Mutagenetix > Incidental Mutation

Incidental Mutation 'R1666:Ntf3'

187185

Institutional Source

Beutler Lab

Gene Symbol

Ntf3

Ensembl Gene

ENSMUSG00000049107

Gene Name

neurotrophin 3

Synonyms

NT3, Ntf-3, NT-3

MMRRC Submission

039702-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1666 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

126078375-126143703 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 126079401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 35 (D35G)

Ref Sequence

ENSEMBL: ENSMUSP00000144828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050484] [ENSMUST00000112244] [ENSMUST00000204542]

AlphaFold

P20181

Predicted Effect

probably benign
Transcript: ENSMUST00000050484
AA Change: D22G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000052302
Gene: ENSMUSG00000049107
AA Change: D22G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
NGF	145	250	1.19e-85	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112244
AA Change: D35G

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107863
Gene: ENSMUSG00000049107
AA Change: D35G

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
NGF	158	263	1.19e-85	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204542
AA Change: D35G

PolyPhen 2 Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000144828
Gene: ENSMUSG00000049107
AA Change: D35G

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
NGF	158	263	1.19e-85	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the neurotrophins that have a wide variety of functions in both neural and non-neural tissues. The encoded preproprotein undergoes proteolytic processing to generate a noncovalently linked homodimeric mature protein that can bind to the transmembrane receptor tyrosine kinases to initiate a series of signaling events. Mice lacking the encoded protein exhibit severe defects in the peripheral nervous system including a complete lack of spinal proprioceptive afferents and their peripheral sense organs. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit loss of peripheral sensory and sympathetic neurons, lack of spinal propioceptive afferents and their sense organs, impaired suckling and movement, and postnatal lethality. Heterozygotes show mild defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvrl1	G	A	15: 101,035,458 (GRCm39)	R328H	probably damaging	Het
Afp	T	C	5: 90,652,927 (GRCm39)	S466P	probably damaging	Het
Arhgap45	A	G	10: 79,864,584 (GRCm39)	S879G	possibly damaging	Het
Asic1	A	G	15: 99,597,006 (GRCm39)	D556G	probably damaging	Het
Atp2a3	T	A	11: 72,869,633 (GRCm39)		probably null	Het
Brinp2	C	A	1: 158,074,128 (GRCm39)	E664D	probably damaging	Het
Cap2	C	A	13: 46,768,799 (GRCm39)	H147N	probably damaging	Het
Cd209f	G	A	8: 4,154,862 (GRCm39)	Q79*	probably null	Het
Chrna7	T	C	7: 62,861,890 (GRCm39)	Y54C	possibly damaging	Het
Clec1a	T	C	6: 129,413,967 (GRCm39)	D40G	probably benign	Het
Col11a1	A	G	3: 113,855,184 (GRCm39)	E148G	unknown	Het
Comp	A	T	8: 70,831,607 (GRCm39)		probably null	Het
Cpz	A	G	5: 35,665,460 (GRCm39)		probably null	Het
Cyfip1	T	A	7: 55,521,646 (GRCm39)	N13K	probably damaging	Het
Cyp2c50	A	T	19: 40,079,499 (GRCm39)	M198L	probably benign	Het
Deup1	A	T	9: 15,486,487 (GRCm39)	Y398N	possibly damaging	Het
Elapor1	A	G	3: 108,377,313 (GRCm39)	S434P	probably benign	Het
Epb41l4a	A	G	18: 34,054,962 (GRCm39)	L42P	probably damaging	Het
Exo1	T	C	1: 175,736,052 (GRCm39)	I812T	possibly damaging	Het
Fbxl17	A	T	17: 63,692,060 (GRCm39)		probably null	Het
Fxn	A	G	19: 24,239,377 (GRCm39)	Y172H	probably damaging	Het
Gabra6	A	G	11: 42,208,461 (GRCm39)	S124P	probably damaging	Het
Gje1	C	A	10: 14,592,551 (GRCm39)	W77L	possibly damaging	Het
Glra1	A	G	11: 55,465,225 (GRCm39)	S23P	probably damaging	Het
Gm6811	T	C	17: 21,314,529 (GRCm39)		noncoding transcript	Het
Greb1l	T	A	18: 10,501,080 (GRCm39)		probably null	Het
Greb1l	T	C	18: 10,529,708 (GRCm39)		probably null	Het
Grm6	A	T	11: 50,750,711 (GRCm39)	I625F	probably damaging	Het
Guca1a	A	G	17: 47,711,167 (GRCm39)	F60L	probably damaging	Het
Hectd1	T	A	12: 51,800,607 (GRCm39)	E2070D	possibly damaging	Het
Itga5	G	A	15: 103,256,329 (GRCm39)	T910I	probably benign	Het
Kctd10	A	G	5: 114,507,051 (GRCm39)	V142A	probably benign	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Lmtk3	A	T	7: 45,443,588 (GRCm39)	D757V	probably benign	Het
Lpcat1	T	C	13: 73,658,242 (GRCm39)		probably null	Het
Lrrc30	A	T	17: 67,939,200 (GRCm39)	C127S	probably benign	Het
Mc4r	A	G	18: 66,992,480 (GRCm39)	L211P	probably damaging	Het
Mgat5b	T	A	11: 116,874,474 (GRCm39)	N635K	probably benign	Het
Mms19	A	T	19: 41,940,995 (GRCm39)	M443K	possibly damaging	Het
Mroh5	T	C	15: 73,659,754 (GRCm39)	N359S	probably benign	Het
Nlrc4	G	A	17: 74,752,901 (GRCm39)	T494M	probably damaging	Het
Or5g25	A	T	2: 85,478,157 (GRCm39)	C169*	probably null	Het
Osbpl5	T	C	7: 143,262,776 (GRCm39)	H192R	probably damaging	Het
Parp4	A	T	14: 56,861,620 (GRCm39)	K984N	possibly damaging	Het
Pdgfra	G	A	5: 75,349,681 (GRCm39)	G892D	possibly damaging	Het
Pik3c2g	A	T	6: 139,612,634 (GRCm39)		probably benign	Het
Ppcdc	T	A	9: 57,321,998 (GRCm39)	M181L	possibly damaging	Het
Pramel7	G	A	2: 87,322,747 (GRCm39)	P6S	probably damaging	Het
Prkcz	G	T	4: 155,374,208 (GRCm39)	F69L	probably damaging	Het
Prkd1	G	A	12: 50,441,709 (GRCm39)	H277Y	probably damaging	Het
Ptgs2	A	G	1: 149,977,021 (GRCm39)	Y44C	probably damaging	Het
Rbck1	T	A	2: 152,158,819 (GRCm39)	S488C	probably damaging	Het
Rbl1	T	C	2: 157,001,654 (GRCm39)	Y878C	probably damaging	Het
Rbm6	G	A	9: 107,669,055 (GRCm39)	T619I	probably benign	Het
Rp1	A	G	1: 4,420,086 (GRCm39)	I342T	probably damaging	Het
Rpn2	C	T	2: 157,136,075 (GRCm39)	T161M	possibly damaging	Het
Rufy4	G	A	1: 74,186,837 (GRCm39)	V542I	probably benign	Het
Sema5b	C	T	16: 35,478,852 (GRCm39)	P559S	probably benign	Het
Serpinb3d	A	G	1: 107,008,481 (GRCm39)	V128A	probably benign	Het
Slc35f3	T	A	8: 127,115,960 (GRCm39)	S296T	probably damaging	Het
Slco1a8	T	A	6: 141,927,775 (GRCm39)		probably null	Het
Smarca2	A	G	19: 26,624,434 (GRCm39)	I365V	possibly damaging	Het
Spdya	T	A	17: 71,885,235 (GRCm39)	C230S	probably damaging	Het
Sv2b	G	A	7: 74,856,089 (GRCm39)	A67V	probably benign	Het
Tapbpl	A	G	6: 125,207,164 (GRCm39)	V175A	probably benign	Het
Tmt1a3	A	G	15: 100,233,099 (GRCm39)	I97V	probably benign	Het
Ttn	T	C	2: 76,642,095 (GRCm39)	T13373A	probably damaging	Het
Tubb5	A	T	17: 36,147,530 (GRCm39)	N52K	probably benign	Het
Tyr	T	A	7: 87,142,149 (GRCm39)	Y137F	probably damaging	Het
Unc45b	T	A	11: 82,808,565 (GRCm39)	I217N	probably benign	Het
Vmn1r202	A	T	13: 22,685,540 (GRCm39)	D292E	possibly damaging	Het
Vmn1r22	A	G	6: 57,877,704 (GRCm39)	M91T	probably benign	Het
Washc2	T	A	6: 116,200,215 (GRCm39)		probably null	Het
Zfp566	A	T	7: 29,777,901 (GRCm39)	H93Q	probably benign	Het
Zfp740	A	G	15: 102,116,753 (GRCm39)	D56G	probably damaging	Het
Zfp804b	A	C	5: 6,821,323 (GRCm39)	L580R	possibly damaging	Het
Zmiz2	T	G	11: 6,346,836 (GRCm39)	S148R	probably benign	Het
Zmym6	T	A	4: 127,016,652 (GRCm39)	I719N	probably damaging	Het
Zyx	T	A	6: 42,332,966 (GRCm39)	V372E	possibly damaging	Het

Other mutations in Ntf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02552:Ntf3	APN	6	126,078,823 (GRCm39)	missense	probably damaging	0.99
IGL02982:Ntf3	APN	6	126,079,340 (GRCm39)	missense	probably damaging	0.99
PIT4403001:Ntf3	UTSW	6	126,078,789 (GRCm39)	missense	probably damaging	1.00
R0026:Ntf3	UTSW	6	126,078,768 (GRCm39)	missense	probably damaging	1.00
R1219:Ntf3	UTSW	6	126,079,174 (GRCm39)	missense	possibly damaging	0.93
R1822:Ntf3	UTSW	6	126,079,209 (GRCm39)	missense	probably benign	0.10
R1920:Ntf3	UTSW	6	126,079,485 (GRCm39)	missense	possibly damaging	0.46
R2255:Ntf3	UTSW	6	126,078,689 (GRCm39)	makesense	probably null
R3888:Ntf3	UTSW	6	126,079,405 (GRCm39)	missense	probably benign	0.18
R4196:Ntf3	UTSW	6	126,079,138 (GRCm39)	missense	probably benign	0.41
R6707:Ntf3	UTSW	6	126,141,691 (GRCm39)	critical splice donor site	probably null
R6983:Ntf3	UTSW	6	126,078,808 (GRCm39)	missense	probably damaging	0.98
R7357:Ntf3	UTSW	6	126,078,961 (GRCm39)	missense	probably damaging	1.00
R7663:Ntf3	UTSW	6	126,078,778 (GRCm39)	missense	probably damaging	1.00
R7895:Ntf3	UTSW	6	126,079,203 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCGAATTGTAGCGTCTCTGTTGCC -3'
(R):5'- ACTCTCAGATTGTCAGCCTCGGTG -3'

Sequencing Primer
(F):5'- GCAATCATTGGCTGGAACTC -3'
(R):5'- TGGCTGATGCCAGAATGAC -3'

Posted On

2014-05-09