Incidental Mutation 'R8833:Pard3b'
| ID |
673955 |
| 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 |
068661-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8833 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 62384158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 841
(E841G)
|
| 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: E779G
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: E779G
| 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: E841G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: E841G
| 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: E841G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: E841G
| 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: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c6 |
T |
A |
13: 4,496,377 (GRCm39) |
D132E |
possibly damaging |
Het |
| Armh4 |
C |
T |
14: 50,011,318 (GRCm39) |
V130I |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,112,986 (GRCm39) |
E844G |
probably damaging |
Het |
| Bbx |
T |
A |
16: 50,045,629 (GRCm39) |
M311L |
probably benign |
Het |
| Bzw2 |
A |
T |
12: 36,169,069 (GRCm39) |
M153K |
probably benign |
Het |
| C1qtnf6 |
G |
T |
15: 78,409,574 (GRCm39) |
T91K |
probably benign |
Het |
| Cdh4 |
A |
G |
2: 179,535,828 (GRCm39) |
D793G |
possibly damaging |
Het |
| Ces4a |
A |
G |
8: 105,858,614 (GRCm39) |
I11V |
probably benign |
Het |
| Cpne9 |
T |
C |
6: 113,281,473 (GRCm39) |
L518P |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,625,519 (GRCm39) |
|
probably null |
Het |
| Fam135b |
T |
C |
15: 71,334,783 (GRCm39) |
N804D |
probably benign |
Het |
| Frem3 |
G |
A |
8: 81,339,401 (GRCm39) |
D565N |
probably benign |
Het |
| Fscb |
T |
A |
12: 64,519,997 (GRCm39) |
T490S |
unknown |
Het |
| Fuca1 |
A |
G |
4: 135,648,206 (GRCm39) |
D31G |
probably damaging |
Het |
| Gbp8 |
G |
T |
5: 105,166,668 (GRCm39) |
N220K |
possibly damaging |
Het |
| Gfra2 |
T |
C |
14: 71,163,337 (GRCm39) |
F207L |
probably damaging |
Het |
| Grap2 |
A |
G |
15: 80,522,684 (GRCm39) |
N70S |
probably benign |
Het |
| Ifna13 |
C |
A |
4: 88,562,157 (GRCm39) |
E156* |
probably null |
Het |
| Jmjd1c |
G |
A |
10: 67,054,162 (GRCm39) |
R22H |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,365,134 (GRCm39) |
V3209A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,412,105 (GRCm39) |
T1684A |
unknown |
Het |
| Naip5 |
T |
A |
13: 100,359,442 (GRCm39) |
E598V |
probably damaging |
Het |
| Niban1 |
T |
A |
1: 151,520,681 (GRCm39) |
V125E |
probably damaging |
Het |
| Notch1 |
G |
A |
2: 26,371,615 (GRCm39) |
T278I |
probably damaging |
Het |
| Or4d10c |
A |
G |
19: 12,065,643 (GRCm39) |
V171A |
possibly damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,823 (GRCm39) |
C169* |
probably null |
Het |
| Or52z13 |
T |
G |
7: 103,247,444 (GRCm39) |
F307C |
possibly damaging |
Het |
| Or5k14 |
A |
T |
16: 58,692,959 (GRCm39) |
Y185N |
probably damaging |
Het |
| Orm1 |
A |
T |
4: 63,262,938 (GRCm39) |
E35V |
probably damaging |
Het |
| Pak1 |
T |
A |
7: 97,503,839 (GRCm39) |
I58N |
possibly damaging |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,468 (GRCm39) |
R154I |
probably benign |
Het |
| Pdpr |
G |
A |
8: 111,852,312 (GRCm39) |
V560I |
probably damaging |
Het |
| Pkdcc |
T |
C |
17: 83,531,355 (GRCm39) |
F455L |
probably damaging |
Het |
| Potefam3c |
A |
T |
8: 69,881,982 (GRCm39) |
D331E |
probably benign |
Het |
| Pus7l |
A |
T |
15: 94,438,143 (GRCm39) |
F234Y |
probably damaging |
Het |
| Rab3gap2 |
T |
A |
1: 184,990,722 (GRCm39) |
L632Q |
probably damaging |
Het |
| Rarb |
T |
A |
14: 16,819,015 (GRCm38) |
|
probably benign |
Het |
| Ro60 |
T |
A |
1: 143,641,517 (GRCm39) |
K315* |
probably null |
Het |
| Rom1 |
A |
T |
19: 8,905,471 (GRCm39) |
H236Q |
possibly damaging |
Het |
| Secisbp2 |
T |
C |
13: 51,819,352 (GRCm39) |
S311P |
probably benign |
Het |
| Slc26a1 |
T |
C |
5: 108,820,182 (GRCm39) |
D355G |
probably benign |
Het |
| Slc28a3 |
C |
T |
13: 58,707,077 (GRCm39) |
A574T |
probably damaging |
Het |
| Sox11 |
A |
G |
12: 27,392,313 (GRCm39) |
V32A |
possibly damaging |
Het |
| Spata17 |
T |
C |
1: 186,915,436 (GRCm39) |
Y107C |
probably damaging |
Het |
| Speer1a |
C |
A |
5: 11,394,205 (GRCm39) |
Y104* |
probably null |
Het |
| Stxbp5l |
T |
C |
16: 37,024,814 (GRCm39) |
T595A |
probably benign |
Het |
| Syt11 |
T |
C |
3: 88,655,149 (GRCm39) |
D78G |
probably damaging |
Het |
| Tatdn2 |
T |
G |
6: 113,684,348 (GRCm39) |
I674S |
probably damaging |
Het |
| Tex14 |
T |
A |
11: 87,383,878 (GRCm39) |
S189R |
probably benign |
Het |
| Tln2 |
C |
A |
9: 67,128,693 (GRCm39) |
E1465D |
possibly damaging |
Het |
| Tor3a |
T |
C |
1: 156,483,373 (GRCm39) |
T350A |
probably benign |
Het |
| Ttr |
T |
G |
18: 20,799,550 (GRCm39) |
V36G |
probably damaging |
Het |
| Vmn1r129 |
A |
T |
7: 21,095,205 (GRCm39) |
H4Q |
probably null |
Het |
| Vmn1r32 |
A |
G |
6: 66,530,623 (GRCm39) |
M51T |
possibly damaging |
Het |
| Zfp141 |
T |
C |
7: 42,125,687 (GRCm39) |
T262A |
possibly damaging |
Het |
| Zfp980 |
T |
A |
4: 145,427,596 (GRCm39) |
N108K |
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 |
|
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'- AAGTAGCCGTGTGGTTCAG -3'
(R):5'- TACACAATGGCGTGGTTTAGC -3'
Sequencing Primer
(F):5'- TATACTAGTGGTAAGTGCCCCTGAC -3'
(R):5'- TGGTTTAGCTAGGAGAAACAATGCC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation