUSG00000002240
AA Change: S96P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
65 |
N/A |
INTRINSIC |
|
low complexity region
|
112 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
187 |
202 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197636
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
G |
17: 48,470,456 (GRCm39) |
V175A |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,027,176 (GRCm39) |
R603Q |
probably benign |
Het |
| Adam25 |
T |
C |
8: 41,206,760 (GRCm39) |
S9P |
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,647,477 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
C |
T |
8: 71,935,761 (GRCm39) |
V286I |
possibly damaging |
Het |
| Baz1a |
C |
T |
12: 54,947,232 (GRCm39) |
R1139H |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,452,953 (GRCm39) |
L29H |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,958,535 (GRCm39) |
|
probably benign |
Het |
| C8b |
T |
A |
4: 104,658,525 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,244,608 (GRCm39) |
S1283T |
probably damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,584,511 (GRCm39) |
*514W |
probably null |
Het |
| D2hgdh |
G |
T |
1: 93,757,558 (GRCm39) |
D158Y |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 139,008,980 (GRCm39) |
V228M |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,881,342 (GRCm39) |
L732* |
probably null |
Het |
| Gm21969 |
G |
A |
4: 139,335,009 (GRCm39) |
G348S |
probably benign |
Het |
| Gprc6a |
C |
T |
10: 51,502,895 (GRCm39) |
V323M |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,166 (GRCm39) |
M111L |
probably damaging |
Het |
| Iars2 |
G |
T |
1: 185,035,498 (GRCm39) |
Q581K |
probably benign |
Het |
| Klra17 |
A |
T |
6: 129,845,647 (GRCm39) |
|
probably null |
Het |
| Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
| Lats2 |
T |
C |
14: 57,937,805 (GRCm39) |
Y228C |
probably damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,216 (GRCm39) |
I700M |
probably damaging |
Het |
| Ltb |
A |
T |
17: 35,414,348 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,923,279 (GRCm39) |
|
probably benign |
Het |
| Or10a3 |
T |
A |
7: 108,480,198 (GRCm39) |
E205V |
probably damaging |
Het |
| Or11l3 |
A |
G |
11: 58,516,107 (GRCm39) |
M255T |
possibly damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,600 (GRCm39) |
H174Q |
probably damaging |
Het |
| Or1e35 |
G |
A |
11: 73,798,045 (GRCm39) |
T91M |
possibly damaging |
Het |
| Or1j17 |
C |
T |
2: 36,578,644 (GRCm39) |
P210L |
possibly damaging |
Het |
| Pgap1 |
A |
C |
1: 54,532,509 (GRCm39) |
I670S |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,493,530 (GRCm39) |
I362N |
probably damaging |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Psip1 |
T |
A |
4: 83,381,954 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,544,084 (GRCm39) |
H285Q |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,191,722 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
C |
A |
12: 100,540,258 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
| Snx6 |
T |
C |
12: 54,842,295 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,995,688 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
C |
4: 94,627,877 (GRCm39) |
|
probably benign |
Het |
| Tor2a |
T |
A |
2: 32,651,509 (GRCm39) |
H241Q |
possibly damaging |
Het |
| Wnt5a |
A |
T |
14: 28,244,871 (GRCm39) |
I353F |
probably benign |
Het |
|
| Other mutations in Prr27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02027:Prr27
|
APN |
5 |
87,991,302 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02617:Prr27
|
APN |
5 |
87,990,518 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03270:Prr27
|
APN |
5 |
87,983,537 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R0531:Prr27
|
UTSW |
5 |
87,990,537 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0637:Prr27
|
UTSW |
5 |
87,999,005 (GRCm39) |
unclassified |
probably benign |
|
|
R1498:Prr27
|
UTSW |
5 |
87,998,600 (GRCm39) |
unclassified |
probably benign |
|
|
R1599:Prr27
|
UTSW |
5 |
87,991,084 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1744:Prr27
|
UTSW |
5 |
87,990,906 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1980:Prr27
|
UTSW |
5 |
87,991,261 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4033:Prr27
|
UTSW |
5 |
87,991,164 (GRCm39) |
nonsense |
probably null |
|
|
R4304:Prr27
|
UTSW |
5 |
87,990,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4306:Prr27
|
UTSW |
5 |
87,990,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4307:Prr27
|
UTSW |
5 |
87,990,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4308:Prr27
|
UTSW |
5 |
87,990,766 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4347:Prr27
|
UTSW |
5 |
87,990,531 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4675:Prr27
|
UTSW |
5 |
87,991,100 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4826:Prr27
|
UTSW |
5 |
87,998,825 (GRCm39) |
unclassified |
probably benign |
|
|
R4908:Prr27
|
UTSW |
5 |
87,990,888 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5361:Prr27
|
UTSW |
5 |
87,991,203 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5426:Prr27
|
UTSW |
5 |
87,998,744 (GRCm39) |
unclassified |
probably benign |
|
|
R7268:Prr27
|
UTSW |
5 |
87,991,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7785:Prr27
|
UTSW |
5 |
87,991,131 (GRCm39) |
missense |
probably benign |
|
|
R8087:Prr27
|
UTSW |
5 |
87,994,168 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8250:Prr27
|
UTSW |
5 |
87,990,556 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8270:Prr27
|
UTSW |
5 |
87,994,171 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8375:Prr27
|
UTSW |
5 |
87,990,710 (GRCm39) |
nonsense |
probably null |
|
|
R9070:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
R9071:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
R9101:Prr27
|
UTSW |
5 |
87,991,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9186:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
R9188:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
R9189:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
R9318:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
R9367:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
R9590:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
R9592:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
R9593:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
R9760:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
R9762:Prr27
|
UTSW |
5 |
87,990,994 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Prr27
|
UTSW |
5 |
87,990,505 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation