Incidental Mutation 'R1356:Kprp'
| ID |
156316 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kprp
|
| Ensembl Gene |
ENSMUSG00000059832 |
| Gene Name |
keratinocyte expressed, proline-rich |
| Synonyms |
1110001M24Rik |
| MMRRC Submission |
039421-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R1356 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
92730381-92734554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 92732909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 47
(E47V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072363]
|
| AlphaFold |
B2RUR4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072363
AA Change: E47V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072200
Gene: ENSMUSG00000059832
AA Change: E47V
| 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: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.7%
|
| Validation Efficiency |
100% (34/34) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,342,112 (GRCm39) |
|
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,158,611 (GRCm39) |
|
probably benign |
Het |
| Cd274 |
C |
A |
19: 29,350,970 (GRCm39) |
T22K |
possibly damaging |
Het |
| Cfap45 |
G |
A |
1: 172,355,430 (GRCm39) |
R26Q |
possibly damaging |
Het |
| Dvl3 |
AGCGGCGGCGGCGG |
AGCGGCGGCGG |
16: 20,343,055 (GRCm39) |
|
probably benign |
Het |
| E2f8 |
A |
G |
7: 48,530,018 (GRCm39) |
|
probably benign |
Het |
| Ercc4 |
A |
G |
16: 12,943,146 (GRCm39) |
H255R |
probably damaging |
Het |
| Fam227b |
C |
T |
2: 125,960,928 (GRCm39) |
D234N |
probably damaging |
Het |
| Foxp1 |
A |
T |
6: 98,993,637 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,820,089 (GRCm39) |
V5274D |
probably benign |
Het |
| Gm21718 |
A |
G |
14: 51,554,104 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr85 |
G |
A |
6: 13,836,146 (GRCm39) |
P253S |
probably benign |
Het |
| Grm7 |
A |
T |
6: 111,335,985 (GRCm39) |
I799F |
probably damaging |
Het |
| Inpp1 |
A |
G |
1: 52,836,215 (GRCm39) |
F84L |
possibly damaging |
Het |
| Krt9 |
CTGC |
CTGCNNNNNNNNNNNNNNNNNNNNNTGC |
11: 100,079,640 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,633,634 (GRCm39) |
|
probably benign |
Het |
| Lurap1l |
C |
G |
4: 80,829,767 (GRCm39) |
A59G |
probably benign |
Het |
| Macc1 |
A |
T |
12: 119,410,290 (GRCm39) |
T353S |
probably benign |
Het |
| Mctp2 |
A |
G |
7: 71,814,471 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,700,334 (GRCm39) |
|
probably benign |
Het |
| Mpeg1 |
T |
A |
19: 12,438,689 (GRCm39) |
V49D |
probably damaging |
Het |
| Nos2 |
C |
T |
11: 78,843,629 (GRCm39) |
P859S |
probably benign |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Parn |
A |
T |
16: 13,468,538 (GRCm39) |
Y214* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,374,632 (GRCm39) |
E357G |
possibly damaging |
Het |
| Prex2 |
C |
T |
1: 11,150,316 (GRCm39) |
Q163* |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,189,681 (GRCm39) |
S294T |
probably benign |
Het |
| Slc46a1 |
A |
G |
11: 78,361,550 (GRCm39) |
N399D |
probably benign |
Het |
| Sstr2 |
T |
C |
11: 113,515,720 (GRCm39) |
F213S |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,914,446 (GRCm39) |
E1967G |
possibly damaging |
Het |
| Vmn2r59 |
A |
G |
7: 41,661,218 (GRCm39) |
*866Q |
probably null |
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 |
|
|
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 |
|
R4321: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'- TGCACGTAGGAAACCTGAGATTGAC -3'
(R):5'- TTGCTTACTCACCTGCACCAGGAC -3'
Sequencing Primer
(F):5'- CCTGAGATTGACATGGAGCCTG -3'
(R):5'- CAGGACCATGTGTGACCAG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation