Incidental Mutation 'R6510:Kremen2'
| ID |
519894 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kremen2
|
| Ensembl Gene |
ENSMUSG00000040680 |
| Gene Name |
kringle containing transmembrane protein 2 |
| Synonyms |
Krm2, 2900054E04Rik |
| MMRRC Submission |
044423-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6510 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
23960171-23964807 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23962629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 128
(V128A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046369
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024702]
[ENSMUST00000046525]
|
| AlphaFold |
Q8K1S7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024702
|
| SMART Domains |
Protein: ENSMUSP00000024702
Gene: ENSMUSG00000023909
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HlyIII
|
43 |
254 |
1e-26 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046525
AA Change: V128A
PolyPhen 2
Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046369
Gene: ENSMUSG00000040680
AA Change: V128A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
KR
|
33 |
120 |
2.44e-18 |
SMART |
|
Pfam:WSC
|
123 |
204 |
1.3e-20 |
PFAM |
|
CUB
|
218 |
325 |
8.04e-15 |
SMART |
|
Blast:CUB
|
351 |
422 |
8e-6 |
BLAST |
|
low complexity region
|
446 |
461 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181291
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a high-affinity dickkopf homolog 1 (DKK1) transmembrane receptor. A similar protein in mouse functions interacts with with DKK1 to block wingless (WNT)/beta-catenin signaling. The encoded protein forms a ternary membrane complex with DKK1 and the WNT receptor lipoprotein receptor-related protein 6 (LRP6), and induces rapid endocytosis and removal of LRP6 from the plasma membrane. It contains extracellular kringle, WSC, and CUB domains. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit no abnormal phenotype. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
G |
A |
19: 43,770,645 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,707,609 (GRCm39) |
T1266A |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,527,743 (GRCm39) |
N1758S |
probably damaging |
Het |
| C130073F10Rik |
T |
A |
4: 101,747,482 (GRCm39) |
E182D |
probably benign |
Het |
| Ears2 |
T |
C |
7: 121,662,217 (GRCm39) |
D77G |
probably damaging |
Het |
| Ephb3 |
A |
G |
16: 21,036,861 (GRCm39) |
D108G |
probably damaging |
Het |
| Foxp4 |
A |
G |
17: 48,186,335 (GRCm39) |
F452S |
unknown |
Het |
| Gas2 |
T |
C |
7: 51,593,460 (GRCm39) |
L180P |
probably damaging |
Het |
| Gm28168 |
T |
C |
1: 117,875,685 (GRCm39) |
Y105H |
probably damaging |
Het |
| Ifi205 |
T |
A |
1: 173,845,131 (GRCm39) |
D217V |
probably damaging |
Het |
| Igsf9 |
C |
G |
1: 172,317,864 (GRCm39) |
Q74E |
possibly damaging |
Het |
| Itga2 |
A |
T |
13: 115,009,816 (GRCm39) |
F380I |
probably damaging |
Het |
| Mmp20 |
T |
A |
9: 7,643,967 (GRCm39) |
N218K |
probably damaging |
Het |
| Msh3 |
T |
A |
13: 92,489,772 (GRCm39) |
K73* |
probably null |
Het |
| Or4c103 |
C |
T |
2: 88,513,302 (GRCm39) |
R258H |
probably benign |
Het |
| Pate2 |
T |
A |
9: 35,581,018 (GRCm39) |
C11S |
probably null |
Het |
| Prkag2 |
G |
T |
5: 25,305,286 (GRCm39) |
|
probably benign |
Het |
| Serpini2 |
T |
C |
3: 75,159,875 (GRCm39) |
D297G |
probably damaging |
Het |
| Sgca |
A |
T |
11: 94,854,058 (GRCm39) |
L137Q |
probably benign |
Het |
| Treml4 |
A |
G |
17: 48,581,472 (GRCm39) |
D249G |
probably benign |
Het |
| Vmn1r226 |
T |
C |
17: 20,908,115 (GRCm39) |
C116R |
probably benign |
Het |
|
| Other mutations in Kremen2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02327:Kremen2
|
APN |
17 |
23,962,543 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0057:Kremen2
|
UTSW |
17 |
23,962,202 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0369:Kremen2
|
UTSW |
17 |
23,961,784 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0835:Kremen2
|
UTSW |
17 |
23,961,811 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0847:Kremen2
|
UTSW |
17 |
23,963,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Kremen2
|
UTSW |
17 |
23,962,373 (GRCm39) |
splice site |
probably null |
|
|
R2056:Kremen2
|
UTSW |
17 |
23,961,691 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2057:Kremen2
|
UTSW |
17 |
23,961,691 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2058:Kremen2
|
UTSW |
17 |
23,961,691 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2173:Kremen2
|
UTSW |
17 |
23,961,770 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5553:Kremen2
|
UTSW |
17 |
23,960,776 (GRCm39) |
unclassified |
probably benign |
|
|
R5583:Kremen2
|
UTSW |
17 |
23,961,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6057:Kremen2
|
UTSW |
17 |
23,961,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7068:Kremen2
|
UTSW |
17 |
23,960,859 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R7227:Kremen2
|
UTSW |
17 |
23,963,573 (GRCm39) |
nonsense |
probably null |
|
|
R7382:Kremen2
|
UTSW |
17 |
23,962,526 (GRCm39) |
splice site |
probably null |
|
|
R8113:Kremen2
|
UTSW |
17 |
23,962,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8167:Kremen2
|
UTSW |
17 |
23,962,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8328:Kremen2
|
UTSW |
17 |
23,961,745 (GRCm39) |
missense |
probably benign |
|
|
R8544:Kremen2
|
UTSW |
17 |
23,961,201 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8726:Kremen2
|
UTSW |
17 |
23,961,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9017:Kremen2
|
UTSW |
17 |
23,964,737 (GRCm39) |
start gained |
probably benign |
|
|
R9064:Kremen2
|
UTSW |
17 |
23,961,736 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9216:Kremen2
|
UTSW |
17 |
23,962,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9333:Kremen2
|
UTSW |
17 |
23,962,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGAAGTTAGTGTCAAGTTTGGC -3'
(R):5'- TATCTCCCTCCGGACCACAG -3'
Sequencing Primer
(F):5'- AAGTTAGTGTCAAGTTTGGCATTTG -3'
(R):5'- ACCCAGACGGTGATGTGCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation