Incidental Mutation 'R5381:Palb2'
| ID |
424720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palb2
|
| Ensembl Gene |
ENSMUSG00000044702 |
| Gene Name |
partner and localizer of BRCA2 |
| Synonyms |
|
| MMRRC Submission |
042956-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5381 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
121706485-121732203 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 121727636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 78
(T78K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102076
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033156]
[ENSMUST00000063587]
[ENSMUST00000098068]
[ENSMUST00000106468]
[ENSMUST00000106469]
[ENSMUST00000142952]
[ENSMUST00000131657]
[ENSMUST00000176193]
|
| AlphaFold |
Q3U0P1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033156
|
| SMART Domains |
Protein: ENSMUSP00000033156
Gene: ENSMUSG00000030868
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hexapep
|
84 |
118 |
1.3e-6 |
PFAM |
|
Pfam:Hexapep
|
100 |
130 |
7.5e-7 |
PFAM |
|
Pfam:Hexapep
|
107 |
142 |
7.7e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063587
|
| SMART Domains |
Protein: ENSMUSP00000063514
Gene: ENSMUSG00000044702
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
27 |
N/A |
INTRINSIC |
|
PDB:3EU7|A
|
36 |
383 |
N/A |
PDB |
|
SCOP:d2bbkh_
|
231 |
381 |
4e-8 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098068
AA Change: T78K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: T78K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
|
Pfam:PALB2_WD40
|
755 |
1102 |
2.4e-183 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106468
AA Change: T78K
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: T78K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
482 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
|
PDB:3EU7|A
|
753 |
984 |
1e-131 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106469
AA Change: T78K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
AA Change: T78K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
196 |
N/A |
INTRINSIC |
|
PDB:3EU7|A
|
390 |
740 |
N/A |
PDB |
|
SCOP:d2bbkh_
|
588 |
738 |
3e-8 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130149
|
| SMART Domains |
Protein: ENSMUSP00000121994
Gene: ENSMUSG00000044702
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
9 |
46 |
N/A |
INTRINSIC |
|
low complexity region
|
415 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
446 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
469 |
482 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162843
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142952
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131657
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176193
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (74/74) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the stable intranuclear localization and accumulation of BRCA2. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality with impaired inner cell mass proliferation, impaired gastrulation, absence of the amnion, somites and tail bud, and general improper organogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
G |
T |
11: 65,044,137 (GRCm39) |
S19* |
probably null |
Het |
| 4930432E11Rik |
A |
T |
7: 29,262,393 (GRCm39) |
|
noncoding transcript |
Het |
| Acvr1c |
T |
C |
2: 58,177,747 (GRCm39) |
T241A |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,804,284 (GRCm39) |
T900A |
probably benign |
Het |
| Anp32a |
A |
C |
9: 62,279,459 (GRCm39) |
E107A |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,229,306 (GRCm39) |
I623T |
probably damaging |
Het |
| Camsap3 |
T |
A |
8: 3,653,812 (GRCm39) |
I483N |
probably damaging |
Het |
| Card9 |
G |
A |
2: 26,248,895 (GRCm39) |
L85F |
probably damaging |
Het |
| Cbfa2t2 |
T |
G |
2: 154,365,849 (GRCm39) |
V353G |
probably damaging |
Het |
| Ccdc166 |
A |
T |
15: 75,852,701 (GRCm39) |
L422* |
probably null |
Het |
| Ccdc198 |
T |
C |
14: 49,470,364 (GRCm39) |
D185G |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,820,270 (GRCm39) |
N416Y |
probably damaging |
Het |
| Celsr2 |
A |
T |
3: 108,310,073 (GRCm39) |
D1552E |
probably damaging |
Het |
| Ces1b |
A |
T |
8: 93,791,647 (GRCm39) |
N317K |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,703,334 (GRCm39) |
R2471G |
unknown |
Het |
| Crocc |
C |
T |
4: 140,756,622 (GRCm39) |
R1165H |
possibly damaging |
Het |
| Csmd3 |
T |
A |
15: 47,604,611 (GRCm39) |
Y1955F |
probably benign |
Het |
| Ctbp1 |
A |
T |
5: 33,407,034 (GRCm39) |
D232E |
probably benign |
Het |
| Cuedc1 |
T |
A |
11: 88,078,812 (GRCm39) |
|
probably null |
Het |
| Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
| Dusp6 |
G |
A |
10: 99,102,129 (GRCm39) |
V226I |
possibly damaging |
Het |
| Gpr152 |
A |
G |
19: 4,192,516 (GRCm39) |
E19G |
probably damaging |
Het |
| Ighv16-1 |
T |
C |
12: 114,032,593 (GRCm39) |
T70A |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Il12b |
C |
A |
11: 44,298,699 (GRCm39) |
D51E |
possibly damaging |
Het |
| Il9r |
T |
G |
11: 32,140,715 (GRCm39) |
D435A |
probably benign |
Het |
| Jakmip2 |
T |
C |
18: 43,715,025 (GRCm39) |
D167G |
probably damaging |
Het |
| Klrd1 |
A |
G |
6: 129,572,397 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lactb |
A |
G |
9: 66,863,297 (GRCm39) |
L439P |
probably damaging |
Het |
| Laptm5 |
T |
C |
4: 130,660,969 (GRCm39) |
|
probably benign |
Het |
| Lgals1 |
A |
G |
15: 78,814,223 (GRCm39) |
D96G |
probably benign |
Het |
| Lrp8 |
A |
T |
4: 107,726,307 (GRCm39) |
H871L |
probably damaging |
Het |
| Mfap4 |
A |
T |
11: 61,378,756 (GRCm39) |
I235F |
probably benign |
Het |
| Muc6 |
G |
A |
7: 141,217,836 (GRCm39) |
T2279I |
possibly damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,449,172 (GRCm39) |
Y91* |
probably null |
Het |
| Osbp2 |
A |
G |
11: 3,655,593 (GRCm39) |
Y383H |
probably benign |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Panx2 |
G |
T |
15: 88,944,433 (GRCm39) |
V53L |
probably damaging |
Het |
| Pip4p1 |
T |
C |
14: 51,166,495 (GRCm39) |
E161G |
probably benign |
Het |
| Pitx1 |
T |
C |
13: 55,973,892 (GRCm39) |
Y313C |
probably damaging |
Het |
| Pjvk |
A |
G |
2: 76,481,904 (GRCm39) |
|
probably null |
Het |
| Pnldc1 |
T |
G |
17: 13,109,283 (GRCm39) |
K439T |
probably benign |
Het |
| Ppp4r4 |
A |
C |
12: 103,559,357 (GRCm39) |
T513P |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,600 (GRCm39) |
Q389L |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,330,204 (GRCm39) |
|
probably benign |
Het |
| Prkch |
C |
A |
12: 73,738,366 (GRCm39) |
R158S |
probably damaging |
Het |
| Ptpn7 |
A |
T |
1: 135,070,906 (GRCm39) |
M332L |
probably damaging |
Het |
| Rad51c |
A |
T |
11: 87,288,459 (GRCm39) |
D241E |
probably benign |
Het |
| Rara |
T |
G |
11: 98,862,410 (GRCm39) |
I270M |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,571,544 (GRCm39) |
D4898V |
probably damaging |
Het |
| Sec31b |
C |
T |
19: 44,522,810 (GRCm39) |
G218S |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,149,382 (GRCm39) |
L736Q |
probably damaging |
Het |
| Slco2a1 |
A |
T |
9: 102,945,213 (GRCm39) |
D196V |
probably damaging |
Het |
| Sp3 |
C |
A |
2: 72,800,910 (GRCm39) |
A368S |
probably benign |
Het |
| Stk24 |
A |
T |
14: 121,531,645 (GRCm39) |
L337Q |
possibly damaging |
Het |
| Tbc1d13 |
A |
G |
2: 30,027,379 (GRCm39) |
T96A |
probably benign |
Het |
| Tm2d3 |
G |
A |
7: 65,351,420 (GRCm39) |
G225S |
probably damaging |
Het |
| Urb2 |
T |
C |
8: 124,756,651 (GRCm39) |
V786A |
probably benign |
Het |
| Usp32 |
C |
T |
11: 84,949,953 (GRCm39) |
|
probably benign |
Het |
| Usp54 |
C |
T |
14: 20,636,144 (GRCm39) |
G300D |
probably damaging |
Het |
| Vmn1r124 |
T |
A |
7: 20,994,323 (GRCm39) |
N74Y |
probably damaging |
Het |
| Vmn1r77 |
T |
A |
7: 11,775,952 (GRCm39) |
C175S |
probably damaging |
Het |
| Vmn2r62 |
G |
T |
7: 42,437,219 (GRCm39) |
Q422K |
probably benign |
Het |
| Vmn2r76 |
A |
G |
7: 85,874,496 (GRCm39) |
F827S |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,177,275 (GRCm39) |
S106G |
possibly damaging |
Het |
| Zdhhc1 |
CGGGGG |
CGGGGGG |
8: 106,210,376 (GRCm39) |
|
probably null |
Het |
| Zic2 |
A |
G |
14: 122,713,227 (GRCm39) |
N47S |
probably damaging |
Het |
|
| Other mutations in Palb2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Palb2
|
APN |
7 |
121,720,271 (GRCm39) |
splice site |
probably benign |
|
|
IGL00232:Palb2
|
APN |
7 |
121,720,287 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02171:Palb2
|
APN |
7 |
121,706,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03030:Palb2
|
APN |
7 |
121,712,479 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03102:Palb2
|
APN |
7 |
121,723,722 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R0128:Palb2
|
UTSW |
7 |
121,727,389 (GRCm39) |
nonsense |
probably null |
|
|
R1192:Palb2
|
UTSW |
7 |
121,727,432 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1470:Palb2
|
UTSW |
7 |
121,706,747 (GRCm39) |
nonsense |
probably null |
|
|
R1470:Palb2
|
UTSW |
7 |
121,706,747 (GRCm39) |
nonsense |
probably null |
|
|
R1470:Palb2
|
UTSW |
7 |
121,706,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1470:Palb2
|
UTSW |
7 |
121,706,746 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1575:Palb2
|
UTSW |
7 |
121,710,061 (GRCm39) |
splice site |
probably null |
|
|
R1664:Palb2
|
UTSW |
7 |
121,723,615 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R1852:Palb2
|
UTSW |
7 |
121,713,537 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1984:Palb2
|
UTSW |
7 |
121,726,303 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2061:Palb2
|
UTSW |
7 |
121,723,748 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2121:Palb2
|
UTSW |
7 |
121,727,004 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2877:Palb2
|
UTSW |
7 |
121,713,652 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2878:Palb2
|
UTSW |
7 |
121,713,652 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3923:Palb2
|
UTSW |
7 |
121,716,583 (GRCm39) |
splice site |
probably null |
|
|
R4609:Palb2
|
UTSW |
7 |
121,723,946 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4629:Palb2
|
UTSW |
7 |
121,727,189 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4678:Palb2
|
UTSW |
7 |
121,726,589 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5111:Palb2
|
UTSW |
7 |
121,716,528 (GRCm39) |
nonsense |
probably null |
|
|
R5470:Palb2
|
UTSW |
7 |
121,713,574 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5793:Palb2
|
UTSW |
7 |
121,726,860 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6160:Palb2
|
UTSW |
7 |
121,727,643 (GRCm39) |
splice site |
probably null |
|
|
R6630:Palb2
|
UTSW |
7 |
121,723,752 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6783:Palb2
|
UTSW |
7 |
121,726,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6897:Palb2
|
UTSW |
7 |
121,726,270 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7040:Palb2
|
UTSW |
7 |
121,713,622 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7121:Palb2
|
UTSW |
7 |
121,724,057 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7438:Palb2
|
UTSW |
7 |
121,716,554 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7522:Palb2
|
UTSW |
7 |
121,712,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7583:Palb2
|
UTSW |
7 |
121,726,565 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7679:Palb2
|
UTSW |
7 |
121,727,237 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7769:Palb2
|
UTSW |
7 |
121,727,638 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7802:Palb2
|
UTSW |
7 |
121,710,119 (GRCm39) |
splice site |
probably null |
|
|
R8271:Palb2
|
UTSW |
7 |
121,724,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8428:Palb2
|
UTSW |
7 |
121,711,224 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8725:Palb2
|
UTSW |
7 |
121,710,884 (GRCm39) |
missense |
unknown |
|
|
R8927:Palb2
|
UTSW |
7 |
121,723,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8928:Palb2
|
UTSW |
7 |
121,723,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9509:Palb2
|
UTSW |
7 |
121,727,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9663:Palb2
|
UTSW |
7 |
121,726,304 (GRCm39) |
missense |
probably benign |
0.14 |
|
X0060:Palb2
|
UTSW |
7 |
121,713,701 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCTTTCTTGCCATCAGGG -3'
(R):5'- CAATTGGATTGCCAGTTTAATTGCC -3'
Sequencing Primer
(F):5'- GCTGCTGGTGCTATGCAAAAG -3'
(R):5'- GTGATGTTTTACCACAGAGCC -3'
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| Posted On |
2016-08-04 |
Incidental Mutation