Incidental Mutation 'R4683:Pard3b'
ID |
350096 |
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 |
041935-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4683 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 62255675 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 629
(Y629H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000092510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046673]
[ENSMUST00000075374]
[ENSMUST00000094906]
|
AlphaFold |
Q9CSB4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000046673
AA Change: Y567H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000040439 Gene: ENSMUSG00000052062 AA Change: Y567H
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: Y629H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000074837 Gene: ENSMUSG00000052062 AA Change: Y629H
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: Y629H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000092510 Gene: ENSMUSG00000052062 AA Change: Y629H
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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr3 |
T |
C |
1: 90,141,709 (GRCm39) |
V56A |
probably damaging |
Het |
Acyp1 |
A |
G |
12: 85,325,717 (GRCm39) |
|
probably benign |
Het |
Adgrb1 |
A |
T |
15: 74,459,963 (GRCm39) |
K532I |
probably damaging |
Het |
Ahrr |
T |
A |
13: 74,372,885 (GRCm39) |
|
silent |
Het |
Asz1 |
T |
C |
6: 18,055,541 (GRCm39) |
|
probably benign |
Het |
AW554918 |
T |
C |
18: 25,472,852 (GRCm39) |
Y219H |
probably benign |
Het |
Ccno |
C |
A |
13: 113,125,543 (GRCm39) |
|
probably null |
Het |
Cdh17 |
A |
T |
4: 11,817,036 (GRCm39) |
N816Y |
possibly damaging |
Het |
Clca4a |
C |
T |
3: 144,660,701 (GRCm39) |
V708I |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,701,179 (GRCm39) |
Y2579F |
unknown |
Het |
Col6a4 |
A |
G |
9: 105,957,329 (GRCm39) |
V165A |
probably benign |
Het |
Csf1r |
T |
A |
18: 61,257,983 (GRCm39) |
C651S |
probably damaging |
Het |
Cyp4f14 |
T |
C |
17: 33,126,985 (GRCm39) |
D315G |
probably null |
Het |
Def6 |
A |
G |
17: 28,436,609 (GRCm39) |
D91G |
probably damaging |
Het |
Dmxl1 |
T |
G |
18: 50,011,088 (GRCm39) |
S1082A |
probably damaging |
Het |
Dnah2 |
A |
T |
11: 69,349,768 (GRCm39) |
Y2392N |
probably damaging |
Het |
Dsg4 |
T |
C |
18: 20,594,466 (GRCm39) |
S532P |
probably benign |
Het |
Efr3a |
C |
A |
15: 65,691,650 (GRCm39) |
S126R |
probably damaging |
Het |
Gab1 |
A |
C |
8: 81,515,261 (GRCm39) |
H352Q |
probably benign |
Het |
Gm1110 |
A |
G |
9: 26,831,890 (GRCm39) |
M87T |
probably damaging |
Het |
Greb1 |
C |
T |
12: 16,761,774 (GRCm39) |
M535I |
possibly damaging |
Het |
Greb1l |
T |
A |
18: 10,529,563 (GRCm39) |
|
probably null |
Het |
Gucy2d |
T |
C |
7: 98,102,650 (GRCm39) |
C487R |
probably benign |
Het |
H1f7 |
A |
T |
15: 98,154,921 (GRCm39) |
I76N |
probably damaging |
Het |
Lrrc2 |
A |
T |
9: 110,791,614 (GRCm39) |
H122L |
possibly damaging |
Het |
Mrps22 |
A |
T |
9: 98,480,359 (GRCm39) |
|
probably null |
Het |
Mxd3 |
T |
C |
13: 55,473,613 (GRCm39) |
T202A |
probably benign |
Het |
Neb |
T |
C |
2: 52,134,074 (GRCm39) |
H3303R |
possibly damaging |
Het |
Nup133 |
G |
A |
8: 124,657,721 (GRCm39) |
R405* |
probably null |
Het |
Or13a19 |
T |
C |
7: 139,902,681 (GRCm39) |
L23P |
probably benign |
Het |
Or14j6 |
A |
G |
17: 38,215,039 (GRCm39) |
T201A |
probably benign |
Het |
Pcnx1 |
A |
G |
12: 82,033,446 (GRCm39) |
D1781G |
probably benign |
Het |
Pcsk5 |
A |
T |
19: 17,450,405 (GRCm39) |
C1148S |
probably damaging |
Het |
Pcsk9 |
A |
T |
4: 106,316,092 (GRCm39) |
I117N |
possibly damaging |
Het |
Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
Pfkfb2 |
T |
A |
1: 130,634,221 (GRCm39) |
|
probably null |
Het |
Pi4ka |
T |
C |
16: 17,114,901 (GRCm39) |
E1456G |
possibly damaging |
Het |
Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
Sh2b2 |
C |
T |
5: 136,260,574 (GRCm39) |
C214Y |
probably damaging |
Het |
Slc52a2 |
C |
A |
15: 76,424,433 (GRCm39) |
P224T |
probably damaging |
Het |
Slf2 |
C |
G |
19: 44,923,920 (GRCm39) |
R245G |
probably benign |
Het |
Sox5 |
T |
C |
6: 143,779,193 (GRCm39) |
S648G |
probably damaging |
Het |
Stk36 |
T |
A |
1: 74,673,344 (GRCm39) |
I1079N |
probably benign |
Het |
Stxbp3 |
T |
C |
3: 108,708,188 (GRCm39) |
D371G |
probably damaging |
Het |
Trnau1ap |
A |
T |
4: 132,049,063 (GRCm39) |
Y47N |
probably damaging |
Het |
Ubr5 |
C |
T |
15: 38,038,211 (GRCm39) |
R316H |
probably damaging |
Het |
Vmn1r230 |
C |
T |
17: 21,067,515 (GRCm39) |
R235C |
probably benign |
Het |
Wnt10a |
C |
T |
1: 74,842,296 (GRCm39) |
H93Y |
unknown |
Het |
Zfp1005 |
T |
A |
2: 150,108,390 (GRCm39) |
H50Q |
possibly damaging |
Het |
Zfp52 |
A |
G |
17: 21,781,769 (GRCm39) |
D539G |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACAAGGACCAGTCTTGCAC -3'
(R):5'- GCTCATGACTCTGAGTGACAAAG -3'
Sequencing Primer
(F):5'- AGGACCAGTCTTGCACTCAGC -3'
(R):5'- TGACTCTGAGTGACAAAGTCTACAC -3'
|
Posted On |
2015-10-08 |