Mutagenetix > Incidental Mutation

Incidental Mutation 'R5182:Pnma1'

397630

Institutional Source

Beutler Lab

Gene Symbol

Pnma1

Ensembl Gene

ENSMUSG00000054383

Gene Name

paraneoplastic antigen MA1

Synonyms

5730402C15Rik

MMRRC Submission

042853-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5182 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

84192905-84195263 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84193819 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 295 (I295V)

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: I295V

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000060783
Gene: ENSMUSG00000054383
AA Change: I295V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143711

Meta Mutation Damage Score

0.0889

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (66/66)

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
1110059E24Rik	A	G	19: 21,608,129 (GRCm39)	M1T	probably null	Het
Abcg8	T	C	17: 85,000,172 (GRCm39)	L243P	probably damaging	Het
Ankrd27	A	G	7: 35,327,912 (GRCm39)	T811A	probably damaging	Het
Auts2	T	C	5: 131,503,919 (GRCm39)	N188S	probably null	Het
Bak1	G	A	17: 27,241,722 (GRCm39)	P65L	possibly damaging	Het
Cep350	A	C	1: 155,733,854 (GRCm39)	L3013R	probably damaging	Het
Clca3b	A	G	3: 144,533,776 (GRCm39)	I533T	probably damaging	Het
Col6a5	C	A	9: 105,734,531 (GRCm39)	E2637*	probably null	Het
Coq5	G	A	5: 115,417,815 (GRCm39)	R15H	probably benign	Het
Dnah5	T	G	15: 28,311,424 (GRCm39)	I1801S	probably damaging	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dpf3	T	C	12: 83,417,370 (GRCm39)	E34G	probably damaging	Het
Dst	C	A	1: 34,218,167 (GRCm39)	Q1536K	probably benign	Het
Eeig2	T	C	3: 108,892,667 (GRCm39)	K173E	possibly damaging	Het
Eng	T	C	2: 32,562,971 (GRCm39)		probably null	Het
Fignl1	A	T	11: 11,751,717 (GRCm39)	I446N	probably damaging	Het
Fras1	C	A	5: 96,784,032 (GRCm39)	C845*	probably null	Het
Gfm2	T	C	13: 97,299,401 (GRCm39)	V347A	probably damaging	Het
Gpld1	A	T	13: 25,168,053 (GRCm39)		probably null	Het
Grn	C	A	11: 102,321,380 (GRCm39)		probably benign	Het
Gsdmc4	C	A	15: 63,765,653 (GRCm39)	V299F	probably damaging	Het
Hrnr	A	T	3: 93,239,450 (GRCm39)	R3229S	unknown	Het
Icam5	A	G	9: 20,946,106 (GRCm39)	T313A	probably benign	Het
Ift172	T	A	5: 31,424,958 (GRCm39)	D668V	possibly damaging	Het
Kdm5a	T	A	6: 120,365,066 (GRCm39)	C322*	probably null	Het
Klk6	A	G	7: 43,478,084 (GRCm39)	K152R	probably benign	Het
Man1a2	A	C	3: 100,554,333 (GRCm39)	I250S	probably damaging	Het
Nkpd1	A	G	7: 19,257,181 (GRCm39)	Y170C	probably damaging	Het
Nmd3	T	A	3: 69,629,801 (GRCm39)		probably null	Het
Or2y3	A	G	17: 38,393,005 (GRCm39)	M288T	probably benign	Het
Or51f1	A	T	7: 102,506,176 (GRCm39)	D104E	probably benign	Het
Pax4	C	T	6: 28,444,368 (GRCm39)	E229K	probably benign	Het
Pdc	T	C	1: 150,209,105 (GRCm39)	I196T	possibly damaging	Het
Pld1	T	C	3: 28,099,230 (GRCm39)	I299T	probably damaging	Het
Prkg2	T	A	5: 99,172,568 (GRCm39)	Y49F	probably benign	Het
Psmd12	T	C	11: 107,370,485 (GRCm39)	L28P	probably damaging	Het
Ptprg	A	G	14: 12,154,174 (GRCm38)	T632A	probably benign	Het
Rab43	A	G	6: 87,771,637 (GRCm39)	*118R	probably null	Het
Rabep1	C	T	11: 70,795,454 (GRCm39)	R227*	probably null	Het
Rad51c	T	G	11: 87,288,545 (GRCm39)	I213L	possibly damaging	Het
Ranbp17	A	T	11: 33,169,287 (GRCm39)		probably benign	Het
Ryr3	T	C	2: 112,585,495 (GRCm39)	E2735G	probably damaging	Het
Sdc3	A	G	4: 130,548,995 (GRCm39)		probably benign	Het
Sirpa	G	A	2: 129,457,652 (GRCm39)	R242H	possibly damaging	Het
Slc12a4	G	A	8: 106,671,238 (GRCm39)	T983M	probably damaging	Het
Snx7	A	G	3: 117,626,506 (GRCm39)	Y252H	probably damaging	Het
St18	C	T	1: 6,887,877 (GRCm39)	T482I	probably benign	Het
St7	A	G	6: 17,846,236 (GRCm39)	Y163C	probably damaging	Het
Tas2r140	A	T	6: 40,468,866 (GRCm39)	Q232L	probably benign	Het
Tgm6	A	T	2: 129,983,222 (GRCm39)	K270N	probably damaging	Het
Tiam2	G	A	17: 3,488,996 (GRCm39)	G768D	probably damaging	Het
Ttn	C	T	2: 76,700,773 (GRCm39)		probably benign	Het
Ube4b	A	C	4: 149,465,699 (GRCm39)	S250R	probably null	Het
Ubxn2a	G	A	12: 4,930,634 (GRCm39)	A242V	probably damaging	Het
Usp10	G	A	8: 120,683,420 (GRCm39)	V764I	possibly damaging	Het
Vmn1r222	A	G	13: 23,416,667 (GRCm39)	L182P	probably damaging	Het
Vmn2r114	A	G	17: 23,510,632 (GRCm39)	V616A	probably damaging	Het
Vps13a	A	G	19: 16,672,863 (GRCm39)	V1303A	possibly damaging	Het
Wnk2	G	T	13: 49,214,637 (GRCm39)	T1315K	possibly damaging	Het
Zfp936	G	A	7: 42,839,331 (GRCm39)	C266Y	probably damaging	Het
Zscan20	G	T	4: 128,480,504 (GRCm39)	N662K	possibly 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
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
R9684:Pnma1	UTSW	12	84,193,941 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATATCAAAAGCAGCCTGGCC -3'
(R):5'- TGAAGGCTCTTGAGCAGGTC -3'

Sequencing Primer
(F):5'- TCCTAGGACTCAGAAGTGCC -3'
(R):5'- AAGGCTCTTGAGCAGGTCTTTGG -3'

Posted On

2016-07-06