Mutagenetix > Incidental Mutation

Incidental Mutation 'R9509:Palb2'

718006

Institutional Source

Beutler Lab

Gene Symbol

Palb2

Ensembl Gene

ENSMUSG00000044702

Gene Name

partner and localizer of BRCA2

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9509 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121706485-121732203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121727399 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 157 (K157M)

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

Domain	Start	End	E-Value	Type
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

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: K157M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: K157M

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

possibly damaging
Transcript: ENSMUST00000106468
AA Change: K157M

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: K157M

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
AA Change: K157M

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
AA Change: K157M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176193

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	TTCCTCCTCCTCCTCCTCCTCC	TTCCTCCTCCTCCTCCTCC	3: 137,771,595 (GRCm39)		probably benign	Het
Acan	C	T	7: 78,740,768 (GRCm39)	P378L	probably damaging	Het
Akap6	A	G	12: 53,189,021 (GRCm39)	D2145G	probably damaging	Het
Akap9	A	T	5: 4,096,349 (GRCm39)	D2408V	probably benign	Het
Apol10a	C	A	15: 77,372,968 (GRCm39)	Y201*	probably null	Het
Arhgef4	T	C	1: 34,762,772 (GRCm39)	I676T	unknown	Het
Capn13	T	C	17: 73,644,446 (GRCm39)	H361R	probably benign	Het
Ccdc88a	G	A	11: 29,414,143 (GRCm39)	V894I	probably benign	Het
Chd4	T	A	6: 125,099,485 (GRCm39)	L1655Q	possibly damaging	Het
Chi3l1	G	A	1: 134,116,413 (GRCm39)	E307K	probably damaging	Het
Dhfr	T	A	13: 92,504,739 (GRCm39)	I139N	probably damaging	Het
Dock8	A	G	19: 25,072,985 (GRCm39)	S422G	probably benign	Het
Dspp	C	A	5: 104,325,657 (GRCm39)	D673E	unknown	Het
Dst	G	T	1: 33,947,465 (GRCm39)	W38L	possibly damaging	Het
Dynlt1b	A	T	17: 6,702,415 (GRCm39)	E26D	probably benign	Het
Dysf	A	T	6: 84,187,779 (GRCm39)	Y2059F	probably damaging	Het
Efcab5	G	A	11: 76,994,977 (GRCm39)	S1198F	possibly damaging	Het
Erp44	T	C	4: 48,208,750 (GRCm39)	I237V	probably benign	Het
Exosc2	G	A	2: 31,564,755 (GRCm39)	V107I	probably benign	Het
Fat2	A	G	11: 55,200,713 (GRCm39)	V787A	possibly damaging	Het
Fbn2	C	G	18: 58,247,550 (GRCm39)	G448A	probably benign	Het
Fbxw21	A	G	9: 108,977,217 (GRCm39)	V164A	possibly damaging	Het
Gabpa	G	A	16: 84,649,395 (GRCm39)	V201I	possibly damaging	Het
Gm12253	G	A	11: 58,330,771 (GRCm39)	V177M	probably benign	Het
Il2rb	C	A	15: 78,374,416 (GRCm39)	W84L	probably damaging	Het
Kank4	T	A	4: 98,663,104 (GRCm39)	T695S	possibly damaging	Het
Klhl29	T	C	12: 5,190,629 (GRCm39)	Q122R	probably damaging	Het
L3mbtl1	A	G	2: 162,809,303 (GRCm39)	E670G	probably damaging	Het
Lifr	A	G	15: 7,188,955 (GRCm39)	Y112C	probably damaging	Het
Lins1	C	T	7: 66,358,119 (GRCm39)	Q85*	probably null	Het
Lpcat1	T	A	13: 73,642,951 (GRCm39)	V175E	probably damaging	Het
Mdm1	T	C	10: 117,982,730 (GRCm39)	S122P	probably damaging	Het
Mtfmt	C	T	9: 65,343,147 (GRCm39)	R18C	probably benign	Het
Mylk4	T	C	13: 32,904,543 (GRCm39)	N197S	probably benign	Het
Neurl4	T	A	11: 69,792,971 (GRCm39)	L83*	probably null	Het
Nlrc3	T	C	16: 3,782,680 (GRCm39)	D259G	probably damaging	Het
Nsf	A	T	11: 103,754,074 (GRCm39)	D487E	probably benign	Het
Or2n1e	A	G	17: 38,586,281 (GRCm39)	I206M	probably benign	Het
Or2y1	A	G	11: 49,385,476 (GRCm39)	I39V	probably benign	Het
Or5p50	T	A	7: 107,422,440 (GRCm39)	T79S	probably benign	Het
Pbrm1	T	C	14: 30,806,914 (GRCm39)	S1114P	probably damaging	Het
Pdia6	T	A	12: 17,330,989 (GRCm39)	M364K	probably damaging	Het
Pf4	G	T	5: 90,921,048 (GRCm39)	G83W	probably damaging	Het
Pibf1	T	C	14: 99,338,721 (GRCm39)	M79T	probably benign	Het
Pip4p2	T	A	4: 14,892,485 (GRCm39)	C116*	probably null	Het
Polr3b	T	G	10: 84,467,650 (GRCm39)	Y77D	probably damaging	Het
Pomt2	T	A	12: 87,184,802 (GRCm39)	H208L	possibly damaging	Het
Pprc1	A	T	19: 46,051,838 (GRCm39)	K456M	unknown	Het
Rasgef1a	A	T	6: 118,061,391 (GRCm39)	K119*	probably null	Het
Rbbp6	T	A	7: 122,597,791 (GRCm39)	Y701N	unknown	Het
Relch	A	G	1: 105,614,704 (GRCm39)	E216G	probably damaging	Het
Reln	A	T	5: 22,549,198 (GRCm39)	V70E	possibly damaging	Het
Rgs17	T	C	10: 5,812,576 (GRCm39)	N41S	probably benign	Het
Rhbdf1	A	T	11: 32,165,055 (GRCm39)	I106N	possibly damaging	Het
Robo1	T	A	16: 72,759,167 (GRCm39)	N393K	probably damaging	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,127 (GRCm39)		probably benign	Het
Scart2	T	A	7: 139,879,644 (GRCm39)	Y1093*	probably null	Het
Scnn1a	A	T	6: 125,319,604 (GRCm39)	D495V	probably damaging	Het
Serpinf2	G	A	11: 75,328,895 (GRCm39)	P45L	probably benign	Het
Setdb1	A	C	3: 95,261,900 (GRCm39)	I122S	possibly damaging	Het
Slc4a9	A	T	18: 36,668,443 (GRCm39)	M701L	probably damaging	Het
Spata31h1	A	T	10: 82,132,229 (GRCm39)	N260K	probably benign	Het
Supv3l1	T	C	10: 62,265,411 (GRCm39)	T710A	probably benign	Het
Syne1	A	T	10: 5,298,927 (GRCm39)		probably null	Het
Tenm3	A	T	8: 48,766,292 (GRCm39)	Y743*	probably null	Het
Tgm2	A	T	2: 157,969,210 (GRCm39)	Y388*	probably null	Het
Tor3a	A	G	1: 156,483,499 (GRCm39)	S308P	possibly damaging	Het
Trim12a	T	C	7: 103,953,551 (GRCm39)	K187E	probably benign	Het
Trpc1	C	T	9: 95,625,249 (GRCm39)		probably null	Het
Uaca	C	T	9: 60,779,498 (GRCm39)	T1295M	possibly damaging	Het
Ush2a	T	A	1: 188,648,440 (GRCm39)	Y4682N	probably damaging	Het
Vldlr	A	G	19: 27,221,687 (GRCm39)	N684S	probably benign	Het
Vmn2r72	T	A	7: 85,404,075 (GRCm39)	I39L	probably benign	Het
Vps13b	A	T	15: 35,841,457 (GRCm39)	M2496L	possibly damaging	Het
Zbtb5	C	T	4: 44,994,332 (GRCm39)	V351M	probably damaging	Het
Zeb2	T	A	2: 44,887,876 (GRCm39)	T394S	possibly damaging	Het
Zfp352	A	G	4: 90,112,943 (GRCm39)	E361G	probably damaging	Het
Zfp54	C	A	17: 21,654,629 (GRCm39)	Y374*	probably null	Het
Zfp869	C	A	8: 70,159,596 (GRCm39)	G326W	probably damaging	Het
Zfyve28	C	T	5: 34,354,892 (GRCm39)	A806T	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
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
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'- TACCCTCTCCAATTCCTGTAACAAG -3'
(R):5'- TTGCAAAGCAACCATCTGGATG -3'

Sequencing Primer
(F):5'- CCAATTCCTGTAACAAGTGCTGGAG -3'
(R):5'- CTCTCAGATACTTGATGTTGAACC -3'

Posted On

2022-07-18