Incidental Mutation 'R6809:Pard3b'
ID |
533679 |
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 |
044922-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6809 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 62200340 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 293
(R293H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046673]
[ENSMUST00000075374]
[ENSMUST00000094906]
|
AlphaFold |
Q9CSB4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046673
AA Change: R293H
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040439 Gene: ENSMUSG00000052062 AA Change: R293H
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: R293H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000074837 Gene: ENSMUSG00000052062 AA Change: R293H
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: R293H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000092510 Gene: ENSMUSG00000052062 AA Change: R293H
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 |
|
Meta Mutation Damage Score |
0.1309 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
Validation Efficiency |
96% (51/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
T |
A |
1: 192,857,089 (GRCm39) |
V147E |
possibly damaging |
Het |
Abtb3 |
A |
G |
10: 85,467,240 (GRCm39) |
T732A |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,621,072 (GRCm39) |
M3893K |
probably benign |
Het |
Aox3 |
T |
C |
1: 58,157,840 (GRCm39) |
S66P |
probably damaging |
Het |
Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
Bloc1s5 |
A |
G |
13: 38,787,961 (GRCm39) |
V141A |
probably benign |
Het |
Bltp1 |
A |
G |
3: 36,928,431 (GRCm39) |
N61S |
probably damaging |
Het |
Col28a1 |
T |
C |
6: 7,999,468 (GRCm39) |
Y1083C |
probably damaging |
Het |
Crb1 |
A |
G |
1: 139,170,864 (GRCm39) |
V842A |
probably benign |
Het |
Dapk1 |
A |
G |
13: 60,899,103 (GRCm39) |
S858G |
probably benign |
Het |
Dlgap2 |
G |
T |
8: 14,229,619 (GRCm39) |
|
probably benign |
Het |
Dpysl4 |
A |
G |
7: 138,673,576 (GRCm39) |
D199G |
probably benign |
Het |
Eml6 |
C |
T |
11: 29,753,161 (GRCm39) |
V917I |
probably benign |
Het |
Fut9 |
T |
A |
4: 25,620,647 (GRCm39) |
T56S |
probably benign |
Het |
Gtdc1 |
G |
C |
2: 44,465,563 (GRCm39) |
S214* |
probably null |
Het |
Gtdc1 |
A |
G |
2: 44,715,396 (GRCm39) |
F49S |
probably damaging |
Het |
Hoxd9 |
A |
G |
2: 74,529,590 (GRCm39) |
Y282C |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,985,803 (GRCm39) |
E318G |
probably benign |
Het |
Ikzf2 |
T |
C |
1: 69,609,661 (GRCm39) |
T195A |
probably damaging |
Het |
Krt36 |
A |
T |
11: 99,996,335 (GRCm39) |
S30T |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,390,925 (GRCm39) |
F2991L |
probably benign |
Het |
Lrrc34 |
T |
A |
3: 30,688,749 (GRCm39) |
Q184L |
possibly damaging |
Het |
Mapk1 |
A |
T |
16: 16,853,326 (GRCm39) |
M49L |
probably benign |
Het |
Mroh2a |
G |
T |
1: 88,162,938 (GRCm39) |
Q360H |
probably benign |
Het |
Mrpl48 |
A |
G |
7: 100,195,574 (GRCm39) |
|
probably benign |
Het |
Ncln |
A |
G |
10: 81,323,512 (GRCm39) |
|
probably null |
Het |
Nol4 |
T |
A |
18: 23,053,882 (GRCm39) |
Q96L |
probably damaging |
Het |
Or2y1e |
G |
T |
11: 49,218,687 (GRCm39) |
V150L |
probably benign |
Het |
Or5g25 |
G |
A |
2: 85,478,317 (GRCm39) |
A116V |
probably damaging |
Het |
Padi2 |
A |
G |
4: 140,674,077 (GRCm39) |
|
probably null |
Het |
Pak5 |
T |
G |
2: 135,939,501 (GRCm39) |
I545L |
possibly damaging |
Het |
Paqr5 |
T |
A |
9: 61,876,064 (GRCm39) |
R157W |
probably null |
Het |
Phf11d |
C |
A |
14: 59,593,844 (GRCm39) |
C110F |
probably damaging |
Het |
Pkn2 |
G |
A |
3: 142,504,765 (GRCm39) |
P804S |
probably damaging |
Het |
Pnpla6 |
G |
A |
8: 3,584,611 (GRCm39) |
C743Y |
possibly damaging |
Het |
Pramel14 |
A |
G |
4: 143,719,651 (GRCm39) |
V238A |
probably benign |
Het |
Pramel58 |
C |
A |
5: 94,831,277 (GRCm39) |
Q95K |
probably benign |
Het |
Psip1 |
A |
G |
4: 83,386,879 (GRCm39) |
M164T |
probably benign |
Het |
Rgs22 |
C |
G |
15: 36,048,910 (GRCm39) |
S914T |
probably damaging |
Het |
Rufy4 |
G |
A |
1: 74,172,206 (GRCm39) |
V310I |
probably benign |
Het |
Ryr2 |
G |
A |
13: 11,741,816 (GRCm39) |
L2122F |
probably damaging |
Het |
Sgcb |
T |
G |
5: 73,798,036 (GRCm39) |
N142T |
probably benign |
Het |
Slc27a6 |
A |
G |
18: 58,738,126 (GRCm39) |
E394G |
probably benign |
Het |
Slc29a2 |
T |
C |
19: 5,079,271 (GRCm39) |
V298A |
probably damaging |
Het |
Slf2 |
C |
A |
19: 44,931,907 (GRCm39) |
T654N |
probably damaging |
Het |
Spata4 |
A |
C |
8: 55,055,368 (GRCm39) |
K123Q |
possibly damaging |
Het |
Taar7b |
T |
C |
10: 23,876,756 (GRCm39) |
V307A |
probably benign |
Het |
Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
Ttn |
T |
C |
2: 76,693,983 (GRCm39) |
E295G |
possibly damaging |
Het |
Ubqln4 |
A |
T |
3: 88,462,679 (GRCm39) |
Q48L |
possibly damaging |
Het |
Ugt1a10 |
T |
A |
1: 87,983,647 (GRCm39) |
D148E |
probably damaging |
Het |
Vmn2r85 |
T |
A |
10: 130,261,795 (GRCm39) |
N181Y |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,071,813 (GRCm39) |
V1026I |
possibly 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 |
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 |
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'- TATGACACCAGGCTGCTCTG -3'
(R):5'- TCTTGCTGCCAAACCCCATG -3'
Sequencing Primer
(F):5'- ACACCAGGCTGCTCTGCTTAC -3'
(R):5'- TTCCTAGTCTTGGAACCCGGG -3'
|
Posted On |
2018-09-12 |