Incidental Mutation 'R4496:Plxdc2'
ID |
330962 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plxdc2
|
Ensembl Gene |
ENSMUSG00000026748 |
Gene Name |
plexin domain containing 2 |
Synonyms |
1200007L24Rik, Tem7r, 5430431D22Rik |
MMRRC Submission |
041749-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4496 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
16361115-16760650 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 16517040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 107
(I107K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110351
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028081]
[ENSMUST00000114702]
[ENSMUST00000114703]
|
AlphaFold |
Q9DC11 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028081
AA Change: I107K
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000028081 Gene: ENSMUSG00000026748 AA Change: I107K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
PSI
|
327 |
372 |
1.52e-3 |
SMART |
low complexity region
|
390 |
401 |
N/A |
INTRINSIC |
transmembrane domain
|
455 |
477 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114702
AA Change: I107K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110350 Gene: ENSMUSG00000026748 AA Change: I107K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
PSI
|
327 |
372 |
1.52e-3 |
SMART |
low complexity region
|
388 |
399 |
N/A |
INTRINSIC |
transmembrane domain
|
453 |
475 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114703
AA Change: I107K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000110351 Gene: ENSMUSG00000026748 AA Change: I107K
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
PSI
|
278 |
323 |
1.52e-3 |
SMART |
low complexity region
|
339 |
350 |
N/A |
INTRINSIC |
transmembrane domain
|
404 |
426 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (50/50) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic reporter allele are viable and behaviorally normal with no apparent abnormalities in the developing and mature nervous system. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
A |
17: 24,602,947 (GRCm39) |
L514H |
possibly damaging |
Het |
Abca7 |
T |
C |
10: 79,838,768 (GRCm39) |
F647S |
probably damaging |
Het |
Ahi1 |
A |
G |
10: 20,841,444 (GRCm39) |
K244E |
probably benign |
Het |
Ankhd1 |
G |
A |
18: 36,693,839 (GRCm39) |
D17N |
probably damaging |
Het |
Arvcf |
G |
T |
16: 18,223,932 (GRCm39) |
K890N |
probably damaging |
Het |
Atosa |
T |
A |
9: 74,938,813 (GRCm39) |
S1038T |
probably damaging |
Het |
Atp11c |
T |
C |
X: 59,326,104 (GRCm39) |
D478G |
probably damaging |
Het |
Clasrp |
C |
A |
7: 19,319,165 (GRCm39) |
|
probably benign |
Het |
Clca3a2 |
C |
T |
3: 144,797,926 (GRCm39) |
D180N |
possibly damaging |
Het |
Comt |
T |
C |
16: 18,230,437 (GRCm39) |
|
probably null |
Het |
Cylc2 |
C |
G |
4: 51,229,651 (GRCm39) |
T331R |
unknown |
Het |
Cyp2d11 |
C |
T |
15: 82,276,149 (GRCm39) |
|
probably benign |
Het |
Fam169b |
G |
T |
7: 68,007,954 (GRCm39) |
C289F |
possibly damaging |
Het |
Fastkd5 |
T |
C |
2: 130,458,501 (GRCm39) |
T30A |
probably benign |
Het |
Fchsd2 |
A |
C |
7: 100,931,702 (GRCm39) |
T753P |
probably benign |
Het |
Gatd3a |
T |
C |
10: 77,999,377 (GRCm39) |
I145V |
probably damaging |
Het |
Glis3 |
G |
A |
19: 28,643,527 (GRCm39) |
S5L |
possibly damaging |
Het |
Gpr158 |
T |
A |
2: 21,831,810 (GRCm39) |
M970K |
probably damaging |
Het |
Gpt |
A |
T |
15: 76,582,663 (GRCm39) |
Q276L |
probably damaging |
Het |
Gtf3c3 |
G |
T |
1: 54,463,291 (GRCm39) |
S302R |
probably benign |
Het |
Hnrnpc |
A |
G |
14: 52,312,888 (GRCm39) |
S229P |
probably benign |
Het |
Ikzf5 |
T |
C |
7: 130,998,393 (GRCm39) |
|
probably null |
Het |
Mal2 |
T |
C |
15: 54,461,835 (GRCm39) |
V110A |
probably damaging |
Het |
Mideas |
C |
T |
12: 84,203,245 (GRCm39) |
G886S |
probably benign |
Het |
Myo3b |
A |
G |
2: 70,084,748 (GRCm39) |
D702G |
probably benign |
Het |
Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
Nat10 |
T |
A |
2: 103,588,084 (GRCm39) |
I14F |
probably damaging |
Het |
Nat14 |
C |
T |
7: 4,926,918 (GRCm39) |
T30M |
probably damaging |
Het |
Ndst4 |
C |
A |
3: 125,476,922 (GRCm39) |
A49D |
probably damaging |
Het |
Nnt |
A |
T |
13: 119,518,301 (GRCm39) |
M292K |
probably damaging |
Het |
Obox7 |
C |
T |
7: 14,399,299 (GRCm39) |
T175I |
probably benign |
Het |
Or2t26 |
T |
A |
11: 49,039,214 (GRCm39) |
N43K |
possibly damaging |
Het |
Or6c5c |
T |
G |
10: 129,299,430 (GRCm39) |
V295G |
possibly damaging |
Het |
Plekhm3 |
T |
C |
1: 64,900,395 (GRCm39) |
E634G |
probably damaging |
Het |
Psmb10 |
T |
A |
8: 106,662,660 (GRCm39) |
R226S |
probably damaging |
Het |
Ptprr |
T |
A |
10: 116,065,407 (GRCm39) |
V160E |
possibly damaging |
Het |
Sema5a |
T |
A |
15: 32,641,133 (GRCm39) |
L649H |
probably damaging |
Het |
Sephs1 |
T |
A |
2: 4,911,494 (GRCm39) |
I356K |
probably benign |
Het |
Serpinb3d |
C |
T |
1: 107,007,022 (GRCm39) |
V229M |
probably damaging |
Het |
Slc7a4 |
T |
C |
16: 17,393,676 (GRCm39) |
D41G |
probably damaging |
Het |
Sort1 |
T |
C |
3: 108,217,461 (GRCm39) |
V121A |
probably benign |
Het |
Tcf20 |
C |
A |
15: 82,739,185 (GRCm39) |
Q755H |
probably damaging |
Het |
Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
Ttll13 |
A |
T |
7: 79,906,667 (GRCm39) |
Y445F |
probably benign |
Het |
Usp40 |
T |
C |
1: 87,923,459 (GRCm39) |
I271V |
possibly damaging |
Het |
Vmn1r72 |
A |
G |
7: 11,403,791 (GRCm39) |
I219T |
probably damaging |
Het |
|
Other mutations in Plxdc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01420:Plxdc2
|
APN |
2 |
16,654,950 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01700:Plxdc2
|
APN |
2 |
16,516,926 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02306:Plxdc2
|
APN |
2 |
16,665,585 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02555:Plxdc2
|
APN |
2 |
16,734,152 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02558:Plxdc2
|
APN |
2 |
16,674,409 (GRCm39) |
splice site |
probably benign |
|
IGL03031:Plxdc2
|
APN |
2 |
16,655,043 (GRCm39) |
splice site |
probably null |
|
IGL03114:Plxdc2
|
APN |
2 |
16,654,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R1024:Plxdc2
|
UTSW |
2 |
16,716,917 (GRCm39) |
missense |
probably benign |
0.00 |
R1449:Plxdc2
|
UTSW |
2 |
16,665,592 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1840:Plxdc2
|
UTSW |
2 |
16,674,667 (GRCm39) |
missense |
probably benign |
0.11 |
R2091:Plxdc2
|
UTSW |
2 |
16,718,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R2129:Plxdc2
|
UTSW |
2 |
16,516,902 (GRCm39) |
missense |
probably benign |
|
R2192:Plxdc2
|
UTSW |
2 |
16,570,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R2287:Plxdc2
|
UTSW |
2 |
16,517,001 (GRCm39) |
missense |
probably benign |
0.00 |
R2567:Plxdc2
|
UTSW |
2 |
16,716,995 (GRCm39) |
missense |
probably benign |
0.00 |
R3964:Plxdc2
|
UTSW |
2 |
16,665,651 (GRCm39) |
missense |
probably damaging |
0.98 |
R4167:Plxdc2
|
UTSW |
2 |
16,570,196 (GRCm39) |
missense |
probably damaging |
0.99 |
R4876:Plxdc2
|
UTSW |
2 |
16,708,129 (GRCm39) |
missense |
probably damaging |
1.00 |
R4891:Plxdc2
|
UTSW |
2 |
16,716,957 (GRCm39) |
missense |
probably benign |
|
R5238:Plxdc2
|
UTSW |
2 |
16,655,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R5389:Plxdc2
|
UTSW |
2 |
16,654,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R5984:Plxdc2
|
UTSW |
2 |
16,665,666 (GRCm39) |
missense |
probably benign |
0.28 |
R6675:Plxdc2
|
UTSW |
2 |
16,716,932 (GRCm39) |
missense |
probably benign |
|
R6751:Plxdc2
|
UTSW |
2 |
16,552,952 (GRCm39) |
missense |
probably benign |
0.14 |
R7676:Plxdc2
|
UTSW |
2 |
16,716,894 (GRCm39) |
missense |
probably benign |
0.01 |
R7757:Plxdc2
|
UTSW |
2 |
16,734,187 (GRCm39) |
missense |
probably benign |
0.37 |
R7813:Plxdc2
|
UTSW |
2 |
16,665,678 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7919:Plxdc2
|
UTSW |
2 |
16,553,036 (GRCm39) |
missense |
probably damaging |
0.98 |
R9783:Plxdc2
|
UTSW |
2 |
16,674,349 (GRCm39) |
nonsense |
probably null |
|
Z1176:Plxdc2
|
UTSW |
2 |
16,570,214 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
Predicted Primers |
PCR Primer
(F):5'- CGCTTTTCCTTGGAATGAAGAG -3'
(R):5'- TTTCCAGAGAGCCCTGTTGC -3'
Sequencing Primer
(F):5'- GGGGGTAGAAGTGGACTCTC -3'
(R):5'- AGAGAGCCCTGTTGCATTCTTTC -3'
|
Posted On |
2015-07-21 |