Incidental Mutation 'R5049:Pard3b'
| ID |
394494 |
| 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 |
042639-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5049 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 62200320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 286
(H286Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000092510
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046673]
[ENSMUST00000075374]
[ENSMUST00000094906]
|
| AlphaFold |
Q9CSB4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046673
AA Change: H286Q
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: H286Q
| 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: H286Q
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: H286Q
| 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: H286Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: H286Q
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 95.8%
- 20x: 90.4%
|
| Validation Efficiency |
97% (89/92) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
A |
G |
1: 74,321,698 (GRCm39) |
S76P |
probably damaging |
Het |
| Acot8 |
A |
G |
2: 164,641,610 (GRCm39) |
|
probably benign |
Het |
| Angptl7 |
A |
G |
4: 148,582,468 (GRCm39) |
F143L |
probably benign |
Het |
| Atxn7l1 |
A |
G |
12: 33,408,686 (GRCm39) |
T283A |
probably benign |
Het |
| Bltp1 |
T |
A |
3: 37,094,655 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,095,539 (GRCm39) |
M1016T |
probably damaging |
Het |
| Brd3 |
G |
T |
2: 27,340,589 (GRCm39) |
|
probably benign |
Het |
| C130026L21Rik |
T |
A |
5: 111,729,702 (GRCm39) |
|
noncoding transcript |
Het |
| Cbr4 |
T |
G |
8: 61,948,238 (GRCm39) |
|
probably null |
Het |
| Ccl19 |
A |
G |
4: 42,756,268 (GRCm39) |
|
probably null |
Het |
| Ccl2 |
G |
T |
11: 81,927,333 (GRCm39) |
C34F |
probably damaging |
Het |
| Dnah12 |
A |
T |
14: 26,456,852 (GRCm39) |
T873S |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,338,992 (GRCm39) |
N3118S |
probably damaging |
Het |
| Elapor2 |
A |
G |
5: 9,478,488 (GRCm39) |
T451A |
probably damaging |
Het |
| Epb41l1 |
C |
A |
2: 156,366,859 (GRCm39) |
P564Q |
possibly damaging |
Het |
| Extl3 |
A |
T |
14: 65,313,481 (GRCm39) |
M567K |
probably benign |
Het |
| Fhip2a |
T |
C |
19: 57,374,737 (GRCm39) |
I704T |
possibly damaging |
Het |
| Foxf2 |
T |
C |
13: 31,811,158 (GRCm39) |
S366P |
probably benign |
Het |
| Gamt |
T |
A |
10: 80,094,788 (GRCm39) |
T186S |
probably benign |
Het |
| Gcn1 |
T |
A |
5: 115,744,730 (GRCm39) |
M1642K |
probably damaging |
Het |
| Gm21738 |
T |
A |
14: 19,415,957 (GRCm38) |
Y194F |
probably benign |
Het |
| Golga1 |
A |
T |
2: 38,937,747 (GRCm39) |
M115K |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,661,073 (GRCm39) |
D183E |
probably damaging |
Het |
| Herc3 |
A |
G |
6: 58,871,524 (GRCm39) |
|
probably null |
Het |
| Hes2 |
C |
A |
4: 152,244,331 (GRCm39) |
L39I |
possibly damaging |
Het |
| Hopx |
C |
A |
5: 77,242,899 (GRCm39) |
|
probably benign |
Het |
| Idi1 |
C |
T |
13: 8,938,078 (GRCm39) |
P175S |
probably damaging |
Het |
| Ifit1bl1 |
A |
T |
19: 34,571,481 (GRCm39) |
C325* |
probably null |
Het |
| Ighv7-3 |
T |
C |
12: 114,116,953 (GRCm39) |
I70V |
probably benign |
Het |
| Kcnq3 |
T |
C |
15: 66,157,746 (GRCm39) |
T110A |
probably benign |
Het |
| Kif5a |
T |
C |
10: 127,075,708 (GRCm39) |
D451G |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,715,668 (GRCm39) |
E1708G |
probably benign |
Het |
| Lrriq4 |
T |
A |
3: 30,705,086 (GRCm39) |
D371E |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,810,649 (GRCm39) |
V773E |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,908,882 (GRCm39) |
L23* |
probably null |
Het |
| Mapkbp1 |
G |
T |
2: 119,845,982 (GRCm39) |
|
probably benign |
Het |
| Mrpl30 |
A |
T |
1: 37,936,791 (GRCm39) |
D52V |
possibly damaging |
Het |
| Or10ag57 |
A |
T |
2: 87,219,002 (GRCm39) |
T318S |
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,706,259 (GRCm39) |
L103Q |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,873,188 (GRCm39) |
K1144R |
possibly damaging |
Het |
| Pdcd11 |
C |
A |
19: 47,095,554 (GRCm39) |
S625R |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,321,012 (GRCm39) |
S22P |
probably benign |
Het |
| Prss32 |
A |
T |
17: 24,078,221 (GRCm39) |
E302D |
possibly damaging |
Het |
| Prss45 |
A |
G |
9: 110,669,538 (GRCm39) |
K205E |
probably damaging |
Het |
| Puf60 |
T |
A |
15: 75,942,323 (GRCm39) |
I500F |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,470,516 (GRCm39) |
I4623N |
probably damaging |
Het |
| Sh3bp5l |
T |
A |
11: 58,228,950 (GRCm39) |
|
probably benign |
Het |
| Slc3a1 |
T |
G |
17: 85,340,273 (GRCm39) |
Y232D |
probably damaging |
Het |
| Slc8a3 |
A |
G |
12: 81,260,906 (GRCm39) |
Y608H |
probably damaging |
Het |
| Socs7 |
G |
T |
11: 97,269,469 (GRCm39) |
R429L |
probably benign |
Het |
| Sorcs3 |
C |
A |
19: 48,748,390 (GRCm39) |
N786K |
possibly damaging |
Het |
| Sp4 |
A |
T |
12: 118,218,207 (GRCm39) |
M680K |
probably benign |
Het |
| Tas2r131 |
T |
C |
6: 132,934,540 (GRCm39) |
T90A |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,624,000 (GRCm39) |
H1983Q |
probably benign |
Het |
| Tbx21 |
T |
C |
11: 97,005,536 (GRCm39) |
H143R |
probably benign |
Het |
| Tg |
T |
A |
15: 66,699,231 (GRCm39) |
C833* |
probably null |
Het |
| Tmem245 |
A |
G |
4: 56,925,057 (GRCm39) |
S355P |
probably benign |
Het |
| Tmem86b |
G |
A |
7: 4,631,465 (GRCm39) |
P191S |
possibly damaging |
Het |
| Tnc |
A |
G |
4: 63,936,223 (GRCm39) |
C238R |
probably damaging |
Het |
| Tnn |
T |
A |
1: 159,968,308 (GRCm39) |
E361D |
probably benign |
Het |
| Tpp2 |
T |
C |
1: 44,040,633 (GRCm39) |
V298A |
possibly damaging |
Het |
| Trav7-6 |
A |
G |
14: 53,954,536 (GRCm39) |
N22S |
probably damaging |
Het |
| Trim75 |
T |
C |
8: 65,435,091 (GRCm39) |
|
probably null |
Het |
| Trrap |
T |
A |
5: 144,763,527 (GRCm39) |
I2492N |
probably damaging |
Het |
| Ufl1 |
G |
T |
4: 25,254,773 (GRCm39) |
A561E |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,752,341 (GRCm39) |
V86A |
probably damaging |
Het |
| Vmn1r184 |
A |
G |
7: 25,966,793 (GRCm39) |
I180V |
possibly damaging |
Het |
| Vmn1r185 |
A |
G |
7: 26,310,920 (GRCm39) |
F195S |
possibly damaging |
Het |
| Vmn2r4 |
A |
C |
3: 64,306,019 (GRCm39) |
|
probably null |
Het |
| Vmn2r87 |
T |
C |
10: 130,308,298 (GRCm39) |
T647A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,813,336 (GRCm39) |
H198Q |
probably damaging |
Het |
| Wdfy4 |
T |
C |
14: 32,874,627 (GRCm39) |
T154A |
possibly damaging |
Het |
| Xirp2 |
A |
G |
2: 67,347,478 (GRCm39) |
M3240V |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,600,872 (GRCm39) |
R295G |
possibly damaging |
Het |
| Zfp619 |
G |
A |
7: 39,184,938 (GRCm39) |
V323I |
probably benign |
Het |
| Zfy1 |
A |
T |
Y: 726,004 (GRCm39) |
I587N |
possibly damaging |
Het |
| Zswim6 |
C |
T |
13: 107,863,110 (GRCm39) |
|
noncoding transcript |
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 |
|
R2005:Pard3b
|
UTSW |
1 |
62,184,050 (GRCm39) |
missense |
probably benign |
0.12 |
|
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 |
|
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'- GGATAATCCCCATGCCTCCTATAC -3'
(R):5'- AGGTTTTCTTCCTAGTCTTGGAACC -3'
Sequencing Primer
(F):5'- TATACTTATGACACCAGGCTGC -3'
(R):5'- AACCCGGGGACTCTTGCTTTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation