Incidental Mutation 'R1823:Plekhh2'
ID |
206618 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Plekhh2
|
Ensembl Gene |
ENSMUSG00000040852 |
Gene Name |
pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 |
Synonyms |
|
MMRRC Submission |
039851-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R1823 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
84819323-84929566 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84882617 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 708
(Y708C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039628
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047206]
|
AlphaFold |
Q8C115 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047206
AA Change: Y708C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039628 Gene: ENSMUSG00000040852 AA Change: Y708C
Domain | Start | End | E-Value | Type |
coiled coil region
|
19 |
84 |
N/A |
INTRINSIC |
low complexity region
|
119 |
132 |
N/A |
INTRINSIC |
coiled coil region
|
137 |
174 |
N/A |
INTRINSIC |
low complexity region
|
427 |
442 |
N/A |
INTRINSIC |
low complexity region
|
579 |
593 |
N/A |
INTRINSIC |
low complexity region
|
612 |
651 |
N/A |
INTRINSIC |
low complexity region
|
657 |
666 |
N/A |
INTRINSIC |
PH
|
703 |
798 |
4.7e-19 |
SMART |
PH
|
811 |
920 |
1.15e-4 |
SMART |
MyTH4
|
954 |
1109 |
8.49e-39 |
SMART |
B41
|
1116 |
1353 |
1.01e-27 |
SMART |
|
Meta Mutation Damage Score |
0.7585 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.6%
|
Validation Efficiency |
98% (87/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy1 |
G |
A |
11: 7,111,312 (GRCm39) |
V868I |
probably benign |
Het |
Ahnak |
G |
T |
19: 8,982,269 (GRCm39) |
M1184I |
probably damaging |
Het |
Akap11 |
T |
C |
14: 78,748,928 (GRCm39) |
E1153G |
probably damaging |
Het |
Amy1 |
T |
C |
3: 113,356,376 (GRCm39) |
N260S |
probably null |
Het |
Ankrd6 |
A |
G |
4: 32,824,427 (GRCm39) |
L129P |
probably damaging |
Het |
Aox1 |
A |
T |
1: 58,351,518 (GRCm39) |
T702S |
probably benign |
Het |
Apobec1 |
G |
T |
6: 122,555,845 (GRCm39) |
T204K |
possibly damaging |
Het |
Arhgef19 |
A |
G |
4: 140,976,457 (GRCm39) |
R433G |
probably benign |
Het |
Atf6b |
T |
A |
17: 34,867,618 (GRCm39) |
H110Q |
possibly damaging |
Het |
Btnl4 |
C |
T |
17: 34,694,826 (GRCm39) |
|
probably null |
Het |
Camsap2 |
T |
C |
1: 136,201,521 (GRCm39) |
T662A |
possibly damaging |
Het |
Cbs |
G |
A |
17: 31,843,245 (GRCm39) |
H229Y |
probably damaging |
Het |
Cct8 |
G |
A |
16: 87,287,442 (GRCm39) |
R111* |
probably null |
Het |
Cdc42bpb |
C |
T |
12: 111,293,993 (GRCm39) |
A250T |
probably damaging |
Het |
Chrd |
A |
G |
16: 20,560,097 (GRCm39) |
|
probably benign |
Het |
Ckap2l |
A |
G |
2: 129,117,499 (GRCm39) |
F559L |
probably damaging |
Het |
Cltrn |
A |
G |
X: 162,901,230 (GRCm39) |
D184G |
possibly damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,059,477 (GRCm39) |
Y141C |
probably damaging |
Het |
Dbf4 |
T |
C |
5: 8,447,539 (GRCm39) |
N557S |
probably benign |
Het |
Dct |
T |
G |
14: 118,273,935 (GRCm39) |
N324T |
probably benign |
Het |
Dip2a |
A |
T |
10: 76,114,336 (GRCm39) |
L999* |
probably null |
Het |
Dock10 |
T |
A |
1: 80,520,814 (GRCm39) |
|
probably null |
Het |
Dync2li1 |
A |
T |
17: 84,957,225 (GRCm39) |
D330V |
probably damaging |
Het |
Eif4g3 |
T |
A |
4: 137,907,802 (GRCm39) |
D1267E |
probably benign |
Het |
Enc1 |
A |
G |
13: 97,382,486 (GRCm39) |
E332G |
possibly damaging |
Het |
Fat2 |
C |
T |
11: 55,147,606 (GRCm39) |
V3879I |
probably benign |
Het |
Fh1 |
A |
T |
1: 175,444,114 (GRCm39) |
I117K |
probably damaging |
Het |
Fkbp15 |
A |
G |
4: 62,255,328 (GRCm39) |
L227P |
probably damaging |
Het |
Fpr1 |
T |
A |
17: 18,097,315 (GRCm39) |
M225L |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,918,547 (GRCm39) |
I3528F |
probably damaging |
Het |
Grm7 |
A |
G |
6: 111,184,730 (GRCm39) |
T354A |
probably benign |
Het |
Ift27 |
T |
A |
15: 78,057,978 (GRCm39) |
I9F |
possibly damaging |
Het |
Igf1r |
A |
G |
7: 67,844,729 (GRCm39) |
D834G |
possibly damaging |
Het |
Igsf9b |
T |
A |
9: 27,243,028 (GRCm39) |
L738Q |
probably damaging |
Het |
Itgam |
A |
T |
7: 127,663,904 (GRCm39) |
T44S |
probably benign |
Het |
Ivd |
T |
A |
2: 118,692,515 (GRCm39) |
I5N |
probably benign |
Het |
Jcad |
T |
C |
18: 4,675,780 (GRCm39) |
S1181P |
probably damaging |
Het |
Kctd18 |
A |
G |
1: 57,995,524 (GRCm39) |
V251A |
probably benign |
Het |
Mycbp2 |
A |
G |
14: 103,489,945 (GRCm39) |
V953A |
possibly damaging |
Het |
Myo18a |
T |
C |
11: 77,715,923 (GRCm39) |
|
probably benign |
Het |
Myo3a |
A |
T |
2: 22,345,091 (GRCm39) |
Y509F |
probably damaging |
Het |
Myocd |
C |
A |
11: 65,069,496 (GRCm39) |
M909I |
probably benign |
Het |
Ndufv3 |
G |
A |
17: 31,750,219 (GRCm39) |
R467Q |
probably damaging |
Het |
Nkpd1 |
G |
A |
7: 19,257,177 (GRCm39) |
V319M |
probably damaging |
Het |
Or13p4 |
T |
A |
4: 118,547,389 (GRCm39) |
N87Y |
probably damaging |
Het |
Or1af1 |
T |
C |
2: 37,110,344 (GRCm39) |
V281A |
probably damaging |
Het |
Or1p1c |
C |
T |
11: 74,161,043 (GRCm39) |
A276V |
probably damaging |
Het |
Or2q1 |
G |
T |
6: 42,795,202 (GRCm39) |
A266S |
possibly damaging |
Het |
Or2t1 |
T |
A |
14: 14,328,774 (GRCm38) |
L221Q |
probably damaging |
Het |
Or4c111 |
A |
G |
2: 88,843,722 (GRCm39) |
S229P |
probably benign |
Het |
Or5b101 |
C |
A |
19: 13,005,181 (GRCm39) |
V171L |
probably benign |
Het |
Parp4 |
T |
C |
14: 56,827,329 (GRCm39) |
|
probably benign |
Het |
Pcdhb9 |
A |
G |
18: 37,535,871 (GRCm39) |
T622A |
probably benign |
Het |
Pdpk1 |
A |
T |
17: 24,317,150 (GRCm39) |
|
probably benign |
Het |
Pkhd1 |
C |
A |
1: 20,417,681 (GRCm39) |
G2490V |
probably damaging |
Het |
Plekhg1 |
G |
T |
10: 3,853,658 (GRCm39) |
|
probably null |
Het |
Pnp |
T |
C |
14: 51,187,786 (GRCm39) |
F107L |
probably damaging |
Het |
Postn |
T |
A |
3: 54,292,708 (GRCm39) |
|
probably null |
Het |
Prcp |
A |
T |
7: 92,577,883 (GRCm39) |
D349V |
probably damaging |
Het |
Prl3a1 |
A |
T |
13: 27,454,177 (GRCm39) |
I52F |
probably damaging |
Het |
Pym1 |
G |
A |
10: 128,601,913 (GRCm39) |
|
probably benign |
Het |
Rad9a |
A |
T |
19: 4,247,241 (GRCm39) |
I248N |
probably damaging |
Het |
Ror2 |
T |
G |
13: 53,264,341 (GRCm39) |
E917A |
probably benign |
Het |
Rsf1 |
G |
A |
7: 97,229,117 (GRCm39) |
|
probably benign |
Het |
Sema6d |
A |
G |
2: 124,501,476 (GRCm39) |
|
probably null |
Het |
Shisal1 |
T |
C |
15: 84,290,669 (GRCm39) |
T213A |
probably benign |
Het |
Slc4a2 |
C |
T |
5: 24,632,618 (GRCm39) |
A12V |
probably damaging |
Het |
Slco6b1 |
T |
G |
1: 96,888,901 (GRCm39) |
|
noncoding transcript |
Het |
Slf2 |
A |
T |
19: 44,923,687 (GRCm39) |
H167L |
possibly damaging |
Het |
Snx9 |
G |
T |
17: 5,970,946 (GRCm39) |
G429V |
probably damaging |
Het |
Sod3 |
G |
T |
5: 52,525,504 (GRCm39) |
V68L |
probably benign |
Het |
Spta1 |
T |
A |
1: 174,074,115 (GRCm39) |
D2351E |
probably benign |
Het |
Srpk3 |
G |
A |
X: 72,821,561 (GRCm39) |
R425Q |
possibly damaging |
Het |
Tatdn1 |
C |
T |
15: 58,788,005 (GRCm39) |
G171E |
probably damaging |
Het |
Tbc1d22a |
T |
C |
15: 86,119,770 (GRCm39) |
V22A |
possibly damaging |
Het |
Tnfsf9 |
A |
G |
17: 57,412,738 (GRCm39) |
T103A |
probably benign |
Het |
Tpm3-rs7 |
T |
C |
14: 113,552,595 (GRCm39) |
L163P |
possibly damaging |
Het |
Trim52 |
T |
A |
14: 106,344,401 (GRCm39) |
C20S |
probably damaging |
Het |
Ucp1 |
C |
T |
8: 84,020,661 (GRCm39) |
T157I |
probably damaging |
Het |
Uspl1 |
T |
A |
5: 149,151,224 (GRCm39) |
L794Q |
probably benign |
Het |
Vmn1r5 |
T |
A |
6: 56,962,580 (GRCm39) |
V85E |
probably damaging |
Het |
Vmn1r58 |
A |
G |
7: 5,413,405 (GRCm39) |
I275T |
possibly damaging |
Het |
Vmn2r79 |
A |
G |
7: 86,687,080 (GRCm39) |
I820M |
probably damaging |
Het |
Wscd1 |
C |
A |
11: 71,651,044 (GRCm39) |
P124T |
probably benign |
Het |
Zfp780b |
A |
T |
7: 27,662,525 (GRCm39) |
C677S |
possibly damaging |
Het |
|
Other mutations in Plekhh2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00430:Plekhh2
|
APN |
17 |
84,829,203 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00514:Plekhh2
|
APN |
17 |
84,903,734 (GRCm39) |
critical splice donor site |
probably null |
|
IGL00773:Plekhh2
|
APN |
17 |
84,914,296 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00985:Plekhh2
|
APN |
17 |
84,871,356 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01116:Plekhh2
|
APN |
17 |
84,914,356 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01394:Plekhh2
|
APN |
17 |
84,864,858 (GRCm39) |
missense |
probably benign |
0.24 |
IGL01419:Plekhh2
|
APN |
17 |
84,890,980 (GRCm39) |
splice site |
probably benign |
|
IGL01932:Plekhh2
|
APN |
17 |
84,884,689 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02097:Plekhh2
|
APN |
17 |
84,906,608 (GRCm39) |
missense |
possibly damaging |
0.69 |
IGL02157:Plekhh2
|
APN |
17 |
84,874,370 (GRCm39) |
splice site |
probably benign |
|
IGL02163:Plekhh2
|
APN |
17 |
84,898,223 (GRCm39) |
missense |
probably benign |
0.45 |
IGL02237:Plekhh2
|
APN |
17 |
84,883,213 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02322:Plekhh2
|
APN |
17 |
84,896,894 (GRCm39) |
nonsense |
probably null |
|
IGL02422:Plekhh2
|
APN |
17 |
84,871,237 (GRCm39) |
splice site |
probably benign |
|
IGL02483:Plekhh2
|
APN |
17 |
84,903,688 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02493:Plekhh2
|
APN |
17 |
84,914,391 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03007:Plekhh2
|
APN |
17 |
84,882,388 (GRCm39) |
missense |
possibly damaging |
0.65 |
R0003:Plekhh2
|
UTSW |
17 |
84,864,820 (GRCm39) |
missense |
probably damaging |
1.00 |
R0005:Plekhh2
|
UTSW |
17 |
84,893,861 (GRCm39) |
missense |
probably benign |
0.16 |
R0099:Plekhh2
|
UTSW |
17 |
84,899,100 (GRCm39) |
nonsense |
probably null |
|
R0331:Plekhh2
|
UTSW |
17 |
84,893,794 (GRCm39) |
missense |
possibly damaging |
0.81 |
R0883:Plekhh2
|
UTSW |
17 |
84,925,459 (GRCm39) |
missense |
probably benign |
0.11 |
R1051:Plekhh2
|
UTSW |
17 |
84,829,255 (GRCm39) |
critical splice donor site |
probably null |
|
R1084:Plekhh2
|
UTSW |
17 |
84,878,554 (GRCm39) |
missense |
probably damaging |
0.99 |
R1351:Plekhh2
|
UTSW |
17 |
84,884,574 (GRCm39) |
splice site |
probably benign |
|
R1459:Plekhh2
|
UTSW |
17 |
84,918,203 (GRCm39) |
nonsense |
probably null |
|
R1469:Plekhh2
|
UTSW |
17 |
84,883,199 (GRCm39) |
missense |
probably benign |
0.03 |
R1469:Plekhh2
|
UTSW |
17 |
84,883,199 (GRCm39) |
missense |
probably benign |
0.03 |
R1510:Plekhh2
|
UTSW |
17 |
84,867,004 (GRCm39) |
splice site |
probably null |
|
R1699:Plekhh2
|
UTSW |
17 |
84,884,612 (GRCm39) |
nonsense |
probably null |
|
R1738:Plekhh2
|
UTSW |
17 |
84,874,125 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1773:Plekhh2
|
UTSW |
17 |
84,906,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R1796:Plekhh2
|
UTSW |
17 |
84,906,561 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1998:Plekhh2
|
UTSW |
17 |
84,914,305 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2437:Plekhh2
|
UTSW |
17 |
84,893,907 (GRCm39) |
splice site |
probably null |
|
R2847:Plekhh2
|
UTSW |
17 |
84,905,394 (GRCm39) |
missense |
probably damaging |
1.00 |
R4088:Plekhh2
|
UTSW |
17 |
84,925,427 (GRCm39) |
missense |
probably benign |
0.10 |
R4227:Plekhh2
|
UTSW |
17 |
84,874,223 (GRCm39) |
missense |
probably benign |
0.00 |
R4249:Plekhh2
|
UTSW |
17 |
84,893,765 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4347:Plekhh2
|
UTSW |
17 |
84,927,130 (GRCm39) |
missense |
probably benign |
0.12 |
R4562:Plekhh2
|
UTSW |
17 |
84,873,525 (GRCm39) |
missense |
probably benign |
0.00 |
R4649:Plekhh2
|
UTSW |
17 |
84,882,691 (GRCm39) |
missense |
probably damaging |
1.00 |
R4737:Plekhh2
|
UTSW |
17 |
84,871,387 (GRCm39) |
missense |
probably benign |
|
R4743:Plekhh2
|
UTSW |
17 |
84,878,548 (GRCm39) |
missense |
probably damaging |
1.00 |
R4858:Plekhh2
|
UTSW |
17 |
84,908,125 (GRCm39) |
missense |
probably damaging |
1.00 |
R5036:Plekhh2
|
UTSW |
17 |
84,879,189 (GRCm39) |
missense |
probably damaging |
0.99 |
R5260:Plekhh2
|
UTSW |
17 |
84,884,593 (GRCm39) |
missense |
probably damaging |
0.99 |
R5385:Plekhh2
|
UTSW |
17 |
84,864,894 (GRCm39) |
missense |
probably benign |
0.00 |
R5409:Plekhh2
|
UTSW |
17 |
84,893,906 (GRCm39) |
critical splice donor site |
probably null |
|
R5510:Plekhh2
|
UTSW |
17 |
84,874,275 (GRCm39) |
missense |
probably benign |
|
R5557:Plekhh2
|
UTSW |
17 |
84,867,580 (GRCm39) |
missense |
probably benign |
0.10 |
R5684:Plekhh2
|
UTSW |
17 |
84,905,346 (GRCm39) |
missense |
probably damaging |
1.00 |
R5685:Plekhh2
|
UTSW |
17 |
84,877,310 (GRCm39) |
missense |
probably damaging |
1.00 |
R5724:Plekhh2
|
UTSW |
17 |
84,874,233 (GRCm39) |
missense |
probably benign |
0.00 |
R5742:Plekhh2
|
UTSW |
17 |
84,905,408 (GRCm39) |
missense |
probably damaging |
1.00 |
R5817:Plekhh2
|
UTSW |
17 |
84,879,154 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6218:Plekhh2
|
UTSW |
17 |
84,898,992 (GRCm39) |
missense |
probably benign |
0.03 |
R6334:Plekhh2
|
UTSW |
17 |
84,874,294 (GRCm39) |
missense |
probably benign |
|
R6345:Plekhh2
|
UTSW |
17 |
84,883,215 (GRCm39) |
missense |
probably benign |
0.01 |
R6617:Plekhh2
|
UTSW |
17 |
84,873,715 (GRCm39) |
missense |
possibly damaging |
0.65 |
R6755:Plekhh2
|
UTSW |
17 |
84,899,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R6864:Plekhh2
|
UTSW |
17 |
84,925,427 (GRCm39) |
missense |
probably benign |
0.10 |
R7171:Plekhh2
|
UTSW |
17 |
84,829,216 (GRCm39) |
missense |
probably damaging |
0.96 |
R7413:Plekhh2
|
UTSW |
17 |
84,873,724 (GRCm39) |
missense |
probably benign |
0.03 |
R7585:Plekhh2
|
UTSW |
17 |
84,884,608 (GRCm39) |
missense |
probably benign |
0.11 |
R7640:Plekhh2
|
UTSW |
17 |
84,918,204 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7733:Plekhh2
|
UTSW |
17 |
84,890,952 (GRCm39) |
nonsense |
probably null |
|
R7877:Plekhh2
|
UTSW |
17 |
84,882,434 (GRCm39) |
missense |
probably benign |
|
R8085:Plekhh2
|
UTSW |
17 |
84,905,384 (GRCm39) |
missense |
probably damaging |
0.98 |
R8206:Plekhh2
|
UTSW |
17 |
84,898,277 (GRCm39) |
missense |
possibly damaging |
0.47 |
R8296:Plekhh2
|
UTSW |
17 |
84,908,113 (GRCm39) |
missense |
probably damaging |
0.98 |
R8344:Plekhh2
|
UTSW |
17 |
84,879,189 (GRCm39) |
missense |
possibly damaging |
0.64 |
R8438:Plekhh2
|
UTSW |
17 |
84,877,379 (GRCm39) |
missense |
probably benign |
|
R8487:Plekhh2
|
UTSW |
17 |
84,864,909 (GRCm39) |
missense |
possibly damaging |
0.55 |
R8708:Plekhh2
|
UTSW |
17 |
84,882,421 (GRCm39) |
missense |
probably benign |
0.00 |
R8830:Plekhh2
|
UTSW |
17 |
84,829,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R8847:Plekhh2
|
UTSW |
17 |
84,878,479 (GRCm39) |
missense |
probably benign |
0.00 |
R8918:Plekhh2
|
UTSW |
17 |
84,906,621 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9047:Plekhh2
|
UTSW |
17 |
84,898,190 (GRCm39) |
missense |
probably damaging |
0.99 |
R9404:Plekhh2
|
UTSW |
17 |
84,878,468 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9428:Plekhh2
|
UTSW |
17 |
84,873,841 (GRCm39) |
missense |
probably benign |
|
R9516:Plekhh2
|
UTSW |
17 |
84,918,240 (GRCm39) |
missense |
probably benign |
0.00 |
R9559:Plekhh2
|
UTSW |
17 |
84,899,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R9589:Plekhh2
|
UTSW |
17 |
84,854,918 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9641:Plekhh2
|
UTSW |
17 |
84,874,130 (GRCm39) |
missense |
probably damaging |
1.00 |
R9659:Plekhh2
|
UTSW |
17 |
84,854,892 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9788:Plekhh2
|
UTSW |
17 |
84,854,892 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Predicted Primers |
PCR Primer
(F):5'- ACTATGCCATTCCTCCGGATG -3'
(R):5'- AGTCTGTTTTACAGTGTGAGGAAC -3'
Sequencing Primer
(F):5'- TATCCCATAGACGCAGAGTGTTCG -3'
(R):5'- AGGAACTCAGGCCCTAACGG -3'
|
Posted On |
2014-06-23 |