Incidental Mutation 'R4729:Pard3b'
ID |
358647 |
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 |
041603-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4729 (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 G
at 62250843 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 591
(R591G)
|
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 |
possibly damaging
Transcript: ENSMUST00000046673
AA Change: R529G
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000040439 Gene: ENSMUSG00000052062 AA Change: R529G
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: R591G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074837 Gene: ENSMUSG00000052062 AA Change: R591G
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 |
possibly damaging
Transcript: ENSMUST00000094906
AA Change: R591G
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000092510 Gene: ENSMUSG00000052062 AA Change: R591G
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: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930562C15Rik |
T |
A |
16: 4,667,187 (GRCm39) |
L220H |
unknown |
Het |
Amt |
T |
A |
9: 108,177,851 (GRCm39) |
L272Q |
probably damaging |
Het |
Ank2 |
G |
C |
3: 126,770,545 (GRCm39) |
Y894* |
probably null |
Het |
Ankzf1 |
T |
A |
1: 75,170,908 (GRCm39) |
F105I |
probably damaging |
Het |
Aox4 |
C |
A |
1: 58,298,236 (GRCm39) |
Y1067* |
probably null |
Het |
BC034090 |
T |
A |
1: 155,100,836 (GRCm39) |
Q476L |
probably damaging |
Het |
Bhmt |
G |
T |
13: 93,763,871 (GRCm39) |
R57S |
probably damaging |
Het |
Cacna1c |
A |
T |
6: 118,633,136 (GRCm39) |
F964L |
probably damaging |
Het |
Celsr3 |
A |
C |
9: 108,724,851 (GRCm39) |
S396R |
probably benign |
Het |
Cpne4 |
C |
A |
9: 104,799,755 (GRCm39) |
Q191K |
probably damaging |
Het |
Csnk1g2 |
T |
C |
10: 80,475,038 (GRCm39) |
Y352H |
probably benign |
Het |
D630003M21Rik |
A |
G |
2: 158,058,623 (GRCm39) |
S426P |
probably damaging |
Het |
Dennd10 |
T |
A |
19: 60,823,309 (GRCm39) |
F315I |
probably benign |
Het |
Dido1 |
G |
T |
2: 180,329,443 (GRCm39) |
N326K |
probably benign |
Het |
E2f2 |
T |
A |
4: 135,911,760 (GRCm39) |
I257N |
probably damaging |
Het |
Elfn1 |
T |
G |
5: 139,959,413 (GRCm39) |
F806V |
probably damaging |
Het |
Eml6 |
T |
A |
11: 29,783,204 (GRCm39) |
Y559F |
probably damaging |
Het |
Erich6 |
A |
G |
3: 58,543,480 (GRCm39) |
|
probably null |
Het |
Fam78a |
T |
C |
2: 31,972,617 (GRCm39) |
N101S |
probably damaging |
Het |
Fam83h |
A |
G |
15: 75,874,185 (GRCm39) |
S1051P |
probably benign |
Het |
Galns |
C |
T |
8: 123,330,195 (GRCm39) |
G112D |
probably damaging |
Het |
Gm9923 |
A |
G |
10: 72,145,524 (GRCm39) |
K125R |
probably damaging |
Het |
Hectd3 |
G |
A |
4: 116,854,415 (GRCm39) |
V326M |
probably damaging |
Het |
Iars2 |
A |
G |
1: 185,048,248 (GRCm39) |
S495P |
possibly damaging |
Het |
Ice1 |
T |
C |
13: 70,754,503 (GRCm39) |
R528G |
probably damaging |
Het |
Igkv12-38 |
T |
A |
6: 69,920,368 (GRCm39) |
Y50F |
possibly damaging |
Het |
Inpp5j |
T |
C |
11: 3,445,025 (GRCm39) |
S883G |
probably damaging |
Het |
Irf8 |
T |
C |
8: 121,480,178 (GRCm39) |
S139P |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
Kcnq4 |
G |
T |
4: 120,570,271 (GRCm39) |
D357E |
possibly damaging |
Het |
Klhl1 |
A |
G |
14: 96,517,584 (GRCm39) |
L364P |
probably damaging |
Het |
Krt7 |
A |
G |
15: 101,318,439 (GRCm39) |
I309V |
probably benign |
Het |
Krt76 |
G |
T |
15: 101,797,516 (GRCm39) |
A281D |
probably damaging |
Het |
Lancl2 |
T |
C |
6: 57,714,697 (GRCm39) |
F430L |
probably damaging |
Het |
Llgl2 |
T |
C |
11: 115,739,125 (GRCm39) |
V332A |
probably damaging |
Het |
Lrrc26 |
A |
T |
2: 25,180,076 (GRCm39) |
T26S |
probably benign |
Het |
Lrrk1 |
T |
A |
7: 65,912,041 (GRCm39) |
M1840L |
probably benign |
Het |
Lyst |
G |
A |
13: 13,812,486 (GRCm39) |
C966Y |
probably damaging |
Het |
Mad1l1 |
T |
A |
5: 140,247,266 (GRCm39) |
S354C |
possibly damaging |
Het |
Mbtps1 |
C |
T |
8: 120,252,159 (GRCm39) |
G577D |
probably damaging |
Het |
Mycbp2 |
C |
T |
14: 103,426,027 (GRCm39) |
R2366H |
probably damaging |
Het |
Myo18a |
T |
G |
11: 77,668,511 (GRCm39) |
|
probably null |
Het |
Naip5 |
G |
A |
13: 100,358,639 (GRCm39) |
R866C |
possibly damaging |
Het |
Nav2 |
T |
A |
7: 49,102,567 (GRCm39) |
V455E |
probably benign |
Het |
Neb |
A |
G |
2: 52,153,674 (GRCm39) |
I2417T |
possibly damaging |
Het |
Nme5 |
C |
T |
18: 34,702,890 (GRCm39) |
A133T |
probably benign |
Het |
Nradd |
T |
C |
9: 110,450,979 (GRCm39) |
D51G |
possibly damaging |
Het |
Pcbp4 |
T |
C |
9: 106,337,929 (GRCm39) |
F73S |
probably damaging |
Het |
Pcdhb11 |
C |
T |
18: 37,555,419 (GRCm39) |
Q250* |
probably null |
Het |
Pde1c |
T |
A |
6: 56,049,194 (GRCm39) |
K766N |
probably damaging |
Het |
Phf21b |
G |
A |
15: 84,738,942 (GRCm39) |
Q40* |
probably null |
Het |
Prr14 |
A |
G |
7: 127,073,868 (GRCm39) |
D244G |
probably benign |
Het |
Rab11fip5 |
C |
T |
6: 85,351,249 (GRCm39) |
A88T |
probably damaging |
Het |
Rad54l2 |
A |
T |
9: 106,593,317 (GRCm39) |
S428T |
probably benign |
Het |
Rdh9 |
A |
G |
10: 127,612,621 (GRCm39) |
I90V |
probably benign |
Het |
Rhag |
G |
T |
17: 41,139,292 (GRCm39) |
G76C |
probably damaging |
Het |
Riok3 |
T |
A |
18: 12,261,984 (GRCm39) |
V6E |
possibly damaging |
Het |
Rnf7l |
A |
T |
10: 63,257,244 (GRCm39) |
V92E |
probably damaging |
Het |
Scn10a |
A |
G |
9: 119,500,592 (GRCm39) |
I229T |
probably damaging |
Het |
Slco1a1 |
G |
T |
6: 141,854,695 (GRCm39) |
T652K |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,635,459 (GRCm39) |
I345F |
probably damaging |
Het |
Snrnp200 |
A |
T |
2: 127,074,857 (GRCm39) |
I1477F |
probably damaging |
Het |
Snx31 |
G |
A |
15: 36,523,698 (GRCm39) |
T328I |
possibly damaging |
Het |
Strn |
A |
G |
17: 78,965,390 (GRCm39) |
F634S |
probably damaging |
Het |
Tmem101 |
C |
T |
11: 102,047,155 (GRCm39) |
G6R |
probably benign |
Het |
Tmem199 |
C |
G |
11: 78,399,506 (GRCm39) |
G131R |
probably benign |
Het |
Trim66 |
A |
G |
7: 109,055,267 (GRCm39) |
|
probably null |
Het |
Ttn |
G |
T |
2: 76,681,929 (GRCm39) |
|
probably benign |
Het |
Upk3bl |
T |
C |
5: 136,086,247 (GRCm39) |
L61P |
probably benign |
Het |
Vmn2r108 |
A |
G |
17: 20,692,632 (GRCm39) |
Y75H |
probably damaging |
Het |
Vmn2r91 |
T |
A |
17: 18,327,906 (GRCm39) |
I500K |
probably damaging |
Het |
Vps18 |
C |
T |
2: 119,124,272 (GRCm39) |
R400C |
probably damaging |
Het |
Zeb1 |
C |
T |
18: 5,767,286 (GRCm39) |
P599L |
probably damaging |
Het |
Zfhx4 |
G |
T |
3: 5,464,557 (GRCm39) |
A1572S |
probably damaging |
Het |
Zfp677 |
T |
A |
17: 21,617,680 (GRCm39) |
C246S |
possibly damaging |
Het |
Zfp719 |
T |
A |
7: 43,239,834 (GRCm39) |
I474N |
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 |
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 |
|
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'- AAATGTTCCTCTAAACAGCTTCCC -3'
(R):5'- TGAGCATAGGCCCTGGTAAAC -3'
Sequencing Primer
(F):5'- GGCCTCACACTGTGTCCAC -3'
(R):5'- CCCTGGTAAACATAGACCTGTGATG -3'
|
Posted On |
2015-11-11 |