Mutagenetix > Incidental Mutation

Incidental Mutation 'R6235:Ntng2'

504845

Institutional Source

Beutler Lab

Gene Symbol

Ntng2

Ensembl Gene

ENSMUSG00000035513

Gene Name

netrin G2

Synonyms

Lmnt2, 2610016D08Rik

MMRRC Submission

044433-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R6235 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

29194541-29253005 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29227979 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 152 (E152D)

Ref Sequence

ENSEMBL: ENSMUSP00000099937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048455] [ENSMUST00000071201] [ENSMUST00000091153] [ENSMUST00000102873] [ENSMUST00000177689] [ENSMUST00000183583]

AlphaFold

Q8R4F1

Predicted Effect

probably damaging
Transcript: ENSMUST00000048455
AA Change: E152D

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

SMART Domains

Protein: ENSMUSP00000035468
Gene: ENSMUSG00000035513
AA Change: E152D

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	344	1.41e-5	SMART
low complexity region	372	385	N/A	INTRINSIC
EGF_Lam	413	466	5.28e-5	SMART
EGF_Lam	469	511	4.12e-7	SMART
EGF	515	547	2.26e-4	SMART
low complexity region	574	589	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071201
AA Change: E152D

PolyPhen 2 Score 0.345 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071190
Gene: ENSMUSG00000035513
AA Change: E152D

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	346	9.19e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000091153
AA Change: E152D

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

SMART Domains

Protein: ENSMUSP00000088688
Gene: ENSMUSG00000035513
AA Change: E152D

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	344	1.41e-5	SMART
EGF_Lam	388	441	5.28e-5	SMART
EGF_Lam	444	486	4.12e-7	SMART
EGF	490	522	2.26e-4	SMART
low complexity region	549	564	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102873
AA Change: E152D

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

SMART Domains

Protein: ENSMUSP00000099937
Gene: ENSMUSG00000035513
AA Change: E152D

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	344	1.41e-5	SMART
EGF_Lam	354	407	5.28e-5	SMART
EGF_Lam	410	452	4.12e-7	SMART
EGF	456	488	2.26e-4	SMART
low complexity region	515	530	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149096

Predicted Effect

probably damaging
Transcript: ENSMUST00000177689
AA Change: E152D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136659
Gene: ENSMUSG00000035513
AA Change: E152D

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	344	1.41e-5	SMART
EGF_Lam	354	407	5.28e-5	SMART
EGF_Lam	410	452	4.12e-7	SMART
EGF	456	488	2.26e-4	SMART
low complexity region	515	530	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183583
AA Change: E152D

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139034
Gene: ENSMUSG00000035513
AA Change: E152D

Domain	Start	End	E-Value	Type
LamNT	33	285	2.79e-15	SMART
EGF_Lam	287	344	1.41e-5	SMART
low complexity region	345	368	N/A	INTRINSIC

Meta Mutation Damage Score

0.2335

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.4%

Validation Efficiency

95% (73/77)

MGI Phenotype

FUNCTION: The protein encoded by this gene belongs to a subclass of the netrin family called netrin-G proteins. Unlike classic netrins, which act as diffusible chemoattractants, netrin-Gs are glycosylphosphatidylinositol-anchored membrane proteins that interact with specific transmembrane proteins. In mouse, this gene is preferentially expressed in the cerebral cortex, habenular nucleus and superior colliculus. Knockout mutant mice display a lack of behavioral startle in response to acoustic stimuli. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit an absence of startle reflex and abnormal ABR amplitude. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	T	C	12: 113,491,710 (GRCm38)	F716L	probably benign	Het
Akip1	A	G	7: 109,707,413 (GRCm38)	M106V	probably benign	Het
Aldh1l1	A	T	6: 90,564,457 (GRCm38)	I278F	probably benign	Het
Aplnr	A	G	2: 85,137,626 (GRCm38)	T332A	probably benign	Het
Aqp4	A	G	18: 15,398,113 (GRCm38)	V197A	probably damaging	Het
Arid4a	A	T	12: 71,069,772 (GRCm38)		probably null	Het
Baiap2	A	T	11: 119,981,408 (GRCm38)	N99Y	probably damaging	Het
Ceacam1	A	T	7: 25,471,792 (GRCm38)		probably null	Het
Cep78	T	C	19: 15,976,486 (GRCm38)		probably null	Het
Cldn3	T	C	5: 134,986,719 (GRCm38)	F92S	possibly damaging	Het
Clec16a	C	A	16: 10,694,635 (GRCm38)	P812Q	probably damaging	Het
Cnga4	T	G	7: 105,407,699 (GRCm38)	Y336*	probably null	Het
Copg2	A	G	6: 30,816,071 (GRCm38)	I443T	probably damaging	Het
Crhbp	C	A	13: 95,443,850 (GRCm38)	A81S	probably damaging	Het
Csad	A	T	15: 102,178,606 (GRCm38)	V410D	probably damaging	Het
Ctps	G	A	4: 120,558,806 (GRCm38)	L207F	probably benign	Het
Dab2ip	A	G	2: 35,723,087 (GRCm38)	E1003G	probably damaging	Het
Ddx31	C	G	2: 28,844,842 (GRCm38)	A5G	probably benign	Het
Dnah12	A	T	14: 26,854,804 (GRCm38)	I3004F	probably damaging	Het
Fbxo15	A	G	18: 84,980,904 (GRCm38)		probably benign	Het
Fbxw28	C	A	9: 109,326,190 (GRCm38)	W356C	probably damaging	Het
Gimap6	G	T	6: 48,702,457 (GRCm38)	T215K	probably benign	Het
Gm5346	T	G	8: 43,625,912 (GRCm38)	N425T	probably benign	Het
Hspa4	C	T	11: 53,262,939 (GRCm38)	E702K	probably benign	Het
Hunk	A	G	16: 90,432,706 (GRCm38)	I152V	probably damaging	Het
Itk	T	C	11: 46,336,428 (GRCm38)	E456G	probably benign	Het
Krt40	G	A	11: 99,543,094 (GRCm38)	A22V	possibly damaging	Het
Lars2	T	C	9: 123,411,880 (GRCm38)	V204A	probably damaging	Het
Lipo1	A	G	19: 33,783,563 (GRCm38)	Y140H	probably damaging	Het
Lrp1	G	A	10: 127,588,177 (GRCm38)	R809W	probably damaging	Het
Magi3	C	T	3: 104,016,068 (GRCm38)	G1111D	probably damaging	Het
Mis18bp1	A	T	12: 65,158,408 (GRCm38)	V47E	probably damaging	Het
Mpdz	T	C	4: 81,385,281 (GRCm38)	E140G	probably damaging	Het
Myo1d	T	C	11: 80,692,944 (GRCm38)	I81V	probably benign	Het
Nek10	T	A	14: 14,821,113 (GRCm38)	Y26*	probably null	Het
Olfr1036	T	C	2: 86,075,166 (GRCm38)	L142P	possibly damaging	Het
Olfr1490	C	A	19: 13,654,781 (GRCm38)	C117*	probably null	Het
Otud3	A	T	4: 138,901,901 (GRCm38)	V185D	probably damaging	Het
Parp6	C	T	9: 59,630,815 (GRCm38)	R248W	probably benign	Het
Pcdhga7	A	G	18: 37,716,430 (GRCm38)	T497A	probably benign	Het
Ppp1r18	A	G	17: 35,873,877 (GRCm38)	E140G	probably damaging	Het
Prl3b1	T	C	13: 27,247,945 (GRCm38)	L151P	probably damaging	Het
Pth1r	C	T	9: 110,722,316 (GRCm38)	E572K	possibly damaging	Het
Ptprq	T	A	10: 107,635,338 (GRCm38)	T1401S	possibly damaging	Het
Rad51ap2	A	G	12: 11,457,516 (GRCm38)	T480A	possibly damaging	Het
Rax	T	A	18: 65,935,161 (GRCm38)	Q291L	unknown	Het
Reck	T	C	4: 43,937,450 (GRCm38)	L734P	probably damaging	Het
Rgmb	A	G	17: 15,820,819 (GRCm38)	F169L	probably damaging	Het
Rhobtb3	T	C	13: 75,892,910 (GRCm38)	I426M	probably damaging	Het
Ring1	C	A	17: 34,023,306 (GRCm38)	A76S	probably damaging	Het
Robo3	T	G	9: 37,420,929 (GRCm38)	Y891S	probably damaging	Het
Rpusd2	A	G	2: 119,034,857 (GRCm38)	I12V	probably benign	Het
Rragd	T	C	4: 32,995,985 (GRCm38)	V165A	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,579,909 (GRCm38)		probably benign	Homo
Ryr1	G	T	7: 29,116,181 (GRCm38)	Q95K	probably benign	Het
S1pr4	T	A	10: 81,498,882 (GRCm38)	N253Y	possibly damaging	Het
Scn3a	A	C	2: 65,461,335 (GRCm38)	V1689G	probably damaging	Het
Sdhb	A	G	4: 140,973,673 (GRCm38)	N147D	probably damaging	Het
Sdk1	A	T	5: 142,034,426 (GRCm38)	H913L	possibly damaging	Het
Serpina3i	T	A	12: 104,266,532 (GRCm38)	M232K	probably damaging	Het
Sipa1l2	A	T	8: 125,474,871 (GRCm38)	V646E	probably damaging	Het
Slc38a1	A	T	15: 96,578,792 (GRCm38)	I396N	probably benign	Het
Slc6a13	A	T	6: 121,302,794 (GRCm38)	E42D	probably benign	Het
Stard9	G	A	2: 120,713,546 (GRCm38)	V4442M	probably damaging	Het
Sumo3	T	A	10: 77,616,237 (GRCm38)		probably benign	Het
Syngap1	A	G	17: 26,958,130 (GRCm38)	I356V	probably benign	Het
Tcam1	C	T	11: 106,284,054 (GRCm38)	Q112*	probably null	Het
Tdp2	T	A	13: 24,840,395 (GRCm38)	L225*	probably null	Het
Tmprss7	A	G	16: 45,658,122 (GRCm38)	V747A	probably benign	Het
Ugt2b34	T	A	5: 86,906,364 (GRCm38)	Y186F	probably benign	Het
Usp37	G	T	1: 74,475,133 (GRCm38)	S293*	probably null	Het
Vmn1r36	A	G	6: 66,716,246 (GRCm38)	I109T	probably benign	Het
Vsig10l	T	A	7: 43,468,972 (GRCm38)	V798E	probably benign	Het
Zfp36l1	G	T	12: 80,112,822 (GRCm38)	C18*	probably null	Het
Zfp959	T	C	17: 55,897,427 (GRCm38)	Y152H	probably damaging	Het
Zfyve26	A	T	12: 79,249,599 (GRCm38)	C1949S	probably damaging	Het
Zswim9	T	A	7: 13,261,603 (GRCm38)	E209V	probably damaging	Het

Other mutations in Ntng2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0388:Ntng2	UTSW	2	29,207,426 (GRCm38)	missense	probably damaging	1.00
R0526:Ntng2	UTSW	2	29,197,062 (GRCm38)	missense	probably damaging	1.00
R1835:Ntng2	UTSW	2	29,197,057 (GRCm38)	nonsense	probably null
R1961:Ntng2	UTSW	2	29,197,098 (GRCm38)	missense	probably damaging	1.00
R2507:Ntng2	UTSW	2	29,207,519 (GRCm38)	missense	probably damaging	1.00
R2920:Ntng2	UTSW	2	29,204,211 (GRCm38)	missense	probably benign
R3944:Ntng2	UTSW	2	29,204,277 (GRCm38)	missense	probably benign	0.02
R3954:Ntng2	UTSW	2	29,207,535 (GRCm38)	missense	probably damaging	0.97
R6742:Ntng2	UTSW	2	29,200,928 (GRCm38)	missense	probably benign
R6751:Ntng2	UTSW	2	29,228,043 (GRCm38)	missense	possibly damaging	0.89
R6774:Ntng2	UTSW	2	29,197,090 (GRCm38)	missense	probably damaging	1.00
R6907:Ntng2	UTSW	2	29,228,206 (GRCm38)	missense	probably damaging	1.00
R6964:Ntng2	UTSW	2	29,197,029 (GRCm38)	missense	probably benign	0.02
R6995:Ntng2	UTSW	2	29,197,068 (GRCm38)	missense	probably damaging	1.00
R7214:Ntng2	UTSW	2	29,227,720 (GRCm38)	missense	probably damaging	0.99
R7249:Ntng2	UTSW	2	29,227,992 (GRCm38)	missense	probably benign	0.03
R7825:Ntng2	UTSW	2	29,204,078 (GRCm38)	missense	probably benign	0.00
R8337:Ntng2	UTSW	2	29,248,038 (GRCm38)	start codon destroyed	probably null	0.88
R8775:Ntng2	UTSW	2	29,227,964 (GRCm38)	missense	possibly damaging	0.63
R8775-TAIL:Ntng2	UTSW	2	29,227,964 (GRCm38)	missense	possibly damaging	0.63
R9058:Ntng2	UTSW	2	29,204,190 (GRCm38)	missense	probably benign
R9203:Ntng2	UTSW	2	29,194,986 (GRCm38)	nonsense	probably null
R9319:Ntng2	UTSW	2	29,201,109 (GRCm38)	intron	probably benign
R9411:Ntng2	UTSW	2	29,248,036 (GRCm38)	missense	probably damaging	1.00
R9480:Ntng2	UTSW	2	29,247,985 (GRCm38)	missense	probably damaging	0.99
R9512:Ntng2	UTSW	2	29,227,957 (GRCm38)	missense	possibly damaging	0.89
X0023:Ntng2	UTSW	2	29,197,063 (GRCm38)	nonsense	probably null
X0028:Ntng2	UTSW	2	29,197,149 (GRCm38)	missense	possibly damaging	0.55

Predicted Primers

PCR Primer
(F):5'- TTACCTCAAAGCGCACATGC -3'
(R):5'- ATGAGTGTGATGCCTCCAATCC -3'

Sequencing Primer
(F):5'- GCACATGCTTCTCTTTCTTGGAC -3'
(R):5'- CCCCGGCTTATGTTTGACAGG -3'

Posted On

2018-02-28