Incidental Mutation 'R5793:Palb2'
ID |
447075 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Palb2
|
Ensembl Gene |
ENSMUSG00000044702 |
Gene Name |
partner and localizer of BRCA2 |
Synonyms |
|
MMRRC Submission |
043208-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5793 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
121706485-121732203 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121726860 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 337
(N337D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102076
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000063587]
[ENSMUST00000098068]
[ENSMUST00000106468]
[ENSMUST00000106469]
[ENSMUST00000131657]
[ENSMUST00000142952]
|
AlphaFold |
Q3U0P1 |
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: N337D
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000095675 Gene: ENSMUSG00000044702 AA Change: N337D
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: N337D
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000102076 Gene: ENSMUSG00000044702 AA Change: N337D
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
|
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 |
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 |
probably benign
Transcript: ENSMUST00000131657
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142952
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205352
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162843
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alox12 |
C |
A |
11: 70,133,879 (GRCm39) |
R522L |
probably benign |
Het |
Arfgef1 |
A |
T |
1: 10,279,753 (GRCm39) |
D271E |
probably benign |
Het |
Arg1 |
C |
T |
10: 24,796,540 (GRCm39) |
V96M |
probably benign |
Het |
Axin1 |
T |
C |
17: 26,362,282 (GRCm39) |
S209P |
probably damaging |
Het |
B4galnt3 |
A |
G |
6: 120,185,865 (GRCm39) |
|
probably null |
Het |
Cdh23 |
T |
A |
10: 60,141,907 (GRCm39) |
D3058V |
probably damaging |
Het |
Chd9 |
A |
G |
8: 91,728,384 (GRCm39) |
T794A |
probably damaging |
Het |
Ckap5 |
C |
T |
2: 91,450,180 (GRCm39) |
T1891I |
possibly damaging |
Het |
Cspg4b |
G |
T |
13: 113,457,556 (GRCm39) |
V1201L |
possibly damaging |
Het |
Dzank1 |
T |
C |
2: 144,348,144 (GRCm39) |
I207M |
probably benign |
Het |
Fkbp9 |
G |
A |
6: 56,850,498 (GRCm39) |
|
probably null |
Het |
Gm4781 |
T |
A |
10: 100,232,529 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gtpbp6 |
G |
A |
5: 110,255,094 (GRCm39) |
L33F |
probably benign |
Het |
Hsd11b1 |
A |
C |
1: 192,924,492 (GRCm39) |
F27V |
probably damaging |
Het |
Ift172 |
A |
T |
5: 31,434,292 (GRCm39) |
I482N |
possibly damaging |
Het |
Kcnma1 |
C |
T |
14: 23,359,103 (GRCm39) |
|
probably null |
Het |
Ly6g2 |
T |
C |
15: 75,093,493 (GRCm39) |
|
probably benign |
Het |
Myh9 |
T |
C |
15: 77,653,077 (GRCm39) |
Q1420R |
probably benign |
Het |
Ncam2 |
G |
A |
16: 81,372,991 (GRCm39) |
V569I |
possibly damaging |
Het |
Nsd1 |
T |
C |
13: 55,395,819 (GRCm39) |
V1140A |
probably benign |
Het |
Ogdhl |
T |
A |
14: 32,054,730 (GRCm39) |
L226Q |
probably damaging |
Het |
Or51a24 |
T |
C |
7: 103,734,237 (GRCm39) |
T17A |
probably benign |
Het |
Orc2 |
T |
C |
1: 58,536,547 (GRCm39) |
M1V |
probably null |
Het |
Padi2 |
T |
C |
4: 140,660,501 (GRCm39) |
L327P |
probably benign |
Het |
Pard3b |
A |
T |
1: 61,807,132 (GRCm39) |
H49L |
probably damaging |
Het |
Pigz |
T |
C |
16: 31,764,285 (GRCm39) |
S448P |
probably benign |
Het |
Ppfia4 |
A |
G |
1: 134,239,844 (GRCm39) |
V911A |
probably damaging |
Het |
Prr5 |
T |
A |
15: 84,656,223 (GRCm39) |
M408K |
probably benign |
Het |
Qser1 |
T |
C |
2: 104,593,205 (GRCm39) |
Y1604C |
probably damaging |
Het |
Rpgrip1l |
A |
G |
8: 91,987,400 (GRCm39) |
S886P |
probably benign |
Het |
Sdk2 |
T |
C |
11: 113,759,778 (GRCm39) |
I408V |
possibly damaging |
Het |
Sema7a |
A |
T |
9: 57,867,540 (GRCm39) |
R431W |
probably damaging |
Het |
Slc22a30 |
T |
A |
19: 8,314,183 (GRCm39) |
Y501F |
possibly damaging |
Het |
Slitrk5 |
T |
A |
14: 111,917,345 (GRCm39) |
V323D |
probably damaging |
Het |
Snap47 |
C |
T |
11: 59,329,018 (GRCm39) |
E95K |
probably damaging |
Het |
Tbc1d9 |
A |
T |
8: 83,998,069 (GRCm39) |
I1209F |
probably damaging |
Het |
Tek |
T |
A |
4: 94,708,333 (GRCm39) |
M297K |
probably benign |
Het |
Tmem132e |
T |
A |
11: 82,335,684 (GRCm39) |
I922N |
probably damaging |
Het |
Tmx2 |
T |
C |
2: 84,506,501 (GRCm39) |
R64G |
probably damaging |
Het |
Trim68 |
A |
T |
7: 102,333,560 (GRCm39) |
S41T |
possibly damaging |
Het |
Tsga10 |
A |
T |
1: 37,874,540 (GRCm39) |
M115K |
probably damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Vmn2r84 |
C |
T |
10: 130,221,754 (GRCm39) |
C822Y |
probably damaging |
Het |
Wdr72 |
C |
T |
9: 74,117,625 (GRCm39) |
A779V |
probably benign |
Het |
Zfp580 |
A |
T |
7: 5,055,891 (GRCm39) |
|
probably benign |
Het |
Zfp772 |
G |
A |
7: 7,207,283 (GRCm39) |
T136I |
probably benign |
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 |
|
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 |
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'- GACAATCTGACATACGACGGG -3'
(R):5'- CAAAATTACTACTCAGGGCCCGG -3'
Sequencing Primer
(F):5'- CTGACATACGACGGGTTGTTCTAAC -3'
(R):5'- GGCTTCATCCACAAACCTGGTG -3'
|
Posted On |
2016-12-15 |