Incidental Mutation 'R4323:Kprp'
| ID |
323906 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kprp
|
| Ensembl Gene |
ENSMUSG00000059832 |
| Gene Name |
keratinocyte expressed, proline-rich |
| Synonyms |
1110001M24Rik |
| MMRRC Submission |
041094-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R4323 (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: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
95% (59/62) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
A |
G |
4: 62,465,548 (GRCm39) |
Y414C |
probably damaging |
Het |
| Akr1b1 |
T |
C |
6: 34,287,862 (GRCm39) |
T166A |
probably benign |
Het |
| Ankhd1 |
C |
T |
18: 36,711,686 (GRCm39) |
S94L |
probably damaging |
Het |
| B4galt3 |
G |
T |
1: 171,103,515 (GRCm39) |
M68I |
possibly damaging |
Het |
| Bpnt1 |
A |
C |
1: 185,088,786 (GRCm39) |
H312P |
probably benign |
Het |
| Ccdc178 |
T |
A |
18: 22,166,600 (GRCm39) |
K530* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,767,872 (GRCm39) |
E624G |
probably damaging |
Het |
| Clasp2 |
T |
C |
9: 113,719,027 (GRCm39) |
V724A |
possibly damaging |
Het |
| Copa |
G |
T |
1: 171,946,831 (GRCm39) |
C1022F |
probably damaging |
Het |
| Cwf19l2 |
T |
G |
9: 3,430,452 (GRCm39) |
F261L |
probably damaging |
Het |
| Esr1 |
G |
A |
10: 4,951,307 (GRCm39) |
V562M |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,333,716 (GRCm39) |
H643R |
probably damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,648,232 (GRCm39) |
M769L |
probably benign |
Het |
| Fgfr1 |
A |
G |
8: 26,063,915 (GRCm39) |
N814S |
probably benign |
Het |
| Hipk3 |
C |
A |
2: 104,276,916 (GRCm39) |
V388L |
probably damaging |
Het |
| Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
| Itsn1 |
G |
A |
16: 91,615,440 (GRCm39) |
|
probably benign |
Het |
| Jam2 |
T |
C |
16: 84,619,744 (GRCm39) |
|
probably benign |
Het |
| Med23 |
T |
C |
10: 24,746,603 (GRCm39) |
I14T |
probably benign |
Het |
| Mitf |
A |
G |
6: 97,968,910 (GRCm39) |
Y10C |
probably benign |
Het |
| Mpo |
T |
C |
11: 87,686,865 (GRCm39) |
S165P |
probably damaging |
Het |
| Neb |
T |
G |
2: 52,154,122 (GRCm39) |
M2330L |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,884,696 (GRCm39) |
S486P |
probably benign |
Het |
| Or2y1f |
G |
A |
11: 49,184,503 (GRCm39) |
M118I |
probably damaging |
Het |
| Parp6 |
G |
A |
9: 59,537,969 (GRCm39) |
V205I |
possibly damaging |
Het |
| Pate2 |
A |
T |
9: 35,581,767 (GRCm39) |
|
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,802,608 (GRCm39) |
|
probably benign |
Het |
| Pira13 |
A |
G |
7: 3,825,754 (GRCm39) |
S372P |
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 |
| Slitrk3 |
A |
G |
3: 72,958,118 (GRCm39) |
L218P |
probably damaging |
Het |
| Sltm |
T |
C |
9: 70,487,529 (GRCm39) |
I521T |
probably benign |
Het |
| Smchd1 |
A |
G |
17: 71,735,270 (GRCm39) |
I618T |
probably benign |
Het |
| Sox6 |
A |
G |
7: 115,179,798 (GRCm39) |
|
probably null |
Het |
| Sp8 |
A |
G |
12: 118,812,171 (GRCm39) |
I9V |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,434,407 (GRCm39) |
M352L |
possibly damaging |
Het |
| Vmn1r46 |
T |
C |
6: 89,953,349 (GRCm39) |
M66T |
probably benign |
Het |
| Vmn2r111 |
A |
T |
17: 22,792,159 (GRCm39) |
N32K |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,576,406 (GRCm39) |
F469S |
probably benign |
Het |
| Vps13d |
T |
A |
4: 144,879,348 (GRCm39) |
T1486S |
probably benign |
Het |
| Wdr55 |
A |
G |
18: 36,896,153 (GRCm39) |
N281S |
probably benign |
Het |
| Zswim6 |
G |
A |
13: 108,025,938 (GRCm39) |
|
noncoding transcript |
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 |
|
R4321: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'- GTGGACAGTGGCTACCATAGATG -3'
(R):5'- TCCTACAGTTACTGTGAGCCTC -3'
Sequencing Primer
(F):5'- CATAGATGGGCTCTGAGCG -3'
(R):5'- GTGAGCCTCAATTTCAGTCCGG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation