Incidental Mutation 'R2005:Pard3b'
| ID |
225298 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pard3b
|
| Ensembl Gene |
ENSMUSG00000052062 |
| Gene Name |
par-3 family cell polarity regulator beta |
| Synonyms |
PAR3L, PAR3B, 1810008K04Rik, 2010002N16Rik, PAR3beta, Als2cr19, 2810455B10Rik |
| MMRRC Submission |
040014-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2005 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 62184050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 183
(E183D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074837
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046673]
[ENSMUST00000075374]
[ENSMUST00000094906]
|
| AlphaFold |
Q9CSB4 |
| PDB Structure |
Solution structure of PDZ domain in protein XP_110852 [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046673
AA Change: E183D
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: E183D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
143 |
1.2e-66 |
PFAM |
|
PDZ
|
211 |
291 |
1.5e-4 |
SMART |
|
low complexity region
|
376 |
388 |
N/A |
INTRINSIC |
|
PDZ
|
391 |
470 |
2.5e-24 |
SMART |
|
internal_repeat_1
|
479 |
515 |
4.63e-5 |
PROSPERO |
|
low complexity region
|
527 |
537 |
N/A |
INTRINSIC |
|
low complexity region
|
594 |
601 |
N/A |
INTRINSIC |
|
low complexity region
|
677 |
688 |
N/A |
INTRINSIC |
|
coiled coil region
|
761 |
808 |
N/A |
INTRINSIC |
|
coiled coil region
|
839 |
866 |
N/A |
INTRINSIC |
|
low complexity region
|
1075 |
1083 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075374
AA Change: E183D
PolyPhen 2
Score 0.122 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: E183D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
143 |
8.2e-66 |
PFAM |
|
PDZ
|
211 |
291 |
1.5e-4 |
SMART |
|
low complexity region
|
376 |
388 |
N/A |
INTRINSIC |
|
PDZ
|
391 |
470 |
2.5e-24 |
SMART |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
PDZ
|
507 |
592 |
6.17e-15 |
SMART |
|
low complexity region
|
656 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
750 |
N/A |
INTRINSIC |
|
coiled coil region
|
823 |
870 |
N/A |
INTRINSIC |
|
coiled coil region
|
901 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
1137 |
1145 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094906
AA Change: E183D
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: E183D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3534
|
1 |
143 |
1.1e-66 |
PFAM |
|
PDZ
|
211 |
291 |
1.5e-4 |
SMART |
|
low complexity region
|
376 |
388 |
N/A |
INTRINSIC |
|
PDZ
|
391 |
470 |
2.5e-24 |
SMART |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
PDZ
|
507 |
592 |
6.17e-15 |
SMART |
|
low complexity region
|
656 |
663 |
N/A |
INTRINSIC |
|
low complexity region
|
739 |
750 |
N/A |
INTRINSIC |
|
coiled coil region
|
823 |
870 |
N/A |
INTRINSIC |
|
low complexity region
|
901 |
913 |
N/A |
INTRINSIC |
|
low complexity region
|
1038 |
1046 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188325
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,841,562 (GRCm39) |
A961V |
probably benign |
Het |
| Adcy10 |
A |
G |
1: 165,352,591 (GRCm39) |
Y475C |
probably benign |
Het |
| Adgrb3 |
T |
C |
1: 25,150,799 (GRCm39) |
M1145V |
probably benign |
Het |
| Akr1c21 |
A |
G |
13: 4,624,214 (GRCm39) |
T23A |
probably damaging |
Het |
| Ankrd33b |
A |
T |
15: 31,297,814 (GRCm39) |
S314R |
probably damaging |
Het |
| Apc |
T |
C |
18: 34,443,962 (GRCm39) |
|
probably null |
Het |
| Atg9a |
T |
A |
1: 75,162,635 (GRCm39) |
Q460L |
probably benign |
Het |
| Birc2 |
C |
T |
9: 7,860,342 (GRCm39) |
C292Y |
probably damaging |
Het |
| Capn5 |
T |
C |
7: 97,778,570 (GRCm39) |
I350V |
probably benign |
Het |
| Cc2d2a |
G |
A |
5: 43,883,715 (GRCm39) |
|
probably null |
Het |
| Cdh22 |
T |
A |
2: 165,022,843 (GRCm39) |
E76V |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,760,103 (GRCm39) |
|
probably null |
Het |
| Cdkn1b |
ATTCTTCTTC |
ATTCTTCTTCTTC |
6: 134,898,919 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
T |
A |
10: 92,720,630 (GRCm39) |
D2608V |
unknown |
Het |
| Crebrf |
T |
C |
17: 26,961,857 (GRCm39) |
V318A |
possibly damaging |
Het |
| Cwf19l2 |
A |
T |
9: 3,430,720 (GRCm39) |
N351Y |
possibly damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,631,789 (GRCm39) |
M136K |
probably damaging |
Het |
| Ddx10 |
A |
G |
9: 53,151,775 (GRCm39) |
|
probably null |
Het |
| Ddx47 |
A |
G |
6: 134,995,084 (GRCm39) |
N92S |
probably benign |
Het |
| Ddx50 |
T |
A |
10: 62,476,243 (GRCm39) |
H306L |
probably benign |
Het |
| Dnajc27 |
A |
G |
12: 4,147,317 (GRCm39) |
T167A |
possibly damaging |
Het |
| Dscam |
T |
G |
16: 96,840,120 (GRCm39) |
K162N |
probably benign |
Het |
| Eif4h |
G |
A |
5: 134,656,531 (GRCm39) |
T53I |
probably benign |
Het |
| Elmo2 |
T |
C |
2: 165,140,199 (GRCm39) |
N332S |
probably benign |
Het |
| Ergic3 |
A |
G |
2: 155,853,028 (GRCm39) |
N157S |
possibly damaging |
Het |
| F2rl1 |
G |
T |
13: 95,649,782 (GRCm39) |
R367S |
probably damaging |
Het |
| Fbxo36 |
G |
A |
1: 84,877,790 (GRCm39) |
A151T |
probably benign |
Het |
| Foxf2 |
G |
T |
13: 31,810,124 (GRCm39) |
R21L |
unknown |
Het |
| Gmip |
T |
A |
8: 70,266,693 (GRCm39) |
H269Q |
probably benign |
Het |
| Gng4 |
T |
A |
13: 13,980,751 (GRCm39) |
V32E |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,639,793 (GRCm39) |
Y84C |
possibly damaging |
Het |
| Helz2 |
C |
T |
2: 180,873,122 (GRCm39) |
R2396H |
probably benign |
Het |
| Icosl |
A |
T |
10: 77,907,787 (GRCm39) |
M116L |
possibly damaging |
Het |
| Itgb3bp |
A |
C |
4: 99,702,295 (GRCm39) |
N16K |
probably benign |
Het |
| Kcnt2 |
A |
G |
1: 140,480,756 (GRCm39) |
M824V |
probably damaging |
Het |
| Mki67 |
T |
A |
7: 135,300,238 (GRCm39) |
K1599* |
probably null |
Het |
| Mmp25 |
G |
A |
17: 23,859,216 (GRCm39) |
R144W |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,953,068 (GRCm39) |
I450F |
possibly damaging |
Het |
| Mroh2b |
A |
T |
15: 4,946,640 (GRCm39) |
K480M |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,979,351 (GRCm39) |
D445E |
probably benign |
Het |
| Npbwr1 |
T |
A |
1: 5,986,570 (GRCm39) |
S315C |
probably damaging |
Het |
| Or10ag56 |
T |
A |
2: 87,139,792 (GRCm39) |
S240T |
probably benign |
Het |
| Or1e19 |
A |
T |
11: 73,316,065 (GRCm39) |
V248E |
probably damaging |
Het |
| Or5d38 |
A |
G |
2: 87,954,891 (GRCm39) |
L146P |
probably damaging |
Het |
| Or7g16 |
G |
A |
9: 18,726,801 (GRCm39) |
S263L |
probably benign |
Het |
| Pde10a |
G |
A |
17: 9,147,923 (GRCm39) |
|
probably null |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Prdm13 |
T |
C |
4: 21,685,695 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
T |
A |
2: 37,279,765 (GRCm39) |
K461* |
probably null |
Het |
| Reep2 |
C |
T |
18: 34,978,674 (GRCm39) |
T117M |
probably damaging |
Het |
| Rhbdd1 |
A |
G |
1: 82,318,531 (GRCm39) |
N138S |
probably benign |
Het |
| Rnf19a |
A |
T |
15: 36,241,916 (GRCm39) |
F708I |
possibly damaging |
Het |
| Robo2 |
G |
A |
16: 73,730,003 (GRCm39) |
H1069Y |
possibly damaging |
Het |
| Rpl9 |
C |
T |
5: 65,546,878 (GRCm39) |
V112I |
probably benign |
Het |
| Sec16a |
A |
C |
2: 26,329,092 (GRCm39) |
S974R |
probably benign |
Het |
| Sfrp5 |
A |
G |
19: 42,187,275 (GRCm39) |
M265T |
probably benign |
Het |
| Skint7 |
T |
C |
4: 111,842,047 (GRCm39) |
I305T |
probably benign |
Het |
| Slc6a7 |
T |
C |
18: 61,134,713 (GRCm39) |
D454G |
possibly damaging |
Het |
| Slco6c1 |
A |
G |
1: 97,009,214 (GRCm39) |
I407T |
probably damaging |
Het |
| Slfn8 |
A |
T |
11: 82,894,976 (GRCm39) |
M610K |
probably damaging |
Het |
| Spidr |
A |
G |
16: 15,865,913 (GRCm39) |
S299P |
probably damaging |
Het |
| Sptbn4 |
C |
T |
7: 27,065,844 (GRCm39) |
W2034* |
probably null |
Het |
| Stard9 |
T |
A |
2: 120,495,426 (GRCm39) |
F100L |
possibly damaging |
Het |
| Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
| Stc1 |
T |
C |
14: 69,269,096 (GRCm39) |
|
probably null |
Het |
| Sun2 |
T |
C |
15: 79,610,825 (GRCm39) |
E667G |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,333,280 (GRCm39) |
S511P |
probably damaging |
Het |
| Tasp1 |
T |
G |
2: 139,819,598 (GRCm39) |
K202Q |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,939,546 (GRCm39) |
F501L |
probably damaging |
Het |
| Tgds |
A |
G |
14: 118,368,068 (GRCm39) |
V35A |
possibly damaging |
Het |
| Tubgcp6 |
G |
A |
15: 88,988,369 (GRCm39) |
T860I |
probably benign |
Het |
| Twf1 |
C |
T |
15: 94,483,328 (GRCm39) |
|
probably null |
Het |
| Vangl1 |
A |
G |
3: 102,070,782 (GRCm39) |
S385P |
probably benign |
Het |
| Vmn2r117 |
A |
G |
17: 23,696,618 (GRCm39) |
I263T |
probably damaging |
Het |
| Washc5 |
A |
G |
15: 59,213,004 (GRCm39) |
L892P |
possibly damaging |
Het |
| Wnk4 |
T |
C |
11: 101,154,716 (GRCm39) |
C302R |
probably damaging |
Het |
| Zfp395 |
A |
G |
14: 65,626,334 (GRCm39) |
E191G |
possibly damaging |
Het |
| Zkscan17 |
A |
G |
11: 59,383,042 (GRCm39) |
L302P |
probably damaging |
Het |
|
| Other mutations in Pard3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00428:Pard3b
|
APN |
1 |
62,200,357 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01363:Pard3b
|
APN |
1 |
62,676,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01509:Pard3b
|
APN |
1 |
62,200,407 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01611:Pard3b
|
APN |
1 |
62,677,021 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01651:Pard3b
|
APN |
1 |
62,518,963 (GRCm39) |
intron |
probably benign |
|
|
IGL01670:Pard3b
|
APN |
1 |
62,250,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02156:Pard3b
|
APN |
1 |
61,807,109 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL02232:Pard3b
|
APN |
1 |
62,205,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02450:Pard3b
|
APN |
1 |
62,571,835 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL03064:Pard3b
|
APN |
1 |
62,237,930 (GRCm39) |
splice site |
probably benign |
|
|
R0040:Pard3b
|
UTSW |
1 |
62,676,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0040:Pard3b
|
UTSW |
1 |
62,676,979 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0060:Pard3b
|
UTSW |
1 |
61,678,474 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0157:Pard3b
|
UTSW |
1 |
62,250,792 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0333:Pard3b
|
UTSW |
1 |
62,269,371 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0448:Pard3b
|
UTSW |
1 |
62,205,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0465:Pard3b
|
UTSW |
1 |
62,250,877 (GRCm39) |
splice site |
probably benign |
|
|
R0497:Pard3b
|
UTSW |
1 |
62,479,167 (GRCm39) |
splice site |
probably null |
|
|
R1264:Pard3b
|
UTSW |
1 |
62,203,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Pard3b
|
UTSW |
1 |
62,384,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1468:Pard3b
|
UTSW |
1 |
62,384,188 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1482:Pard3b
|
UTSW |
1 |
62,205,526 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1554:Pard3b
|
UTSW |
1 |
62,677,053 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1836:Pard3b
|
UTSW |
1 |
62,676,763 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2220:Pard3b
|
UTSW |
1 |
62,518,842 (GRCm39) |
nonsense |
probably null |
|
|
R2435:Pard3b
|
UTSW |
1 |
62,626,897 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3015:Pard3b
|
UTSW |
1 |
62,384,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3688:Pard3b
|
UTSW |
1 |
62,518,728 (GRCm39) |
missense |
probably benign |
|
|
R3712:Pard3b
|
UTSW |
1 |
62,383,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3799:Pard3b
|
UTSW |
1 |
62,200,388 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3942:Pard3b
|
UTSW |
1 |
62,198,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4683:Pard3b
|
UTSW |
1 |
62,255,675 (GRCm39) |
missense |
probably benign |
|
|
R4729:Pard3b
|
UTSW |
1 |
62,250,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4898:Pard3b
|
UTSW |
1 |
61,807,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4981:Pard3b
|
UTSW |
1 |
62,383,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5049:Pard3b
|
UTSW |
1 |
62,200,320 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5223:Pard3b
|
UTSW |
1 |
62,383,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5476:Pard3b
|
UTSW |
1 |
62,049,565 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5541:Pard3b
|
UTSW |
1 |
61,678,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5672:Pard3b
|
UTSW |
1 |
62,049,625 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5714:Pard3b
|
UTSW |
1 |
62,677,075 (GRCm39) |
missense |
probably null |
0.99 |
|
R5722:Pard3b
|
UTSW |
1 |
62,479,160 (GRCm39) |
splice site |
probably null |
|
|
R5793:Pard3b
|
UTSW |
1 |
61,807,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5930:Pard3b
|
UTSW |
1 |
61,807,289 (GRCm39) |
intron |
probably benign |
|
|
R5950:Pard3b
|
UTSW |
1 |
62,255,690 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5997:Pard3b
|
UTSW |
1 |
62,115,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6646:Pard3b
|
UTSW |
1 |
62,200,280 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6720:Pard3b
|
UTSW |
1 |
62,198,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6809:Pard3b
|
UTSW |
1 |
62,200,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7148:Pard3b
|
UTSW |
1 |
62,479,191 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7847:Pard3b
|
UTSW |
1 |
62,383,093 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7879:Pard3b
|
UTSW |
1 |
62,198,670 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8048:Pard3b
|
UTSW |
1 |
62,193,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8125:Pard3b
|
UTSW |
1 |
61,807,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8329:Pard3b
|
UTSW |
1 |
62,676,957 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8766:Pard3b
|
UTSW |
1 |
62,198,637 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8833:Pard3b
|
UTSW |
1 |
62,384,158 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8889:Pard3b
|
UTSW |
1 |
62,677,026 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8892:Pard3b
|
UTSW |
1 |
62,677,026 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8907:Pard3b
|
UTSW |
1 |
62,383,294 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8909:Pard3b
|
UTSW |
1 |
62,383,294 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9215:Pard3b
|
UTSW |
1 |
62,203,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9310:Pard3b
|
UTSW |
1 |
62,205,528 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9542:Pard3b
|
UTSW |
1 |
62,250,786 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Pard3b
|
UTSW |
1 |
62,278,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAGGACATTAACAGCTGTTTC -3'
(R):5'- GGAGTAAGCAATCCACGTTTG -3'
Sequencing Primer
(F):5'- ACAGCTGTTTCCAGTCTCAGAAG -3'
(R):5'- GGAGTAAGCAATCCACGTTTGAATTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation