Incidental Mutation 'R6670:Wnt2'
| ID |
527094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wnt2
|
| Ensembl Gene |
ENSMUSG00000010797 |
| Gene Name |
wingless-type MMTV integration site family, member 2 |
| Synonyms |
Mirp, 2610510E18Rik, Int1l1, m-irp, Irp, Wnt2a, Wnt-2 |
| MMRRC Submission |
044790-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.530)
|
| Stock # |
R6670 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
17988939-18030584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 18028091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 48
(V48L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000010941
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010941]
|
| AlphaFold |
P21552 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000010941
AA Change: V48L
PolyPhen 2
Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000010941
Gene: ENSMUSG00000010797
AA Change: V48L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
WNT1
|
43 |
349 |
5.1e-213 |
SMART |
|
| Meta Mutation Damage Score |
0.1212 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
100% (38/38) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the WNT gene family. The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants exhibit impaired placental vascularization, runting and 50% perinatal mortality resulting from difficulties in breathing and nursing. Survivors of the perinatal period tend to recover, and adults are healthy and fertile. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(4) : Targeted, knock-out(1) Targeted, other(3)
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
G |
19: 43,827,850 (GRCm39) |
1544 |
probably benign |
Het |
| Acsm3 |
T |
A |
7: 119,379,978 (GRCm39) |
|
probably null |
Het |
| AW551984 |
T |
C |
9: 39,504,292 (GRCm39) |
D558G |
probably damaging |
Het |
| Bcl9l |
GTGAACATGAACATGAACATGAAC |
GTGAACATGAACATGAACATGAACATGAAC |
9: 44,418,369 (GRCm39) |
|
probably benign |
Het |
| Brd8dc |
A |
G |
18: 34,719,319 (GRCm39) |
V167A |
possibly damaging |
Het |
| Ccdc12 |
T |
G |
9: 110,537,595 (GRCm39) |
|
probably null |
Het |
| Ctsl |
T |
C |
13: 64,511,916 (GRCm39) |
|
probably null |
Het |
| Cul1 |
T |
A |
6: 47,494,068 (GRCm39) |
D460E |
probably damaging |
Het |
| Dnttip2 |
T |
A |
3: 122,069,870 (GRCm39) |
S362T |
probably damaging |
Het |
| Fbxw16 |
T |
A |
9: 109,267,280 (GRCm39) |
D317V |
probably damaging |
Het |
| Fbxw9 |
T |
A |
8: 85,788,839 (GRCm39) |
N196K |
possibly damaging |
Het |
| Grap |
A |
G |
11: 61,551,064 (GRCm39) |
D32G |
probably damaging |
Het |
| Hhatl |
T |
C |
9: 121,618,137 (GRCm39) |
D206G |
probably damaging |
Het |
| Hrnr |
A |
T |
3: 93,239,192 (GRCm39) |
Q3143H |
unknown |
Het |
| Ighv1-62-1 |
T |
C |
12: 115,350,529 (GRCm39) |
Y46C |
probably damaging |
Het |
| Krtap16-3 |
A |
T |
16: 88,759,540 (GRCm39) |
Y58N |
unknown |
Het |
| Mef2c |
A |
G |
13: 83,810,716 (GRCm39) |
K384R |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,702,084 (GRCm39) |
Y476H |
possibly damaging |
Het |
| Oxgr1 |
A |
T |
14: 120,259,669 (GRCm39) |
N179K |
probably damaging |
Het |
| Polk |
G |
A |
13: 96,633,138 (GRCm39) |
Q302* |
probably null |
Het |
| Rab3gap1 |
T |
A |
1: 127,858,512 (GRCm39) |
S540R |
probably benign |
Het |
| Samd5 |
A |
T |
10: 9,504,808 (GRCm39) |
|
probably null |
Het |
| Sema6d |
GTGATAC |
G |
2: 124,496,762 (GRCm39) |
|
probably benign |
Het |
| Slc1a6 |
C |
A |
10: 78,623,646 (GRCm39) |
A15D |
probably benign |
Het |
| Slc8a1 |
A |
G |
17: 81,956,883 (GRCm39) |
C52R |
probably damaging |
Het |
| Sod2 |
T |
A |
17: 13,227,252 (GRCm39) |
Y69N |
possibly damaging |
Het |
| Tank |
T |
C |
2: 61,474,768 (GRCm39) |
|
probably null |
Het |
| Tbc1d23 |
A |
T |
16: 57,034,580 (GRCm39) |
I73N |
probably benign |
Het |
| Tnf |
A |
C |
17: 35,420,800 (GRCm39) |
M6R |
possibly damaging |
Het |
| Trmt2a |
C |
T |
16: 18,068,341 (GRCm39) |
A16V |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,556,055 (GRCm39) |
Y21990H |
probably damaging |
Het |
| Uaca |
C |
T |
9: 60,779,306 (GRCm39) |
S1231L |
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,754,611 (GRCm39) |
|
probably null |
Het |
| Unc13b |
A |
G |
4: 43,255,562 (GRCm39) |
D3849G |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,644 (GRCm39) |
D723V |
probably damaging |
Het |
|
| Other mutations in Wnt2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03264:Wnt2
|
APN |
6 |
17,989,959 (GRCm39) |
missense |
probably benign |
0.22 |
|
1mM(1):Wnt2
|
UTSW |
6 |
18,008,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1165:Wnt2
|
UTSW |
6 |
17,989,946 (GRCm39) |
missense |
probably benign |
|
|
R1771:Wnt2
|
UTSW |
6 |
18,008,696 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1782:Wnt2
|
UTSW |
6 |
18,008,639 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R1836:Wnt2
|
UTSW |
6 |
18,023,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1921:Wnt2
|
UTSW |
6 |
18,030,252 (GRCm39) |
missense |
unknown |
|
|
R2009:Wnt2
|
UTSW |
6 |
18,030,208 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3749:Wnt2
|
UTSW |
6 |
18,023,167 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4831:Wnt2
|
UTSW |
6 |
18,023,285 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4888:Wnt2
|
UTSW |
6 |
18,023,125 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4924:Wnt2
|
UTSW |
6 |
18,023,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5121:Wnt2
|
UTSW |
6 |
18,023,125 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5660:Wnt2
|
UTSW |
6 |
18,028,145 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5767:Wnt2
|
UTSW |
6 |
17,990,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6005:Wnt2
|
UTSW |
6 |
18,030,322 (GRCm39) |
start gained |
probably benign |
|
|
R7205:Wnt2
|
UTSW |
6 |
18,028,046 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7711:Wnt2
|
UTSW |
6 |
17,990,036 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7732:Wnt2
|
UTSW |
6 |
18,023,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8249:Wnt2
|
UTSW |
6 |
18,030,284 (GRCm39) |
start codon destroyed |
probably null |
|
|
R9145:Wnt2
|
UTSW |
6 |
18,030,397 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTTTGAGTACAGGTGCAGGGAG -3'
(R):5'- CCTGCCTTTTAATGTTACCAGGG -3'
Sequencing Primer
(F):5'- CCAGGAGAAGGAGACTCACTTC -3'
(R):5'- GTTACCAGGGAATAAGCAATTCATCC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation