Mutagenetix > Incidental Mutation

Incidental Mutation 'R8253:Palm'

640141

Institutional Source

Beutler Lab

Gene Symbol

Palm

Ensembl Gene

ENSMUSG00000035863

Gene Name

paralemmin

Synonyms

MMRRC Submission

067679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8253 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79629406-79656730 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 79643511 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 80 (K80*)

Ref Sequence

ENSEMBL: ENSMUSP00000040596 (fasta)

Gene Model

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

AlphaFold

Q9Z0P4

Predicted Effect

probably null
Transcript: ENSMUST00000046945
AA Change: K80*

SMART Domains

Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863
AA Change: K80*

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 null
Transcript: ENSMUST00000105379
AA Change: K80*

SMART Domains

Protein: ENSMUSP00000101018
Gene: ENSMUSG00000035863
AA Change: K80*

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	T	C	18: 61,874,702 (GRCm39)	E493G	probably benign	Het
Akr1a1	A	T	4: 116,493,840 (GRCm39)	D313E	probably damaging	Het
Ap1m1	T	A	8: 73,006,730 (GRCm39)	V242E	probably damaging	Het
Atad2b	T	A	12: 5,024,159 (GRCm39)	S670T	possibly damaging	Het
Atad2b	C	T	12: 5,024,160 (GRCm39)	S670L	probably benign	Het
Atp23	C	T	10: 126,704,543 (GRCm39)	G197S	probably benign	Het
Avpr1b	A	T	1: 131,537,154 (GRCm39)	T313S	probably benign	Het
Cblc	A	G	7: 19,520,157 (GRCm39)	I362T	probably damaging	Het
Ccdc171	T	A	4: 83,661,207 (GRCm39)	S1106T	probably damaging	Het
Cimap3	T	C	3: 105,905,683 (GRCm39)	M193V	probably benign	Het
Csde1	C	A	3: 102,946,037 (GRCm39)	N10K	probably damaging	Het
Csnk2a2	T	C	8: 96,215,005 (GRCm39)	Y24C		Het
Cyb5r4	G	T	9: 86,941,108 (GRCm39)	L420F	probably damaging	Het
Cyth4	A	G	15: 78,486,937 (GRCm39)	I22V	probably benign	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,979,841 (GRCm39)		probably null	Het
Dner	C	T	1: 84,512,598 (GRCm39)	G323E	probably damaging	Het
Elf1	T	C	14: 79,773,792 (GRCm39)	M1T	probably null	Het
Fam13c	T	C	10: 70,389,033 (GRCm39)	S520P	probably damaging	Het
Fhip1b	T	A	7: 105,028,294 (GRCm39)	H885L	possibly damaging	Het
Gabra2	A	G	5: 71,249,413 (GRCm39)	I30T	probably benign	Het
Gm6793	T	A	8: 112,741,640 (GRCm39)	M1L	probably benign	Het
Inpp5a	T	C	7: 139,061,556 (GRCm39)	L76P	probably damaging	Het
Itih5	T	C	2: 10,243,406 (GRCm39)	I381T	probably benign	Het
Lyrm7	T	C	11: 54,741,227 (GRCm39)	I36V	probably null	Het
Magi2	A	G	5: 20,814,305 (GRCm39)	I906V	probably benign	Het
Mup5	C	T	4: 61,752,811 (GRCm39)	A71T	probably benign	Het
Ndufaf6	G	A	4: 11,059,086 (GRCm39)	R248W	probably damaging	Het
Or52z14	A	T	7: 103,253,538 (GRCm39)	I226L	possibly damaging	Het
Or5p50	A	G	7: 107,421,776 (GRCm39)	I300T	probably damaging	Het
Pcyox1	C	T	6: 86,366,044 (GRCm39)	R390K	probably benign	Het
Pdx1	T	C	5: 147,207,459 (GRCm39)		probably null	Het
Pkp2	T	A	16: 16,086,406 (GRCm39)	V689D	probably damaging	Het
Prkar2a	G	T	9: 108,617,638 (GRCm39)	R232L	probably damaging	Het
Rasgrp4	C	T	7: 28,838,287 (GRCm39)	T87M	possibly damaging	Het
Ryr2	T	A	13: 11,842,439 (GRCm39)	Q486L	possibly damaging	Het
Shd	T	C	17: 56,283,295 (GRCm39)	V309A		Het
Skint7	C	T	4: 111,834,675 (GRCm39)	Q20*	probably null	Het
Slc35g1	C	A	19: 38,391,237 (GRCm39)	T173K	probably damaging	Het
Slit2	T	C	5: 48,433,013 (GRCm39)	F1073L	probably benign	Het
Snx18	T	A	13: 113,731,317 (GRCm39)	D559V	probably damaging	Het
Tbr1	G	T	2: 61,635,585 (GRCm39)	Q178H	probably benign	Het
Tmem145	T	G	7: 25,006,939 (GRCm39)	Y114D	probably damaging	Het
Ttc22	T	C	4: 106,495,717 (GRCm39)	L357P	probably damaging	Het
Uba2	T	C	7: 33,850,323 (GRCm39)	M377V	probably damaging	Het
Vps13c	T	A	9: 67,850,770 (GRCm39)	Y2242*	probably null	Het
Xdh	T	G	17: 74,225,377 (GRCm39)	Q475P	possibly damaging	Het
Zbtb42	T	G	12: 112,646,746 (GRCm39)	L307R	probably 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
R7977:Palm	UTSW	10	79,629,539 (GRCm39)	start gained	probably benign
R7987:Palm	UTSW	10	79,629,539 (GRCm39)	start gained	probably benign
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'- TCTGACCTGAGTCCCGATTCTAAC -3'
(R):5'- TCACACCTGCTCCTGTGTAG -3'

Sequencing Primer
(F):5'- GAGTCCCGATTCTAACTTTGCC -3'
(R):5'- CACCTGCTCCTGTGTAGGGATG -3'

Posted On

2020-07-28