Incidental Mutation 'R4321:Kprp'
| ID |
323810 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kprp
|
| Ensembl Gene |
ENSMUSG00000059832 |
| Gene Name |
keratinocyte expressed, proline-rich |
| Synonyms |
1110001M24Rik |
| MMRRC Submission |
041662-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R4321 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
92730381-92734554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 92732163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 296
(R296W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072363]
|
| AlphaFold |
B2RUR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072363
AA Change: R296W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072200
Gene: ENSMUSG00000059832
AA Change: R296W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
18 |
N/A |
INTRINSIC |
|
low complexity region
|
177 |
199 |
N/A |
INTRINSIC |
|
low complexity region
|
292 |
302 |
N/A |
INTRINSIC |
|
low complexity region
|
325 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
534 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
95% (56/59) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a proline-rich skin protein possibly involved in keratinocyte differentiation. [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,100,887 (GRCm39) |
D420V |
probably damaging |
Het |
| Als2 |
A |
C |
1: 59,206,613 (GRCm39) |
|
probably benign |
Het |
| Ankrd9 |
A |
G |
12: 110,943,074 (GRCm39) |
L287P |
probably damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,953,456 (GRCm39) |
D460E |
probably damaging |
Het |
| Bbof1 |
A |
T |
12: 84,473,902 (GRCm39) |
R411* |
probably null |
Het |
| Camta2 |
A |
T |
11: 70,569,151 (GRCm39) |
L598Q |
probably damaging |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Cep85 |
G |
A |
4: 133,859,596 (GRCm39) |
T689I |
probably damaging |
Het |
| Clvs1 |
T |
C |
4: 9,282,029 (GRCm39) |
|
probably benign |
Het |
| Cpped1 |
T |
C |
16: 11,705,610 (GRCm39) |
T65A |
probably benign |
Het |
| Daxx |
T |
C |
17: 34,130,380 (GRCm39) |
Y132H |
possibly damaging |
Het |
| Dock7 |
T |
C |
4: 98,960,691 (GRCm39) |
E279G |
probably damaging |
Het |
| Dok7 |
A |
T |
5: 35,237,141 (GRCm39) |
|
probably benign |
Het |
| Dthd1 |
A |
T |
5: 62,976,033 (GRCm39) |
I236F |
probably damaging |
Het |
| Egf |
A |
G |
3: 129,499,783 (GRCm39) |
C285R |
probably damaging |
Het |
| Epha4 |
T |
A |
1: 77,483,850 (GRCm39) |
|
probably null |
Het |
| Fbxw13 |
A |
C |
9: 109,010,503 (GRCm39) |
I378M |
probably benign |
Het |
| Gaa |
A |
T |
11: 119,160,963 (GRCm39) |
N2I |
probably benign |
Het |
| Gad1 |
G |
A |
2: 70,420,174 (GRCm39) |
D353N |
probably damaging |
Het |
| Ggcx |
A |
G |
6: 72,405,803 (GRCm39) |
S545G |
probably benign |
Het |
| Gm2663 |
G |
T |
6: 40,974,530 (GRCm39) |
Q87K |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,385,503 (GRCm39) |
E847G |
probably damaging |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Ibtk |
T |
C |
9: 85,617,125 (GRCm39) |
D149G |
possibly damaging |
Het |
| Ice1 |
A |
T |
13: 70,751,229 (GRCm39) |
V1619E |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,330,948 (GRCm39) |
E1752G |
probably benign |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
G |
A |
17: 68,078,078 (GRCm39) |
G1171D |
probably benign |
Het |
| Lonp2 |
A |
G |
8: 87,392,356 (GRCm39) |
H474R |
probably damaging |
Het |
| Mark1 |
G |
T |
1: 184,630,871 (GRCm39) |
D746E |
possibly damaging |
Het |
| Mlxipl |
C |
T |
5: 135,164,304 (GRCm39) |
Q167* |
probably null |
Het |
| Myo3a |
A |
T |
2: 22,271,966 (GRCm39) |
N162Y |
probably damaging |
Het |
| Myo5a |
T |
G |
9: 75,124,812 (GRCm39) |
V1787G |
probably damaging |
Het |
| Myorg |
C |
T |
4: 41,498,767 (GRCm39) |
V288I |
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 90,166,005 (GRCm39) |
E227V |
probably damaging |
Het |
| Orc1 |
G |
A |
4: 108,445,973 (GRCm39) |
M30I |
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
possibly damaging |
Het |
| Rufy2 |
A |
G |
10: 62,818,459 (GRCm39) |
D5G |
probably damaging |
Het |
| Rufy4 |
A |
T |
1: 74,171,943 (GRCm39) |
D222V |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Septin1 |
G |
A |
7: 126,816,200 (GRCm39) |
P77S |
probably damaging |
Het |
| Slamf1 |
T |
C |
1: 171,602,694 (GRCm39) |
|
probably null |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
T |
15: 9,679,429 (GRCm39) |
I636K |
possibly damaging |
Het |
| Tshz2 |
T |
A |
2: 169,727,465 (GRCm39) |
I218N |
possibly damaging |
Het |
| Txnl1 |
T |
C |
18: 63,812,561 (GRCm39) |
T78A |
possibly damaging |
Het |
| Ulk4 |
T |
G |
9: 120,903,062 (GRCm39) |
R1138S |
probably benign |
Het |
| Vamp8 |
A |
C |
6: 72,362,536 (GRCm39) |
V88G |
possibly damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Zfp850 |
A |
C |
7: 27,688,825 (GRCm39) |
F461C |
probably damaging |
Het |
|
| Other mutations in Kprp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00727:Kprp
|
APN |
3 |
92,731,734 (GRCm39) |
missense |
unknown |
|
|
IGL01566:Kprp
|
APN |
3 |
92,731,271 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0062:Kprp
|
UTSW |
3 |
92,731,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0062:Kprp
|
UTSW |
3 |
92,731,989 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0244:Kprp
|
UTSW |
3 |
92,732,718 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0364:Kprp
|
UTSW |
3 |
92,731,642 (GRCm39) |
nonsense |
probably null |
|
|
R0414:Kprp
|
UTSW |
3 |
92,733,020 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Kprp
|
UTSW |
3 |
92,732,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Kprp
|
UTSW |
3 |
92,731,664 (GRCm39) |
missense |
unknown |
|
|
R0800:Kprp
|
UTSW |
3 |
92,732,342 (GRCm39) |
missense |
unknown |
|
|
R1356:Kprp
|
UTSW |
3 |
92,732,909 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1550:Kprp
|
UTSW |
3 |
92,732,033 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1571:Kprp
|
UTSW |
3 |
92,732,689 (GRCm39) |
nonsense |
probably null |
|
|
R1618:Kprp
|
UTSW |
3 |
92,732,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2424:Kprp
|
UTSW |
3 |
92,732,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2680:Kprp
|
UTSW |
3 |
92,731,770 (GRCm39) |
missense |
unknown |
|
|
R3605:Kprp
|
UTSW |
3 |
92,731,588 (GRCm39) |
missense |
unknown |
|
|
R3606:Kprp
|
UTSW |
3 |
92,731,588 (GRCm39) |
missense |
unknown |
|
|
R3607:Kprp
|
UTSW |
3 |
92,731,588 (GRCm39) |
missense |
unknown |
|
|
R3755:Kprp
|
UTSW |
3 |
92,732,346 (GRCm39) |
missense |
unknown |
|
|
R4116:Kprp
|
UTSW |
3 |
92,731,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4204:Kprp
|
UTSW |
3 |
92,732,046 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4320:Kprp
|
UTSW |
3 |
92,732,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4323:Kprp
|
UTSW |
3 |
92,732,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Kprp
|
UTSW |
3 |
92,731,271 (GRCm39) |
missense |
probably benign |
0.11 |
|
R4864:Kprp
|
UTSW |
3 |
92,731,829 (GRCm39) |
missense |
unknown |
|
|
R5133:Kprp
|
UTSW |
3 |
92,731,829 (GRCm39) |
missense |
unknown |
|
|
R5583:Kprp
|
UTSW |
3 |
92,731,643 (GRCm39) |
missense |
unknown |
|
|
R5902:Kprp
|
UTSW |
3 |
92,731,835 (GRCm39) |
missense |
unknown |
|
|
R5990:Kprp
|
UTSW |
3 |
92,732,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Kprp
|
UTSW |
3 |
92,731,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6633:Kprp
|
UTSW |
3 |
92,732,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7025:Kprp
|
UTSW |
3 |
92,732,504 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7269:Kprp
|
UTSW |
3 |
92,731,178 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7951:Kprp
|
UTSW |
3 |
92,731,637 (GRCm39) |
missense |
unknown |
|
|
R8298:Kprp
|
UTSW |
3 |
92,732,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9074:Kprp
|
UTSW |
3 |
92,732,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9140:Kprp
|
UTSW |
3 |
92,732,458 (GRCm39) |
nonsense |
probably null |
|
|
R9273:Kprp
|
UTSW |
3 |
92,733,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9405:Kprp
|
UTSW |
3 |
92,731,560 (GRCm39) |
missense |
unknown |
|
|
Z1088:Kprp
|
UTSW |
3 |
92,732,364 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAGTGGCTACCATAGATG -3'
(R):5'- CCTACAGTTACTGTGAGCCTC -3'
Sequencing Primer
(F):5'- CATAGATGGGCTCTGAGCG -3'
(R):5'- GTGAGCCTCAATTTCAGTCCGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation