Incidental Mutation 'R0128:Palb2'
ID 21513
Institutional Source Beutler Lab
Gene Symbol Palb2
Ensembl Gene ENSMUSG00000044702
Gene Name partner and localizer of BRCA2
Synonyms
MMRRC Submission 038413-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0128 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 7
Chromosomal Location 121706485-121732203 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 121727389 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 160 (Y160*)
Ref Sequence ENSEMBL: ENSMUSP00000102077 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033156] [ENSMUST00000063587] [ENSMUST00000098068] [ENSMUST00000106468] [ENSMUST00000106469] [ENSMUST00000131657] [ENSMUST00000176193] [ENSMUST00000142952]
AlphaFold Q3U0P1
Predicted Effect probably benign
Transcript: ENSMUST00000033156
SMART Domains Protein: ENSMUSP00000033156
Gene: ENSMUSG00000030868

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
AA Change: Y160*
SMART Domains Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: Y160*

DomainStartEndE-ValueType
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
AA Change: Y160*
SMART Domains Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: Y160*

DomainStartEndE-ValueType
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
AA Change: Y160*
SMART Domains Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
AA Change: Y160*

DomainStartEndE-ValueType
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: ENSMUST00000162843
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205352
Predicted Effect probably benign
Transcript: ENSMUST00000131657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130149
SMART Domains Protein: ENSMUSP00000121994
Gene: ENSMUSG00000044702

DomainStartEndE-ValueType
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: ENSMUST00000176193
Predicted Effect probably benign
Transcript: ENSMUST00000142952
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.6%
  • 10x: 93.0%
  • 20x: 79.3%
Validation Efficiency 99% (84/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,552,602 (GRCm39) probably benign Het
Abcd4 T G 12: 84,659,126 (GRCm39) Q210P possibly damaging Het
Ablim2 G A 5: 35,966,520 (GRCm39) probably benign Het
Acte1 G T 7: 143,445,492 (GRCm39) G178C probably damaging Het
Actl6b A G 5: 137,553,327 (GRCm39) N113S probably benign Het
Actn3 A T 19: 4,921,643 (GRCm39) V179E probably damaging Het
Aff4 C A 11: 53,306,293 (GRCm39) T1145N probably damaging Het
Ankrd42 G A 7: 92,241,067 (GRCm39) Q431* probably null Het
Anxa9 A G 3: 95,209,733 (GRCm39) S129P probably benign Het
Arfgef2 T G 2: 166,677,639 (GRCm39) I88S probably damaging Het
Asap3 C A 4: 135,961,915 (GRCm39) N285K probably damaging Het
Atp6v0a2 A G 5: 124,790,248 (GRCm39) N477S probably damaging Het
Atp7b C T 8: 22,518,188 (GRCm39) E205K possibly damaging Het
Atp8b5 T A 4: 43,369,715 (GRCm39) probably null Het
C87436 G A 6: 86,446,809 (GRCm39) G533D probably damaging Het
Ccdc138 T A 10: 58,364,182 (GRCm39) I314N probably damaging Het
Ccs A G 19: 4,875,654 (GRCm39) F237S probably damaging Het
Ccz1 T G 5: 143,946,112 (GRCm39) probably benign Het
Cdcp2 C T 4: 106,963,904 (GRCm39) probably benign Het
Chd1 A G 17: 17,613,829 (GRCm39) N531S probably damaging Het
Clptm1 A T 7: 19,368,932 (GRCm39) F476I probably damaging Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cped1 T A 6: 22,121,038 (GRCm39) Y373N probably benign Het
Cr2 A T 1: 194,848,539 (GRCm39) V328D probably damaging Het
D630045J12Rik A T 6: 38,126,706 (GRCm39) probably benign Het
Dcdc2a A T 13: 25,371,655 (GRCm39) probably benign Het
Dlg1 G T 16: 31,676,883 (GRCm39) probably null Het
Epb41l5 A C 1: 119,477,632 (GRCm39) V705G possibly damaging Het
Ergic3 C A 2: 155,853,060 (GRCm39) R43S possibly damaging Het
Flnb T C 14: 7,901,951 (GRCm38) V938A probably damaging Het
Frmd4a T C 2: 4,608,903 (GRCm39) Y928H probably damaging Het
Fyn C T 10: 39,387,978 (GRCm39) T78M probably benign Het
Gdap2 A G 3: 100,109,311 (GRCm39) T443A probably damaging Het
Ghrl A T 6: 113,694,129 (GRCm39) probably benign Het
Gm4787 T A 12: 81,424,521 (GRCm39) K546* probably null Het
Gm6576 C G 15: 27,026,086 (GRCm39) noncoding transcript Het
Got1 C T 19: 43,512,816 (GRCm39) D27N probably benign Het
Gucy2c C T 6: 136,681,247 (GRCm39) V946I probably damaging Het
Hectd4 T C 5: 121,487,306 (GRCm39) Y3434H possibly damaging Het
Hp1bp3 C T 4: 137,964,520 (GRCm39) S348F probably damaging Het
Itpr1 A G 6: 108,448,170 (GRCm39) probably benign Het
Kctd1 G A 18: 15,107,237 (GRCm39) P743S probably benign Het
Klhl23 T C 2: 69,664,310 (GRCm39) V553A probably damaging Het
Krt24 T C 11: 99,171,093 (GRCm39) D495G probably damaging Het
L3hypdh C T 12: 72,123,917 (GRCm39) probably null Het
Lipo3 C T 19: 33,534,506 (GRCm39) probably null Het
Lman2l G T 1: 36,463,945 (GRCm39) S171* probably null Het
Lrp1b T C 2: 41,401,520 (GRCm39) D378G probably damaging Het
Map3k4 T A 17: 12,466,950 (GRCm39) D1104V probably damaging Het
Mpeg1 T C 19: 12,438,587 (GRCm39) V15A probably benign Het
Narf C T 11: 121,141,662 (GRCm39) R356C probably damaging Het
Nebl T A 2: 17,397,834 (GRCm39) Q487H possibly damaging Het
Olfm5 G A 7: 103,810,133 (GRCm39) A76V probably benign Het
Or1j11 T A 2: 36,312,299 (GRCm39) D296E probably benign Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or52p1 A T 7: 104,267,788 (GRCm39) I301F probably damaging Het
Or5ak22 T A 2: 85,230,305 (GRCm39) S191C probably damaging Het
Or8k40 T C 2: 86,584,231 (GRCm39) M284V probably benign Het
Pasd1 T C X: 70,983,161 (GRCm39) C378R possibly damaging Het
Paxip1 C T 5: 27,949,183 (GRCm39) probably benign Het
Pclo A G 5: 14,729,811 (GRCm39) probably benign Het
Pdcd11 G A 19: 47,108,301 (GRCm39) V1223I probably benign Het
Pde6c T C 19: 38,157,813 (GRCm39) probably benign Het
Prr12 A G 7: 44,699,463 (GRCm39) probably benign Het
Prss39 T A 1: 34,541,281 (GRCm39) probably benign Het
Samd5 A G 10: 9,550,683 (GRCm39) W9R probably damaging Het
Sfr1 A G 19: 47,723,457 (GRCm39) *320W probably null Het
Sft2d1rt A G 11: 45,943,120 (GRCm39) M1T probably null Het
Sh3bp4 A G 1: 89,073,036 (GRCm39) N628S possibly damaging Het
Sim1 A T 10: 50,784,057 (GRCm39) I104F probably damaging Het
Slc1a3 T C 15: 8,665,693 (GRCm39) M519V probably benign Het
Smcp T A 3: 92,491,827 (GRCm39) T7S unknown Het
Sp4 A G 12: 118,264,551 (GRCm39) probably benign Het
Spag9 T A 11: 93,984,365 (GRCm39) I327N probably damaging Het
Thbs4 G T 13: 92,890,918 (GRCm39) H850N probably benign Het
Ubap2l A T 3: 89,928,680 (GRCm39) S478T possibly damaging Het
Unc79 A G 12: 103,054,693 (GRCm39) probably benign Het
Vmn2r85 A G 10: 130,255,054 (GRCm39) probably benign Het
Wrap73 A G 4: 154,226,957 (GRCm39) D19G possibly damaging Het
Other mutations in Palb2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- TGCTGTTTGACGCAGTACATGAAGG -3'
(R):5'- TGTGACACATTGCAAAGCAACCATC -3'

Sequencing Primer
(F):5'- GGAGACAGTATTTCCTCTCACAAG -3'
(R):5'- CTCTCAGATACTTGATGTTGAACC -3'
Posted On 2013-04-11