Incidental Mutation 'R1482:Pard3b'
ID |
164416 |
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 |
039535-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1482 (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 62205526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 440
(D440V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046673]
[ENSMUST00000075374]
[ENSMUST00000094906]
|
AlphaFold |
Q9CSB4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000046673
AA Change: D440V
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000040439 Gene: ENSMUSG00000052062 AA Change: D440V
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 damaging
Transcript: ENSMUST00000075374
AA Change: D440V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074837 Gene: ENSMUSG00000052062 AA Change: D440V
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 damaging
Transcript: ENSMUST00000094906
AA Change: D440V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092510 Gene: ENSMUSG00000052062 AA Change: D440V
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: 98.8%
- 3x: 97.7%
- 10x: 93.8%
- 20x: 83.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810055G02Rik |
G |
A |
19: 3,767,192 (GRCm39) |
D260N |
probably benign |
Het |
Ankef1 |
A |
T |
2: 136,392,078 (GRCm39) |
K422N |
possibly damaging |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
Aqp6 |
A |
T |
15: 99,502,188 (GRCm39) |
*294C |
probably null |
Het |
Baz2a |
T |
A |
10: 127,944,877 (GRCm39) |
M38K |
possibly damaging |
Het |
Bcl2l14 |
A |
G |
6: 134,404,265 (GRCm39) |
D151G |
probably damaging |
Het |
Cabp5 |
T |
A |
7: 13,132,267 (GRCm39) |
L12* |
probably null |
Het |
Cachd1 |
T |
C |
4: 100,845,795 (GRCm39) |
V993A |
possibly damaging |
Het |
Cd44 |
G |
A |
2: 102,661,728 (GRCm39) |
T306I |
probably damaging |
Het |
Cdc20 |
A |
T |
4: 118,294,253 (GRCm39) |
N22K |
probably benign |
Het |
Cdc6 |
T |
A |
11: 98,807,807 (GRCm39) |
D433E |
possibly damaging |
Het |
Clhc1 |
A |
G |
11: 29,503,725 (GRCm39) |
D47G |
probably damaging |
Het |
Csf2 |
T |
C |
11: 54,139,389 (GRCm39) |
K65E |
probably benign |
Het |
Cul9 |
T |
C |
17: 46,819,473 (GRCm39) |
E2005G |
probably damaging |
Het |
Dclk3 |
G |
T |
9: 111,296,888 (GRCm39) |
R144L |
possibly damaging |
Het |
Dcpp2 |
C |
T |
17: 24,119,516 (GRCm39) |
T110I |
probably damaging |
Het |
Disp1 |
A |
T |
1: 182,868,038 (GRCm39) |
F1461I |
possibly damaging |
Het |
Dnah1 |
C |
T |
14: 31,016,831 (GRCm39) |
G1562D |
probably damaging |
Het |
Ecpas |
T |
C |
4: 58,820,163 (GRCm39) |
K1217E |
possibly damaging |
Het |
Exoc3l2 |
C |
A |
7: 19,229,284 (GRCm39) |
P234Q |
probably damaging |
Het |
F2rl2 |
T |
C |
13: 95,838,047 (GRCm39) |
V364A |
probably benign |
Het |
Fam151a |
T |
C |
4: 106,602,876 (GRCm39) |
L265P |
probably damaging |
Het |
Fam151b |
T |
A |
13: 92,586,674 (GRCm39) |
Q253L |
probably benign |
Het |
Fat1 |
G |
A |
8: 45,406,281 (GRCm39) |
V1011M |
probably benign |
Het |
Fbxo6 |
G |
A |
4: 148,230,441 (GRCm39) |
R274* |
probably null |
Het |
Fgd4 |
G |
T |
16: 16,302,337 (GRCm39) |
Q73K |
probably benign |
Het |
Fth1 |
A |
G |
19: 9,962,217 (GRCm39) |
T154A |
probably benign |
Het |
Hgs |
C |
A |
11: 120,370,866 (GRCm39) |
H572Q |
probably benign |
Het |
Kcnk10 |
G |
A |
12: 98,456,207 (GRCm39) |
T208I |
probably damaging |
Het |
Kdm5b |
G |
A |
1: 134,552,635 (GRCm39) |
V1204M |
probably damaging |
Het |
Keg1 |
A |
C |
19: 12,696,185 (GRCm39) |
H166P |
probably damaging |
Het |
Kifap3 |
A |
T |
1: 163,653,428 (GRCm39) |
N338I |
possibly damaging |
Het |
Llcfc1 |
A |
T |
6: 41,662,218 (GRCm39) |
D74V |
probably damaging |
Het |
Lman2 |
A |
G |
13: 55,499,218 (GRCm39) |
V219A |
possibly damaging |
Het |
Mettl25 |
A |
G |
10: 105,662,451 (GRCm39) |
I173T |
possibly damaging |
Het |
Mov10 |
G |
T |
3: 104,711,862 (GRCm39) |
P170Q |
probably damaging |
Het |
Mtif2 |
G |
T |
11: 29,486,847 (GRCm39) |
A286S |
probably damaging |
Het |
Mtmr10 |
A |
G |
7: 63,963,997 (GRCm39) |
Y244C |
probably damaging |
Het |
Nbea |
A |
T |
3: 55,987,414 (GRCm39) |
C359S |
probably damaging |
Het |
Nbr1 |
C |
T |
11: 101,463,667 (GRCm39) |
T633I |
probably benign |
Het |
Nepn |
A |
T |
10: 52,276,512 (GRCm39) |
T22S |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Oacyl |
T |
A |
18: 65,871,043 (GRCm39) |
L342M |
probably damaging |
Het |
Or2ag17 |
A |
G |
7: 106,389,540 (GRCm39) |
F223L |
probably benign |
Het |
Or52b2 |
T |
A |
7: 104,986,463 (GRCm39) |
R153S |
probably damaging |
Het |
Or6c205 |
T |
A |
10: 129,087,012 (GRCm39) |
I203N |
possibly damaging |
Het |
Or7e176 |
G |
A |
9: 20,172,020 (GRCm39) |
V295I |
possibly damaging |
Het |
Oxnad1 |
T |
C |
14: 31,821,590 (GRCm39) |
|
probably null |
Het |
Pou3f2 |
T |
G |
4: 22,486,960 (GRCm39) |
D391A |
possibly damaging |
Het |
Ptprk |
T |
C |
10: 28,139,512 (GRCm39) |
V79A |
probably benign |
Het |
Rwdd2a |
A |
G |
9: 86,456,331 (GRCm39) |
D169G |
probably damaging |
Het |
Scn3b |
A |
C |
9: 40,190,792 (GRCm39) |
D74A |
probably damaging |
Het |
Setbp1 |
C |
T |
18: 79,130,050 (GRCm39) |
D61N |
probably damaging |
Het |
Setx |
T |
A |
2: 29,053,004 (GRCm39) |
D2089E |
probably damaging |
Het |
Vmn2r69 |
C |
G |
7: 85,056,082 (GRCm39) |
W685C |
probably damaging |
Het |
Vps8 |
A |
G |
16: 21,400,348 (GRCm39) |
Q1272R |
probably benign |
Het |
Wnk4 |
T |
C |
11: 101,160,462 (GRCm39) |
F699L |
probably damaging |
Het |
Zfp616 |
T |
A |
11: 73,974,803 (GRCm39) |
N448K |
possibly damaging |
Het |
Zfp618 |
C |
A |
4: 63,033,685 (GRCm39) |
D307E |
possibly damaging |
Het |
Zfp687 |
A |
G |
3: 94,914,844 (GRCm39) |
F1219S |
probably damaging |
Het |
Zfpm2 |
T |
A |
15: 40,962,687 (GRCm39) |
D248E |
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 |
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'- GCACACTTAATCCACAACATAGGTCGT -3'
(R):5'- GTGGGAATGCCACAAACATCACAC -3'
Sequencing Primer
(F):5'- catgtttaccataccagcactc -3'
(R):5'- GCCACAAACATCACACACAGAG -3'
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Posted On |
2014-03-28 |