Incidental Mutation 'R8250:Prr27'
| ID |
640278 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr27
|
| Ensembl Gene |
ENSMUSG00000002240 |
| Gene Name |
proline rich 27 |
| Synonyms |
4930432K09Rik |
| MMRRC Submission |
067676-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8250 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
87973556-87994245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 87990556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 56
(N56S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002310]
[ENSMUST00000101056]
|
| AlphaFold |
Q3SYJ2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000002310
AA Change: N48S
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000002310
Gene: ENSMUSG00000002240
AA Change: N48S
| 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 |
possibly damaging
Transcript: ENSMUST00000101056
AA Change: N56S
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000098617
Gene: ENSMUSG00000002240
AA Change: N56S
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl1 |
A |
T |
4: 86,260,846 (GRCm39) |
E1027V |
probably damaging |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 36,971,811 (GRCm39) |
S515P |
probably damaging |
Het |
| Ccdc27 |
A |
T |
4: 154,126,245 (GRCm39) |
D81E |
unknown |
Het |
| Csrnp3 |
A |
G |
2: 65,852,562 (GRCm39) |
E330G |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Fat1 |
A |
G |
8: 45,406,336 (GRCm39) |
N1029S |
probably damaging |
Het |
| Ftcd |
T |
G |
10: 76,417,461 (GRCm39) |
I300R |
probably damaging |
Het |
| Fxr1 |
T |
A |
3: 34,101,178 (GRCm39) |
Y161* |
probably null |
Het |
| Gabrg2 |
C |
T |
11: 41,858,379 (GRCm39) |
V250I |
probably benign |
Het |
| Gmcl1 |
T |
C |
6: 86,698,384 (GRCm39) |
D171G |
possibly damaging |
Het |
| Grk2 |
A |
G |
19: 4,339,962 (GRCm39) |
F375S |
probably damaging |
Het |
| Kat2b |
T |
A |
17: 53,970,564 (GRCm39) |
I650N |
probably damaging |
Het |
| Lhfpl6 |
T |
C |
3: 52,950,759 (GRCm39) |
I11T |
probably benign |
Het |
| Mbtd1 |
A |
G |
11: 93,801,176 (GRCm39) |
Y141C |
probably damaging |
Het |
| Mon1b |
A |
T |
8: 114,366,351 (GRCm39) |
E449V |
probably damaging |
Het |
| Mrpl47 |
T |
C |
3: 32,785,382 (GRCm39) |
N112S |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,767,392 (GRCm39) |
H865Q |
probably damaging |
Het |
| Notch3 |
T |
C |
17: 32,351,310 (GRCm39) |
N1895S |
probably damaging |
Het |
| Nuggc |
A |
G |
14: 65,879,318 (GRCm39) |
I693V |
probably benign |
Het |
| Oip5 |
A |
G |
2: 119,446,110 (GRCm39) |
S133P |
probably benign |
Het |
| Opcml |
A |
G |
9: 28,586,566 (GRCm39) |
I95V |
probably damaging |
Het |
| Or10v1 |
A |
T |
19: 11,873,741 (GRCm39) |
M119L |
probably damaging |
Het |
| Or52l1 |
T |
C |
7: 104,830,518 (GRCm39) |
M16V |
|
Het |
| Or8k20 |
T |
C |
2: 86,106,498 (GRCm39) |
E111G |
probably damaging |
Het |
| P2rx3 |
A |
C |
2: 84,852,735 (GRCm39) |
V221G |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,336,752 (GRCm39) |
S135P |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,743 (GRCm39) |
D395G |
probably benign |
Het |
| Scube2 |
T |
C |
7: 109,463,377 (GRCm39) |
N62S |
probably benign |
Het |
| Sema6a |
A |
T |
18: 47,423,182 (GRCm39) |
S275T |
probably damaging |
Het |
| Sirpb1a |
A |
T |
3: 15,444,104 (GRCm39) |
L382Q |
possibly damaging |
Het |
| Snrpn |
T |
A |
7: 59,636,633 (GRCm39) |
|
probably null |
Het |
| Sox5 |
A |
T |
6: 144,100,777 (GRCm39) |
S71T |
possibly damaging |
Het |
| Synpo2l |
G |
T |
14: 20,712,344 (GRCm39) |
T321K |
probably benign |
Het |
| Tex15 |
G |
A |
8: 34,055,233 (GRCm39) |
E285K |
probably null |
Het |
| Tmem126b |
G |
A |
7: 90,118,317 (GRCm39) |
L188F |
probably damaging |
Het |
| Ttll2 |
T |
C |
17: 7,618,767 (GRCm39) |
T387A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,667,155 (GRCm39) |
Y11484H |
unknown |
Het |
| Vmn2r76 |
T |
A |
7: 85,875,231 (GRCm39) |
Y582F |
possibly damaging |
Het |
| Zfp786 |
A |
T |
6: 47,797,729 (GRCm39) |
L403Q |
possibly damaging |
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 |
|
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 |
|
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'- AGTGCTTCTCCTTCAGTTTAGG -3'
(R):5'- TATGACAAAGGGGTATGGCCTG -3'
Sequencing Primer
(F):5'- TCCTTCAGTTTAGGTTTGTTATCTTC -3'
(R):5'- CCTGGGAGGAAAGTGTTTGGGAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation