Mutagenetix > Incidental Mutation

Incidental Mutation 'R6107:Ngrn'

485558

Institutional Source

Beutler Lab

Gene Symbol

Ngrn

Ensembl Gene

ENSMUSG00000047084

Gene Name

neugrin, neurite outgrowth associated

Synonyms

neurite outgrowth associated protein

MMRRC Submission

044257-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6107 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79910963-79915122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79911625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 74 (E74G)

Ref Sequence

ENSEMBL: ENSMUSP00000113444 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058266] [ENSMUST00000117989] [ENSMUST00000205270]

AlphaFold

Q99KS2

Predicted Effect

probably benign
Transcript: ENSMUST00000058266

SMART Domains

Protein: ENSMUSP00000062795
Gene: ENSMUSG00000045467

Domain	Start	End	E-Value	Type
low complexity region	9	30	N/A	INTRINSIC
low complexity region	78	86	N/A	INTRINSIC
Pfam:TTL	131	427	3.4e-90	PFAM
coiled coil region	504	528	N/A	INTRINSIC
low complexity region	589	603	N/A	INTRINSIC
low complexity region	646	657	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107381

SMART Domains

Protein: ENSMUSP00000103004
Gene: ENSMUSG00000045467

Domain	Start	End	E-Value	Type
low complexity region	9	30	N/A	INTRINSIC
low complexity region	78	86	N/A	INTRINSIC
Pfam:TTL	131	427	3.5e-90	PFAM
coiled coil region	504	528	N/A	INTRINSIC
low complexity region	589	603	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117989
AA Change: E74G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113444
Gene: ENSMUSG00000047084
AA Change: E74G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
coiled coil region	46	70	N/A	INTRINSIC
Pfam:Neugrin	73	293	1.2e-99	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138005

Predicted Effect

probably benign
Transcript: ENSMUST00000205270

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Adgrl3	A	G	5: 81,836,410 (GRCm39)	R723G	probably damaging	Het
Ankrd52	C	A	10: 128,222,881 (GRCm39)	N610K	probably benign	Het
Atp2a3	A	G	11: 72,879,287 (GRCm39)		probably null	Het
Bahcc1	G	A	11: 120,163,714 (GRCm39)	A671T	probably benign	Het
Col6a5	A	T	9: 105,769,471 (GRCm39)	Y1764*	probably null	Het
E2f8	A	G	7: 48,517,424 (GRCm39)	V793A	probably benign	Het
Erbin	A	G	13: 103,970,400 (GRCm39)	I1072T	probably benign	Het
Exoc2	T	C	13: 31,060,780 (GRCm39)	I575V	probably benign	Het
Fbxw19	C	T	9: 109,324,834 (GRCm39)	V28M	probably damaging	Het
Flt1	G	A	5: 147,540,403 (GRCm39)	T762M	probably benign	Het
Ghitm	C	A	14: 36,847,166 (GRCm39)	A303S	probably damaging	Het
Gm18856	T	A	13: 14,140,319 (GRCm39)		probably benign	Het
Gm5493	T	A	17: 22,967,069 (GRCm39)	H68Q	possibly damaging	Het
Hells	T	G	19: 38,942,093 (GRCm39)	I461S	probably benign	Het
Inpp4a	T	A	1: 37,416,829 (GRCm39)	I450N	probably damaging	Het
Kbtbd6	T	A	14: 79,690,553 (GRCm39)	V353D	probably damaging	Het
Kifap3	A	T	1: 163,696,338 (GRCm39)	T656S	possibly damaging	Het
Med23	A	T	10: 24,781,932 (GRCm39)	K713*	probably null	Het
Miga1	A	T	3: 152,041,036 (GRCm39)	F44I	probably benign	Het
Or4k40	T	C	2: 111,251,000 (GRCm39)	S99G	probably benign	Het
Patl2	A	T	2: 121,957,967 (GRCm39)	L97Q	probably damaging	Het
Pcdha1	A	G	18: 37,065,354 (GRCm39)	I673V	probably benign	Het
Pcsk1	A	G	13: 75,275,967 (GRCm39)	T543A	probably benign	Het
Plch1	C	T	3: 63,609,444 (GRCm39)	R912H	probably damaging	Het
Prl8a8	A	G	13: 27,695,447 (GRCm39)	V100A	possibly damaging	Het
Rnase10	T	A	14: 51,246,751 (GRCm39)	V43E	possibly damaging	Het
Robo1	A	G	16: 72,780,717 (GRCm39)	S816G	probably benign	Het
Slc25a34	C	T	4: 141,350,806 (GRCm39)	V68M	probably benign	Het
Slc25a48	A	T	13: 56,612,891 (GRCm39)	E263V	probably damaging	Het
Slc7a14	A	G	3: 31,311,759 (GRCm39)	V87A	probably damaging	Het
Slc8b1	A	G	5: 120,667,665 (GRCm39)	I433V	probably damaging	Het
Smurf1	A	G	5: 144,831,314 (GRCm39)	V259A	possibly damaging	Het
Spag6l	T	A	16: 16,599,652 (GRCm39)	N270I	possibly damaging	Het
Tas2r113	G	A	6: 132,869,977 (GRCm39)	V2M	probably damaging	Het
Tnpo2	T	C	8: 85,780,104 (GRCm39)	V680A	probably damaging	Het
Ttyh3	A	C	5: 140,619,317 (GRCm39)		probably null	Het
Ufl1	A	G	4: 25,251,999 (GRCm39)	S639P	possibly damaging	Het
Znfx1	A	T	2: 166,879,001 (GRCm39)	F928I	possibly damaging	Het

Other mutations in Ngrn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0088:Ngrn	UTSW	7	79,914,203 (GRCm39)	missense	probably damaging	1.00
R0193:Ngrn	UTSW	7	79,911,678 (GRCm39)	missense	probably damaging	1.00
R1452:Ngrn	UTSW	7	79,914,520 (GRCm39)	missense	probably benign	0.00
R4273:Ngrn	UTSW	7	79,914,269 (GRCm39)	missense	probably damaging	1.00
R4554:Ngrn	UTSW	7	79,914,449 (GRCm39)	missense	possibly damaging	0.55
R5964:Ngrn	UTSW	7	79,911,681 (GRCm39)	critical splice donor site	probably null
R7797:Ngrn	UTSW	7	79,914,185 (GRCm39)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGAGTGCTTTAACCTGGCAG -3'
(R):5'- CATAAGCAAGTCCCTGTGCTG -3'

Sequencing Primer
(F):5'- GCTTTAACCTGGCAGACATG -3'
(R):5'- AAGTCCCTGTGCTGATCCCAG -3'

Posted On

2017-08-16