Incidental Mutation 'R0465:Pard3b'
ID |
41546 |
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 |
038665-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0465 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 62250877 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046673]
[ENSMUST00000075374]
[ENSMUST00000094906]
|
AlphaFold |
Q9CSB4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046673
|
SMART Domains |
Protein: ENSMUSP00000040439 Gene: ENSMUSG00000052062
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
|
SMART Domains |
Protein: ENSMUSP00000074837 Gene: ENSMUSG00000052062
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
|
SMART Domains |
Protein: ENSMUSP00000092510 Gene: ENSMUSG00000052062
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 |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.2%
|
Validation Efficiency |
100% (71/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
T |
A |
17: 56,092,137 (GRCm39) |
|
probably benign |
Het |
Ankrd13a |
T |
A |
5: 114,942,295 (GRCm39) |
I526N |
probably damaging |
Het |
Aox1 |
G |
A |
1: 58,101,366 (GRCm39) |
V446I |
probably damaging |
Het |
Arid1b |
G |
A |
17: 5,046,535 (GRCm39) |
G441D |
possibly damaging |
Het |
Bdkrb2 |
A |
T |
12: 105,558,118 (GRCm39) |
N120Y |
possibly damaging |
Het |
Bud31 |
G |
A |
5: 145,083,396 (GRCm39) |
V80I |
probably damaging |
Het |
Camkmt |
T |
A |
17: 85,738,950 (GRCm39) |
F225L |
probably damaging |
Het |
Carf |
T |
C |
1: 60,171,142 (GRCm39) |
M200T |
probably damaging |
Het |
Carmil3 |
T |
C |
14: 55,737,318 (GRCm39) |
L767P |
probably damaging |
Het |
Cdk14 |
T |
A |
5: 5,143,019 (GRCm39) |
R237S |
probably damaging |
Het |
Cdx2 |
C |
A |
5: 147,243,283 (GRCm39) |
K170N |
possibly damaging |
Het |
Cfap65 |
G |
A |
1: 74,956,043 (GRCm39) |
R1093C |
possibly damaging |
Het |
Cnot8 |
T |
A |
11: 58,004,886 (GRCm39) |
V195E |
probably damaging |
Het |
Copa |
T |
C |
1: 171,945,872 (GRCm39) |
F936S |
probably damaging |
Het |
Cstdc1 |
A |
G |
2: 148,625,345 (GRCm39) |
N93S |
probably benign |
Het |
Dnai1 |
T |
A |
4: 41,629,988 (GRCm39) |
|
probably null |
Het |
Dsel |
T |
C |
1: 111,789,992 (GRCm39) |
N181S |
probably benign |
Het |
Enpp7 |
A |
G |
11: 118,879,607 (GRCm39) |
N87S |
probably damaging |
Het |
Fads1 |
C |
T |
19: 10,160,429 (GRCm39) |
P5L |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gm12695 |
T |
C |
4: 96,673,312 (GRCm39) |
Y29C |
probably damaging |
Het |
Gm5592 |
T |
A |
7: 40,805,481 (GRCm39) |
|
probably benign |
Het |
Gmnc |
T |
G |
16: 26,781,702 (GRCm39) |
N109T |
probably damaging |
Het |
Gstcd |
A |
G |
3: 132,688,905 (GRCm39) |
I615T |
probably benign |
Het |
Hal |
A |
C |
10: 93,352,146 (GRCm39) |
K646Q |
probably benign |
Het |
Hbs1l |
A |
G |
10: 21,227,940 (GRCm39) |
I472V |
probably null |
Het |
Ift27 |
A |
T |
15: 78,057,958 (GRCm39) |
|
probably benign |
Het |
Iqub |
A |
T |
6: 24,503,783 (GRCm39) |
I163N |
probably damaging |
Het |
Isg20l2 |
T |
A |
3: 87,838,987 (GRCm39) |
V66E |
probably benign |
Het |
Itgb4 |
T |
C |
11: 115,870,582 (GRCm39) |
M137T |
probably damaging |
Het |
Lca5 |
T |
A |
9: 83,277,920 (GRCm39) |
K475* |
probably null |
Het |
Lyve1 |
A |
G |
7: 110,452,034 (GRCm39) |
|
probably null |
Het |
Map3k19 |
T |
C |
1: 127,766,264 (GRCm39) |
D220G |
probably damaging |
Het |
Mdn1 |
T |
A |
4: 32,699,204 (GRCm39) |
|
probably benign |
Het |
Mmp15 |
T |
C |
8: 96,094,626 (GRCm39) |
W167R |
probably damaging |
Het |
Ms4a13 |
A |
G |
19: 11,149,957 (GRCm39) |
C135R |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,101,243 (GRCm39) |
H673R |
possibly damaging |
Het |
Myrf |
G |
C |
19: 10,195,526 (GRCm39) |
T428S |
probably benign |
Het |
Oas2 |
A |
G |
5: 120,873,120 (GRCm39) |
I645T |
probably damaging |
Het |
Or52s6 |
A |
T |
7: 103,092,042 (GRCm39) |
F96Y |
possibly damaging |
Het |
Patj |
T |
A |
4: 98,423,744 (GRCm39) |
|
probably null |
Het |
Pcare |
A |
G |
17: 72,057,155 (GRCm39) |
C841R |
probably benign |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pkd1l3 |
G |
A |
8: 110,350,295 (GRCm39) |
S380N |
probably benign |
Het |
Rab34 |
C |
A |
11: 78,081,337 (GRCm39) |
C67* |
probably null |
Het |
Rimbp3 |
T |
C |
16: 17,029,644 (GRCm39) |
S1023P |
possibly damaging |
Het |
Rnf148 |
T |
C |
6: 23,654,684 (GRCm39) |
N104S |
probably benign |
Het |
Rpa1 |
T |
C |
11: 75,203,921 (GRCm39) |
T288A |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,357,340 (GRCm39) |
L976P |
probably damaging |
Het |
Serpina12 |
T |
A |
12: 104,004,104 (GRCm39) |
D176V |
probably benign |
Het |
Sik1 |
C |
T |
17: 32,073,996 (GRCm39) |
V10I |
possibly damaging |
Het |
Sntb1 |
C |
A |
15: 55,612,672 (GRCm39) |
R302L |
probably benign |
Het |
Stambp |
A |
G |
6: 83,547,321 (GRCm39) |
I56T |
probably benign |
Het |
Tac2 |
A |
G |
10: 127,565,039 (GRCm39) |
|
probably benign |
Het |
Tecta |
A |
T |
9: 42,270,714 (GRCm39) |
I1198K |
possibly damaging |
Het |
Tfip11 |
C |
T |
5: 112,481,130 (GRCm39) |
R369C |
probably benign |
Het |
Tnpo1 |
A |
G |
13: 99,021,142 (GRCm39) |
I79T |
probably damaging |
Het |
Ttll5 |
A |
T |
12: 85,980,100 (GRCm39) |
N895Y |
probably benign |
Het |
Ube2u |
T |
A |
4: 100,389,293 (GRCm39) |
|
probably benign |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn2r1 |
T |
C |
3: 63,989,180 (GRCm39) |
S40P |
possibly damaging |
Het |
Vmn2r100 |
G |
A |
17: 19,751,792 (GRCm39) |
V612I |
probably damaging |
Het |
Vmn2r59 |
G |
T |
7: 41,696,332 (GRCm39) |
H137N |
probably benign |
Het |
Vsig10l |
T |
C |
7: 43,116,866 (GRCm39) |
V467A |
probably damaging |
Het |
Vwde |
A |
G |
6: 13,215,805 (GRCm39) |
|
probably benign |
Het |
Xrra1 |
T |
A |
7: 99,528,578 (GRCm39) |
D139E |
probably benign |
Het |
Zc3h15 |
T |
C |
2: 83,494,159 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
C |
T |
3: 5,310,716 (GRCm39) |
|
probably benign |
Het |
Zscan18 |
A |
G |
7: 12,509,413 (GRCm39) |
|
probably benign |
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 |
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 |
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'- GCCGTCTCCGAATGAATGACCAAC -3'
(R):5'- CCTACCAATTTCTGAGCATAGGCCC -3'
Sequencing Primer
(F):5'- CTCCGAATGAATGACCAACTGATTG -3'
(R):5'- CCCTGGTAAACATAGACCTGTGATG -3'
|
Posted On |
2013-05-23 |