Mutagenetix > Incidental Mutation

Incidental Mutation 'R8927:Palb2'

690158

Institutional Source

Beutler Lab

Gene Symbol

Palb2

Ensembl Gene

ENSMUSG00000044702

Gene Name

partner and localizer of BRCA2

Synonyms

MMRRC Submission

068771-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8927 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121706485-121732203 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121723821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 643 (C643S)

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: C643S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000095675
Gene: ENSMUSG00000044702
AA Change: C643S

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: C643S

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000102076
Gene: ENSMUSG00000044702
AA Change: C643S

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: C280S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102077
Gene: ENSMUSG00000044702
AA Change: C280S

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: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (78/79)

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,867,367 (GRCm39)	H198Q	probably damaging	Het
Abcb9	T	C	5: 124,221,706 (GRCm39)	T223A	probably benign	Het
Actc1	T	A	2: 113,880,881 (GRCm39)	K115*	probably null	Het
Angptl2	G	A	2: 33,132,316 (GRCm39)	D308N	probably benign	Het
Arl4d	A	C	11: 101,557,892 (GRCm39)	Q139H	possibly damaging	Het
Aspm	T	A	1: 139,418,125 (GRCm39)	C2951*	probably null	Het
Atp23	A	T	10: 126,723,362 (GRCm39)	*247R	probably null	Het
B3gnt7	T	A	1: 86,232,839 (GRCm39)	S28R	probably benign	Het
Bmp7	C	T	2: 172,721,211 (GRCm39)	R288H	probably damaging	Het
Bsdc1	G	T	4: 129,355,439 (GRCm39)		probably benign	Het
Capn13	T	C	17: 73,631,761 (GRCm39)		probably null	Het
Ccdc146	T	C	5: 21,538,060 (GRCm39)	E88G	probably damaging	Het
Ccdc73	C	A	2: 104,822,542 (GRCm39)	D2E		Het
Cdc5l	C	A	17: 45,721,839 (GRCm39)	R477L		Het
Cdh22	T	A	2: 164,965,504 (GRCm39)	H529L	possibly damaging	Het
Chchd3	T	A	6: 32,780,951 (GRCm39)	E178D	probably benign	Het
Ciz1	A	T	2: 32,257,512 (GRCm39)	R186*	probably null	Het
Col4a2	A	G	8: 11,475,543 (GRCm39)		probably null	Het
Copa	T	A	1: 171,931,737 (GRCm39)	H329Q	probably null	Het
Dcaf7	A	G	11: 105,942,752 (GRCm39)	D233G	probably damaging	Het
Dclk2	G	T	3: 86,739,048 (GRCm39)	P317Q	probably damaging	Het
Dgat2	T	C	7: 98,818,710 (GRCm39)	Y90C	probably benign	Het
Dsc3	A	T	18: 20,107,234 (GRCm39)	H462Q	probably benign	Het
Fam151a	T	A	4: 106,603,242 (GRCm39)		probably benign	Het
Fn1	T	C	1: 71,638,535 (GRCm39)	N1998S	probably benign	Het
Fpr2	T	C	17: 18,113,724 (GRCm39)	L240S	possibly damaging	Het
Fzd9	A	T	5: 135,278,589 (GRCm39)	M432K	probably damaging	Het
Gm5862	T	A	5: 26,226,678 (GRCm39)	I75F	probably damaging	Het
Gpr45	T	A	1: 43,072,314 (GRCm39)	V319D	probably damaging	Het
H4c11	T	C	13: 21,919,525 (GRCm39)	V87A	possibly damaging	Het
Igfn1	T	A	1: 135,905,984 (GRCm39)	R275W	probably damaging	Het
Inafm1	G	A	7: 16,006,980 (GRCm39)	A79V	unknown	Het
Itfg1	C	T	8: 86,567,420 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,356,535 (GRCm39)		probably null	Het
Klhl35	T	G	7: 99,120,221 (GRCm39)	I366S	probably damaging	Het
Lysmd1	A	T	3: 95,045,831 (GRCm39)	I223F	probably damaging	Het
Mrps30	A	G	13: 118,523,205 (GRCm39)	L189P	probably damaging	Het
Ms4a4d	A	C	19: 11,533,574 (GRCm39)	T152P	probably benign	Het
Mtcl1	A	T	17: 66,755,628 (GRCm39)	I238K	probably benign	Het
Musk	T	C	4: 58,301,638 (GRCm39)	I132T	probably damaging	Het
Myh2	A	T	11: 67,079,509 (GRCm39)	M989L	probably benign	Het
Myh8	G	A	11: 67,174,081 (GRCm39)	R172H	probably benign	Het
Nt5c1a	C	T	4: 123,102,281 (GRCm39)	T69M	possibly damaging	Het
Nuak2	T	A	1: 132,255,916 (GRCm39)	D196E	probably damaging	Het
Or52h7	A	T	7: 104,214,229 (GRCm39)	H267L	probably damaging	Het
Or5ap2	A	T	2: 85,679,918 (GRCm39)	I41F	possibly damaging	Het
Or5t7	T	C	2: 86,507,630 (GRCm39)	T16A	probably benign	Het
Or8k53	T	C	2: 86,178,090 (GRCm39)	T7A	possibly damaging	Het
Or8s10	A	G	15: 98,336,519 (GRCm39)		probably benign	Het
Pde5a	T	A	3: 122,633,249 (GRCm39)	I706N	probably damaging	Het
Pdlim4	T	C	11: 53,950,790 (GRCm39)	R100G	probably benign	Het
Pip5k1c	T	A	10: 81,128,906 (GRCm39)	V5E	possibly damaging	Het
Pira1	A	C	7: 3,742,358 (GRCm39)	N56K	probably benign	Het
Plekhm1	A	G	11: 103,268,039 (GRCm39)	V644A	probably benign	Het
Plk2	T	G	13: 110,535,750 (GRCm39)	V524G	probably damaging	Het
Ppl	T	A	16: 4,905,474 (GRCm39)	N1607I	probably benign	Het
Prag1	T	G	8: 36,614,360 (GRCm39)	V1304G	probably damaging	Het
Prex1	C	T	2: 166,426,995 (GRCm39)	V1077M	probably damaging	Het
Prmt6	T	C	3: 110,158,248 (GRCm39)	S14G	probably benign	Het
Psrc1	T	G	3: 108,293,973 (GRCm39)	S263R	probably damaging	Het
Qrfprl	C	A	6: 65,358,597 (GRCm39)	S107*	probably null	Het
Rbp7	A	T	4: 149,537,958 (GRCm39)	L36*	probably null	Het
Rgs12	G	T	5: 35,123,633 (GRCm39)	W472L	possibly damaging	Het
Rrp8	C	A	7: 105,384,073 (GRCm39)	C143F	possibly damaging	Het
Sart1	T	C	19: 5,438,529 (GRCm39)	S43G	probably benign	Het
Setx	A	G	2: 29,016,971 (GRCm39)	T25A	possibly damaging	Het
Skint5	G	A	4: 113,341,099 (GRCm39)	T1414I	probably benign	Het
Sorbs2	T	A	8: 46,248,952 (GRCm39)	S734R	probably damaging	Het
Spata31g1	A	T	4: 42,972,251 (GRCm39)	Y528F	probably benign	Het
Spon1	T	C	7: 113,629,592 (GRCm39)		probably null	Het
Sptbn1	C	T	11: 30,088,962 (GRCm39)	V767I	probably damaging	Het
Srf	T	C	17: 46,860,095 (GRCm39)	I477V	probably damaging	Het
Tanc2	A	G	11: 105,701,331 (GRCm39)	Y282C	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tdpoz6	T	A	3: 93,599,950 (GRCm39)	T140S	probably benign	Het
Tfap4	T	C	16: 4,369,218 (GRCm39)	D134G	probably damaging	Het
Tmem200c	A	G	17: 69,148,733 (GRCm39)	T439A	probably benign	Het
Tmem63b	A	T	17: 45,975,908 (GRCm39)	M515K	probably damaging	Het
Tnc	A	T	4: 63,925,595 (GRCm39)	N980K	probably damaging	Het
Ttc23l	T	A	15: 10,530,720 (GRCm39)	L297F	probably damaging	Het
Vinac1	A	G	2: 128,882,789 (GRCm39)	S76P		Het
Vmn1r170	A	G	7: 23,305,814 (GRCm39)	N72S	possibly damaging	Het
Vmn2r8	T	C	5: 108,950,131 (GRCm39)	M239V		Het
Vopp1	A	G	6: 57,731,578 (GRCm39)	F138L	probably damaging	Het
Vps41	T	A	13: 18,929,501 (GRCm39)	F79I	probably benign	Het
Zfp317	T	C	9: 19,552,521 (GRCm39)	M1T	probably null	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
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'- CAGGCTGAACTGTTGCACTG -3'
(R):5'- AACTGTGGTGAGAGGCTTCC -3'

Sequencing Primer
(F):5'- CAGGCTGAACTGTTGCACTGTTTAC -3'
(R):5'- AGGAAACCATGCTGCTCTG -3'

Posted On

2021-11-19