Mutagenetix > Incidental Mutation

Incidental Mutation 'R6897:Palb2'

538394

Institutional Source

Beutler Lab

Gene Symbol

Palb2

Ensembl Gene

ENSMUSG00000044702

Gene Name

partner and localizer of BRCA2

Synonyms

MMRRC Submission

044991-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6897 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121706485-121732203 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 121726270 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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 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 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

probably benign
Transcript: ENSMUST00000131657

Predicted Effect

probably benign
Transcript: ENSMUST00000142952

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

97% (72/74)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,889,534 (GRCm39)	I28V	possibly damaging	Het
Adamts2	A	T	11: 50,627,991 (GRCm39)		probably null	Het
Adgrg1	T	C	8: 95,729,126 (GRCm39)	F17L	probably benign	Het
Aldob	A	G	4: 49,539,789 (GRCm39)	L183P	probably damaging	Het
Alg5	T	C	3: 54,656,063 (GRCm39)	C270R	probably benign	Het
Anxa4	T	A	6: 86,720,160 (GRCm39)		probably null	Het
Armc2	C	A	10: 41,869,225 (GRCm39)		probably null	Het
Atrnl1	A	G	19: 58,030,800 (GRCm39)	N1314S	probably benign	Het
Bbs7	T	A	3: 36,652,460 (GRCm39)	E331V	probably benign	Het
Bmper	T	A	9: 23,285,225 (GRCm39)	V258E	probably benign	Het
Catspere2	A	T	1: 177,939,139 (GRCm39)	I671F	possibly damaging	Het
Cd101	A	G	3: 100,920,376 (GRCm39)	S508P	probably damaging	Het
Cd177	C	T	7: 24,444,499 (GRCm39)	R694H	probably benign	Het
Clptm1	C	A	7: 19,369,751 (GRCm39)	Q386H	possibly damaging	Het
Cnrip1	A	G	11: 17,004,705 (GRCm39)	Y85C	probably damaging	Het
Dclk2	A	T	3: 86,739,070 (GRCm39)	F310I	probably benign	Het
Dmxl1	A	G	18: 49,984,562 (GRCm39)	K186R	probably null	Het
Dmxl1	C	A	18: 49,996,124 (GRCm39)	Q417K	possibly damaging	Het
Eloa	T	C	4: 135,740,220 (GRCm39)	D67G	possibly damaging	Het
Elovl4	T	C	9: 83,665,278 (GRCm39)	I103V	probably benign	Het
Gabpa	C	G	16: 84,657,361 (GRCm39)	A412G	probably benign	Het
Gldn	T	A	9: 54,242,158 (GRCm39)		probably null	Het
Ino80d	A	T	1: 63,104,993 (GRCm39)	I361N	probably damaging	Het
Kalrn	G	A	16: 33,796,073 (GRCm39)	T1234M	probably damaging	Het
Kcnk13	T	A	12: 100,028,026 (GRCm39)	M367K	probably benign	Het
Klrd1	G	A	6: 129,570,468 (GRCm39)	R8Q	possibly damaging	Het
Kmt2a	T	C	9: 44,758,942 (GRCm39)	N969S	probably benign	Het
Lgi4	A	G	7: 30,768,315 (GRCm39)	D438G	probably benign	Het
Lig1	T	C	7: 13,039,840 (GRCm39)	L684P	probably damaging	Het
Lrp2	T	C	2: 69,340,846 (GRCm39)	M1010V	probably benign	Het
Magi3	C	A	3: 103,996,873 (GRCm39)	R224I	probably damaging	Het
Mier2	T	C	10: 79,380,573 (GRCm39)	N277S	probably damaging	Het
Morn1	A	G	4: 155,171,112 (GRCm39)	H17R	probably benign	Het
Nf2	A	T	11: 4,749,878 (GRCm39)	S265T	probably damaging	Het
Or5m11b	A	G	2: 85,805,700 (GRCm39)	T38A	possibly damaging	Het
Or8k24	G	A	2: 86,216,024 (GRCm39)	T246I	possibly damaging	Het
Pdzd2	C	T	15: 12,385,951 (GRCm39)	V940M	probably damaging	Het
Phldb2	T	C	16: 45,598,138 (GRCm39)	K850E	probably damaging	Het
Pitx1	G	A	13: 55,976,335 (GRCm39)	T108M	probably damaging	Het
Polr2a	C	T	11: 69,626,787 (GRCm39)	A1516T	probably benign	Het
Pomp	T	A	5: 147,812,313 (GRCm39)	M133K	possibly damaging	Het
Prex1	T	C	2: 166,423,913 (GRCm39)	E993G	probably damaging	Het
Prrc2c	C	A	1: 162,533,075 (GRCm39)		probably benign	Het
Pwp2	C	A	10: 78,007,917 (GRCm39)	Q879H	probably damaging	Het
Rab26	G	A	17: 24,748,766 (GRCm39)	T245I	probably damaging	Het
Rapgef1	A	G	2: 29,592,514 (GRCm39)	D502G	probably damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sema5a	T	A	15: 32,550,421 (GRCm39)	D153E	probably benign	Het
Sez6	C	G	11: 77,844,385 (GRCm39)	H69Q	probably damaging	Het
Sgsm3	A	T	15: 80,893,095 (GRCm39)	T391S	probably benign	Het
Sh3rf2	T	C	18: 42,234,670 (GRCm39)	V151A	possibly damaging	Het
Socs1	G	T	16: 10,602,266 (GRCm39)	A157E	probably benign	Het
Spmip4	T	A	6: 50,566,145 (GRCm39)	Q110L	possibly damaging	Het
Sptbn4	C	A	7: 27,071,375 (GRCm39)	V346L	possibly damaging	Het
Srgap1	T	A	10: 121,621,523 (GRCm39)	H990L	probably damaging	Het
Tbc1d9	G	T	8: 83,892,809 (GRCm39)	G36W	probably damaging	Het
Tbk1	T	C	10: 121,395,782 (GRCm39)	E437G	probably benign	Het
Tns3	A	G	11: 8,481,743 (GRCm39)	L203P	probably damaging	Het
Tspoap1	A	T	11: 87,656,638 (GRCm39)	K283M	probably damaging	Het
Ttyh1	C	T	7: 4,127,649 (GRCm39)		probably benign	Het
Ufd1	T	A	16: 18,645,850 (GRCm39)	I254N	probably benign	Het
Ugdh	T	G	5: 65,584,776 (GRCm39)	T49P	probably benign	Het
Vav3	T	C	3: 109,434,810 (GRCm39)	L447P	probably damaging	Het
Vmn1r216	A	T	13: 23,283,445 (GRCm39)	K43*	probably null	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Vmn2r13	A	G	5: 109,306,015 (GRCm39)	I521T	possibly damaging	Het
Wdfy3	T	C	5: 101,991,932 (GRCm39)	T3470A	probably benign	Het
Wdhd1	T	A	14: 47,485,587 (GRCm39)	K791N	probably damaging	Het
Xirp2	A	G	2: 67,338,911 (GRCm39)	D384G	probably damaging	Het
Zfp512b	C	T	2: 181,232,273 (GRCm39)	R86Q	probably damaging	Het
Zfp735	A	C	11: 73,601,880 (GRCm39)	I275L	probably benign	Het
Zfp957	A	T	14: 79,451,344 (GRCm39)	S152T	probably damaging	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
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'- TTTTCAAGCACACCACTGACCTG -3'
(R):5'- GAAACTGCTCTCACCAGCTG -3'

Sequencing Primer
(F):5'- TGCGGTGCCACACTGTAC -3'
(R):5'- TCCAGGACCTGCTGGAAAG -3'

Posted On

2018-11-06