Incidental Mutation 'R7769:Palb2'
ID 598470
Institutional Source Beutler Lab
Gene Symbol Palb2
Ensembl Gene ENSMUSG00000044702
Gene Name partner and localizer of BRCA2
Synonyms
MMRRC Submission 045825-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7769 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 121706485-121732203 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 121727638 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 77 (D77E)
Ref Sequence ENSEMBL: ENSMUSP00000095675 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033156] [ENSMUST00000063587] [ENSMUST00000098068] [ENSMUST00000106468] [ENSMUST00000106469] [ENSMUST00000131657] [ENSMUST00000142952] [ENSMUST00000176193]
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 benign
Transcript: ENSMUST00000098068
AA Change: D77E

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: D77E

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 benign
Transcript: ENSMUST00000106468
AA Change: D77E

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: D77E

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 unknown
Transcript: ENSMUST00000106469
AA Change: D77E
SMART Domains Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
AA Change: D77E

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 probably benign
Transcript: ENSMUST00000131657
Predicted Effect probably benign
Transcript: ENSMUST00000142952
Predicted Effect probably benign
Transcript: ENSMUST00000176193
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (71/74)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 ACCAGCCC ACC 14: 118,852,682 (GRCm39) probably null Het
Abhd14b T C 9: 106,328,819 (GRCm39) Y147H probably damaging Het
Adam26b C A 8: 43,974,732 (GRCm39) R90L probably benign Het
Agt A T 8: 125,291,289 (GRCm39) M6K probably benign Het
Akr1c14 T C 13: 4,109,644 (GRCm39) S5P probably benign Het
Arhgef38 A C 3: 132,855,383 (GRCm39) S235A unknown Het
Cabp5 A G 7: 13,134,658 (GRCm39) D31G probably benign Het
Cacna1h T A 17: 25,604,779 (GRCm39) D1178V probably damaging Het
Ccdc88a A T 11: 29,432,381 (GRCm39) E1199D probably damaging Het
Cd244a A T 1: 171,404,873 (GRCm39) I242F probably benign Het
Clpb G T 7: 101,371,924 (GRCm39) R220L probably damaging Het
Cltc C T 11: 86,610,319 (GRCm39) R638H probably damaging Het
Cnr1 A T 4: 33,944,892 (GRCm39) M427L probably benign Het
Ctnnbl1 C T 2: 157,579,390 (GRCm39) probably benign Het
Epb41l2 A T 10: 25,369,471 (GRCm39) T597S probably benign Het
Epb41l3 T C 17: 69,545,421 (GRCm39) Y163H probably damaging Het
Fgg A G 3: 82,920,433 (GRCm39) probably null Het
Gm37240 A T 3: 84,417,232 (GRCm39) D162E possibly damaging Het
Gm44511 T A 6: 128,797,240 (GRCm39) T83S probably benign Het
Gm6685 T A 11: 28,289,252 (GRCm39) Y188F probably benign Het
Gprin2 A T 14: 33,917,570 (GRCm39) C67S probably benign Het
Grk6 A G 13: 55,598,820 (GRCm39) D140G probably benign Het
Hps3 T C 3: 20,072,972 (GRCm39) probably null Het
Hspb7 T C 4: 141,151,335 (GRCm39) V159A possibly damaging Het
Ibsp A G 5: 104,453,871 (GRCm39) N70D probably benign Het
Ibsp A G 5: 104,458,050 (GRCm39) N196D probably damaging Het
Igfn1 A T 1: 135,910,143 (GRCm39) F147Y possibly damaging Het
Iqca1 T G 1: 90,005,532 (GRCm39) D492A possibly damaging Het
Klhl42 T C 6: 146,993,358 (GRCm39) L110P possibly damaging Het
Krt12 C T 11: 99,308,852 (GRCm39) R395Q probably damaging Het
Lig4 A T 8: 10,023,629 (GRCm39) H50Q possibly damaging Het
Mttp A C 3: 137,808,873 (GRCm39) L730R probably damaging Het
Muc16 T A 9: 18,571,803 (GRCm39) I239L unknown Het
Myo15a T C 11: 60,399,975 (GRCm39) F1723L Het
Niban2 A G 2: 32,809,844 (GRCm39) T314A possibly damaging Het
Nin T C 12: 70,090,004 (GRCm39) D1137G Het
Nsf C T 11: 103,819,665 (GRCm39) V35M probably damaging Het
Numa1 T A 7: 101,648,207 (GRCm39) I646K possibly damaging Het
Nwd2 A G 5: 63,961,847 (GRCm39) N477S probably damaging Het
Or1p1 T A 11: 74,179,589 (GRCm39) V39E probably damaging Het
P4ha3 A G 7: 99,934,924 (GRCm39) D62G probably damaging Het
Pcmtd2 T C 2: 181,493,494 (GRCm39) V233A probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pgr C T 9: 8,946,856 (GRCm39) T699I possibly damaging Het
Pknox2 C A 9: 36,806,602 (GRCm39) probably null Het
Ppp2r3d T C 9: 124,439,087 (GRCm38) H110R Het
Psmd11 T A 11: 80,325,408 (GRCm39) probably benign Het
Pyroxd2 T C 19: 42,736,001 (GRCm39) N59S probably benign Het
Qser1 A T 2: 104,588,921 (GRCm39) D1662E possibly damaging Het
Rasip1 A G 7: 45,278,239 (GRCm39) Y180C probably damaging Het
Rbl1 T C 2: 157,033,900 (GRCm39) S393G probably benign Het
Rtn4r C T 16: 17,969,153 (GRCm39) P194S probably benign Het
Ryr1 C T 7: 28,798,210 (GRCm39) G944D probably damaging Het
Scamp3 A G 3: 89,085,298 (GRCm39) D23G probably damaging Het
Secisbp2l CTGGG C 2: 125,613,465 (GRCm39) probably benign Het
Shcbp1 A G 8: 4,789,232 (GRCm39) I529T probably damaging Het
Slc5a10 T A 11: 61,564,473 (GRCm39) D502V probably damaging Het
Smad5 T C 13: 56,880,855 (GRCm39) I323T possibly damaging Het
Spred1 T C 2: 117,007,930 (GRCm39) S279P probably benign Het
Stag1 T A 9: 100,826,880 (GRCm39) V949D possibly damaging Het
Stxbp3 A G 3: 108,708,144 (GRCm39) S386P probably benign Het
Syt14 A G 1: 192,666,632 (GRCm39) S91P unknown Het
Thpo C T 16: 20,544,401 (GRCm39) A211T probably benign Het
Tns1 T A 1: 73,992,530 (GRCm39) D716V probably damaging Het
Trbv26 A G 6: 41,204,481 (GRCm39) Y8C probably benign Het
Tshr A G 12: 91,505,044 (GRCm39) I661V probably damaging Het
Uvrag G A 7: 98,628,928 (GRCm39) P380S probably damaging Het
Vkorc1 G T 7: 127,493,696 (GRCm39) Y88* probably null Het
Vmn1r63 C T 7: 5,806,369 (GRCm39) V88M probably damaging Het
Wdsub1 A G 2: 59,708,763 (GRCm39) Y37H probably damaging Het
Zap70 A G 1: 36,809,983 (GRCm39) D31G probably benign Het
Zc3h12d G A 10: 7,743,390 (GRCm39) A387T probably benign Het
Zfp438 C T 18: 5,213,377 (GRCm39) R527H 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
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
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'
Posted On 2019-11-26