Mutagenetix > Incidental Mutation

Incidental Mutation 'R8231:Pnma8b'

637142

Institutional Source

Beutler Lab

Gene Symbol

Pnma8b

Ensembl Gene

ENSMUSG00000070802

Gene Name

PNMA family member 8B

Synonyms

Pnmal2, EG434128

MMRRC Submission

067663-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R8231 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16678607-16682753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 16680515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 500 (C500R)

Ref Sequence

ENSEMBL: ENSMUSP00000092401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094807]

AlphaFold

G3X9N3

Predicted Effect

probably benign
Transcript: ENSMUST00000094807
AA Change: C500R

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000092401
Gene: ENSMUSG00000070802
AA Change: C500R

Domain	Start	End	E-Value	Type
Pfam:PNMA	1	152	4.1e-36	PFAM
low complexity region	172	196	N/A	INTRINSIC
internal_repeat_1	239	296	1.86e-6	PROSPERO
SCOP:d1qbkb_	309	331	2e-3	SMART
internal_repeat_1	343	402	1.86e-6	PROSPERO
low complexity region	445	454	N/A	INTRINSIC
low complexity region	466	475	N/A	INTRINSIC
low complexity region	483	498	N/A	INTRINSIC
low complexity region	518	551	N/A	INTRINSIC
low complexity region	571	596	N/A	INTRINSIC
low complexity region	612	636	N/A	INTRINSIC
low complexity region	646	659	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg8	C	T	17: 85,000,213 (GRCm39)	R258C	probably damaging	Het
Acsf2	C	G	11: 94,452,188 (GRCm39)	E451D	probably benign	Het
Adam34	A	T	8: 44,104,659 (GRCm39)	S329T	probably benign	Het
Adamts16	A	G	13: 70,925,599 (GRCm39)	I535T	probably damaging	Het
Atp6v0d2	A	G	4: 19,881,451 (GRCm39)	F214S	probably damaging	Het
Btg4	A	G	9: 51,027,868 (GRCm39)	T13A	possibly damaging	Het
Ccdc121	T	A	5: 31,643,551 (GRCm39)	C94S	probably benign	Het
Cplane1	T	C	15: 8,248,511 (GRCm39)	Y1687H	probably benign	Het
Csmd1	A	T	8: 16,747,939 (GRCm39)	S271T	possibly damaging	Het
Cul9	T	C	17: 46,831,427 (GRCm39)	T1596A	probably damaging	Het
Cyp2a4	G	A	7: 26,012,362 (GRCm39)	D382N	probably benign	Het
Dbh	C	T	2: 27,060,555 (GRCm39)	R244C	probably benign	Het
Dennd11	A	T	6: 40,395,546 (GRCm39)	H187Q	probably benign	Het
Dnajc2	T	C	5: 21,966,689 (GRCm39)	K426R	probably benign	Het
Dock4	T	A	12: 40,752,950 (GRCm39)	M428K	possibly damaging	Het
Duox2	A	T	2: 122,120,044 (GRCm39)	M822K	possibly damaging	Het
Golga5	T	C	12: 102,438,558 (GRCm39)	V91A	probably benign	Het
Gpatch2l	T	C	12: 86,290,963 (GRCm39)	S49P	probably damaging	Het
Ints7	T	A	1: 191,328,465 (GRCm39)	L246*	probably null	Het
Kntc1	A	G	5: 123,920,959 (GRCm39)	T926A	possibly damaging	Het
Kyat1	T	C	2: 30,081,978 (GRCm39)	T54A	probably benign	Het
Megf6	C	G	4: 154,336,975 (GRCm39)	C359W	probably damaging	Het
Mlh3	A	G	12: 85,307,572 (GRCm39)		probably null	Het
Neb	C	A	2: 52,125,491 (GRCm39)		probably null	Het
Nyap2	A	T	1: 81,169,846 (GRCm39)	Q201L	probably benign	Het
Pibf1	T	G	14: 99,423,997 (GRCm39)	H523Q	probably benign	Het
Piezo1	A	G	8: 123,232,836 (GRCm39)	S133P		Het
Ptpra	A	G	2: 130,379,523 (GRCm39)	N359S	probably damaging	Het
Rce1	A	T	19: 4,675,078 (GRCm39)	I112N	probably damaging	Het
Rmdn1	T	C	4: 19,586,853 (GRCm39)	Y104H	probably benign	Het
Snx22	A	T	9: 65,975,480 (GRCm39)	D96E	probably benign	Het
Sox5	G	T	6: 143,974,014 (GRCm39)	Q245K	probably damaging	Het
Stat6	A	G	10: 127,482,842 (GRCm39)	D21G	possibly damaging	Het
Tbc1d15	T	C	10: 115,065,045 (GRCm39)	Y180C	probably damaging	Het
Tdrd6	T	C	17: 43,933,026 (GRCm39)	T2058A	probably damaging	Het
Thbs4	A	T	13: 92,911,352 (GRCm39)	V277E	probably benign	Het
Tmem255b	A	G	8: 13,504,225 (GRCm39)	D139G	probably damaging	Het
Ttc27	C	A	17: 75,024,959 (GRCm39)	T18K	probably benign	Het
Zfp131	A	G	13: 120,237,348 (GRCm39)	F337L	probably damaging	Het

Other mutations in Pnma8b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Pnma8b	APN	7	16,679,088 (GRCm39)	missense	unknown
IGL02023:Pnma8b	APN	7	16,679,616 (GRCm39)	missense	probably damaging	0.97
FR4737:Pnma8b	UTSW	7	16,679,931 (GRCm39)	small deletion	probably benign
R0085:Pnma8b	UTSW	7	16,679,474 (GRCm39)	missense	unknown
R2069:Pnma8b	UTSW	7	16,679,714 (GRCm39)	missense	probably damaging	0.99
R2151:Pnma8b	UTSW	7	16,679,837 (GRCm39)	missense	probably benign	0.00
R2321:Pnma8b	UTSW	7	16,679,490 (GRCm39)	missense	unknown
R2929:Pnma8b	UTSW	7	16,680,617 (GRCm39)	missense	possibly damaging	0.93
R3738:Pnma8b	UTSW	7	16,680,521 (GRCm39)	missense	probably benign	0.00
R3739:Pnma8b	UTSW	7	16,680,521 (GRCm39)	missense	probably benign	0.00
R5185:Pnma8b	UTSW	7	16,679,901 (GRCm39)	missense	probably damaging	1.00
R5259:Pnma8b	UTSW	7	16,679,199 (GRCm39)	missense	unknown
R5908:Pnma8b	UTSW	7	16,680,968 (GRCm39)	missense	unknown
R5943:Pnma8b	UTSW	7	16,680,362 (GRCm39)	missense	probably benign	0.25
R6101:Pnma8b	UTSW	7	16,680,493 (GRCm39)	missense	probably benign	0.20
R6260:Pnma8b	UTSW	7	16,680,158 (GRCm39)	missense	probably benign	0.03
R6583:Pnma8b	UTSW	7	16,679,844 (GRCm39)	missense	probably damaging	0.97
R7007:Pnma8b	UTSW	7	16,680,181 (GRCm39)	missense	possibly damaging	0.68
R7497:Pnma8b	UTSW	7	16,678,874 (GRCm39)	start gained	probably benign
R8278:Pnma8b	UTSW	7	16,680,263 (GRCm39)	missense	probably damaging	0.99
R8685:Pnma8b	UTSW	7	16,679,965 (GRCm39)	missense	unknown
R9211:Pnma8b	UTSW	7	16,679,589 (GRCm39)	missense	unknown
R9236:Pnma8b	UTSW	7	16,679,964 (GRCm39)	missense	unknown
R9245:Pnma8b	UTSW	7	16,680,843 (GRCm39)	missense	probably benign	0.19
R9267:Pnma8b	UTSW	7	16,679,159 (GRCm39)	missense	unknown
RF003:Pnma8b	UTSW	7	16,679,941 (GRCm39)	small insertion	probably benign
Z1176:Pnma8b	UTSW	7	16,680,735 (GRCm39)	missense	possibly damaging	0.93
Z1177:Pnma8b	UTSW	7	16,680,893 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATTTCTACCTTGGCTGAGGCAG -3'
(R):5'- TTCTTCTCTGGGGTGACAGC -3'

Sequencing Primer
(F):5'- CTACCTTGGCTGAGGCAGAGAAC -3'
(R):5'- AGGCCTTTGGAGCCTGTGC -3'

Posted On

2020-07-13