Mutagenetix > Incidental Mutation

Incidental Mutation 'R9682:Palm'

728637

Institutional Source

Beutler Lab

Gene Symbol

Palm

Ensembl Gene

ENSMUSG00000035863

Gene Name

paralemmin

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9682 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79629406-79656730 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79655039 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 266 (T266A)

Ref Sequence

ENSEMBL: ENSMUSP00000040596 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000046945
AA Change: T266A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000040596
Gene: ENSMUSG00000035863
AA Change: T266A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105379
AA Change: T222A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101018
Gene: ENSMUSG00000035863
AA Change: T222A

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

possibly damaging
Transcript: ENSMUST00000218857
AA Change: T60A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

Predicted Effect

probably benign
Transcript: ENSMUST00000219305

Predicted Effect

possibly damaging
Transcript: ENSMUST00000220365
AA Change: T104A

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

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

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,752,507 (GRCm39)	M493L	probably benign	Het
Abcb5	T	A	12: 118,896,328 (GRCm39)	I334F	probably damaging	Het
Acad9	C	T	3: 36,136,268 (GRCm39)	A351V	possibly damaging	Het
Adgrg6	A	T	10: 14,316,128 (GRCm39)	N536K	possibly damaging	Het
Alk	A	T	17: 72,182,058 (GRCm39)	L1322M	possibly damaging	Het
Atp2b1	T	C	10: 98,815,662 (GRCm39)	V102A	possibly damaging	Het
Atp8b3	T	C	10: 80,371,230 (GRCm39)	N48S	probably damaging	Het
B3gnt4	A	T	5: 123,649,516 (GRCm39)	I294L	probably benign	Het
Bnip3	A	G	7: 138,496,445 (GRCm39)	S88P	probably damaging	Het
Ccr2	A	G	9: 123,906,176 (GRCm39)	Y152C	probably damaging	Het
Cd28	T	C	1: 60,804,505 (GRCm39)	L161P	probably damaging	Het
Clcn4	C	T	7: 7,299,797 (GRCm39)	V11M	probably benign	Het
Clec4g	T	A	8: 3,757,713 (GRCm39)	S79C	unknown	Het
Cux1	A	T	5: 136,337,116 (GRCm39)	S799T	probably benign	Het
Cyp2t4	A	T	7: 26,857,611 (GRCm39)	H408L	probably damaging	Het
Cyp3a41a	A	T	5: 145,652,326 (GRCm39)	W58R	possibly damaging	Het
Dicer1	A	G	12: 104,672,484 (GRCm39)	V921A	probably damaging	Het
Dpysl3	A	G	18: 43,491,313 (GRCm39)	L268P	probably damaging	Het
Dus3l	G	A	17: 57,076,770 (GRCm39)	V626I	probably benign	Het
Epb41	C	A	4: 131,655,820 (GRCm39)	D337Y		Het
Fer1l6	A	G	15: 58,422,113 (GRCm39)	T104A	probably benign	Het
Fgd4	T	C	16: 16,302,202 (GRCm39)	T118A	probably benign	Het
Gabra4	T	A	5: 71,798,415 (GRCm39)	Y188F	possibly damaging	Het
Gm28168	A	T	1: 117,875,824 (GRCm39)	H151L	probably damaging	Het
Gm7995	A	G	14: 42,133,395 (GRCm39)	I91V		Het
Heg1	A	G	16: 33,541,298 (GRCm39)	E485G	probably benign	Het
Hirip3	A	G	7: 126,462,021 (GRCm39)	D73G	probably benign	Het
Igdcc3	A	G	9: 65,091,332 (GRCm39)	D684G	probably benign	Het
Kif15	A	G	9: 122,815,712 (GRCm39)	E502G	probably damaging	Het
Lrrc31	C	T	3: 30,743,423 (GRCm39)	V181I	probably damaging	Het
Lrrc7	G	T	3: 157,882,954 (GRCm39)	S446R	possibly damaging	Het
Lyst	A	G	13: 13,831,526 (GRCm39)	E1650G	probably benign	Het
Map3k6	A	G	4: 132,975,419 (GRCm39)	Y718C	possibly damaging	Het
Mta1	T	C	12: 113,095,384 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,553,874 (GRCm39)	G4140R	unknown	Het
Nfe2l1	A	C	11: 96,710,944 (GRCm39)	I428M	probably benign	Het
Nup210l	T	A	3: 90,051,469 (GRCm39)	Y538N	possibly damaging	Het
Nxpe4	G	A	9: 48,304,248 (GRCm39)	V112M	probably benign	Het
Or1e16	C	T	11: 73,286,025 (GRCm39)	M274I	probably benign	Het
Or4c112	T	A	2: 88,854,296 (GRCm39)	Q17L	possibly damaging	Het
Or4k40	T	A	2: 111,250,737 (GRCm39)	K186N	probably benign	Het
Or52d3	G	T	7: 104,229,434 (GRCm39)	A194S	probably damaging	Het
Or8g24	G	A	9: 38,989,874 (GRCm39)	H56Y	possibly damaging	Het
Pdzph1	T	G	17: 59,257,262 (GRCm39)	K925N	probably damaging	Het
Pfkfb3	G	T	2: 11,491,058 (GRCm39)	Q179K	probably benign	Het
Phtf1	A	G	3: 103,901,214 (GRCm39)	Q421R	possibly damaging	Het
Pip5k1b	A	T	19: 24,356,318 (GRCm39)	S207T	probably damaging	Het
Pkd2	T	C	5: 104,626,790 (GRCm39)	V324A	probably damaging	Het
Plcxd1	A	T	5: 110,251,477 (GRCm39)	N351I	probably damaging	Het
Prr14l	G	A	5: 32,988,023 (GRCm39)	P491S	probably benign	Het
Rxfp2	A	T	5: 149,966,564 (GRCm39)	R101*	probably null	Het
Saxo2	T	G	7: 82,292,881 (GRCm39)	K72T	probably benign	Het
Sema3b	T	A	9: 107,481,013 (GRCm39)	D108V	probably damaging	Het
Sh3gl2	A	G	4: 85,295,748 (GRCm39)	D150G	probably damaging	Het
Slc6a12	G	A	6: 121,340,704 (GRCm39)	M544I	probably benign	Het
Spag6l	T	C	16: 16,646,981 (GRCm39)		probably null	Het
Stat3	A	G	11: 100,785,593 (GRCm39)	F512L	probably benign	Het
Stk39	A	G	2: 68,196,449 (GRCm39)	S327P	probably damaging	Het
Tjp3	C	T	10: 81,109,645 (GRCm39)	E853K	probably benign	Het
Tmem30c	A	T	16: 57,111,180 (GRCm39)	S31T	probably benign	Het
Tpte	A	T	8: 22,841,493 (GRCm39)	D495V	probably damaging	Het
Ugt2b5	A	T	5: 87,287,522 (GRCm39)	M215K	probably damaging	Het
Vinac1	T	C	2: 128,875,529 (GRCm39)	S1246G	unknown	Het
Vsig2	T	C	9: 37,451,771 (GRCm39)	L135S	probably benign	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
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
R9717:Palm	UTSW	10	79,655,117 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCGGTGAGGAGACATTGTCC -3'
(R):5'- TCAGCCTTGATGGTGTCCTG -3'

Sequencing Primer
(F):5'- GCTGGAATGACAGATGTTTACCACC -3'
(R):5'- GCAGGCCCAGTACCTTCTTG -3'

Posted On

2022-10-06