Mutagenetix > Incidental Mutation

Incidental Mutation 'R5928:Pnma2'

460047

Institutional Source

Beutler Lab

Gene Symbol

Pnma2

Ensembl Gene

ENSMUSG00000046204

Gene Name

paraneoplastic antigen MA2

Synonyms

A830049P17Rik

MMRRC Submission

044123-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5928 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67148619-67158472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67154323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 249 (T249I)

Ref Sequence

ENSEMBL: ENSMUSP00000112629 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089236] [ENSMUST00000122431]

AlphaFold

Q8BHK0

Predicted Effect

probably benign
Transcript: ENSMUST00000089236
AA Change: T249I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000086646
Gene: ENSMUSG00000046204
AA Change: T249I

Domain	Start	End	E-Value	Type
Pfam:PNMA	1	328	1.9e-119	PFAM
Pfam:Retrotrans_gag	204	303	2.8e-8	PFAM
low complexity region	343	357	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122431
AA Change: T249I

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000112629
Gene: ENSMUSG00000046204
AA Change: T249I

Domain	Start	End	E-Value	Type
Pfam:PNMA	1	329	7.1e-111	PFAM
Pfam:Retrotrans_gag	204	303	3.3e-8	PFAM
low complexity region	343	357	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000168010

Meta Mutation Damage Score

0.0818

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

97% (90/93)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	A	17: 24,537,159 (GRCm39)	I475L	probably benign	Het
Abcc2	C	T	19: 43,807,797 (GRCm39)	R813W	probably damaging	Het
Adam34	T	C	8: 44,105,067 (GRCm39)	T193A	probably benign	Het
Adgb	T	C	10: 10,254,531 (GRCm39)	D1118G	probably damaging	Het
Adprh	A	C	16: 38,267,746 (GRCm39)	S180A	probably benign	Het
Atad5	A	T	11: 79,985,003 (GRCm39)	D30V	probably damaging	Het
Best3	G	A	10: 116,843,532 (GRCm39)	D303N	probably damaging	Het
Bmp2k	G	C	5: 97,235,595 (GRCm39)		probably benign	Het
Btc	A	T	5: 91,514,004 (GRCm39)	V86E	probably damaging	Het
Cacna2d4	G	T	6: 119,258,659 (GRCm39)	A582S	probably benign	Het
Carm1	A	G	9: 21,486,598 (GRCm39)		probably benign	Het
Catsperg1	A	T	7: 28,906,040 (GRCm39)	S180T	probably damaging	Het
Ccdc185	A	T	1: 182,575,047 (GRCm39)	H547Q	probably benign	Het
Ccl6	A	G	11: 83,479,658 (GRCm39)	I115T	possibly damaging	Het
Cd44	C	T	2: 102,654,648 (GRCm39)	V470M	probably damaging	Het
Cdc25a	T	C	9: 109,718,861 (GRCm39)	V354A	probably damaging	Het
Cdhr2	C	A	13: 54,881,832 (GRCm39)	Q1122K	probably benign	Het
Cep290	A	G	10: 100,387,692 (GRCm39)	K1958E	probably damaging	Het
Cfap53	C	T	18: 74,492,811 (GRCm39)	P512S	possibly damaging	Het
Chrdl2	A	T	7: 99,659,200 (GRCm39)		probably benign	Het
Cibar1	A	G	4: 12,171,919 (GRCm39)		probably benign	Het
Clec7a	A	T	6: 129,442,430 (GRCm39)	F199Y	probably damaging	Het
Cracd	A	C	5: 76,989,581 (GRCm39)		probably benign	Het
Dhx29	A	G	13: 113,101,002 (GRCm39)	K1182E	probably benign	Het
Dnah11	G	T	12: 117,878,371 (GRCm39)		probably null	Het
Dnmt3a	A	G	12: 3,916,096 (GRCm39)	S94G	possibly damaging	Het
Ecpas	A	T	4: 58,849,948 (GRCm39)	M425K	possibly damaging	Het
Egfem1	T	C	3: 29,637,077 (GRCm39)	V42A	possibly damaging	Het
Eif3e	T	A	15: 43,138,728 (GRCm39)		probably null	Het
Exosc9	T	A	3: 36,609,774 (GRCm39)		probably benign	Het
Fbxw18	T	A	9: 109,529,149 (GRCm39)	T135S	probably damaging	Het
Fbxw21	T	C	9: 108,972,893 (GRCm39)	E347G	possibly damaging	Het
Gcm2	A	G	13: 41,256,874 (GRCm39)	Y292H	probably benign	Het
Gltpd2	C	A	11: 70,410,179 (GRCm39)	Q46K	probably benign	Het
Gm6741	A	G	17: 91,544,528 (GRCm39)	Y97C	probably damaging	Het
Golgb1	T	C	16: 36,732,349 (GRCm39)	L532S	probably damaging	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Helz2	A	T	2: 180,872,177 (GRCm39)	F2554L	possibly damaging	Het
Hmbox1	T	A	14: 65,061,122 (GRCm39)	H384L	possibly damaging	Het
Hmcn1	G	T	1: 150,474,648 (GRCm39)	D4746E	possibly damaging	Het
Il17rb	C	A	14: 29,726,232 (GRCm39)		probably null	Het
Irak2	A	T	6: 113,653,587 (GRCm39)	I252F	probably damaging	Het
Khnyn	C	T	14: 56,123,344 (GRCm39)	R33C	probably damaging	Het
Ksr1	G	A	11: 78,950,545 (GRCm39)	P20L	probably damaging	Het
Lamc3	T	C	2: 31,811,721 (GRCm39)	Y903H	probably benign	Het
Miga2	T	C	2: 30,258,875 (GRCm39)		probably benign	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Ncoa4	T	C	14: 31,888,678 (GRCm39)		probably null	Het
Nphp3	T	C	9: 103,912,996 (GRCm39)	Y925H	probably benign	Het
Nr2c1	T	G	10: 94,024,055 (GRCm39)	L420R	probably damaging	Het
Onecut1	A	G	9: 74,770,066 (GRCm39)	N163S	probably benign	Het
Or5ac21	G	A	16: 59,123,521 (GRCm39)	E2K	probably damaging	Het
Or5d47	T	A	2: 87,804,380 (GRCm39)	S210C	probably benign	Het
Or7e166	A	T	9: 19,625,049 (GRCm39)	T309S	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Per2	C	T	1: 91,372,373 (GRCm39)	V234I	probably damaging	Het
Pign	A	G	1: 105,485,792 (GRCm39)	V735A	possibly damaging	Het
Plekha7	T	C	7: 115,727,809 (GRCm39)	K85R	probably benign	Het
Polr2b	A	G	5: 77,493,189 (GRCm39)	D1057G	probably damaging	Het
Polrmt	A	T	10: 79,576,186 (GRCm39)	L519H	probably damaging	Het
Ptar1	T	C	19: 23,695,277 (GRCm39)	I248T	probably benign	Het
Ptprh	A	C	7: 4,576,507 (GRCm39)	L251R	probably damaging	Het
Purg	T	C	8: 33,876,980 (GRCm39)	M206T	probably benign	Het
Pwp2	A	T	10: 78,018,290 (GRCm39)	F134I	probably damaging	Het
Riok3	T	A	18: 12,286,075 (GRCm39)	H434Q	probably benign	Het
Sorbs2	A	G	8: 46,216,220 (GRCm39)	I187V	probably damaging	Het
Tbc1d2b	T	C	9: 90,101,197 (GRCm39)	I598V	probably benign	Het
Tdg	T	A	10: 82,477,204 (GRCm39)	V85E	probably benign	Het
Tfb1m	C	T	17: 3,593,422 (GRCm39)	V166I	probably benign	Het
Tmem163	A	T	1: 127,419,383 (GRCm39)	M274K	probably damaging	Het
Tpr	T	C	1: 150,303,878 (GRCm39)	I1343T	probably benign	Het
Ttn	T	A	2: 76,719,794 (GRCm39)		probably benign	Het
Tut7	G	A	13: 59,969,880 (GRCm39)	A5V	probably benign	Het
Usp34	A	G	11: 23,386,040 (GRCm39)	T2156A	probably damaging	Het
Vmn1r215	A	T	13: 23,260,487 (GRCm39)	T176S	possibly damaging	Het
Vps52	C	T	17: 34,180,100 (GRCm39)	P268L	possibly damaging	Het
Xbp1	G	A	11: 5,473,514 (GRCm39)		probably benign	Het
Ythdc2	T	A	18: 44,966,272 (GRCm39)	F169L	probably benign	Het
Zfyve16	T	C	13: 92,658,625 (GRCm39)	R429G	probably benign	Het
Zzef1	A	G	11: 72,803,678 (GRCm39)	E2504G	probably damaging	Het

Other mutations in Pnma2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1752:Pnma2	UTSW	14	67,153,785 (GRCm39)	missense	probably benign
R1834:Pnma2	UTSW	14	67,154,662 (GRCm39)	missense	possibly damaging	0.53
R4606:Pnma2	UTSW	14	67,153,681 (GRCm39)	missense	probably benign	0.03
R4878:Pnma2	UTSW	14	67,154,503 (GRCm39)	nonsense	probably null
R5185:Pnma2	UTSW	14	67,153,578 (GRCm39)	start codon destroyed	possibly damaging	0.78
R5242:Pnma2	UTSW	14	67,153,746 (GRCm39)	missense	probably benign	0.04
R5274:Pnma2	UTSW	14	67,154,209 (GRCm39)	missense	probably damaging	1.00
R7156:Pnma2	UTSW	14	67,153,980 (GRCm39)	missense	probably benign	0.19
R7352:Pnma2	UTSW	14	67,153,870 (GRCm39)	missense	possibly damaging	0.93
R7577:Pnma2	UTSW	14	67,153,428 (GRCm39)	start gained	probably benign
R8411:Pnma2	UTSW	14	67,153,762 (GRCm39)	missense	possibly damaging	0.48
R8558:Pnma2	UTSW	14	67,153,972 (GRCm39)	missense	probably benign	0.27
R9165:Pnma2	UTSW	14	67,154,572 (GRCm39)	missense	probably damaging	1.00
R9385:Pnma2	UTSW	14	67,153,371 (GRCm39)	start gained	probably benign
R9799:Pnma2	UTSW	14	67,154,009 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- CCCTTTGAGGTCTGGTTGGAAC -3'
(R):5'- CTGCTCTCTTGTTCAAAGTAGGC -3'

Sequencing Primer
(F):5'- TCTGGTTGGAACAGGCCAC -3'
(R):5'- CCTTCATCAGCTGCAAAAAGGTGG -3'

Posted On

2017-02-28