Mutagenetix > Incidental Mutation

Incidental Mutation 'R3738:Pnma8b'

270231

Institutional Source

Beutler Lab

Gene Symbol

Pnma8b

Ensembl Gene

ENSMUSG00000070802

Gene Name

PNMA family member 8B

Synonyms

Pnmal2, EG434128

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R3738 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

16678607-16682753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16680521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 502 (H502Y)

Ref Sequence

ENSEMBL: ENSMUSP00000092401 (fasta)

Gene Model

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

AlphaFold

G3X9N3

Predicted Effect

probably benign
Transcript: ENSMUST00000094807
AA Change: H502Y

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

SMART Domains

Protein: ENSMUSP00000092401
Gene: ENSMUSG00000070802
AA Change: H502Y

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

98% (47/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	A	T	11: 48,910,108 (GRCm39)	L775*	probably null	Het
Abcb8	A	G	5: 24,605,619 (GRCm39)	S168G	probably benign	Het
Ankrd11	A	G	8: 123,623,454 (GRCm39)		probably benign	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Atp8b1	A	G	18: 64,666,800 (GRCm39)		probably benign	Het
Camk2d	A	G	3: 126,565,488 (GRCm39)	D136G	probably damaging	Het
Capn3	G	A	2: 120,315,768 (GRCm39)	D227N	possibly damaging	Het
Ccdc168	A	G	1: 44,098,026 (GRCm39)	V1024A	probably benign	Het
Cwf19l2	A	T	9: 3,456,803 (GRCm39)	H712L	probably benign	Het
Dlgap3	A	G	4: 127,089,399 (GRCm39)	T332A	probably damaging	Het
Eml6	C	A	11: 29,753,137 (GRCm39)	V925L	probably benign	Het
Fbll1	G	A	11: 35,688,505 (GRCm39)	H253Y	possibly damaging	Het
Fbxw18	T	A	9: 109,517,981 (GRCm39)	Y335F	possibly damaging	Het
Gbp10	T	A	5: 105,372,324 (GRCm39)	E145D	possibly damaging	Het
Ifi203	T	A	1: 173,757,040 (GRCm39)		probably benign	Het
Insig1	T	A	5: 28,276,701 (GRCm39)	I89N	probably damaging	Het
Itpkc	T	A	7: 26,927,029 (GRCm39)	D295V	possibly damaging	Het
Jak1	T	C	4: 101,048,665 (GRCm39)		probably benign	Het
Kctd9	G	A	14: 67,971,737 (GRCm39)	D157N	possibly damaging	Het
Kmt2c	A	C	5: 25,610,381 (GRCm39)	F242V	probably benign	Het
Lcorl	A	T	5: 45,891,383 (GRCm39)	N323K	possibly damaging	Het
Lin54	T	C	5: 100,607,665 (GRCm39)		probably benign	Het
Ltbp2	A	T	12: 84,851,248 (GRCm39)	C836S	probably damaging	Het
Mfsd2b	A	G	12: 4,920,578 (GRCm39)	S80P	probably damaging	Het
Myh9	G	A	15: 77,651,012 (GRCm39)	R1612C	probably damaging	Het
Nr1d2	T	A	14: 18,211,804 (GRCm38)	N433I	possibly damaging	Het
Or2y1	A	G	11: 49,386,287 (GRCm39)	D309G	possibly damaging	Het
Or4c112	T	C	2: 88,853,954 (GRCm39)	Y131C	probably damaging	Het
Or4l15	T	C	14: 50,198,013 (GRCm39)	N172S	possibly damaging	Het
Pld4	T	C	12: 112,734,469 (GRCm39)	I410T	probably benign	Het
Pramel12	T	C	4: 143,143,212 (GRCm39)		probably benign	Het
Rbbp8nl	G	T	2: 179,923,041 (GRCm39)	T184K	probably benign	Het
Saa4	T	A	7: 46,379,053 (GRCm39)	N96Y	possibly damaging	Het
Serpinb6d	T	A	13: 33,851,663 (GRCm39)	V140E	probably damaging	Het
Ska3	A	T	14: 58,049,053 (GRCm39)	M306K	probably benign	Het
Slfn4	T	C	11: 83,076,137 (GRCm39)	M1T	probably null	Het
Sorcs1	T	C	19: 50,139,659 (GRCm39)	I1168V	probably benign	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
St18	G	A	1: 6,925,697 (GRCm39)		probably null	Het
Trim9	T	C	12: 70,297,969 (GRCm39)	T579A	probably damaging	Het
Trpc2	G	A	7: 101,733,711 (GRCm39)	S220N	probably damaging	Het
Ube2j1	A	T	4: 33,036,723 (GRCm39)	M16L	probably benign	Het
Usp42	C	T	5: 143,701,194 (GRCm39)	S943N	probably benign	Het
Utp20	C	T	10: 88,598,668 (GRCm39)	V103I	probably benign	Het
Vmn2r62	G	A	7: 42,437,311 (GRCm39)	P391L	probably benign	Het
Zfa-ps	T	A	10: 52,420,636 (GRCm39)		noncoding transcript	Het
Zfp423	A	G	8: 88,507,972 (GRCm39)	C666R	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
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
R8231:Pnma8b	UTSW	7	16,680,515 (GRCm39)	missense	probably benign	0.01
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

2015-03-18