Incidental Mutation 'R9542:Pard3b'
| ID |
719906 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9542 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 62250786 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 572
(R572*)
|
| 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 null
Transcript: ENSMUST00000046673
AA Change: R510*
|
| SMART Domains |
Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: R510*
| 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 null
Transcript: ENSMUST00000075374
AA Change: R572*
|
| SMART Domains |
Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: R572*
| 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 null
Transcript: ENSMUST00000094906
AA Change: R572*
|
| SMART Domains |
Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: R572*
| 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: 99.3%
- 20x: 97.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
T |
C |
1: 155,443,356 (GRCm39) |
S105P |
probably benign |
Het |
| Acot12 |
G |
A |
13: 91,931,110 (GRCm39) |
V453M |
probably damaging |
Het |
| Actr2 |
C |
T |
11: 20,044,350 (GRCm39) |
M85I |
probably benign |
Het |
| Anxa9 |
T |
C |
3: 95,210,379 (GRCm39) |
D62G |
probably benign |
Het |
| Arnt |
C |
T |
3: 95,397,954 (GRCm39) |
A599V |
probably benign |
Het |
| Ash1l |
A |
G |
3: 88,950,566 (GRCm39) |
E2153G |
probably damaging |
Het |
| Asic5 |
A |
T |
3: 81,911,850 (GRCm39) |
T149S |
probably benign |
Het |
| Atcay |
G |
A |
10: 81,043,686 (GRCm39) |
T353I |
unknown |
Het |
| Aven |
T |
C |
2: 112,455,517 (GRCm39) |
F143L |
probably damaging |
Het |
| BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
| BC024139 |
T |
A |
15: 76,009,715 (GRCm39) |
L149F |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,532,037 (GRCm39) |
Y228C |
probably damaging |
Het |
| Cacna1d |
A |
G |
14: 29,845,316 (GRCm39) |
F640L |
probably benign |
Het |
| Ccdc187 |
T |
C |
2: 26,145,930 (GRCm39) |
R1220G |
possibly damaging |
Het |
| Cdc42bpb |
G |
A |
12: 111,268,508 (GRCm39) |
Q1231* |
probably null |
Het |
| Cdh20 |
T |
A |
1: 104,875,067 (GRCm39) |
V283E |
probably damaging |
Het |
| Cep63 |
T |
C |
9: 102,484,533 (GRCm39) |
I241V |
probably benign |
Het |
| Dis3 |
A |
G |
14: 99,316,975 (GRCm39) |
V787A |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,864,775 (GRCm39) |
F727S |
probably damaging |
Het |
| Eif5b |
G |
T |
1: 38,057,131 (GRCm39) |
E63* |
probably null |
Het |
| Fanca |
A |
G |
8: 124,023,078 (GRCm39) |
V553A |
probably damaging |
Het |
| Flacc1 |
C |
T |
1: 58,717,504 (GRCm39) |
A136T |
probably benign |
Het |
| Gm37240 |
A |
C |
3: 84,417,196 (GRCm39) |
H174Q |
probably benign |
Het |
| Kcnc4 |
C |
T |
3: 107,365,571 (GRCm39) |
W212* |
probably null |
Het |
| Myh2 |
G |
A |
11: 67,072,002 (GRCm39) |
E577K |
possibly damaging |
Het |
| Ncoa1 |
C |
T |
12: 4,325,178 (GRCm39) |
V967I |
possibly damaging |
Het |
| Nmur2 |
T |
C |
11: 55,931,649 (GRCm39) |
T21A |
probably damaging |
Het |
| Nrde2 |
A |
G |
12: 100,110,426 (GRCm39) |
C197R |
probably damaging |
Het |
| Or2m12 |
A |
T |
16: 19,104,943 (GRCm39) |
D183E |
probably benign |
Het |
| Or2o1 |
C |
A |
11: 49,051,073 (GRCm39) |
C77* |
probably null |
Het |
| Or52ad1 |
T |
C |
7: 102,995,569 (GRCm39) |
I189V |
probably benign |
Het |
| Or8h7 |
G |
T |
2: 86,720,813 (GRCm39) |
H235Q |
probably benign |
Het |
| Pdcd6ip |
T |
C |
9: 113,520,589 (GRCm39) |
S132G |
probably damaging |
Het |
| Pdzrn3 |
A |
T |
6: 101,149,235 (GRCm39) |
F364L |
probably benign |
Het |
| Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
| Pgr |
G |
T |
9: 8,901,532 (GRCm39) |
C355F |
possibly damaging |
Het |
| Pkhd1 |
T |
G |
1: 20,188,004 (GRCm39) |
S3435R |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,410,284 (GRCm39) |
D2597G |
probably benign |
Het |
| Pramel30 |
T |
C |
4: 144,057,095 (GRCm39) |
Y93H |
possibly damaging |
Het |
| Prrc2c |
T |
C |
1: 162,508,359 (GRCm39) |
E2410G |
possibly damaging |
Het |
| Rpap2 |
C |
G |
5: 107,768,180 (GRCm39) |
S339R |
probably benign |
Het |
| Rrp36 |
G |
C |
17: 46,983,492 (GRCm39) |
R69G |
possibly damaging |
Het |
| Rrp8 |
T |
C |
7: 105,382,606 (GRCm39) |
T449A |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,366,860 (GRCm39) |
D54G |
probably damaging |
Het |
| Serinc2 |
C |
T |
4: 130,152,516 (GRCm39) |
W228* |
probably null |
Het |
| Serpinb9g |
A |
G |
13: 33,679,141 (GRCm39) |
K337R |
probably benign |
Het |
| Slc28a2b |
A |
T |
2: 122,324,822 (GRCm39) |
K131N |
probably benign |
Het |
| Spata31 |
A |
T |
13: 65,070,077 (GRCm39) |
I742F |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,399,426 (GRCm39) |
P2291L |
probably benign |
Het |
| Ss18l2 |
T |
A |
9: 121,541,666 (GRCm39) |
L61* |
probably null |
Het |
| Suco |
C |
T |
1: 161,661,668 (GRCm39) |
R921H |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,466,008 (GRCm39) |
I910N |
probably damaging |
Het |
| Tmem18 |
G |
A |
12: 30,638,557 (GRCm39) |
M106I |
|
Het |
| Tob1 |
T |
G |
11: 94,105,234 (GRCm39) |
S257A |
unknown |
Het |
| Trim67 |
G |
C |
8: 125,521,497 (GRCm39) |
K286N |
possibly damaging |
Het |
| Trmt112 |
A |
G |
19: 6,887,956 (GRCm39) |
N62S |
probably benign |
Het |
| Tsc2 |
C |
T |
17: 24,819,308 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Ube2j1 |
G |
T |
4: 33,040,793 (GRCm39) |
E100* |
probably null |
Het |
| Urgcp |
A |
T |
11: 5,667,517 (GRCm39) |
F317I |
possibly damaging |
Het |
| Vps9d1 |
A |
T |
8: 123,970,522 (GRCm39) |
D588E |
probably damaging |
Het |
| Wdr38 |
A |
T |
2: 38,890,210 (GRCm39) |
T115S |
probably damaging |
Het |
| Zfp119a |
G |
A |
17: 56,172,593 (GRCm39) |
Q417* |
probably null |
Het |
| Zfp687 |
C |
T |
3: 94,916,442 (GRCm39) |
C860Y |
probably damaging |
Het |
| Zmym4 |
T |
C |
4: 126,799,164 (GRCm39) |
N724S |
probably benign |
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 |
|
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 |
|
Z1176:Pard3b
|
UTSW |
1 |
62,278,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGCCTGCCTTGAAAATAGATC -3'
(R):5'- TACCTACCAGAGTCTGCCTG -3'
Sequencing Primer
(F):5'- GCCTGCCTTGAAAATAGATCATTGC -3'
(R):5'- TGCCTGTGGTATATATTCCCAAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation