Mutagenetix > Incidental Mutation

Incidental Mutation 'R7341:Palm'

569872

Institutional Source

Beutler Lab

Gene Symbol

Palm

Ensembl Gene

ENSMUSG00000035863

Gene Name

paralemmin

Synonyms

MMRRC Submission

045431-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7341 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

79629406-79656730 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79652697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 191 (T191A)

Ref Sequence

ENSEMBL: ENSMUSP00000040596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046945] [ENSMUST00000105379] [ENSMUST00000169041] [ENSMUST00000218631] [ENSMUST00000218857] [ENSMUST00000220365]

AlphaFold

Q9Z0P4

Predicted Effect

probably damaging
Transcript: ENSMUST00000046945
AA Change: T191A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863
AA Change: T191A

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: ENSMUST00000169041

SMART Domains

Protein: ENSMUSP00000130071
Gene: ENSMUSG00000035852

Domain	Start	End	E-Value	Type
low complexity region	262	284	N/A	INTRINSIC
Pfam:AKAP2_C	294	643	1.7e-150	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218631

Predicted Effect

probably benign
Transcript: ENSMUST00000218857

Predicted Effect

probably damaging
Transcript: ENSMUST00000220365
AA Change: T29A

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (92/92)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam3	T	A	8: 25,177,996 (GRCm39)	N639I	possibly damaging	Het
Adamtsl3	T	A	7: 82,206,082 (GRCm39)	C756S	probably damaging	Het
Arhgap31	C	T	16: 38,532,876 (GRCm39)		probably null	Het
Ascl4	G	A	10: 85,764,529 (GRCm39)	A59T	possibly damaging	Het
Ash1l	T	A	3: 88,889,066 (GRCm39)	I315N	possibly damaging	Het
Atp6v0d2	T	C	4: 19,887,330 (GRCm39)	D206G	possibly damaging	Het
Baz1b	T	A	5: 135,251,970 (GRCm39)	L923I	probably damaging	Het
Birc6	T	A	17: 74,919,069 (GRCm39)	N1966K	probably damaging	Het
Bod1l	T	C	5: 41,946,200 (GRCm39)	N3025S	probably benign	Het
Bub1b	C	A	2: 118,467,267 (GRCm39)	H863Q	possibly damaging	Het
C1rb	T	A	6: 124,554,411 (GRCm39)	Y397*	probably null	Het
Ccdc180	A	G	4: 45,898,644 (GRCm39)	E164G	possibly damaging	Het
Ccdc9	C	T	7: 16,014,552 (GRCm39)	V230M	probably damaging	Het
Cchcr1	C	A	17: 35,837,610 (GRCm39)	N437K	probably benign	Het
Cdhr2	T	A	13: 54,867,305 (GRCm39)	L408Q	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Chd1	T	C	17: 15,990,499 (GRCm39)	S1684P	probably damaging	Het
CN725425	A	G	15: 91,126,873 (GRCm39)	Y221C	possibly damaging	Het
Col4a2	T	C	8: 11,448,678 (GRCm39)	V66A	probably damaging	Het
Cpd	C	A	11: 76,737,779 (GRCm39)	R5L	unknown	Het
Cpeb4	C	T	11: 31,868,807 (GRCm39)	T422I	possibly damaging	Het
Cspg4b	G	T	13: 113,454,706 (GRCm39)	G251C		Het
Cyp1a1	G	T	9: 57,608,107 (GRCm39)	R245L	probably damaging	Het
Cyp4f39	A	G	17: 32,705,928 (GRCm39)	T340A	probably damaging	Het
Cyp4v3	A	T	8: 45,774,787 (GRCm39)	F122L	probably benign	Het
Drc1	T	A	5: 30,521,812 (GRCm39)	L728Q	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Ecpas	A	T	4: 58,809,415 (GRCm39)	V1653D	possibly damaging	Het
Ermp1	T	A	19: 29,623,654 (GRCm39)	H112L	probably benign	Het
Exoc8	T	C	8: 125,623,320 (GRCm39)	D349G	probably damaging	Het
Fam151a	T	A	4: 106,592,707 (GRCm39)	M63K	probably benign	Het
Fmo9	C	A	1: 166,504,115 (GRCm39)	G149V	probably damaging	Het
Fndc8	A	G	11: 82,789,603 (GRCm39)	T254A	possibly damaging	Het
Foxi3	G	A	6: 70,937,862 (GRCm39)	V365I	probably benign	Het
Frem2	C	T	3: 53,561,916 (GRCm39)	G864S	probably damaging	Het
Fstl5	T	A	3: 76,389,704 (GRCm39)		probably null	Het
Garnl3	T	A	2: 32,924,141 (GRCm39)	E247V	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gorasp1	T	A	9: 119,766,600 (GRCm39)		probably benign	Het
Hcar2	T	C	5: 124,002,541 (GRCm39)	N321D	possibly damaging	Het
Hoxb6	G	T	11: 96,190,395 (GRCm39)	M131I	probably damaging	Het
Kif13a	A	G	13: 46,980,221 (GRCm39)	V177A	probably damaging	Het
Limch1	C	T	5: 67,191,545 (GRCm39)	T794I	probably benign	Het
Lmbrd2	A	G	15: 9,165,906 (GRCm39)	Y260C	possibly damaging	Het
Lmo7	A	G	14: 102,122,948 (GRCm39)	N379S	probably benign	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Lrrc14	A	T	15: 76,598,711 (GRCm39)	E449V	probably damaging	Het
Lrrc8c	T	C	5: 105,755,133 (GRCm39)	Y303H	probably damaging	Het
Mecr	T	G	4: 131,570,986 (GRCm39)	V58G	probably null	Het
Med12l	T	A	3: 58,949,824 (GRCm39)	D193E	possibly damaging	Het
Moap1	T	C	12: 102,709,438 (GRCm39)	E37G	probably damaging	Het
Mrgprb2	T	A	7: 48,202,644 (GRCm39)	Y27F	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Ndufs5	A	T	4: 123,609,744 (GRCm39)	C43*	probably null	Het
Oaz2	A	T	9: 65,596,183 (GRCm39)	D83V		Het
Or2t29	A	T	11: 58,433,533 (GRCm39)	Y269*	probably null	Het
Or5ac22	T	A	16: 59,135,512 (GRCm39)	N86I	possibly damaging	Het
Pclo	C	A	5: 14,725,850 (GRCm39)	D1569E	unknown	Het
Ppid	T	A	3: 79,507,604 (GRCm39)	D264E	probably benign	Het
Ppp1r3a	A	G	6: 14,718,749 (GRCm39)	S722P	probably damaging	Het
Ranbp2	A	G	10: 58,321,619 (GRCm39)	S2639G	possibly damaging	Het
Rbak	T	C	5: 143,161,827 (GRCm39)	T68A	probably benign	Het
Rbm15b	C	T	9: 106,762,246 (GRCm39)	G641R	probably benign	Het
Rgsl1	A	G	1: 153,669,591 (GRCm39)	I265T	probably benign	Het
Rmdn1	T	A	4: 19,586,837 (GRCm39)	Y98*	probably null	Het
Sfxn3	T	G	19: 45,037,701 (GRCm39)	N52K	probably benign	Het
Slc17a3	G	T	13: 24,030,867 (GRCm39)	G182*	probably null	Het
Slc29a3	A	T	10: 60,586,437 (GRCm39)	Y10N	probably benign	Het
Slc43a1	T	C	2: 84,693,278 (GRCm39)	Y577H	probably damaging	Het
Smarcd3	T	A	5: 24,800,435 (GRCm39)	I210F	possibly damaging	Het
Snapc4	A	T	2: 26,259,273 (GRCm39)	S626T	probably benign	Het
Sp5	T	A	2: 70,307,041 (GRCm39)	L242*	probably null	Het
Spata25	C	G	2: 164,669,582 (GRCm39)	G143A	probably damaging	Het
Spata6	T	A	4: 111,625,935 (GRCm39)	Y101*	probably null	Het
Tdp2	T	G	13: 25,016,059 (GRCm39)	S89A	probably benign	Het
Tlr6	T	C	5: 65,110,972 (GRCm39)	E645G	probably benign	Het
Tmem209	T	C	6: 30,494,794 (GRCm39)	I355V	probably benign	Het
Trappc8	A	T	18: 20,985,704 (GRCm39)	Y646N	probably damaging	Het
Tspoap1	A	G	11: 87,657,205 (GRCm39)	N399S	probably damaging	Het
Ube4b	A	G	4: 149,427,458 (GRCm39)	Y897H	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Usp9y	A	T	Y: 1,315,759 (GRCm39)		probably null	Het
Vmn2r1	T	C	3: 64,012,877 (GRCm39)	*913Q	probably null	Het
Vmn2r12	T	A	5: 109,234,113 (GRCm39)	T700S	possibly damaging	Het
Vmn2r12	C	T	5: 109,239,811 (GRCm39)	A251T	possibly damaging	Het
Wdr70	A	C	15: 7,953,725 (GRCm39)	F389V	possibly damaging	Het
Wdr91	A	T	6: 34,868,395 (GRCm39)	M442K	possibly damaging	Het
Ydjc	T	C	16: 16,968,762 (GRCm39)	C234R	probably benign	Het
Zfp87	A	G	13: 74,520,467 (GRCm39)	Y204H	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
R7977:Palm	UTSW	10	79,629,539 (GRCm39)	start gained	probably benign
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'- ATCCCAGTGTGCTCAGCATC -3'
(R):5'- GGCTGAACCTGCCTCTAGATTTC -3'

Sequencing Primer
(F):5'- AGTGTGCTCAGCATCCCTGG -3'
(R):5'- AGATTTCACCTCAGTGCTCAG -3'

Posted On

2019-09-13