Mutagenetix > Incidental Mutation

Incidental Mutation 'R8278:Pnma8b'

638066

Institutional Source

Beutler Lab

Gene Symbol

Pnma8b

Ensembl Gene

ENSMUSG00000070802

Gene Name

PNMA family member 8B

Synonyms

Pnmal2, EG434128

MMRRC Submission

067701-MU

Accession Numbers

Essential gene?

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

Stock #

R8278 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

16678607-16682753 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 16680263 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 416 (V416L)

Ref Sequence

ENSEMBL: ENSMUSP00000092401 (fasta)

Gene Model

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

AlphaFold

G3X9N3

Predicted Effect

probably damaging
Transcript: ENSMUST00000094807
AA Change: V416L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000092401
Gene: ENSMUSG00000070802
AA Change: V416L

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	A	T	16: 4,668,040 (GRCm39)	Q477L	probably benign	Het
Adcy10	A	T	1: 165,330,857 (GRCm39)	D40V	probably damaging	Het
Cab39l	T	C	14: 59,776,562 (GRCm39)	Y248H	probably damaging	Het
Casr	G	T	16: 36,336,011 (GRCm39)	D99E	probably damaging	Het
Cdh16	T	C	8: 105,345,107 (GRCm39)	E364G	probably benign	Het
Cep104	C	T	4: 154,068,122 (GRCm39)	T189I	possibly damaging	Het
Cfap418	T	A	4: 10,882,474 (GRCm39)		probably null	Het
Chd7	T	A	4: 8,862,485 (GRCm39)		probably null	Het
Chit1	G	A	1: 134,078,332 (GRCm39)	R380Q	probably benign	Het
Cpne2	A	G	8: 95,281,316 (GRCm39)	K174R	probably damaging	Het
Dchs2	T	A	3: 83,178,310 (GRCm39)	I1121N	probably damaging	Het
Fgf6	A	T	6: 126,992,781 (GRCm39)	Y78F	probably damaging	Het
H2-T10	A	T	17: 36,429,832 (GRCm39)	N320K	probably benign	Het
Heatr3	A	T	8: 88,883,361 (GRCm39)	N398I	possibly damaging	Het
Hrh4	T	C	18: 13,140,284 (GRCm39)	S60P	probably damaging	Het
Ikbip	A	G	10: 90,932,190 (GRCm39)	H278R	probably benign	Het
Jmy	A	T	13: 93,601,224 (GRCm39)	I394N	probably damaging	Het
Klhl8	T	C	5: 104,022,107 (GRCm39)	E314G	probably benign	Het
Lhx9	A	T	1: 138,766,324 (GRCm39)	C164S	probably damaging	Het
Loxl3	G	T	6: 83,025,697 (GRCm39)	G352C	probably damaging	Het
Lrrk1	A	G	7: 65,928,432 (GRCm39)	F1232S	probably benign	Het
Mpnd	A	G	17: 56,319,469 (GRCm39)	T311A	probably benign	Het
Mpp7	A	T	18: 7,444,025 (GRCm39)	D132E	probably benign	Het
Nck2	T	C	1: 43,593,740 (GRCm39)	S316P	probably damaging	Het
Nckap5	T	C	1: 125,955,509 (GRCm39)	S348G	probably damaging	Het
Nyap1	C	T	5: 137,730,077 (GRCm39)	R790H	probably damaging	Het
Or5b124	C	T	19: 13,610,958 (GRCm39)	T161I	possibly damaging	Het
Pdcd11	G	A	19: 47,094,736 (GRCm39)	V507I	probably damaging	Het
Pdzd2	T	C	15: 12,375,995 (GRCm39)	H1380R	probably benign	Het
Pgap1	C	T	1: 54,529,430 (GRCm39)	V763I	probably benign	Het
Prkn	A	T	17: 12,269,609 (GRCm39)	N421Y	probably benign	Het
Prpf4	T	C	4: 62,333,493 (GRCm39)		probably null	Het
Psmb5	C	T	14: 54,855,342 (GRCm39)	G36D	probably benign	Het
Ptprq	A	G	10: 107,522,239 (GRCm39)	S571P	possibly damaging	Het
Rap1gap	A	C	4: 137,444,748 (GRCm39)	S254R	probably damaging	Het
Rufy2	A	T	10: 62,843,472 (GRCm39)	D492V	probably benign	Het
Ryr2	C	A	13: 11,610,392 (GRCm39)	E4145*	probably null	Het
Sgsm1	A	G	5: 113,407,958 (GRCm39)	F898L	probably damaging	Het
Slc26a9	C	A	1: 131,689,514 (GRCm39)	A487D	possibly damaging	Het
Slc6a15	T	C	10: 103,229,890 (GRCm39)		probably null	Het
Smad9	A	T	3: 54,696,687 (GRCm39)	T251S	probably benign	Het
Socs3	A	T	11: 117,858,478 (GRCm39)	C193*	probably null	Het
Sox6	T	A	7: 115,076,199 (GRCm39)	D813V	probably damaging	Het
Taf2	A	T	15: 54,929,361 (GRCm39)	L65*	probably null	Het
Taf6	G	A	5: 138,178,097 (GRCm39)	A468V	probably benign	Het
Tmem71	T	C	15: 66,426,961 (GRCm39)	D78G	probably damaging	Het
Tob2	T	C	15: 81,735,288 (GRCm39)	N227S	probably benign	Het
Trim34a	C	A	7: 103,898,623 (GRCm39)	Q180K	probably damaging	Het
Ugt1a9	T	C	1: 87,999,378 (GRCm39)	L276P	possibly damaging	Het
Wdr33	G	A	18: 31,960,405 (GRCm39)	R23Q	possibly damaging	Het
Wnt7b	T	G	15: 85,427,887 (GRCm39)	N189H		Het
Zfp609	G	A	9: 65,604,804 (GRCm39)	A1308V	possibly 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
R8231:Pnma8b	UTSW	7	16,680,515 (GRCm39)	missense	probably benign	0.01
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'- CCCCGAGTTTGTGGCTATTG -3'
(R):5'- AGCTTCCACCATATCTTGCG -3'

Sequencing Primer
(F):5'- GGCTATTGTGGCTTATACAGACCC -3'
(R):5'- GCAGCCAAGAGTGCCAC -3'

Posted On

2020-07-28