Mutagenetix > Incidental Mutation

Incidental Mutation 'R7977:Palm'

650976

Institutional Source

Beutler Lab

Gene Symbol

Palm

Ensembl Gene

ENSMUSG00000035863

Gene Name

paralemmin

Synonyms

MMRRC Submission

046020-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7977 (G1)

Quality Score

141.008

Status

Not validated

Chromosome

Chromosomal Location

79629406-79656730 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 79629539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152010 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020573] [ENSMUST00000046945] [ENSMUST00000105379] [ENSMUST00000169684] [ENSMUST00000218631]

AlphaFold

Q9Z0P4

Predicted Effect

probably benign
Transcript: ENSMUST00000020573

SMART Domains

Protein: ENSMUSP00000020573
Gene: ENSMUSG00000020323

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
Tryp_SPc	39	264	1.53e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000046945

SMART Domains

Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
Pfam:Paralemmin	71	383	4.2e-126	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105379

SMART Domains

Protein: ENSMUSP00000101018
Gene: ENSMUSG00000035863

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
Pfam:Paralemmin	70	339	1.5e-123	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169684

SMART Domains

Protein: ENSMUSP00000132215
Gene: ENSMUSG00000020323

Domain	Start	End	E-Value	Type
signal peptide	1	37	N/A	INTRINSIC
Tryp_SPc	39	264	1.53e-70	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000218631

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the paralemmin protein family. The product of this gene is a prenylated and palmitoylated phosphoprotein that associates with the cytoplasmic face of plasma membranes and is implicated in plasma membrane dynamics in neurons and other cell types. Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	G	T	2: 32,464,317 (GRCm39)	Q161K	unknown	Het
Acsl5	T	C	19: 55,266,405 (GRCm39)		probably null	Het
Adgre1	T	A	17: 57,754,987 (GRCm39)	I695N	possibly damaging	Het
Ank2	T	C	3: 126,739,356 (GRCm39)	D2176G	unknown	Het
Atp6v0a2	G	A	5: 124,797,050 (GRCm39)	G810D	probably damaging	Het
Bod1l	A	C	5: 41,952,413 (GRCm39)	N2868K	probably damaging	Het
Brd7	T	C	8: 89,060,769 (GRCm39)	T526A	probably benign	Het
C9	T	A	15: 6,496,943 (GRCm39)	Y213*	probably null	Het
Card6	T	A	15: 5,130,007 (GRCm39)	N463I	probably damaging	Het
Ccdc81	T	C	7: 89,525,319 (GRCm39)	Y485C	probably damaging	Het
Celsr1	A	G	15: 85,917,194 (GRCm39)	F260L	probably damaging	Het
Dnah8	A	G	17: 30,963,498 (GRCm39)	D2304G	probably damaging	Het
Dnase1	A	G	16: 3,855,834 (GRCm39)	D55G	probably damaging	Het
Ecsit	C	A	9: 21,984,780 (GRCm39)	R296L	probably damaging	Het
Entpd8	A	G	2: 24,974,778 (GRCm39)	D403G	probably damaging	Het
Epha2	C	A	4: 141,035,791 (GRCm39)	Q76K	probably damaging	Het
Exoc1	T	A	5: 76,691,432 (GRCm39)	V252E	probably damaging	Het
Fmnl3	T	A	15: 99,225,979 (GRCm39)	H225L	possibly damaging	Het
Gm4565	A	C	7: 22,282,812 (GRCm39)	M2R	probably benign	Het
Gpr146	G	T	5: 139,378,440 (GRCm39)	A81S	possibly damaging	Het
Heg1	C	A	16: 33,541,100 (GRCm39)	S419*	probably null	Het
Hps5	A	C	7: 46,418,475 (GRCm39)	I865S	probably benign	Het
Hsp90ab1	A	C	17: 45,882,532 (GRCm39)	I54S	probably damaging	Het
Hyal4	T	G	6: 24,763,865 (GRCm39)	M342R	probably damaging	Het
Itgal	A	G	7: 126,927,470 (GRCm39)	T987A	possibly damaging	Het
Kat6b	A	G	14: 21,719,931 (GRCm39)	T1428A	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lmtk2	A	G	5: 144,111,959 (GRCm39)	D893G	probably benign	Het
Myo3b	A	G	2: 70,161,277 (GRCm39)	T1174A	probably benign	Het
Naf1	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	CGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGA	8: 67,313,146 (GRCm39)		probably benign	Het
Nsun5	G	A	5: 135,404,534 (GRCm39)	R424H	probably damaging	Het
Oacyl	A	G	18: 65,831,462 (GRCm39)	E33G	probably benign	Het
Or6c66	T	C	10: 129,461,838 (GRCm39)	I31V	probably benign	Het
Or7d10	T	C	9: 19,831,610 (GRCm39)	F35S	possibly damaging	Het
Papln	A	G	12: 83,822,156 (GRCm39)	E337G	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Setd1b	A	G	5: 123,285,743 (GRCm39)	D263G	unknown	Het
Slc10a7	T	A	8: 79,423,843 (GRCm39)	F202I	probably benign	Het
Smpd3	T	C	8: 106,986,526 (GRCm39)	I455V	probably benign	Het
Snip1	G	T	4: 124,960,732 (GRCm39)	G63W	probably damaging	Het
Sorl1	T	A	9: 41,888,857 (GRCm39)	Y1981F	probably damaging	Het
Tagln2	A	G	1: 172,332,820 (GRCm39)	T36A	probably benign	Het
Tnxb	T	C	17: 34,929,194 (GRCm39)	S2746P	possibly damaging	Het
Tob2	G	A	15: 81,735,681 (GRCm39)	P96L	probably damaging	Het
Triobp	T	A	15: 78,885,744 (GRCm39)	Y1816N	probably damaging	Het
Trpc3	A	G	3: 36,698,318 (GRCm39)	I647T	probably benign	Het
Ttn	A	G	2: 76,721,905 (GRCm39)	S6600P	unknown	Het
Vmn1r200	A	T	13: 22,580,025 (GRCm39)	Y276F	possibly damaging	Het
Vmn1r230	T	C	17: 21,067,159 (GRCm39)	I116T	probably benign	Het
Vmn1r26	A	T	6: 57,985,264 (GRCm39)	Y308*	probably null	Het
Vmn2r16	C	T	5: 109,488,015 (GRCm39)	T296I	probably damaging	Het
Wdfy2	A	G	14: 63,189,380 (GRCm39)	D283G	possibly damaging	Het

Other mutations in Palm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01120:Palm	APN	10	79,652,621 (GRCm39)	splice site	probably benign
IGL03080:Palm	APN	10	79,654,951 (GRCm39)	missense	probably damaging	1.00
IGL03143:Palm	APN	10	79,652,617 (GRCm39)	splice site	probably benign
R0681:Palm	UTSW	10	79,655,327 (GRCm39)	missense	probably benign	0.35
R1476:Palm	UTSW	10	79,651,021 (GRCm39)	missense	possibly damaging	0.50
R1534:Palm	UTSW	10	79,652,737 (GRCm39)	missense	probably damaging	1.00
R3439:Palm	UTSW	10	79,652,618 (GRCm39)	splice site	probably benign
R4327:Palm	UTSW	10	79,643,520 (GRCm39)	missense	probably benign	0.31
R4328:Palm	UTSW	10	79,643,520 (GRCm39)	missense	probably benign	0.31
R4329:Palm	UTSW	10	79,643,520 (GRCm39)	missense	probably benign	0.31
R6586:Palm	UTSW	10	79,645,365 (GRCm39)	missense	probably benign	0.07
R7341:Palm	UTSW	10	79,652,697 (GRCm39)	missense	probably damaging	0.98
R7987:Palm	UTSW	10	79,629,539 (GRCm39)	start gained	probably benign
R8253:Palm	UTSW	10	79,643,511 (GRCm39)	nonsense	probably null
R8496:Palm	UTSW	10	79,642,485 (GRCm39)	missense	probably benign	0.33
R9098:Palm	UTSW	10	79,654,988 (GRCm39)	missense	probably benign	0.03
R9682:Palm	UTSW	10	79,655,039 (GRCm39)	missense	possibly damaging	0.90
R9717:Palm	UTSW	10	79,655,117 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATGGAGAACTCAGGGTGAC -3'
(R):5'- AGAGATGTGTGGTGCAACC -3'

Sequencing Primer
(F):5'- TGACTGGGTCCGGGATCTC -3'
(R):5'- TGTGGTGCAACCCAGGTG -3'

Posted On

2020-09-15