Incidental Mutation 'R3607:Kprp'
| ID |
269106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kprp
|
| Ensembl Gene |
ENSMUSG00000059832 |
| Gene Name |
keratinocyte expressed, proline-rich |
| Synonyms |
1110001M24Rik |
| MMRRC Submission |
040671-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.057)
|
| Stock # |
R3607 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
92730381-92734554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 92731588 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Histidine
at position 487
(Q487H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072363]
|
| AlphaFold |
B2RUR4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000072363
AA Change: Q487H
|
| SMART Domains |
Protein: ENSMUSP00000072200
Gene: ENSMUSG00000059832
AA Change: Q487H
| 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: 98.5%
- 10x: 96.9%
- 20x: 93.3%
|
| Validation Efficiency |
98% (48/49) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930510E17Rik |
C |
A |
9: 53,191,083 (GRCm39) |
|
noncoding transcript |
Het |
| Adnp2 |
A |
T |
18: 80,172,284 (GRCm39) |
N708K |
probably damaging |
Het |
| Arhgef17 |
C |
A |
7: 100,580,379 (GRCm39) |
G190W |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,408,406 (GRCm39) |
M2431K |
probably benign |
Het |
| Aurkc |
A |
G |
7: 7,005,859 (GRCm39) |
Y157C |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,053,485 (GRCm39) |
N242K |
possibly damaging |
Het |
| Cracr2b |
C |
T |
7: 141,046,059 (GRCm39) |
P370S |
possibly damaging |
Het |
| Etv1 |
A |
G |
12: 38,881,085 (GRCm39) |
Y66C |
probably damaging |
Het |
| F830016B08Rik |
A |
T |
18: 60,433,780 (GRCm39) |
K288* |
probably null |
Het |
| Fam131a |
C |
T |
16: 20,520,345 (GRCm39) |
P181L |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,172,511 (GRCm39) |
E2734V |
probably damaging |
Het |
| Fgfrl1 |
C |
A |
5: 108,853,289 (GRCm39) |
T213K |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
| Gmfg |
T |
A |
7: 28,140,961 (GRCm39) |
|
probably null |
Het |
| Gtpbp8 |
T |
C |
16: 44,564,119 (GRCm39) |
Y184C |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,141,646 (GRCm39) |
E2G |
probably damaging |
Het |
| Itpr2 |
T |
G |
6: 146,129,099 (GRCm39) |
T2005P |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,760,493 (GRCm39) |
T485M |
probably damaging |
Het |
| Kng1 |
T |
C |
16: 22,886,552 (GRCm39) |
F112L |
probably damaging |
Het |
| Lctl |
T |
C |
9: 64,040,475 (GRCm39) |
Y473H |
probably damaging |
Het |
| Lpin2 |
T |
A |
17: 71,536,387 (GRCm39) |
D225E |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,119,775 (GRCm39) |
V177A |
probably damaging |
Het |
| Nkrf |
T |
G |
X: 36,153,730 (GRCm39) |
N184T |
probably benign |
Het |
| Nt5c1b |
A |
G |
12: 10,427,236 (GRCm39) |
N329D |
probably damaging |
Het |
| Ogdhl |
T |
A |
14: 32,057,318 (GRCm39) |
V308E |
probably damaging |
Het |
| Or14a258 |
A |
G |
7: 86,034,903 (GRCm39) |
C322R |
probably benign |
Het |
| Pcnx1 |
T |
A |
12: 81,975,066 (GRCm39) |
F791I |
probably damaging |
Het |
| Prkg2 |
G |
T |
5: 99,095,236 (GRCm39) |
T616K |
probably damaging |
Het |
| Psmd3 |
C |
T |
11: 98,581,780 (GRCm39) |
R302W |
probably damaging |
Het |
| Ptpn1 |
A |
G |
2: 167,817,427 (GRCm39) |
S355G |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,040,917 (GRCm39) |
N398D |
probably benign |
Het |
| Ranbp10 |
A |
G |
8: 106,502,667 (GRCm39) |
S300P |
probably benign |
Het |
| Rbl1 |
A |
T |
2: 157,019,153 (GRCm39) |
F531I |
probably damaging |
Het |
| Rgl3 |
A |
G |
9: 21,898,987 (GRCm39) |
S151P |
probably damaging |
Het |
| Rnf213 |
C |
A |
11: 119,332,802 (GRCm39) |
C2670* |
probably null |
Het |
| Tex16 |
T |
A |
X: 111,003,667 (GRCm39) |
S159T |
probably damaging |
Het |
| Tnfaip3 |
A |
G |
10: 18,881,350 (GRCm39) |
I312T |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,420,427 (GRCm39) |
T141A |
probably benign |
Het |
| Trpm7 |
T |
C |
2: 126,638,348 (GRCm39) |
|
probably benign |
Het |
| Usp11 |
T |
G |
X: 20,580,871 (GRCm39) |
F426L |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,851,420 (GRCm39) |
T1180K |
probably damaging |
Het |
| Wasf1 |
G |
C |
10: 40,812,380 (GRCm39) |
A390P |
unknown |
Het |
| Yif1b |
C |
T |
7: 28,937,835 (GRCm39) |
A7V |
possibly 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 |
|
|
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'- ACAAGGCTCTGGACTGGAAC -3'
(R):5'- CTTGTAGGCCACAGCATCTTG -3'
Sequencing Primer
(F):5'- CATTGGCTCTGGATGAGGAAG -3'
(R):5'- TGACCGGTCTCCAGAATCATC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation