Incidental Mutation 'R8766:Pard3b'
| ID |
667859 |
| 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 |
068600-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8766 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62198637 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 242
(C242R)
|
| 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: C242R
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: C242R
| 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: C242R
PolyPhen 2
Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: C242R
| 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: C242R
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: C242R
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
T |
G |
12: 71,001,430 (GRCm39) |
|
probably null |
Het |
| Amz1 |
A |
G |
5: 140,733,921 (GRCm39) |
N166D |
probably benign |
Het |
| Armh4 |
T |
A |
14: 50,011,497 (GRCm39) |
N70I |
probably damaging |
Het |
| Asah2 |
A |
G |
19: 32,035,280 (GRCm39) |
F15S |
possibly damaging |
Het |
| Axin2 |
A |
G |
11: 108,814,657 (GRCm39) |
M182V |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,002,881 (GRCm39) |
L326P |
probably damaging |
Het |
| Ccdc169 |
T |
C |
3: 55,058,245 (GRCm39) |
|
probably null |
Het |
| Cct8 |
A |
T |
16: 87,285,756 (GRCm39) |
V234D |
probably damaging |
Het |
| Cdh19 |
T |
C |
1: 110,817,844 (GRCm39) |
R633G |
probably benign |
Het |
| Clca3a1 |
A |
T |
3: 144,714,939 (GRCm39) |
|
probably benign |
Het |
| Crat |
G |
A |
2: 30,297,075 (GRCm39) |
P293S |
probably benign |
Het |
| Crybg3 |
G |
A |
16: 59,375,696 (GRCm39) |
R139C |
probably benign |
Het |
| Ctbs |
A |
G |
3: 146,165,588 (GRCm39) |
N301S |
possibly damaging |
Het |
| Cyp4x1 |
T |
C |
4: 114,967,262 (GRCm39) |
H438R |
probably damaging |
Het |
| Dglucy |
C |
A |
12: 100,837,706 (GRCm39) |
H616Q |
probably benign |
Het |
| Dync1i1 |
T |
A |
6: 5,767,142 (GRCm39) |
L74Q |
possibly damaging |
Het |
| Epn1 |
T |
C |
7: 5,095,860 (GRCm39) |
S167P |
possibly damaging |
Het |
| Fbxw28 |
T |
C |
9: 109,155,749 (GRCm39) |
E341G |
probably benign |
Het |
| Gk2 |
T |
A |
5: 97,604,110 (GRCm39) |
M243L |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,300,724 (GRCm39) |
E4D |
probably benign |
Het |
| Hsd17b13 |
T |
C |
5: 104,125,009 (GRCm39) |
K58R |
probably benign |
Het |
| Ighd5-7 |
G |
A |
12: 113,428,148 (GRCm39) |
Q9* |
probably null |
Het |
| Izumo1 |
G |
A |
7: 45,276,496 (GRCm39) |
S353N |
probably benign |
Het |
| Klhl31 |
T |
C |
9: 77,557,445 (GRCm39) |
S54P |
possibly damaging |
Het |
| Lonp2 |
T |
C |
8: 87,363,198 (GRCm39) |
M272T |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,603,250 (GRCm39) |
C682* |
probably null |
Het |
| Magi2 |
A |
G |
5: 20,400,123 (GRCm39) |
K52E |
probably benign |
Het |
| Nab2 |
C |
T |
10: 127,502,417 (GRCm39) |
|
probably benign |
Het |
| Ncapg2 |
T |
A |
12: 116,390,356 (GRCm39) |
V435D |
probably damaging |
Het |
| Nid2 |
A |
G |
14: 19,802,340 (GRCm39) |
D87G |
probably benign |
Het |
| Or10a3 |
A |
G |
7: 108,480,453 (GRCm39) |
M120T |
probably benign |
Het |
| Or9a7 |
T |
C |
6: 40,521,485 (GRCm39) |
M143V |
probably benign |
Het |
| Pamr1 |
T |
C |
2: 102,380,538 (GRCm39) |
M1T |
probably null |
Het |
| Pcif1 |
T |
A |
2: 164,727,346 (GRCm39) |
V106E |
probably benign |
Het |
| Pitx2 |
T |
A |
3: 129,012,223 (GRCm39) |
F218I |
probably damaging |
Het |
| Ppip5k1 |
G |
T |
2: 121,166,919 (GRCm39) |
Y877* |
probably null |
Het |
| Prkch |
A |
G |
12: 73,749,312 (GRCm39) |
N354S |
probably benign |
Het |
| Psen2 |
T |
A |
1: 180,073,201 (GRCm39) |
D40V |
probably benign |
Het |
| Rfx7 |
T |
A |
9: 72,524,021 (GRCm39) |
S404T |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,683,855 (GRCm39) |
T3070S |
probably damaging |
Het |
| Slc24a4 |
A |
G |
12: 102,196,711 (GRCm39) |
D263G |
probably benign |
Het |
| Tox |
T |
C |
4: 6,823,047 (GRCm39) |
E90G |
probably damaging |
Het |
| Unc13b |
C |
T |
4: 43,174,722 (GRCm39) |
S1850L |
unknown |
Het |
| Vmn1r5 |
T |
A |
6: 56,963,100 (GRCm39) |
D258E |
possibly damaging |
Het |
| Vmn2r84 |
C |
T |
10: 130,222,241 (GRCm39) |
V660M |
probably damaging |
Het |
| Yju2b |
C |
T |
8: 84,988,423 (GRCm39) |
R68H |
probably damaging |
Het |
| Zfp592 |
A |
T |
7: 80,674,353 (GRCm39) |
H439L |
probably benign |
Het |
| Zfp775 |
A |
T |
6: 48,597,113 (GRCm39) |
H329L |
probably damaging |
Het |
| Zswim5 |
T |
C |
4: 116,816,004 (GRCm39) |
L364P |
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 |
|
|
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 |
|
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'- TGAAAGATGAACCATTTGGCTG -3'
(R):5'- GATGGTCACAGGTTCCATAATGGG -3'
Sequencing Primer
(F):5'- CTGAATAGCTGCAAGCAGA -3'
(R):5'- CCATAATGGGACTTGGCTTGACATTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation