Mutagenetix > Incidental Mutation

Incidental Mutation 'R0681:Palm'

208417

Institutional Source

Beutler Lab

Gene Symbol

Palm

Ensembl Gene

ENSMUSG00000035863

Gene Name

paralemmin

Synonyms

MMRRC Submission

038866-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0681 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

79629406-79656730 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 79655327 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 362 (T362P)

Ref Sequence

ENSEMBL: ENSMUSP00000040596 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046833] [ENSMUST00000046945] [ENSMUST00000105379] [ENSMUST00000169041] [ENSMUST00000218631] [ENSMUST00000218687] [ENSMUST00000218857] [ENSMUST00000220365] [ENSMUST00000219305]

AlphaFold

Q9Z0P4

Predicted Effect

probably benign
Transcript: ENSMUST00000046833

SMART Domains

Protein: ENSMUSP00000048893
Gene: ENSMUSG00000035852

Domain	Start	End	E-Value	Type
low complexity region	262	284	N/A	INTRINSIC
Pfam:AKAP2_C	294	643	2.2e-140	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000046945
AA Change: T362P

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863
AA Change: T362P

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
AA Change: T318P

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101018
Gene: ENSMUSG00000035863
AA Change: T318P

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: ENSMUST00000218687

Predicted Effect

probably benign
Transcript: ENSMUST00000218857

Predicted Effect

probably benign
Transcript: ENSMUST00000220365
AA Change: T200P

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000219305

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.3%

Validation Efficiency

100% (68/68)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl1	G	T	8: 84,661,279 (GRCm39)		probably benign	Het
Adgrv1	C	A	13: 81,676,649 (GRCm39)	D1341Y	probably damaging	Het
Ahdc1	T	C	4: 132,792,827 (GRCm39)	F1356S	possibly damaging	Het
Cdk13	A	G	13: 17,895,882 (GRCm39)		probably benign	Het
Cfhr1	A	T	1: 139,485,249 (GRCm39)	S66T	probably damaging	Het
Cldn6	C	A	17: 23,900,167 (GRCm39)	Q44K	probably damaging	Het
Cntnap5c	T	C	17: 58,612,550 (GRCm39)	V863A	possibly damaging	Het
Col6a4	T	A	9: 105,944,343 (GRCm39)	K1044*	probably null	Het
Cyb561d1	A	G	3: 108,106,583 (GRCm39)	V212A	probably benign	Het
Cyp1b1	A	G	17: 80,021,275 (GRCm39)	S156P	probably damaging	Het
Dock7	G	A	4: 98,904,941 (GRCm39)	H645Y	probably damaging	Het
Dpp3	T	C	19: 4,964,682 (GRCm39)	N542D	probably damaging	Het
Fastkd3	C	T	13: 68,740,047 (GRCm39)		probably benign	Het
Galnt10	T	A	11: 57,660,366 (GRCm39)	V268D	probably damaging	Het
Grb14	G	T	2: 64,747,631 (GRCm39)	A10E	probably damaging	Het
Grin2c	A	G	11: 115,140,479 (GRCm39)	V1213A	probably benign	Het
Grip1	C	T	10: 119,846,135 (GRCm39)	T570I	probably damaging	Het
Hif1an	T	C	19: 44,551,762 (GRCm39)	Y71H	probably benign	Het
Hsd17b11	T	A	5: 104,151,072 (GRCm39)	I221L	probably benign	Het
Htra1	A	T	7: 130,581,027 (GRCm39)		probably benign	Het
Igfn1	T	C	1: 135,891,591 (GRCm39)	E2308G	possibly damaging	Het
Mapk9	T	A	11: 49,760,072 (GRCm39)	S129T	probably damaging	Het
Med22	T	C	2: 26,800,391 (GRCm39)	T13A	probably benign	Het
Miox	C	T	15: 89,220,477 (GRCm39)	L189F	possibly damaging	Het
Mtus1	A	T	8: 41,446,554 (GRCm39)	L489Q	probably damaging	Het
Naprt	G	A	15: 75,765,481 (GRCm39)	P120S	probably damaging	Het
Nwd1	C	T	8: 73,388,965 (GRCm39)	P172L	probably damaging	Het
Ogfod2	A	G	5: 124,250,907 (GRCm39)	E62G	probably null	Het
Or13a1	A	T	6: 116,471,361 (GRCm39)	S264C	probably damaging	Het
Or5b12b	A	G	19: 12,861,910 (GRCm39)	T222A	probably damaging	Het
Or5b12b	T	C	19: 12,861,443 (GRCm39)	L66P	probably damaging	Het
Pcare	T	G	17: 72,056,509 (GRCm39)	H1056P	probably benign	Het
Pcdh8	T	C	14: 80,007,400 (GRCm39)	T388A	probably benign	Het
Pclo	A	G	5: 14,725,332 (GRCm39)	I1397V	unknown	Het
Per1	A	G	11: 68,992,027 (GRCm39)	E127G	probably damaging	Het
Plekha1	T	C	7: 130,502,353 (GRCm39)	V30A	possibly damaging	Het
Pramel24	A	T	4: 143,454,622 (GRCm39)	T307S	probably benign	Het
Rab26	A	G	17: 24,746,940 (GRCm39)		probably benign	Het
Rasal2	T	C	1: 156,984,750 (GRCm39)	D999G	possibly damaging	Het
Rfx5	C	T	3: 94,863,666 (GRCm39)	T105I	probably damaging	Het
Rrp1b	T	C	17: 32,279,369 (GRCm39)	S677P	probably damaging	Het
Scaf4	G	A	16: 90,046,582 (GRCm39)	P485S	unknown	Het
Scn5a	A	T	9: 119,368,706 (GRCm39)	M273K	probably damaging	Het
Sec22a	C	T	16: 35,181,926 (GRCm39)		probably null	Het
Slc10a6	C	A	5: 103,760,315 (GRCm39)	V227F	possibly damaging	Het
Slc39a3	C	G	10: 80,869,565 (GRCm39)	E31Q	probably benign	Het
Spsb1	C	T	4: 149,991,374 (GRCm39)	V65I	probably benign	Het
Tdrd7	T	A	4: 46,016,879 (GRCm39)	M673K	probably benign	Het
Trim8	C	A	19: 46,503,532 (GRCm39)	S361R	possibly damaging	Het
Ucp1	T	A	8: 84,021,936 (GRCm39)	M256K	possibly damaging	Het
Vmn1r46	A	T	6: 89,953,946 (GRCm39)	D265V	probably damaging	Het
Zbtb5	T	C	4: 44,993,787 (GRCm39)	I532M	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
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
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'- ACGAACTCATTCACAAGGCCGATG -3'
(R):5'- CCTGTGTAAACCTGCTGTGACCTG -3'

Sequencing Primer
(F):5'- CATGGTCTTCATGGGTTATCAGAAC -3'
(R):5'- TCCCCATTCTTAGAGGGGCTG -3'

Posted On

2014-06-25