Incidental Mutation 'R8329:Pard3b'
ID |
644228 |
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 |
067859-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8329 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 62676957 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 1163
(Q1163K)
|
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 |
probably benign
Transcript: ENSMUST00000046673
AA Change: Q1101K
PolyPhen 2
Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000040439 Gene: ENSMUSG00000052062 AA Change: Q1101K
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: Q1163K
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000074837 Gene: ENSMUSG00000052062 AA Change: Q1163K
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: Q1064K
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000092510 Gene: ENSMUSG00000052062 AA Change: Q1064K
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (62/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
A |
4: 62,461,978 (GRCm39) |
|
probably null |
Het |
Ackr4 |
A |
G |
9: 103,976,660 (GRCm39) |
F96L |
possibly damaging |
Het |
Aco1 |
T |
C |
4: 40,186,376 (GRCm39) |
I596T |
possibly damaging |
Het |
Aff3 |
G |
A |
1: 38,244,135 (GRCm39) |
R879W |
probably benign |
Het |
Apob |
A |
G |
12: 8,061,135 (GRCm39) |
R3206G |
probably damaging |
Het |
Atg7 |
T |
A |
6: 114,663,057 (GRCm39) |
D224E |
possibly damaging |
Het |
Capn12 |
T |
C |
7: 28,582,626 (GRCm39) |
F167S |
probably damaging |
Het |
Ccdc3 |
T |
G |
2: 5,233,848 (GRCm39) |
V224G |
probably damaging |
Het |
Ces4a |
G |
A |
8: 105,874,714 (GRCm39) |
V452I |
probably damaging |
Het |
Cherp |
G |
A |
8: 73,215,852 (GRCm39) |
R834C |
|
Het |
Clptm1l |
T |
A |
13: 73,760,547 (GRCm39) |
I310N |
probably damaging |
Het |
Cog3 |
A |
T |
14: 75,978,003 (GRCm39) |
D230E |
probably damaging |
Het |
Crb1 |
T |
A |
1: 139,165,005 (GRCm39) |
I1101F |
probably damaging |
Het |
Cts6 |
A |
T |
13: 61,343,282 (GRCm39) |
M313K |
probably damaging |
Het |
Cyp2c66 |
T |
A |
19: 39,174,906 (GRCm39) |
C435* |
probably null |
Het |
Defb13 |
A |
G |
8: 22,438,562 (GRCm39) |
E40G |
probably benign |
Het |
Dis3l |
T |
C |
9: 64,219,112 (GRCm39) |
D606G |
possibly damaging |
Het |
Dop1b |
T |
C |
16: 93,568,675 (GRCm39) |
L1579P |
probably damaging |
Het |
Foxa3 |
A |
G |
7: 18,748,109 (GRCm39) |
V339A |
probably benign |
Het |
Gcn1 |
G |
A |
5: 115,747,921 (GRCm39) |
G1776E |
probably damaging |
Het |
Gls2 |
A |
G |
10: 128,037,154 (GRCm39) |
T232A |
probably benign |
Het |
Gprc6a |
A |
T |
10: 51,503,355 (GRCm39) |
Y169* |
probably null |
Het |
Guca2b |
T |
C |
4: 119,516,001 (GRCm39) |
S18G |
unknown |
Het |
Hars2 |
A |
G |
18: 36,922,288 (GRCm39) |
D301G |
possibly damaging |
Het |
Haus5 |
T |
A |
7: 30,358,984 (GRCm39) |
Q226L |
possibly damaging |
Het |
Hc |
G |
A |
2: 34,902,910 (GRCm39) |
|
probably null |
Het |
Hivep2 |
T |
C |
10: 14,004,011 (GRCm39) |
V203A |
probably damaging |
Het |
Hoxc8 |
A |
G |
15: 102,899,543 (GRCm39) |
Y111C |
probably damaging |
Het |
Hoxd13 |
G |
T |
2: 74,498,661 (GRCm39) |
R3L |
probably benign |
Het |
Hspa8 |
T |
G |
9: 40,713,897 (GRCm39) |
I130S |
probably damaging |
Het |
Ier5l |
C |
A |
2: 30,362,861 (GRCm39) |
C388F |
possibly damaging |
Het |
Ldc1 |
C |
T |
4: 130,109,156 (GRCm39) |
V295M |
possibly damaging |
Het |
Lmx1a |
A |
G |
1: 167,517,372 (GRCm39) |
N10S |
probably benign |
Het |
Map2 |
T |
C |
1: 66,454,272 (GRCm39) |
I1054T |
probably benign |
Het |
Me1 |
C |
T |
9: 86,501,790 (GRCm39) |
D268N |
probably damaging |
Het |
Muc6 |
G |
A |
7: 141,226,525 (GRCm39) |
P1501S |
unknown |
Het |
Myo1d |
T |
C |
11: 80,528,900 (GRCm39) |
M641V |
probably benign |
Het |
Nuggc |
G |
A |
14: 65,878,731 (GRCm39) |
R667K |
probably benign |
Het |
Oprl1 |
T |
A |
2: 181,360,717 (GRCm39) |
C231S |
probably damaging |
Het |
Or11g26 |
T |
C |
14: 50,753,015 (GRCm39) |
F118S |
probably damaging |
Het |
Or13p10 |
A |
C |
4: 118,523,604 (GRCm39) |
N297H |
probably damaging |
Het |
Pik3c2a |
T |
C |
7: 116,017,283 (GRCm39) |
Y158C |
probably damaging |
Het |
Prune2 |
T |
G |
19: 17,098,629 (GRCm39) |
S1378A |
probably benign |
Het |
Ralgps2 |
G |
T |
1: 156,712,110 (GRCm39) |
T158K |
probably damaging |
Het |
Rbm42 |
T |
A |
7: 30,344,582 (GRCm39) |
E227V |
unknown |
Het |
Ripor3 |
T |
C |
2: 167,825,119 (GRCm39) |
R797G |
possibly damaging |
Het |
Ryr3 |
T |
A |
2: 112,492,855 (GRCm39) |
H3764L |
possibly damaging |
Het |
Sbno2 |
T |
C |
10: 79,900,221 (GRCm39) |
Y541C |
probably damaging |
Het |
Scn5a |
A |
G |
9: 119,365,030 (GRCm39) |
V396A |
probably damaging |
Het |
Slc36a3 |
A |
G |
11: 55,039,409 (GRCm39) |
L73P |
probably damaging |
Het |
Spag16 |
T |
C |
1: 69,934,407 (GRCm39) |
I278T |
probably benign |
Het |
Stx18 |
T |
A |
5: 38,285,450 (GRCm39) |
L274* |
probably null |
Het |
Terb1 |
A |
T |
8: 105,211,003 (GRCm39) |
N341K |
probably damaging |
Het |
Timm29 |
A |
G |
9: 21,505,001 (GRCm39) |
Y223C |
probably damaging |
Het |
Tmprss2 |
T |
A |
16: 97,369,665 (GRCm39) |
M370L |
probably benign |
Het |
Tmtc3 |
T |
A |
10: 100,283,296 (GRCm39) |
N753I |
probably damaging |
Het |
Tnpo3 |
A |
T |
6: 29,558,832 (GRCm39) |
C699* |
probably null |
Het |
Trav5d-4 |
G |
A |
14: 53,239,208 (GRCm39) |
W13* |
probably null |
Het |
Trdn |
A |
G |
10: 33,320,074 (GRCm39) |
|
probably null |
Het |
Tsg101 |
A |
T |
7: 46,558,808 (GRCm39) |
Y68N |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,664,062 (GRCm39) |
V11649A |
unknown |
Het |
Wnk2 |
A |
T |
13: 49,248,914 (GRCm39) |
V379D |
probably damaging |
Het |
Xpnpep1 |
A |
G |
19: 52,990,903 (GRCm39) |
|
probably null |
Het |
Yme1l1 |
C |
T |
2: 23,054,597 (GRCm39) |
Q139* |
probably null |
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 |
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 |
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'- AGAGCTTCCATACTACCCAGG -3'
(R):5'- TCTGTACCACGGAACACCTTAG -3'
Sequencing Primer
(F):5'- AGGGCCTCATCCTGTACATG -3'
(R):5'- AGGCCTTAGGTTCTAGCAACG -3'
|
Posted On |
2020-09-02 |