Incidental Mutation 'R3923:Palb2'
| ID |
307041 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Palb2
|
| Ensembl Gene |
ENSMUSG00000044702 |
| Gene Name |
partner and localizer of BRCA2 |
| Synonyms |
|
| MMRRC Submission |
040820-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3923 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
121706485-121732203 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 121716583 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102077
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063587]
[ENSMUST00000098068]
[ENSMUST00000106468]
[ENSMUST00000106468]
[ENSMUST00000106469]
[ENSMUST00000131657]
[ENSMUST00000142952]
|
| AlphaFold |
Q3U0P1 |
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000098068
|
| SMART Domains |
Protein: ENSMUSP00000095675
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 |
|
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
|
Pfam:PALB2_WD40
|
755 |
1102 |
2.4e-183 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106468
|
| SMART Domains |
Protein: ENSMUSP00000102076
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 |
|
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
|
PDB:3EU7|A
|
753 |
984 |
1e-131 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106468
|
| SMART Domains |
Protein: ENSMUSP00000102076
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 |
|
low complexity region
|
543 |
559 |
N/A |
INTRINSIC |
|
PDB:3EU7|A
|
753 |
984 |
1e-131 |
PDB |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000106469
|
| SMART Domains |
Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
| 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 |
probably benign
Transcript: ENSMUST00000131657
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142952
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,180,514 (GRCm39) |
M528V |
possibly damaging |
Het |
| Ano3 |
T |
A |
2: 110,601,304 (GRCm39) |
Y318F |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,427,871 (GRCm39) |
D132E |
probably damaging |
Het |
| Atp2b2 |
A |
G |
6: 113,774,069 (GRCm39) |
|
probably null |
Het |
| Cast |
T |
C |
13: 74,876,532 (GRCm39) |
E447G |
probably damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,395,426 (GRCm39) |
I439T |
probably damaging |
Het |
| Ccdc50 |
A |
T |
16: 27,263,294 (GRCm39) |
R264S |
probably damaging |
Het |
| Cdhr18 |
T |
A |
14: 13,865,990 (GRCm38) |
K300* |
probably null |
Het |
| Chd9 |
T |
A |
8: 91,660,147 (GRCm39) |
V369E |
probably benign |
Het |
| Cnnm1 |
A |
G |
19: 43,428,884 (GRCm39) |
M1V |
probably null |
Het |
| Col4a1 |
T |
A |
8: 11,251,665 (GRCm39) |
|
probably benign |
Het |
| Crtac1 |
A |
G |
19: 42,322,386 (GRCm39) |
V118A |
probably damaging |
Het |
| Ddx59 |
T |
A |
1: 136,344,482 (GRCm39) |
V51D |
probably benign |
Het |
| Dipk1c |
A |
T |
18: 84,748,812 (GRCm39) |
T137S |
probably damaging |
Het |
| Dtd2 |
G |
C |
12: 52,051,734 (GRCm39) |
|
probably null |
Het |
| Ehmt1 |
A |
T |
2: 24,774,347 (GRCm39) |
|
probably null |
Het |
| Emc1 |
T |
A |
4: 139,090,496 (GRCm39) |
L412* |
probably null |
Het |
| Ep400 |
T |
C |
5: 110,904,389 (GRCm39) |
N70S |
possibly damaging |
Het |
| Ercc6l2 |
T |
C |
13: 64,018,549 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,336,814 (GRCm39) |
V1395A |
probably benign |
Het |
| Gps1 |
A |
G |
11: 120,677,259 (GRCm39) |
N186S |
possibly damaging |
Het |
| Hdgf |
T |
A |
3: 87,821,535 (GRCm39) |
D128E |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,301,107 (GRCm39) |
S362P |
probably damaging |
Het |
| Hypk |
C |
A |
2: 121,288,683 (GRCm39) |
H116Q |
possibly damaging |
Het |
| Ifna9 |
T |
A |
4: 88,510,508 (GRCm39) |
T39S |
possibly damaging |
Het |
| Itgae |
A |
C |
11: 73,006,969 (GRCm39) |
D405A |
probably damaging |
Het |
| Itprid1 |
T |
C |
6: 55,945,045 (GRCm39) |
S589P |
probably benign |
Het |
| Kdm5a |
T |
C |
6: 120,358,625 (GRCm39) |
S223P |
probably benign |
Het |
| Kif21a |
C |
T |
15: 90,821,497 (GRCm39) |
S1432N |
possibly damaging |
Het |
| Klhl1 |
A |
T |
14: 96,584,316 (GRCm39) |
C305S |
possibly damaging |
Het |
| Lrrn2 |
A |
G |
1: 132,866,230 (GRCm39) |
S432G |
probably benign |
Het |
| Mlana |
T |
A |
19: 29,682,098 (GRCm39) |
S50R |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,364,149 (GRCm39) |
H4383Q |
probably damaging |
Het |
| Ncor1 |
A |
G |
11: 62,216,442 (GRCm39) |
S1469P |
probably damaging |
Het |
| Nol6 |
G |
T |
4: 41,121,531 (GRCm39) |
F270L |
probably benign |
Het |
| Nr2c2 |
T |
A |
6: 92,137,382 (GRCm39) |
M431K |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,368,688 (GRCm39) |
I243V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,951,754 (GRCm39) |
I4297V |
possibly damaging |
Het |
| Onecut2 |
A |
G |
18: 64,474,591 (GRCm39) |
K381E |
probably damaging |
Het |
| Or52n1 |
T |
A |
7: 104,383,396 (GRCm39) |
E58D |
probably benign |
Het |
| Or8k23 |
T |
C |
2: 86,186,205 (GRCm39) |
I174V |
probably benign |
Het |
| Plod1 |
T |
C |
4: 148,000,280 (GRCm39) |
K260E |
possibly damaging |
Het |
| Rgsl1 |
T |
C |
1: 153,679,876 (GRCm39) |
|
probably null |
Het |
| Rpe65 |
T |
A |
3: 159,310,037 (GRCm39) |
F103L |
probably benign |
Het |
| Ryr3 |
C |
T |
2: 112,672,218 (GRCm39) |
A1438T |
possibly damaging |
Het |
| Slc17a3 |
G |
A |
13: 24,042,037 (GRCm39) |
V402M |
possibly damaging |
Het |
| Slc19a3 |
A |
T |
1: 83,000,678 (GRCm39) |
F113Y |
probably damaging |
Het |
| Snph |
C |
T |
2: 151,435,431 (GRCm39) |
C430Y |
probably damaging |
Het |
| Tarbp1 |
T |
C |
8: 127,167,510 (GRCm39) |
I1101V |
probably benign |
Het |
| Tatdn1 |
G |
A |
15: 58,793,020 (GRCm39) |
L120F |
possibly damaging |
Het |
| Trav3-3 |
A |
G |
14: 53,903,828 (GRCm39) |
K49E |
probably benign |
Het |
| Trpv5 |
T |
C |
6: 41,630,183 (GRCm39) |
T636A |
probably benign |
Het |
| Ube2l6 |
A |
G |
2: 84,639,418 (GRCm39) |
D127G |
possibly damaging |
Het |
| Usp33 |
T |
A |
3: 152,080,428 (GRCm39) |
|
probably null |
Het |
| Usp53 |
A |
T |
3: 122,727,954 (GRCm39) |
F876Y |
probably benign |
Het |
| Utrn |
A |
T |
10: 12,615,223 (GRCm39) |
I316K |
probably benign |
Het |
| Zfp106 |
G |
T |
2: 120,365,337 (GRCm39) |
Q357K |
probably damaging |
Het |
| Zfp143 |
T |
C |
7: 109,673,398 (GRCm39) |
V138A |
probably damaging |
Het |
| Zfp451 |
T |
C |
1: 33,818,126 (GRCm39) |
R118G |
probably null |
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 |
|
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 |
|
|
R5381:Palb2
|
UTSW |
7 |
121,727,636 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- CCTGCTTTTAATACTGAAGTGTGAG -3'
(R):5'- TCACACTTCGCACATAGTCC -3'
Sequencing Primer
(F):5'- ACTGAAGTGTGAGTTATAATGTGTAC -3'
(R):5'- GTAATCTCAGCTCCTCAGAAGGCTG -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation