Incidental Mutation 'R7785:Prr27'
| ID |
599488 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Prr27
|
| Ensembl Gene |
ENSMUSG00000002240 |
| Gene Name |
proline rich 27 |
| Synonyms |
4930432K09Rik |
| MMRRC Submission |
045841-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7785 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
87973556-87994245 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 87991131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 248
(S248P)
|
| 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: S240P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002310
Gene: ENSMUSG00000002240
AA Change: S240P
| 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: S248P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000098617
Gene: ENSMUSG00000002240
AA Change: S248P
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
91% (40/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
A |
7: 41,262,617 (GRCm39) |
F70L |
probably benign |
Het |
| Abca8a |
T |
C |
11: 109,965,032 (GRCm39) |
|
probably null |
Het |
| Adamts5 |
T |
C |
16: 85,659,892 (GRCm39) |
D800G |
probably damaging |
Het |
| Afm |
T |
C |
5: 90,698,032 (GRCm39) |
V478A |
possibly damaging |
Het |
| Akap7 |
T |
A |
10: 25,096,559 (GRCm39) |
K233M |
probably damaging |
Het |
| Apbb1 |
T |
C |
7: 105,216,630 (GRCm39) |
N61S |
probably benign |
Het |
| Atp8b1 |
A |
T |
18: 64,689,921 (GRCm39) |
S604T |
probably damaging |
Het |
| Bcl2l14 |
G |
T |
6: 134,409,223 (GRCm39) |
V266F |
possibly damaging |
Het |
| Btnl2 |
T |
A |
17: 34,580,137 (GRCm39) |
H223Q |
probably benign |
Het |
| Cap2 |
A |
G |
13: 46,789,224 (GRCm39) |
E255G |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,812,095 (GRCm39) |
F1366Y |
possibly damaging |
Het |
| Cryl1 |
A |
T |
14: 57,512,938 (GRCm39) |
S310T |
probably benign |
Het |
| Cyp2c69 |
A |
G |
19: 39,839,610 (GRCm39) |
C338R |
probably damaging |
Het |
| Dclre1c |
C |
T |
2: 3,425,273 (GRCm39) |
Q7* |
probably null |
Het |
| Dhcr7 |
A |
G |
7: 143,399,209 (GRCm39) |
E193G |
probably damaging |
Het |
| Dnaaf10 |
T |
A |
11: 17,179,785 (GRCm39) |
V262E |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,833,345 (GRCm39) |
K652E |
probably damaging |
Het |
| Emilin3 |
A |
T |
2: 160,752,694 (GRCm39) |
C85* |
probably null |
Het |
| Erp44 |
G |
A |
4: 48,243,531 (GRCm39) |
P26S |
probably benign |
Het |
| Fxr1 |
A |
G |
3: 34,100,403 (GRCm39) |
I121V |
|
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gpc5 |
A |
G |
14: 115,654,632 (GRCm39) |
N484S |
probably benign |
Het |
| Grm8 |
A |
G |
6: 27,618,636 (GRCm39) |
V402A |
probably damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Iqgap1 |
A |
G |
7: 80,387,917 (GRCm39) |
L910P |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,222,253 (GRCm39) |
F13I |
possibly damaging |
Het |
| Lmtk2 |
T |
C |
5: 144,111,571 (GRCm39) |
S764P |
probably benign |
Het |
| Ndufs1 |
T |
C |
1: 63,186,558 (GRCm39) |
D637G |
probably damaging |
Het |
| Nnmt |
G |
A |
9: 48,503,309 (GRCm39) |
S239F |
probably benign |
Het |
| Pdcd11 |
A |
G |
19: 47,093,125 (GRCm39) |
I468V |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,406,965 (GRCm39) |
W2401R |
probably damaging |
Het |
| Plec |
C |
A |
15: 76,090,029 (GRCm39) |
V104F |
unknown |
Het |
| Polq |
A |
G |
16: 36,848,239 (GRCm39) |
Y282C |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,265,996 (GRCm39) |
V590E |
probably damaging |
Het |
| Ros1 |
T |
C |
10: 52,038,944 (GRCm39) |
E351G |
probably damaging |
Het |
| Scn11a |
T |
C |
9: 119,645,622 (GRCm39) |
I111V |
probably benign |
Het |
| Slc35a1 |
A |
G |
4: 34,675,148 (GRCm39) |
L130S |
probably damaging |
Het |
| Slc39a12 |
T |
C |
2: 14,425,029 (GRCm39) |
L420P |
probably damaging |
Het |
| Sp140 |
T |
A |
1: 85,547,819 (GRCm39) |
I182K |
probably benign |
Het |
| Spata31f3 |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG |
4: 42,871,823 (GRCm39) |
|
probably benign |
Het |
| Trpv3 |
C |
A |
11: 73,168,558 (GRCm39) |
H42N |
probably benign |
Het |
| Zan |
A |
G |
5: 137,427,405 (GRCm39) |
S2411P |
unknown |
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 |
|
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'- GGCAGTCAAACTTGGAACACC -3'
(R):5'- AGTTTTCCCACAACAGACTGG -3'
Sequencing Primer
(F):5'- ACTTGGAACACCCGTGC -3'
(R):5'- AGACTGGCTCGCCATAAGTTCAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation