Incidental Mutation 'R8271:Palb2'
ID |
637721 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Palb2
|
Ensembl Gene |
ENSMUSG00000044702 |
Gene Name |
partner and localizer of BRCA2 |
Synonyms |
|
MMRRC Submission |
067652-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8271 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
121706485-121732203 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121724097 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 551
(S551T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095675
(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 damaging
Transcript: ENSMUST00000098068
AA Change: S551T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095675 Gene: ENSMUSG00000044702 AA Change: S551T
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 damaging
Transcript: ENSMUST00000106468
AA Change: S551T
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102076 Gene: ENSMUSG00000044702 AA Change: S551T
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 damaging
Transcript: ENSMUST00000106469
AA Change: S188T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102077 Gene: ENSMUSG00000044702 AA Change: S188T
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (65/65) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
A |
T |
5: 8,736,212 (GRCm39) |
I202L |
probably benign |
Het |
Acadsb |
A |
T |
7: 131,045,423 (GRCm39) |
T452S |
unknown |
Het |
Ago2 |
A |
T |
15: 72,991,315 (GRCm39) |
L541Q |
probably damaging |
Het |
Ap2a2 |
A |
T |
7: 141,200,812 (GRCm39) |
E553V |
probably damaging |
Het |
Astn2 |
T |
C |
4: 65,910,663 (GRCm39) |
K442E |
unknown |
Het |
Bicd1 |
A |
G |
6: 149,414,633 (GRCm39) |
T449A |
probably benign |
Het |
Btn1a1 |
T |
A |
13: 23,645,919 (GRCm39) |
Q150L |
probably benign |
Het |
C1ra |
G |
A |
6: 124,499,610 (GRCm39) |
G599R |
probably damaging |
Het |
Camta2 |
T |
A |
11: 70,561,886 (GRCm39) |
Q1076L |
probably benign |
Het |
Capza2 |
T |
A |
6: 17,657,214 (GRCm39) |
C157S |
probably damaging |
Het |
Ccnk |
A |
G |
12: 108,162,114 (GRCm39) |
|
probably benign |
Het |
Chd3 |
T |
A |
11: 69,251,483 (GRCm39) |
D516V |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 99,999,832 (GRCm39) |
T197A |
probably benign |
Het |
Comp |
A |
G |
8: 70,829,110 (GRCm39) |
N260S |
probably damaging |
Het |
Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
Ddx60 |
T |
A |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
Defb22 |
C |
T |
2: 152,327,712 (GRCm39) |
V158I |
unknown |
Het |
Diaph3 |
T |
C |
14: 87,103,949 (GRCm39) |
S812G |
probably damaging |
Het |
Dohh |
G |
T |
10: 81,221,844 (GRCm39) |
Q79H |
probably benign |
Het |
Dyrk1b |
T |
G |
7: 27,882,080 (GRCm39) |
V147G |
probably benign |
Het |
Fastkd2 |
C |
T |
1: 63,787,183 (GRCm39) |
T539I |
probably benign |
Het |
Itpr3 |
G |
A |
17: 27,306,622 (GRCm39) |
D229N |
probably damaging |
Het |
Kcnv1 |
A |
T |
15: 44,972,754 (GRCm39) |
D376E |
probably benign |
Het |
Kif13a |
C |
A |
13: 46,906,057 (GRCm39) |
V1577F |
probably benign |
Het |
L3mbtl4 |
G |
A |
17: 68,793,938 (GRCm39) |
R314H |
probably damaging |
Het |
Mcoln2 |
A |
C |
3: 145,898,179 (GRCm39) |
N100T |
unknown |
Het |
Mdh1b |
C |
T |
1: 63,759,164 (GRCm39) |
V143M |
possibly damaging |
Het |
Mfsd4b4 |
G |
T |
10: 39,768,101 (GRCm39) |
Q377K |
probably benign |
Het |
Mpv17l |
T |
C |
16: 13,762,584 (GRCm39) |
F122S |
probably damaging |
Het |
Mylk |
T |
C |
16: 34,742,949 (GRCm39) |
S1154P |
probably damaging |
Het |
Myo5b |
A |
G |
18: 74,760,261 (GRCm39) |
Y259C |
probably damaging |
Het |
Nek1 |
G |
A |
8: 61,558,646 (GRCm39) |
V931M |
probably benign |
Het |
Nkd2 |
C |
A |
13: 73,969,437 (GRCm39) |
G343V |
probably damaging |
Het |
Obox8 |
T |
A |
7: 14,065,928 (GRCm39) |
T197S |
probably benign |
Het |
Or10j5 |
T |
A |
1: 172,784,744 (GRCm39) |
C127* |
probably null |
Het |
Or13g1 |
G |
A |
7: 85,955,962 (GRCm39) |
R120C |
probably benign |
Het |
Or4b1b |
A |
G |
2: 90,112,616 (GRCm39) |
F101S |
possibly damaging |
Het |
Or5m11b |
T |
G |
2: 85,806,085 (GRCm39) |
M166R |
probably benign |
Het |
Or5m11b |
T |
C |
2: 85,805,766 (GRCm39) |
Y60H |
probably damaging |
Het |
Or5p57 |
A |
G |
7: 107,664,980 (GRCm39) |
S342P |
probably damaging |
Het |
Or5t7 |
T |
A |
2: 86,507,218 (GRCm39) |
H153L |
probably benign |
Het |
Pcdha12 |
T |
A |
18: 37,154,953 (GRCm39) |
D557E |
probably damaging |
Het |
Pcdhb21 |
T |
A |
18: 37,648,921 (GRCm39) |
D683E |
probably benign |
Het |
Plekhb1 |
A |
G |
7: 100,305,936 (GRCm39) |
|
probably benign |
Het |
Plekhg5 |
A |
G |
4: 152,187,464 (GRCm39) |
N90D |
probably damaging |
Het |
Pnpla1 |
A |
G |
17: 29,100,579 (GRCm39) |
D482G |
probably benign |
Het |
Rc3h1 |
A |
T |
1: 160,768,329 (GRCm39) |
|
probably benign |
Het |
Rfpl4 |
C |
T |
7: 5,113,539 (GRCm39) |
R214H |
probably benign |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Setd5 |
T |
C |
6: 113,092,031 (GRCm39) |
I284T |
possibly damaging |
Het |
Smurf1 |
C |
T |
5: 144,830,897 (GRCm39) |
E293K |
possibly damaging |
Het |
Tas2r106 |
A |
T |
6: 131,655,023 (GRCm39) |
I276N |
probably damaging |
Het |
Tbc1d2 |
C |
A |
4: 46,649,791 (GRCm39) |
A82S |
possibly damaging |
Het |
Tex19.2 |
A |
G |
11: 121,008,010 (GRCm39) |
I146T |
possibly damaging |
Het |
Tmem107 |
T |
G |
11: 68,962,281 (GRCm39) |
N79K |
probably damaging |
Het |
Tpsab1 |
A |
T |
17: 25,564,305 (GRCm39) |
S50T |
probably benign |
Het |
Ttn |
T |
A |
2: 76,553,594 (GRCm39) |
K31008* |
probably null |
Het |
Ubox5 |
T |
C |
2: 130,441,629 (GRCm39) |
T353A |
probably benign |
Het |
Usp24 |
T |
A |
4: 106,285,711 (GRCm39) |
H2445Q |
probably damaging |
Het |
Uvrag |
T |
C |
7: 98,537,698 (GRCm39) |
D499G |
probably benign |
Het |
Xndc1 |
A |
T |
7: 101,728,343 (GRCm39) |
N247I |
possibly damaging |
Het |
Yipf2 |
A |
T |
9: 21,501,291 (GRCm39) |
W226R |
probably damaging |
Het |
Zfp335 |
T |
A |
2: 164,739,973 (GRCm39) |
Q793L |
probably damaging |
Het |
Zfp385c |
A |
G |
11: 100,548,291 (GRCm39) |
S54P |
probably damaging |
Het |
Zpld2 |
G |
T |
4: 133,930,278 (GRCm39) |
T9K |
unknown |
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 |
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 |
|
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'- TGAAGAAAGGTCCTTGCTCCC -3'
(R):5'- GTGAACATACACGTGTGAGC -3'
Sequencing Primer
(F):5'- CTGCCTTCTCAGGGTTGGC -3'
(R):5'- ATACACGTGTGAGCCGTGC -3'
|
Posted On |
2020-07-28 |