Mutagenetix > Incidental Mutation

Incidental Mutation 'R9032:Pnma1'

687150

Institutional Source

Beutler Lab

Gene Symbol

Pnma1

Ensembl Gene

ENSMUSG00000054383

Gene Name

paraneoplastic antigen MA1

Synonyms

5730402C15Rik

MMRRC Submission

068861-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84192905-84195263 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84193806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 299 (N299S)

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: N299S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000060783
Gene: ENSMUSG00000054383
AA Change: N299S

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: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,844,782 (GRCm39)	M78I	probably benign	Het
Abca8b	C	T	11: 109,848,073 (GRCm39)	V803M	probably benign	Het
Acap1	T	C	11: 69,772,491 (GRCm39)	E728G	probably damaging	Het
Afg1l	G	A	10: 42,194,637 (GRCm39)	T385M	probably damaging	Het
Ankib1	T	C	5: 3,819,641 (GRCm39)	I93V	probably benign	Het
Aopep	C	T	13: 63,444,681 (GRCm39)	R752*	probably null	Het
Apoa4	T	A	9: 46,154,275 (GRCm39)	L292Q	probably damaging	Het
Arhgap29	T	A	3: 121,808,249 (GRCm39)	D1142E	probably benign	Het
Asb5	A	T	8: 55,038,929 (GRCm39)	D265V	probably benign	Het
Ash1l	C	T	3: 88,889,294 (GRCm39)	A391V	probably benign	Het
Ash1l	T	C	3: 88,891,529 (GRCm39)	V1136A	probably benign	Het
Cacna1c	G	T	6: 118,615,466 (GRCm39)	Y1308*	probably null	Het
Ctif	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC	18: 75,604,874 (GRCm39)		probably benign	Het
Dmtn	A	G	14: 70,853,534 (GRCm39)	S92P	probably damaging	Het
Edc4	T	C	8: 106,613,639 (GRCm39)	F353S	probably damaging	Het
Emc1	T	C	4: 139,094,474 (GRCm39)	Y676H	possibly damaging	Het
Epb41l4b	A	T	4: 57,041,064 (GRCm39)		probably null	Het
Fat1	A	T	8: 45,492,894 (GRCm39)	N3872I	probably benign	Het
Fer	T	A	17: 64,228,767 (GRCm39)	M214K	probably damaging	Het
Fgf17	A	G	14: 70,874,436 (GRCm39)	F129L	probably damaging	Het
Fnbp1	T	C	2: 30,973,017 (GRCm39)	D161G	probably damaging	Het
Frmd4b	A	C	6: 97,269,334 (GRCm39)	S993A	probably benign	Het
Hsh2d	T	C	8: 72,954,385 (GRCm39)	S256P	probably benign	Het
Il31ra	T	C	13: 112,660,628 (GRCm39)	S654G		Het
Lmnb2	T	C	10: 80,740,091 (GRCm39)	D442G	probably benign	Het
Med19	A	G	2: 84,515,660 (GRCm39)	M115V	probably damaging	Het
Mroh5	T	C	15: 73,655,302 (GRCm39)	Y641C	probably benign	Het
Mrpl18	A	T	17: 13,134,582 (GRCm39)	V61E	probably damaging	Het
Mrtfb	A	C	16: 13,230,092 (GRCm39)	T926P	probably damaging	Het
Mtap	AC	A	4: 89,090,515 (GRCm39)		probably null	Het
Muc2	T	A	7: 141,287,058 (GRCm39)	C154S	probably damaging	Het
Mypn	T	G	10: 62,983,894 (GRCm39)		probably null	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nes	T	G	3: 87,887,069 (GRCm39)	V1776G	possibly damaging	Het
Nxn	A	G	11: 76,169,383 (GRCm39)	I132T	probably damaging	Het
Oxr1	G	A	15: 41,718,317 (GRCm39)	V798I	probably benign	Het
Papss1	C	A	3: 131,324,817 (GRCm39)	H425N	probably damaging	Het
Pde4dip	T	C	3: 97,601,385 (GRCm39)	N2344S	probably benign	Het
Pfas	C	T	11: 68,879,421 (GRCm39)	G263S		Het
Pknox1	C	T	17: 31,822,229 (GRCm39)	T332M	possibly damaging	Het
Plch2	T	C	4: 155,084,976 (GRCm39)	D321G	probably damaging	Het
Psg23	T	G	7: 18,348,660 (GRCm39)	N49T	possibly damaging	Het
Qrfpr	A	G	3: 36,276,099 (GRCm39)	F97S	probably damaging	Het
Rbl1	A	G	2: 157,035,073 (GRCm39)	F336L	probably benign	Het
Rpap1	G	A	2: 119,608,776 (GRCm39)	P143S	probably benign	Het
Rsph6a	A	T	7: 18,799,250 (GRCm39)	N294Y	probably damaging	Het
Serpinb9h	T	C	13: 33,581,781 (GRCm39)	Y113H	probably damaging	Het
Sesn1	C	T	10: 41,686,835 (GRCm39)		probably benign	Het
Sh3d19	T	C	3: 86,033,992 (GRCm39)	Y782H	probably damaging	Het
Siglecg	T	C	7: 43,061,049 (GRCm39)	V374A	probably benign	Het
Slc35d2	A	G	13: 64,256,227 (GRCm39)	F156S	probably damaging	Het
Slc6a11	A	T	6: 114,202,808 (GRCm39)	I301F	probably damaging	Het
Slx4ip	A	G	2: 136,910,240 (GRCm39)	K412E	possibly damaging	Het
Tas2r115	A	T	6: 132,714,327 (GRCm39)	V208E	probably benign	Het
Tlcd5	C	T	9: 43,022,664 (GRCm39)	R230Q	probably benign	Het
Tmem132a	G	T	19: 10,843,835 (GRCm39)	Q174K	probably damaging	Het
Tmtc1	A	T	6: 148,237,749 (GRCm39)	Y338*	probably null	Het
Vav3	C	T	3: 109,413,722 (GRCm39)	A220V	probably benign	Het
Wt1	C	A	2: 104,957,160 (GRCm39)	Q7K	probably benign	Het
Zbtb4	T	A	11: 69,672,650 (GRCm39)	F204L	probably benign	Het
Zfp51	T	A	17: 21,684,660 (GRCm39)	L425H	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
R9345:Pnma1	UTSW	12	84,194,232 (GRCm39)	missense	probably benign	0.07
R9684:Pnma1	UTSW	12	84,193,941 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGTGGCAGGCTTACTAAAACGTC -3'
(R):5'- GAGCTCTAGAGATGCACAGG -3'

Sequencing Primer
(F):5'- GGTATATCAAAAGCAGCCTGGCC -3'
(R):5'- CTCTAGAGATGCACAGGTCAGATTTC -3'

Posted On

2021-11-19