Incidental Mutation 'R0800:Kprp'
ID |
76222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kprp
|
Ensembl Gene |
ENSMUSG00000059832 |
Gene Name |
keratinocyte expressed, proline-rich |
Synonyms |
1110001M24Rik |
MMRRC Submission |
038980-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R0800 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
92730381-92734554 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 92732342 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 236
(Y236C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072200
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072363]
|
AlphaFold |
B2RUR4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000072363
AA Change: Y236C
|
SMART Domains |
Protein: ENSMUSP00000072200 Gene: ENSMUSG00000059832 AA Change: Y236C
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: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.7%
|
Validation Efficiency |
98% (52/53) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
B230217C12Rik |
T |
C |
11: 97,732,086 (GRCm39) |
|
probably benign |
Het |
Cacna1g |
T |
C |
11: 94,317,265 (GRCm39) |
D1498G |
probably damaging |
Het |
Ces3b |
T |
A |
8: 105,811,901 (GRCm39) |
D103E |
possibly damaging |
Het |
Chd5 |
A |
G |
4: 152,440,614 (GRCm39) |
Y158C |
probably damaging |
Het |
Cic |
A |
G |
7: 24,984,662 (GRCm39) |
T1033A |
probably benign |
Het |
Cst13 |
A |
T |
2: 148,672,247 (GRCm39) |
I141F |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,604,855 (GRCm39) |
L1301P |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,923,636 (GRCm39) |
F1201L |
probably benign |
Het |
Dok7 |
T |
C |
5: 35,232,633 (GRCm39) |
|
probably benign |
Het |
Dzip3 |
A |
G |
16: 48,774,171 (GRCm39) |
|
probably benign |
Het |
Eml6 |
A |
G |
11: 29,699,877 (GRCm39) |
V1753A |
probably benign |
Het |
Fer1l4 |
A |
G |
2: 155,887,583 (GRCm39) |
F538L |
possibly damaging |
Het |
Fmo2 |
C |
T |
1: 162,704,383 (GRCm39) |
D508N |
probably benign |
Het |
Gabpb1 |
A |
T |
2: 126,472,248 (GRCm39) |
Y351N |
probably damaging |
Het |
Gnaq |
T |
A |
19: 16,312,428 (GRCm39) |
V230E |
probably damaging |
Het |
Gprc5c |
A |
C |
11: 114,757,537 (GRCm39) |
K48Q |
probably damaging |
Het |
Gzmd |
A |
G |
14: 56,369,948 (GRCm39) |
L11P |
unknown |
Het |
Hbq1b |
A |
C |
11: 32,237,581 (GRCm39) |
H123P |
probably damaging |
Het |
Hibadh |
T |
A |
6: 52,533,490 (GRCm39) |
I209F |
probably damaging |
Het |
Il17f |
G |
T |
1: 20,848,177 (GRCm39) |
C100* |
probably null |
Het |
Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
Itga8 |
A |
T |
2: 12,198,362 (GRCm39) |
V541E |
possibly damaging |
Het |
Kifc5b |
T |
A |
17: 27,142,158 (GRCm39) |
V212D |
probably benign |
Het |
Klra2 |
A |
T |
6: 131,207,137 (GRCm39) |
Y157* |
probably null |
Het |
Mmp12 |
A |
T |
9: 7,357,827 (GRCm39) |
M414L |
possibly damaging |
Het |
Myh6 |
A |
G |
14: 55,190,735 (GRCm39) |
|
probably benign |
Het |
Nlgn2 |
A |
G |
11: 69,716,823 (GRCm39) |
F573L |
possibly damaging |
Het |
Or10j7 |
C |
T |
1: 173,011,627 (GRCm39) |
A125T |
probably damaging |
Het |
Or4c124 |
A |
G |
2: 89,156,008 (GRCm39) |
V172A |
probably benign |
Het |
Pakap |
T |
A |
4: 57,709,650 (GRCm39) |
D198E |
probably benign |
Het |
Papss1 |
T |
A |
3: 131,305,615 (GRCm39) |
|
probably benign |
Het |
Parp4 |
A |
G |
14: 56,827,408 (GRCm39) |
T181A |
probably benign |
Het |
Piwil2 |
A |
T |
14: 70,646,486 (GRCm39) |
|
probably benign |
Het |
Pla2g12b |
A |
G |
10: 59,239,642 (GRCm39) |
N17S |
probably benign |
Het |
Polr3c |
C |
A |
3: 96,626,627 (GRCm39) |
V266L |
probably damaging |
Het |
Pou3f3 |
A |
G |
1: 42,737,527 (GRCm39) |
T408A |
probably damaging |
Het |
Pskh1 |
A |
G |
8: 106,640,238 (GRCm39) |
Y306C |
probably damaging |
Het |
Rom1 |
T |
A |
19: 8,906,272 (GRCm39) |
D89V |
probably damaging |
Het |
Sell |
T |
A |
1: 163,893,770 (GRCm39) |
|
probably null |
Het |
Sox6 |
A |
G |
7: 115,178,249 (GRCm39) |
|
probably null |
Het |
Speg |
T |
C |
1: 75,400,133 (GRCm39) |
S2527P |
probably damaging |
Het |
Stat3 |
A |
G |
11: 100,784,981 (GRCm39) |
|
probably benign |
Het |
Stra6l |
A |
G |
4: 45,882,797 (GRCm39) |
T503A |
probably benign |
Het |
Tapbp |
A |
G |
17: 34,145,227 (GRCm39) |
T375A |
probably benign |
Het |
Tgm6 |
G |
A |
2: 129,985,342 (GRCm39) |
V382M |
possibly damaging |
Het |
Trappc9 |
A |
T |
15: 72,824,981 (GRCm39) |
|
probably benign |
Het |
Txlnb |
A |
G |
10: 17,675,240 (GRCm39) |
N131S |
possibly damaging |
Het |
Usp19 |
A |
G |
9: 108,372,353 (GRCm39) |
E469G |
probably damaging |
Het |
Vmn2r17 |
T |
A |
5: 109,575,192 (GRCm39) |
|
probably benign |
Het |
Zfp750 |
T |
C |
11: 121,402,838 (GRCm39) |
T637A |
probably benign |
Het |
Zhx2 |
A |
C |
15: 57,686,124 (GRCm39) |
I498L |
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 |
|
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 |
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'- CGCTGTGAAGTGTAGCTTCCATAGG -3'
(R):5'- GGCTCCATGTCAATCTCAGGTTTCC -3'
Sequencing Primer
(F):5'- GTGTAGCTTCCATAGGTGCCC -3'
(R):5'- ATGTAGAATGTCCCGCAGTg -3'
|
Posted On |
2013-10-16 |