Mutagenetix > Incidental Mutation

Incidental Mutation 'R9684:Pnma1'

728759

Institutional Source

Beutler Lab

Gene Symbol

Pnma1

Ensembl Gene

ENSMUSG00000054383

Gene Name

paraneoplastic antigen MA1

Synonyms

5730402C15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9684 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

84192905-84195263 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84193941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 254 (Y254C)

Ref Sequence

ENSEMBL: ENSMUSP00000060783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046266] [ENSMUST00000061425] [ENSMUST00000110294] [ENSMUST00000123491]

AlphaFold

Q8C1C8

Predicted Effect

probably benign
Transcript: ENSMUST00000046266

SMART Domains

Protein: ENSMUSP00000048120
Gene: ENSMUSG00000042507

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	64	75	N/A	INTRINSIC
low complexity region	107	117	N/A	INTRINSIC
low complexity region	124	132	N/A	INTRINSIC
low complexity region	247	265	N/A	INTRINSIC
low complexity region	377	388	N/A	INTRINSIC
low complexity region	556	567	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
ELM2	715	772	6.76e-14	SMART
low complexity region	798	814	N/A	INTRINSIC
SANT	821	869	1.44e-5	SMART
low complexity region	906	926	N/A	INTRINSIC
low complexity region	942	956	N/A	INTRINSIC
ZnF_C2H2	1030	1052	4.72e-2	SMART
low complexity region	1053	1082	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061425
AA Change: Y254C

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000060783
Gene: ENSMUSG00000054383
AA Change: Y254C

Domain	Start	End	E-Value	Type
Pfam:PNMA	1	326	6e-143	PFAM
low complexity region	330	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110294

SMART Domains

Protein: ENSMUSP00000105923
Gene: ENSMUSG00000042507

Domain	Start	End	E-Value	Type
low complexity region	28	39	N/A	INTRINSIC
low complexity region	64	75	N/A	INTRINSIC
low complexity region	107	117	N/A	INTRINSIC
low complexity region	124	132	N/A	INTRINSIC
low complexity region	247	265	N/A	INTRINSIC
low complexity region	377	388	N/A	INTRINSIC
low complexity region	556	567	N/A	INTRINSIC
low complexity region	643	654	N/A	INTRINSIC
ELM2	715	772	6.76e-14	SMART
low complexity region	798	814	N/A	INTRINSIC
SANT	821	869	1.44e-5	SMART
low complexity region	906	926	N/A	INTRINSIC
low complexity region	942	956	N/A	INTRINSIC
ZnF_C2H2	1030	1052	4.72e-2	SMART
low complexity region	1053	1082	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123491

SMART Domains

Protein: ENSMUSP00000121038
Gene: ENSMUSG00000042523

Domain	Start	End	E-Value	Type
Pfam:LRR_4	93	135	1.4e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a neuron- and testis-specific protein that is also expressed in some paraneoplastic syndromes affecting the nervous system. Some patients with neurologic disorders develop antibodies against the protein encoded by this gene. The identification of the antineuronal antibodies in the sera of these patients has facilitated the diagnosis of paraneoplastic neurological disorders and the early detection of the associated tumors. [provided by RefSeq, Feb 2014]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,283,307 (GRCm39)	D3243V	probably damaging	Het
Acot3	T	C	12: 84,105,650 (GRCm39)	L281P	probably benign	Het
Asb4	A	C	6: 5,398,296 (GRCm39)	H87P	probably damaging	Het
Ccnt1	A	T	15: 98,446,566 (GRCm39)	Y175N	probably damaging	Het
Cdh11	A	G	8: 103,391,327 (GRCm39)	V303A	probably benign	Het
Cdk19	T	A	10: 40,351,594 (GRCm39)	M297K	probably damaging	Het
Ces2c	A	C	8: 105,574,699 (GRCm39)	D52A	probably benign	Het
Cox10	C	T	11: 63,855,207 (GRCm39)	R358H	probably damaging	Het
Cryzl1	A	G	16: 91,487,634 (GRCm39)	I302T	probably benign	Het
Def6	T	C	17: 28,436,044 (GRCm39)	Y68H	probably damaging	Het
Dolpp1	A	G	2: 30,285,748 (GRCm39)	I49V	possibly damaging	Het
Ehmt1	T	C	2: 24,753,329 (GRCm39)	D357G	possibly damaging	Het
Ermp1	G	T	19: 29,594,106 (GRCm39)	T688N	probably benign	Het
F830016B08Rik	T	C	18: 60,433,043 (GRCm39)	I42T	probably damaging	Het
Gbp7	A	G	3: 142,240,327 (GRCm39)	E15G	possibly damaging	Het
Ghdc	A	G	11: 100,661,091 (GRCm39)	S25P	probably benign	Het
Gm45861	A	G	8: 28,014,601 (GRCm39)	N613S	unknown	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Gzmf	T	A	14: 56,444,444 (GRCm39)	D43V	probably benign	Het
Hdac10	C	A	15: 89,011,402 (GRCm39)	D172Y	probably damaging	Het
Krt32	T	A	11: 99,977,308 (GRCm39)	R197S	probably damaging	Het
Lama5	T	C	2: 179,849,038 (GRCm39)	D215G	probably damaging	Het
M1ap	C	A	6: 82,945,094 (GRCm39)	H129Q	probably benign	Het
Mfsd3	A	G	15: 76,587,183 (GRCm39)	D312G	probably benign	Het
Muc5ac	A	G	7: 141,364,798 (GRCm39)	D2628G	probably benign	Het
Myoz3	T	C	18: 60,712,026 (GRCm39)	D184G	possibly damaging	Het
Ncor2	A	G	5: 125,102,139 (GRCm39)	L1217P		Het
Nepn	T	C	10: 52,276,801 (GRCm39)	V179A	probably benign	Het
Niban1	T	A	1: 151,593,538 (GRCm39)	I741N	possibly damaging	Het
Npr2	T	C	4: 43,632,491 (GRCm39)	Y103H	probably damaging	Het
Oosp3	A	T	19: 11,682,806 (GRCm39)	K158M	probably benign	Het
Or51i1	C	A	7: 103,671,079 (GRCm39)	G149C	probably damaging	Het
Or56a3	A	G	7: 104,735,589 (GRCm39)	Y222C		Het
Orc3	G	A	4: 34,607,135 (GRCm39)	T65I	probably benign	Het
Pcdhga7	T	C	18: 37,848,667 (GRCm39)	S225P	probably damaging	Het
Pcsk9	G	T	4: 106,307,386 (GRCm39)	L286I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppm1k	T	A	6: 57,487,762 (GRCm39)	N354Y	probably damaging	Het
Ralgapa1	T	C	12: 55,659,485 (GRCm39)	T2012A	possibly damaging	Het
Selp	T	A	1: 163,953,858 (GRCm39)	W53R	probably damaging	Het
Slc10a7	T	A	8: 79,456,304 (GRCm39)	V302E	possibly damaging	Het
Slc25a32	T	C	15: 38,969,339 (GRCm39)	I65V	probably benign	Het
Spesp1	A	G	9: 62,180,545 (GRCm39)	F121S	probably damaging	Het
Syncrip	T	C	9: 88,361,671 (GRCm39)	T110A	probably benign	Het
Tc2n	T	C	12: 101,660,818 (GRCm39)	D138G	probably benign	Het
Tnfrsf9	C	T	4: 151,018,865 (GRCm39)	P179S	probably benign	Het
Ube2r2	A	G	4: 41,183,329 (GRCm39)	T117A	probably benign	Het
Ush2a	A	C	1: 188,132,078 (GRCm39)	K767Q	possibly damaging	Het
Vdr	A	G	15: 97,767,285 (GRCm39)	V161A	probably benign	Het
Vmn1r33	T	C	6: 66,589,075 (GRCm39)	T160A	possibly damaging	Het
Vmn1r63	A	G	7: 5,805,913 (GRCm39)	S240P	probably benign	Het
Vmp1	T	C	11: 86,476,156 (GRCm39)	N400S	probably benign	Het
Zfp599	G	A	9: 22,160,824 (GRCm39)	T447I	probably damaging	Het

Other mutations in Pnma1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4589:Pnma1	UTSW	12	84,194,235 (GRCm39)	missense	probably benign	0.00
R4748:Pnma1	UTSW	12	84,194,497 (GRCm39)	missense	probably benign	0.07
R5182:Pnma1	UTSW	12	84,193,819 (GRCm39)	missense	probably benign	0.23
R5763:Pnma1	UTSW	12	84,194,124 (GRCm39)	missense	possibly damaging	0.66
R6528:Pnma1	UTSW	12	84,194,197 (GRCm39)	missense	probably benign	0.07
R7493:Pnma1	UTSW	12	84,193,903 (GRCm39)	missense	probably damaging	1.00
R8079:Pnma1	UTSW	12	84,194,109 (GRCm39)	missense	probably damaging	1.00
R9032:Pnma1	UTSW	12	84,193,806 (GRCm39)	missense	probably benign	0.00
R9345:Pnma1	UTSW	12	84,194,232 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GTCCTAGGACTCAGAAGTGC -3'
(R):5'- TGGCTGGAGCACTCAAATG -3'

Sequencing Primer
(F):5'- TCTCGAATCTGCACCAGTAACTG -3'
(R):5'- TGGCTGGAGCACTCAAATGAAATC -3'

Posted On

2022-10-06