Incidental Mutation 'R0448:Pard3b'
| ID |
39421 |
| 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 |
038648-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0448 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
61677983-62681443 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 62205628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 474
(L474P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000046673
AA Change: L474P
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040439
Gene: ENSMUSG00000052062
AA Change: L474P
| 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: L474P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000074837
Gene: ENSMUSG00000052062
AA Change: L474P
| 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: L474P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000092510
Gene: ENSMUSG00000052062
AA Change: L474P
| 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
|
| Meta Mutation Damage Score |
0.4187 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 93.1%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
G |
A |
16: 20,218,687 (GRCm39) |
R232C |
probably damaging |
Het |
| Adam9 |
A |
G |
8: 25,454,926 (GRCm39) |
S732P |
probably damaging |
Het |
| Add2 |
G |
A |
6: 86,069,901 (GRCm39) |
V140I |
probably benign |
Het |
| Ahi1 |
G |
A |
10: 20,847,974 (GRCm39) |
G461S |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,909,991 (GRCm39) |
S643C |
probably damaging |
Het |
| Arhgef7 |
A |
G |
8: 11,869,659 (GRCm39) |
T432A |
possibly damaging |
Het |
| Arsi |
T |
C |
18: 61,050,374 (GRCm39) |
I419T |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,399,047 (GRCm39) |
P1515L |
possibly damaging |
Het |
| Brcc3 |
T |
A |
X: 74,493,647 (GRCm39) |
L222* |
probably null |
Het |
| Brpf3 |
A |
T |
17: 29,025,010 (GRCm39) |
T28S |
probably benign |
Het |
| Cdc20b |
T |
A |
13: 113,215,191 (GRCm39) |
V253E |
probably damaging |
Het |
| Cnot6l |
T |
A |
5: 96,227,905 (GRCm39) |
S443C |
probably benign |
Het |
| Copg1 |
G |
A |
6: 87,881,908 (GRCm39) |
A587T |
probably benign |
Het |
| Crebrf |
A |
G |
17: 26,962,076 (GRCm39) |
D391G |
probably benign |
Het |
| Crocc |
A |
T |
4: 140,769,502 (GRCm39) |
D283E |
probably damaging |
Het |
| Cryga |
T |
C |
1: 65,142,318 (GRCm39) |
N25S |
probably benign |
Het |
| Csnk1g1 |
T |
C |
9: 65,888,230 (GRCm39) |
F90L |
possibly damaging |
Het |
| Cyp2j6 |
A |
G |
4: 96,433,965 (GRCm39) |
V115A |
probably benign |
Het |
| Cyp3a11 |
T |
C |
5: 145,799,204 (GRCm39) |
I328V |
probably benign |
Het |
| Dchs1 |
C |
A |
7: 105,415,134 (GRCm39) |
E683D |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,809,539 (GRCm39) |
|
probably benign |
Het |
| Dqx1 |
T |
C |
6: 83,037,326 (GRCm39) |
S330P |
probably damaging |
Het |
| Epg5 |
A |
G |
18: 78,066,580 (GRCm39) |
Y2160C |
probably damaging |
Het |
| Ercc5 |
T |
C |
1: 44,213,100 (GRCm39) |
L742P |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,839,660 (GRCm39) |
I491T |
probably benign |
Het |
| Flt1 |
C |
T |
5: 147,503,204 (GRCm39) |
|
probably benign |
Het |
| Grip2 |
A |
G |
6: 91,756,194 (GRCm39) |
S498P |
probably damaging |
Het |
| H2-T22 |
A |
G |
17: 36,353,278 (GRCm39) |
L14P |
possibly damaging |
Het |
| Hephl1 |
C |
T |
9: 14,988,222 (GRCm39) |
G629S |
probably damaging |
Het |
| Hsdl2 |
T |
A |
4: 59,606,523 (GRCm39) |
M162K |
unknown |
Het |
| Kcnh8 |
C |
A |
17: 53,284,648 (GRCm39) |
|
probably null |
Het |
| Krt76 |
T |
C |
15: 101,799,082 (GRCm39) |
Q201R |
probably damaging |
Het |
| Lrpprc |
A |
T |
17: 85,078,322 (GRCm39) |
Y319N |
probably benign |
Het |
| Lrrk2 |
T |
G |
15: 91,593,508 (GRCm39) |
I489R |
probably damaging |
Het |
| Mboat1 |
G |
T |
13: 30,386,393 (GRCm39) |
D136Y |
probably damaging |
Het |
| Mcmdc2 |
T |
C |
1: 10,010,767 (GRCm39) |
*682Q |
probably null |
Het |
| Msx2 |
C |
A |
13: 53,622,431 (GRCm39) |
R193L |
probably damaging |
Het |
| Nfatc4 |
T |
G |
14: 56,069,111 (GRCm39) |
D625E |
possibly damaging |
Het |
| Nup153 |
T |
C |
13: 46,870,657 (GRCm39) |
E86G |
probably benign |
Het |
| Or2g7 |
G |
T |
17: 38,378,563 (GRCm39) |
R167L |
probably benign |
Het |
| Or4k45 |
T |
A |
2: 111,395,559 (GRCm39) |
I77F |
probably benign |
Het |
| Pate11 |
T |
A |
9: 36,388,412 (GRCm39) |
M79K |
probably benign |
Het |
| Pggt1b |
A |
T |
18: 46,396,039 (GRCm39) |
|
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,224,688 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
A |
G |
7: 127,073,898 (GRCm39) |
|
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,415,869 (GRCm39) |
|
probably benign |
Het |
| Rufy2 |
G |
A |
10: 62,840,515 (GRCm39) |
D429N |
probably benign |
Het |
| S1pr5 |
T |
A |
9: 21,155,503 (GRCm39) |
T308S |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,354 (GRCm39) |
S93P |
probably benign |
Het |
| Serpinb1b |
T |
G |
13: 33,273,675 (GRCm39) |
H123Q |
probably benign |
Het |
| Sftpc |
C |
T |
14: 70,760,120 (GRCm39) |
V46I |
probably benign |
Het |
| Skint8 |
T |
A |
4: 111,794,087 (GRCm39) |
V159D |
probably damaging |
Het |
| Slc25a11 |
T |
C |
11: 70,536,405 (GRCm39) |
N134S |
probably benign |
Het |
| Slc25a24 |
T |
C |
3: 109,064,332 (GRCm39) |
|
probably benign |
Het |
| Sorl1 |
C |
G |
9: 41,915,384 (GRCm39) |
V1282L |
probably damaging |
Het |
| Sptan1 |
T |
A |
2: 29,916,822 (GRCm39) |
I2170N |
probably damaging |
Het |
| Syne4 |
A |
G |
7: 30,014,345 (GRCm39) |
|
probably benign |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tg |
C |
A |
15: 66,636,291 (GRCm39) |
P626Q |
probably damaging |
Het |
| Thoc6 |
T |
A |
17: 23,888,550 (GRCm39) |
D196V |
probably damaging |
Het |
| Tpi1 |
A |
G |
6: 124,791,066 (GRCm39) |
F57S |
probably damaging |
Het |
| Tril |
A |
G |
6: 53,794,793 (GRCm39) |
*810Q |
probably null |
Het |
| Trrap |
T |
A |
5: 144,776,377 (GRCm39) |
V2972D |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,591,624 (GRCm39) |
V12688E |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,551,283 (GRCm39) |
M31370V |
probably damaging |
Het |
| Txndc11 |
A |
G |
16: 10,909,625 (GRCm39) |
F307S |
probably damaging |
Het |
| Vmn1r40 |
C |
T |
6: 89,691,642 (GRCm39) |
S153L |
probably benign |
Het |
| Vmn2r95 |
A |
G |
17: 18,672,005 (GRCm39) |
T581A |
possibly damaging |
Het |
| Wdtc1 |
A |
G |
4: 133,024,811 (GRCm39) |
F462S |
probably damaging |
Het |
| Zfp101 |
A |
G |
17: 33,601,295 (GRCm39) |
S154P |
possibly damaging |
Het |
| Zmym6 |
A |
G |
4: 127,002,487 (GRCm39) |
N481D |
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 |
|
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 |
|
| Predicted Primers |
|
| Posted On |
2013-05-23 |
Incidental Mutation