Mutagenetix > Incidental Mutation

Incidental Mutation 'R8523:Negr1'

658632

Institutional Source

Beutler Lab

Gene Symbol

Negr1

Ensembl Gene

ENSMUSG00000040037

Gene Name

neuronal growth regulator 1

Synonyms

neurotractin, Ntra, 5330422G01Rik

MMRRC Submission

067948-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8523 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

156267431-157022082 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 156866297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 282 (T282M)

Ref Sequence

ENSEMBL: ENSMUSP00000101680 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041425] [ENSMUST00000074015] [ENSMUST00000106065]

AlphaFold

Q80Z24

Predicted Effect

probably damaging
Transcript: ENSMUST00000041425
AA Change: T282M

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

SMART Domains

Protein: ENSMUSP00000041132
Gene: ENSMUSG00000040037
AA Change: T282M

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
IG	39	130	2.52e-9	SMART
IGc2	145	204	3.22e-16	SMART
IGc2	230	298	3.82e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000074015
AA Change: T282M

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

SMART Domains

Protein: ENSMUSP00000073664
Gene: ENSMUSG00000040037
AA Change: T282M

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
IG	39	130	2.52e-9	SMART
IGc2	145	204	3.22e-16	SMART
IGc2	230	298	3.82e-9	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000106065
AA Change: T282M

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

SMART Domains

Protein: ENSMUSP00000101680
Gene: ENSMUSG00000040037
AA Change: T282M

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
IG	39	130	2.52e-9	SMART
IGc2	145	204	3.22e-16	SMART
IGc2	230	298	3.82e-9	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out or ENU-induced allele exhibit reduced body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Ammecr1l	T	C	18: 31,905,152 (GRCm39)	F131S	probably damaging	Het
Apbb1ip	A	C	2: 22,709,648 (GRCm39)	D35A	unknown	Het
Arhgap12	A	T	18: 6,111,976 (GRCm39)	D129E	probably benign	Het
Arpc1b	A	G	5: 145,061,492 (GRCm39)	D163G	probably damaging	Het
Atxn7l1	A	T	12: 33,396,023 (GRCm39)	T251S	probably benign	Het
Best1	T	C	19: 9,969,027 (GRCm39)	I230V	possibly damaging	Het
Brca2	A	G	5: 150,483,613 (GRCm39)	T2888A	possibly damaging	Het
Cad	T	C	5: 31,215,450 (GRCm39)	V87A	probably damaging	Het
Ccdc168	A	T	1: 44,099,994 (GRCm39)	I368K	possibly damaging	Het
Ccdc39	C	T	3: 33,869,560 (GRCm39)		probably null	Het
Clcn1	T	A	6: 42,284,523 (GRCm39)	C548*	probably null	Het
Col18a1	A	G	10: 76,890,068 (GRCm39)	S1678P	probably damaging	Het
Col6a6	T	C	9: 105,651,987 (GRCm39)	N1008S	possibly damaging	Het
Defb41	A	T	1: 18,321,519 (GRCm39)	C32S	possibly damaging	Het
Dnah6	T	C	6: 73,072,171 (GRCm39)	N2437S	probably damaging	Het
Drosha	T	C	15: 12,834,408 (GRCm39)	Y171H	unknown	Het
Ehd1	T	C	19: 6,344,613 (GRCm39)	L291P	probably damaging	Het
Eif3c	A	T	7: 126,147,069 (GRCm39)	H734Q	possibly damaging	Het
Erich5	A	T	15: 34,471,502 (GRCm39)	T244S	probably benign	Het
Fam186b	T	A	15: 99,177,613 (GRCm39)	H571L	probably benign	Het
Fer1l5	A	G	1: 36,426,271 (GRCm39)	K360E	probably benign	Het
Fga	A	T	3: 82,938,158 (GRCm39)	I178F	probably damaging	Het
Gale	A	T	4: 135,694,987 (GRCm39)	T320S	probably benign	Het
Gm11232	A	T	4: 71,675,465 (GRCm39)	S99T	probably benign	Het
Gpr137	C	T	19: 6,917,803 (GRCm39)	W94*	probably null	Het
Grm7	T	A	6: 111,223,280 (GRCm39)	M440K	possibly damaging	Het
Hacd4	A	G	4: 88,353,286 (GRCm39)	F69L	probably damaging	Het
Hdac7	T	A	15: 97,706,251 (GRCm39)	H304L	probably damaging	Het
Herc1	T	A	9: 66,358,224 (GRCm39)	I2435N	probably benign	Het
Itgb7	G	A	15: 102,124,957 (GRCm39)	R755W	probably damaging	Het
Kdm3b	G	T	18: 34,926,129 (GRCm39)	A90S	probably benign	Het
Mcmdc2	G	A	1: 9,981,946 (GRCm39)	M1I	probably null	Het
Mitd1	A	G	1: 37,918,639 (GRCm39)		probably null	Het
Myh10	A	T	11: 68,688,235 (GRCm39)	Q1232L	probably benign	Het
Myo1a	C	A	10: 127,547,027 (GRCm39)	N362K	probably damaging	Het
N4bp1	G	A	8: 87,579,789 (GRCm39)	T671I	probably damaging	Het
Nav3	A	T	10: 109,659,138 (GRCm39)	D826E	probably damaging	Het
Notch1	G	A	2: 26,354,917 (GRCm39)	H1837Y	possibly damaging	Het
Or2m12	A	T	16: 19,104,851 (GRCm39)	V214E	probably benign	Het
Or52e19b	A	T	7: 103,032,413 (GRCm39)	F265L	probably benign	Het
Or5m13	T	A	2: 85,748,407 (GRCm39)	I46N	probably damaging	Het
Or7e177	A	G	9: 20,212,093 (GRCm39)	N200S	probably benign	Het
Pard6a	T	C	8: 106,428,881 (GRCm39)	C47R	probably benign	Het
Parp2	T	C	14: 51,057,247 (GRCm39)		probably null	Het
Pck1	C	A	2: 172,999,064 (GRCm39)	A410D	probably damaging	Het
Pdzph1	G	A	17: 59,191,008 (GRCm39)	L85F	probably damaging	Het
Piezo2	A	G	18: 63,279,873 (GRCm39)	S1P	probably damaging	Het
Pld1	T	A	3: 28,140,025 (GRCm39)	V615D	probably damaging	Het
Plekha7	T	G	7: 115,907,164 (GRCm39)	I23L	probably benign	Het
Prkcz	T	G	4: 155,346,968 (GRCm39)	D388A	probably damaging	Het
Rab36	A	G	10: 74,888,335 (GRCm39)	R260G	probably benign	Het
Reln	C	A	5: 22,209,229 (GRCm39)	R1116S	probably damaging	Het
Rskr	A	T	11: 78,184,210 (GRCm39)	M225L	probably benign	Het
Rundc3b	T	G	5: 8,619,505 (GRCm39)	K151Q	probably damaging	Het
Scaf11	A	G	15: 96,316,988 (GRCm39)	S859P	probably damaging	Het
Slc25a32	C	T	15: 38,963,281 (GRCm39)	R180H	probably benign	Het
Slc4a9	G	A	18: 36,665,196 (GRCm39)	G443E	possibly damaging	Het
Slmap	T	A	14: 26,150,965 (GRCm39)	K534N	probably damaging	Het
Sncaip	G	A	18: 52,971,088 (GRCm39)	A3T	probably damaging	Het
Spata31d1c	G	T	13: 65,180,991 (GRCm39)	S30I	probably damaging	Het
Srrm1	A	T	4: 135,051,313 (GRCm39)	V789E	unknown	Het
Srrm2	A	T	17: 24,027,489 (GRCm39)		probably benign	Het
St7l	T	C	3: 104,775,373 (GRCm39)	F83S	probably damaging	Het
Taf15	C	T	11: 83,375,678 (GRCm39)	Q48*	probably null	Het
Tek	A	T	4: 94,687,403 (GRCm39)	D172V	probably benign	Het
Tmem232	T	C	17: 65,785,366 (GRCm39)	Y198C	probably damaging	Het
Tns3	A	T	11: 8,398,779 (GRCm39)	V1191E	probably damaging	Het
Togaram1	A	G	12: 65,067,088 (GRCm39)	D1710G	probably damaging	Het
Trav16d-dv11	T	C	14: 53,285,122 (GRCm39)	I66T	probably benign	Het
Ttn	T	A	2: 76,577,289 (GRCm39)	T24535S	possibly damaging	Het
Ttn	A	T	2: 76,730,087 (GRCm39)	L911*	probably null	Het
Ube4a	A	G	9: 44,861,130 (GRCm39)	S227P	probably damaging	Het
Ubqln1	T	C	13: 58,339,569 (GRCm39)	T352A	probably benign	Het
Vmn1r174	C	T	7: 23,454,182 (GRCm39)	P283S	probably damaging	Het
Vmn1r59	T	C	7: 5,457,053 (GRCm39)	T236A	probably damaging	Het
Vmn2r3	T	C	3: 64,182,311 (GRCm39)	I463V	probably benign	Het
Wdr95	A	G	5: 149,497,461 (GRCm39)	D213G	probably damaging	Het
Zbtb49	T	A	5: 38,370,669 (GRCm39)	H404L	probably damaging	Het
Zfp879	A	G	11: 50,728,757 (GRCm39)	M79T	probably benign	Het
Zmiz2	G	A	11: 6,352,441 (GRCm39)	C600Y	probably damaging	Het

Other mutations in Negr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01284:Negr1	APN	3	156,851,854 (GRCm39)	missense	probably damaging	1.00
IGL01635:Negr1	APN	3	156,267,929 (GRCm39)	missense	probably benign	0.00
IGL02006:Negr1	APN	3	156,721,810 (GRCm39)	splice site	probably benign
IGL02427:Negr1	APN	3	156,267,827 (GRCm39)	start gained	probably benign
IGL02542:Negr1	APN	3	156,267,862 (GRCm39)	missense	probably damaging	1.00
PIT4466001:Negr1	UTSW	3	156,565,235 (GRCm39)	missense	probably benign	0.44
R0241:Negr1	UTSW	3	156,914,036 (GRCm39)	intron	probably benign
R0496:Negr1	UTSW	3	156,721,904 (GRCm39)	missense	probably damaging	1.00
R0506:Negr1	UTSW	3	156,866,385 (GRCm39)	splice site	probably benign
R0507:Negr1	UTSW	3	156,267,862 (GRCm39)	missense	probably damaging	0.97
R0634:Negr1	UTSW	3	156,721,903 (GRCm39)	missense	possibly damaging	0.51
R1324:Negr1	UTSW	3	156,774,860 (GRCm39)	missense	probably damaging	1.00
R1923:Negr1	UTSW	3	156,267,836 (GRCm39)	missense	probably benign	0.06
R4569:Negr1	UTSW	3	156,914,013 (GRCm39)	intron	probably benign
R4592:Negr1	UTSW	3	156,914,023 (GRCm39)	intron	probably benign
R4874:Negr1	UTSW	3	156,565,082 (GRCm39)	missense	probably damaging	0.98
R5137:Negr1	UTSW	3	156,721,833 (GRCm39)	missense	probably damaging	0.99
R5330:Negr1	UTSW	3	156,774,913 (GRCm39)	nonsense	probably null
R5331:Negr1	UTSW	3	156,774,913 (GRCm39)	nonsense	probably null
R5974:Negr1	UTSW	3	156,774,923 (GRCm39)	missense	probably damaging	1.00
R6560:Negr1	UTSW	3	157,018,494 (GRCm39)	missense	probably benign
R7506:Negr1	UTSW	3	156,774,870 (GRCm39)	nonsense	probably null
R7677:Negr1	UTSW	3	156,774,823 (GRCm39)	nonsense	probably null
R8080:Negr1	UTSW	3	156,866,357 (GRCm39)	missense	probably damaging	1.00
R8950:Negr1	UTSW	3	156,721,906 (GRCm39)	missense	probably damaging	1.00
R8997:Negr1	UTSW	3	156,721,918 (GRCm39)	missense	probably damaging	1.00
R9082:Negr1	UTSW	3	156,774,876 (GRCm39)	nonsense	probably null
R9317:Negr1	UTSW	3	156,904,081 (GRCm39)	missense	probably benign	0.00
R9691:Negr1	UTSW	3	156,267,898 (GRCm39)	missense	probably damaging	0.98
R9715:Negr1	UTSW	3	156,774,936 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAACAGAACTAACACCATGTTGG -3'
(R):5'- GTCTAAGCTGAGCATACTCCG -3'

Sequencing Primer
(F):5'- GGTGTGGTCACATGATAGCTTCC -3'
(R):5'- CGTTGGTTGTACCCAACT -3'

Posted On

2021-01-18