Incidental Mutation 'R4033:Prr27'
ID |
313576 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Prr27
|
Ensembl Gene |
ENSMUSG00000002240 |
Gene Name |
proline rich 27 |
Synonyms |
4930432K09Rik |
MMRRC Submission |
040961-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4033 (G1)
|
Quality Score |
209 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
87973556-87994245 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 87991164 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 259
(E259*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000098617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002310]
[ENSMUST00000101056]
|
AlphaFold |
Q3SYJ2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000002310
AA Change: E251*
|
SMART Domains |
Protein: ENSMUSP00000002310 Gene: ENSMUSG00000002240 AA Change: E251*
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 null
Transcript: ENSMUST00000101056
AA Change: E259*
|
SMART Domains |
Protein: ENSMUSP00000098617 Gene: ENSMUSG00000002240 AA Change: E259*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (47/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam34l |
C |
G |
8: 44,079,710 (GRCm39) |
M171I |
probably benign |
Het |
Als2 |
G |
T |
1: 59,235,400 (GRCm39) |
S761R |
probably benign |
Het |
Ankrd63 |
C |
A |
2: 118,533,412 (GRCm39) |
|
probably benign |
Het |
Brf1 |
G |
A |
12: 112,943,352 (GRCm39) |
T166M |
probably damaging |
Het |
Car9 |
T |
C |
4: 43,508,624 (GRCm39) |
V131A |
possibly damaging |
Het |
Cerk |
T |
G |
15: 86,039,228 (GRCm39) |
H221P |
possibly damaging |
Het |
Cfap69 |
A |
T |
5: 5,654,389 (GRCm39) |
I458N |
possibly damaging |
Het |
Chil4 |
T |
C |
3: 106,121,765 (GRCm39) |
Y28C |
probably damaging |
Het |
Cracd |
A |
G |
5: 77,006,312 (GRCm39) |
N891S |
unknown |
Het |
Dmxl1 |
A |
G |
18: 49,984,498 (GRCm39) |
T165A |
possibly damaging |
Het |
Erich6b |
A |
T |
14: 75,896,207 (GRCm39) |
N31I |
probably benign |
Het |
Fgf17 |
G |
T |
14: 70,878,966 (GRCm39) |
|
probably benign |
Het |
Fhit |
A |
T |
14: 10,751,671 (GRCm38) |
|
probably benign |
Het |
Fnip1 |
A |
T |
11: 54,393,297 (GRCm39) |
I578L |
probably benign |
Het |
Gm17641 |
C |
T |
3: 68,777,146 (GRCm39) |
R36W |
probably damaging |
Het |
Gprin2 |
A |
T |
14: 33,916,635 (GRCm39) |
D378E |
probably benign |
Het |
Grhl3 |
T |
A |
4: 135,300,735 (GRCm39) |
M1L |
probably benign |
Het |
Hsp90aa1 |
T |
A |
12: 110,662,114 (GRCm39) |
M1L |
possibly damaging |
Het |
Hsp90aa1 |
C |
A |
12: 110,662,115 (GRCm39) |
|
probably null |
Het |
Ifih1 |
G |
A |
2: 62,465,534 (GRCm39) |
S212L |
probably benign |
Het |
Iqck |
T |
C |
7: 118,540,827 (GRCm39) |
I242T |
probably damaging |
Het |
Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
Lsm14b |
A |
G |
2: 179,673,309 (GRCm39) |
K195E |
probably benign |
Het |
Mical1 |
G |
A |
10: 41,357,172 (GRCm39) |
V326I |
probably benign |
Het |
Mtnr1b |
A |
T |
9: 15,774,830 (GRCm39) |
N76K |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,837,401 (GRCm39) |
|
probably benign |
Het |
Nop14 |
T |
C |
5: 34,807,861 (GRCm39) |
D367G |
probably benign |
Het |
Nrxn3 |
T |
C |
12: 89,499,771 (GRCm39) |
C721R |
probably damaging |
Het |
Or51e1 |
C |
T |
7: 102,358,697 (GRCm39) |
T77I |
probably damaging |
Het |
Psmg3 |
G |
A |
5: 139,812,086 (GRCm39) |
P5S |
probably damaging |
Het |
Pxdn |
A |
G |
12: 30,053,224 (GRCm39) |
T1134A |
probably benign |
Het |
Rbm28 |
T |
C |
6: 29,159,668 (GRCm39) |
N120S |
probably damaging |
Het |
Reg3b |
A |
T |
6: 78,350,192 (GRCm39) |
K157N |
possibly damaging |
Het |
Rlf |
T |
G |
4: 121,004,540 (GRCm39) |
Q1480P |
probably damaging |
Het |
Slc16a12 |
A |
T |
19: 34,652,567 (GRCm39) |
L193Q |
probably damaging |
Het |
Smo |
G |
A |
6: 29,759,917 (GRCm39) |
R672H |
probably damaging |
Het |
Smyd4 |
A |
G |
11: 75,240,580 (GRCm39) |
D25G |
probably benign |
Het |
Sorbs2 |
C |
G |
8: 46,228,632 (GRCm39) |
D264E |
probably damaging |
Het |
Tctn3 |
G |
T |
19: 40,585,767 (GRCm39) |
Q593K |
probably benign |
Het |
Tdrd9 |
A |
T |
12: 111,958,973 (GRCm39) |
I136L |
possibly damaging |
Het |
Tshz3 |
G |
A |
7: 36,470,009 (GRCm39) |
S666N |
possibly damaging |
Het |
Ubn1 |
C |
T |
16: 4,882,475 (GRCm39) |
T69M |
probably damaging |
Het |
Unk |
A |
T |
11: 115,944,353 (GRCm39) |
H368L |
probably benign |
Het |
Zan |
A |
T |
5: 137,436,122 (GRCm39) |
L2051* |
probably null |
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 |
IGL02995:Prr27
|
APN |
5 |
87,990,675 (GRCm39) |
missense |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CAAACTTGGAACACCCGTGC -3'
(R):5'- TTGCTTCAGTAGGCTCAGC -3'
Sequencing Primer
(F):5'- TCCGGACCCAAACCTCTTG -3'
(R):5'- GCTTCAGTAGGCTCAGCTGTAATAAG -3'
|
Posted On |
2015-04-30 |