Incidental Mutation 'IGL02232:Pard3b'
| ID |
285754 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Pard3b
|
| Ensembl Gene |
ENSMUSG00000052062 |
| Gene Name |
par-3 family cell polarity regulator beta |
| Synonyms |
PAR3L, PAR3B, 1810008K04Rik, 2010002N16Rik, PAR3beta, Als2cr19, 2810455B10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02232
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 62205541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 445
(T445I)
|
| 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: T445I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: T445I
| 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: T445I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: T445I
| 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: T445I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: T445I
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810030O07Rik |
A |
G |
X: 12,530,764 (GRCm39) |
V199A |
possibly damaging |
Het |
| Aco1 |
T |
C |
4: 40,175,996 (GRCm39) |
M210T |
probably damaging |
Het |
| Actr10 |
G |
A |
12: 70,990,289 (GRCm39) |
E114K |
probably benign |
Het |
| Adam6b |
T |
C |
12: 113,454,764 (GRCm39) |
M527T |
probably benign |
Het |
| Ahi1 |
C |
T |
10: 20,857,274 (GRCm39) |
T623M |
probably damaging |
Het |
| Aldh8a1 |
T |
C |
10: 21,271,545 (GRCm39) |
W424R |
probably damaging |
Het |
| Apeh |
A |
T |
9: 107,969,071 (GRCm39) |
S299T |
probably benign |
Het |
| Bbs5 |
A |
C |
2: 69,485,895 (GRCm39) |
I147L |
probably benign |
Het |
| Bmp2k |
T |
G |
5: 97,179,109 (GRCm39) |
|
probably benign |
Het |
| C2cd6 |
A |
G |
1: 59,101,651 (GRCm39) |
F336S |
probably damaging |
Het |
| Cd274 |
T |
A |
19: 29,359,938 (GRCm39) |
L248M |
probably damaging |
Het |
| Chsy3 |
T |
A |
18: 59,542,383 (GRCm39) |
M507K |
possibly damaging |
Het |
| Clip2 |
T |
C |
5: 134,531,984 (GRCm39) |
N572S |
probably damaging |
Het |
| Commd9 |
A |
G |
2: 101,731,324 (GRCm39) |
T170A |
probably benign |
Het |
| Cpt1c |
G |
A |
7: 44,609,580 (GRCm39) |
S674L |
probably damaging |
Het |
| Dhx33 |
C |
A |
11: 70,878,030 (GRCm39) |
R671L |
probably damaging |
Het |
| Dnah5 |
G |
A |
15: 28,299,386 (GRCm39) |
E1583K |
probably damaging |
Het |
| Eed |
G |
T |
7: 89,621,493 (GRCm39) |
N51K |
probably damaging |
Het |
| Efcab14 |
A |
G |
4: 115,617,261 (GRCm39) |
|
probably benign |
Het |
| Ephb2 |
A |
C |
4: 136,384,762 (GRCm39) |
M884R |
probably damaging |
Het |
| Foxn2 |
G |
T |
17: 88,770,479 (GRCm39) |
A109S |
probably benign |
Het |
| Fut1 |
A |
T |
7: 45,268,871 (GRCm39) |
D220V |
probably damaging |
Het |
| Gm6468 |
C |
T |
5: 95,429,066 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7964 |
A |
T |
7: 83,405,515 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9772 |
C |
T |
17: 22,226,031 (GRCm39) |
|
probably benign |
Het |
| Golph3 |
G |
T |
15: 12,349,578 (GRCm39) |
M199I |
probably benign |
Het |
| Itpr1 |
A |
G |
6: 108,394,884 (GRCm39) |
N1666D |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,944,922 (GRCm39) |
T548A |
unknown |
Het |
| Kif12 |
C |
T |
4: 63,084,732 (GRCm39) |
E529K |
probably benign |
Het |
| Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
| Lrrc52 |
T |
A |
1: 167,293,949 (GRCm39) |
N112I |
probably damaging |
Het |
| Msi1 |
T |
A |
5: 115,579,506 (GRCm39) |
|
probably null |
Het |
| Nasp |
T |
G |
4: 116,461,997 (GRCm39) |
E170A |
probably damaging |
Het |
| Necab2 |
T |
A |
8: 120,189,391 (GRCm39) |
V187E |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,929,804 (GRCm39) |
E5790G |
probably damaging |
Het |
| Or7e176 |
A |
T |
9: 20,171,511 (GRCm39) |
D125V |
probably damaging |
Het |
| Or9a7 |
A |
G |
6: 40,520,980 (GRCm39) |
L311P |
probably damaging |
Het |
| Pcdh10 |
A |
G |
3: 45,335,377 (GRCm39) |
I564V |
probably benign |
Het |
| Pcdhb22 |
T |
A |
18: 37,653,602 (GRCm39) |
L690Q |
probably damaging |
Het |
| Pemt |
T |
A |
11: 59,867,680 (GRCm39) |
T115S |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,913,669 (GRCm39) |
N226S |
possibly damaging |
Het |
| Ppp6r1 |
A |
G |
7: 4,636,341 (GRCm39) |
S750P |
probably damaging |
Het |
| Prtg |
T |
C |
9: 72,758,771 (GRCm39) |
V375A |
probably damaging |
Het |
| Psd3 |
A |
C |
8: 68,356,797 (GRCm39) |
M673R |
probably damaging |
Het |
| Ptprt |
T |
C |
2: 161,372,437 (GRCm39) |
I1392V |
probably damaging |
Het |
| Rlf |
G |
A |
4: 121,039,811 (GRCm39) |
T200I |
probably benign |
Het |
| Robo1 |
G |
A |
16: 72,768,872 (GRCm39) |
G479D |
possibly damaging |
Het |
| Rpe65 |
A |
G |
3: 159,309,988 (GRCm39) |
D87G |
possibly damaging |
Het |
| Sema3g |
T |
C |
14: 30,943,181 (GRCm39) |
V148A |
probably damaging |
Het |
| Sgms2 |
G |
A |
3: 131,116,833 (GRCm39) |
P341S |
probably benign |
Het |
| Skint7 |
A |
T |
4: 111,839,225 (GRCm39) |
Q173L |
possibly damaging |
Het |
| Slc2a9 |
G |
A |
5: 38,594,013 (GRCm39) |
A150V |
probably benign |
Het |
| Slc35c2 |
A |
G |
2: 165,124,801 (GRCm39) |
L58P |
probably damaging |
Het |
| Slc7a6 |
G |
A |
8: 106,923,206 (GRCm39) |
C495Y |
possibly damaging |
Het |
| Smurf1 |
G |
A |
5: 144,823,248 (GRCm39) |
P458L |
probably damaging |
Het |
| Spag1 |
C |
T |
15: 36,221,710 (GRCm39) |
T601I |
probably benign |
Het |
| Spink8 |
A |
T |
9: 109,649,665 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Spout1 |
A |
T |
2: 30,065,266 (GRCm39) |
Y284N |
probably damaging |
Het |
| Srrm1 |
A |
T |
4: 135,080,427 (GRCm39) |
M1K |
probably null |
Het |
| Stxbp5l |
A |
G |
16: 37,150,257 (GRCm39) |
L116P |
probably damaging |
Het |
| Tlr9 |
T |
C |
9: 106,102,136 (GRCm39) |
F476L |
probably damaging |
Het |
| Tmem41b |
A |
G |
7: 109,577,960 (GRCm39) |
V108A |
probably damaging |
Het |
| Tra2b |
A |
G |
16: 22,067,790 (GRCm39) |
|
probably benign |
Het |
| Trio |
G |
T |
15: 27,902,647 (GRCm39) |
H271Q |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,723,263 (GRCm39) |
|
probably benign |
Het |
| Usp51 |
A |
T |
X: 151,791,669 (GRCm39) |
H421L |
probably damaging |
Het |
| Vmn2r29 |
A |
T |
7: 7,244,810 (GRCm39) |
W355R |
probably damaging |
Het |
| Vpreb1a |
T |
C |
16: 16,686,603 (GRCm39) |
N96D |
possibly damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zp3r |
C |
A |
1: 130,524,404 (GRCm39) |
C213F |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation