Incidental Mutation 'R3755:Kprp'
ID |
271377 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kprp
|
Ensembl Gene |
ENSMUSG00000059832 |
Gene Name |
keratinocyte expressed, proline-rich |
Synonyms |
1110001M24Rik |
MMRRC Submission |
040738-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.057)
|
Stock # |
R3755 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
92730381-92734554 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 92732346 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 235
(S235P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072363]
|
AlphaFold |
B2RUR4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000072363
AA Change: S235P
|
SMART Domains |
Protein: ENSMUSP00000072200 Gene: ENSMUSG00000059832 AA Change: S235P
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 |
0.0869 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
Validation Efficiency |
96% (50/52) |
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 |
C |
A |
10: 29,098,110 (GRCm39) |
S169Y |
probably damaging |
Het |
Abcb1a |
G |
A |
5: 8,797,403 (GRCm39) |
V1225M |
possibly damaging |
Het |
Adamdec1 |
A |
T |
14: 68,814,587 (GRCm39) |
I130N |
probably damaging |
Het |
Atf7ip |
T |
A |
6: 136,537,815 (GRCm39) |
N357K |
probably benign |
Het |
Bace2 |
C |
G |
16: 97,237,857 (GRCm39) |
T436R |
probably benign |
Het |
Capn13 |
G |
A |
17: 73,638,114 (GRCm39) |
Q430* |
probably null |
Het |
Ccdc30 |
A |
T |
4: 119,225,005 (GRCm39) |
|
probably null |
Het |
Ces5a |
T |
C |
8: 94,255,130 (GRCm39) |
T184A |
probably benign |
Het |
Cntnap5c |
T |
C |
17: 58,411,594 (GRCm39) |
C493R |
possibly damaging |
Het |
Creb3l2 |
A |
T |
6: 37,340,961 (GRCm39) |
I146N |
possibly damaging |
Het |
Erich3 |
A |
G |
3: 154,469,958 (GRCm39) |
|
probably benign |
Het |
Etl4 |
G |
A |
2: 20,748,348 (GRCm39) |
V27I |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fsip2 |
G |
A |
2: 82,808,561 (GRCm39) |
D1627N |
probably benign |
Het |
Gcdh |
A |
G |
8: 85,620,109 (GRCm39) |
|
probably benign |
Het |
Kcna7 |
T |
C |
7: 45,058,369 (GRCm39) |
F219L |
probably benign |
Het |
Kdm3b |
T |
C |
18: 34,941,349 (GRCm39) |
L280S |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,933,060 (GRCm39) |
V2073D |
probably damaging |
Het |
Lpp |
A |
G |
16: 24,663,911 (GRCm39) |
H396R |
probably benign |
Het |
Lrch4 |
T |
A |
5: 137,635,992 (GRCm39) |
D348E |
probably damaging |
Het |
Mcm9 |
T |
C |
10: 53,502,048 (GRCm39) |
N179S |
probably benign |
Het |
Mettl13 |
T |
C |
1: 162,371,789 (GRCm39) |
E360G |
probably damaging |
Het |
Nfib |
A |
T |
4: 82,241,936 (GRCm39) |
S418R |
probably damaging |
Het |
Or52b1 |
A |
G |
7: 104,979,358 (GRCm39) |
F14L |
probably damaging |
Het |
Or8s2 |
A |
C |
15: 98,276,463 (GRCm39) |
I176S |
probably benign |
Het |
Pcdha8 |
G |
A |
18: 37,126,741 (GRCm39) |
V408M |
probably damaging |
Het |
Pcdhb3 |
T |
C |
18: 37,435,878 (GRCm39) |
F615L |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,359,171 (GRCm39) |
T844I |
probably damaging |
Het |
Pkhd1l1 |
A |
T |
15: 44,452,802 (GRCm39) |
E3909V |
probably damaging |
Het |
Poldip3 |
A |
G |
15: 83,015,676 (GRCm39) |
|
probably benign |
Het |
Ptpn1 |
T |
C |
2: 167,816,143 (GRCm39) |
I219T |
probably damaging |
Het |
Rad18 |
T |
C |
6: 112,670,432 (GRCm39) |
N44S |
probably damaging |
Het |
Reep5 |
T |
C |
18: 34,505,527 (GRCm39) |
Y48C |
probably damaging |
Het |
Rgl2 |
C |
A |
17: 34,151,571 (GRCm39) |
A205D |
probably benign |
Het |
Rundc3a |
A |
G |
11: 102,290,085 (GRCm39) |
I175V |
possibly damaging |
Het |
Slamf1 |
C |
T |
1: 171,604,728 (GRCm39) |
A166V |
probably damaging |
Het |
Slc4a5 |
A |
G |
6: 83,265,285 (GRCm39) |
D693G |
probably benign |
Het |
Snap23 |
T |
A |
2: 120,416,726 (GRCm39) |
C79S |
probably damaging |
Het |
Spag6l |
A |
C |
16: 16,580,884 (GRCm39) |
|
probably null |
Het |
Trappc13 |
C |
T |
13: 104,305,068 (GRCm39) |
D40N |
probably benign |
Het |
Trav4-3 |
C |
A |
14: 53,836,596 (GRCm39) |
S20R |
probably benign |
Het |
Tssk2 |
G |
A |
16: 17,716,827 (GRCm39) |
E77K |
probably damaging |
Het |
Ubap2 |
A |
G |
4: 41,195,482 (GRCm39) |
F1051S |
probably damaging |
Het |
Ugt3a1 |
A |
G |
15: 9,367,498 (GRCm39) |
T414A |
probably benign |
Het |
Urod |
C |
T |
4: 116,850,601 (GRCm39) |
C66Y |
probably damaging |
Het |
Vmn1r234 |
A |
G |
17: 21,449,271 (GRCm39) |
K62E |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,578,106 (GRCm39) |
S460P |
probably damaging |
Het |
Zbbx |
C |
T |
3: 75,012,978 (GRCm39) |
G151E |
probably damaging |
Het |
Zbtb7a |
C |
T |
10: 80,980,100 (GRCm39) |
T98M |
probably damaging |
Het |
Zfp524 |
C |
A |
7: 5,020,884 (GRCm39) |
H137Q |
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 |
|
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'- ATCGGCTGGTACTCTGAGAC -3'
(R):5'- ACACTTATGTAGAATGTCCCGC -3'
Sequencing Primer
(F):5'- ACCGGCGCTGTGAAGTGTAG -3'
(R):5'- ACTTATGTAGAATGTCCCGCAGTGG -3'
|
Posted On |
2015-03-18 |