Mutagenetix > Incidental Mutation

Incidental Mutation 'R2284:Nrxn3'

243258

Institutional Source

Beutler Lab

Gene Symbol

Nrxn3

Ensembl Gene

ENSMUSG00000066392

Gene Name

neurexin III

Synonyms

4933401A11Rik, D12Bwg0831e, neurexin III alpha, neurexin III alpha, neurexin III beta, neurexin III beta, 9330112C09Rik

MMRRC Submission

040283-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2284 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88689646-90301709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 89477135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 803 (N803K)

Ref Sequence

ENSEMBL: ENSMUSP00000127407 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057634] [ENSMUST00000163134] [ENSMUST00000167103] [ENSMUST00000167887] [ENSMUST00000190626]

AlphaFold

Q6P9K9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057634
AA Change: N439K

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050075
Gene: ENSMUSG00000066392
AA Change: N439K

Domain	Start	End	E-Value	Type
LamG	94	246	3.28e-41	SMART
EGF	273	307	4.1e-2	SMART
LamG	332	470	4.87e-26	SMART
LamG	518	654	7.08e-37	SMART
EGF	688	722	1.99e1	SMART
LamG	750	907	1.14e-17	SMART
low complexity region	948	964	N/A	INTRINSIC
low complexity region	1028	1043	N/A	INTRINSIC
4.1m	1046	1064	4.38e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000163134
AA Change: N812K

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

SMART Domains

Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392
AA Change: N812K

Domain	Start	End	E-Value	Type
LamG	47	184	9.8e-31	SMART
EGF	201	235	8.07e-1	SMART
LamG	279	413	7.19e-38	SMART
LamG	467	619	3.28e-41	SMART
EGF	646	680	4.1e-2	SMART
LamG	705	843	4.87e-26	SMART
LamG	891	1027	7.08e-37	SMART
EGF	1052	1086	1.99e1	SMART
LamG	1114	1271	1.14e-17	SMART
low complexity region	1312	1328	N/A	INTRINSIC
low complexity region	1395	1406	N/A	INTRINSIC
low complexity region	1499	1514	N/A	INTRINSIC
4.1m	1517	1535	4.38e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167103
AA Change: N803K

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

SMART Domains

Protein: ENSMUSP00000127407
Gene: ENSMUSG00000066392
AA Change: N803K

Domain	Start	End	E-Value	Type
LamG	47	184	9.8e-31	SMART
EGF	201	235	8.07e-1	SMART
LamG	279	413	7.19e-38	SMART
LamG	467	619	3.28e-41	SMART
EGF	646	680	4.1e-2	SMART
LamG	705	834	5.76e-28	SMART
LamG	882	1018	7.08e-37	SMART
EGF	1043	1077	1.99e1	SMART
LamG	1105	1262	1.14e-17	SMART
low complexity region	1303	1319	N/A	INTRINSIC
low complexity region	1354	1382	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167887
AA Change: N439K

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127926
Gene: ENSMUSG00000066392
AA Change: N439K

Domain	Start	End	E-Value	Type
LamG	94	246	3.28e-41	SMART
EGF	273	307	4.1e-2	SMART
LamG	332	470	4.87e-26	SMART
LamG	518	654	7.08e-37	SMART
EGF	688	722	1.99e1	SMART
LamG	750	907	1.14e-17	SMART
low complexity region	948	964	N/A	INTRINSIC
low complexity region	1028	1043	N/A	INTRINSIC
4.1m	1046	1064	4.38e-5	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000190626
AA Change: N439K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000139879
Gene: ENSMUSG00000066392
AA Change: N439K

Domain	Start	End	E-Value	Type
LamG	94	246	2.1e-43	SMART
EGF	273	307	2e-4	SMART
LamG	332	470	3.1e-28	SMART
LamG	518	654	4.4e-39	SMART
EGF	688	722	9.6e-2	SMART
LamG	750	877	1.1e-22	SMART
low complexity region	918	934	N/A	INTRINSIC
low complexity region	972	1000	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (32/32)

MGI Phenotype

FUNCTION: This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. [provided by RefSeq, Dec 2012]
PHENOTYPE: Twenty percent of mice homozygous for a knock-out allele die postnatally prior to 20 days of age. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adipoq	C	T	16: 22,976,237 (GRCm39)	Q213*	probably null	Het
Adsl	C	T	15: 80,848,096 (GRCm39)	P278L	probably damaging	Het
Bcas2	T	C	3: 103,085,678 (GRCm39)	S187P	probably damaging	Het
Ccdc88a	T	C	11: 29,444,099 (GRCm39)		probably null	Het
Cryzl1	C	T	16: 91,491,193 (GRCm39)		probably benign	Het
Csl	T	A	10: 99,594,321 (GRCm39)	D248V	possibly damaging	Het
Dip2a	A	C	10: 76,149,027 (GRCm39)	V247G	probably benign	Het
Fat2	T	C	11: 55,173,186 (GRCm39)	D2509G	probably damaging	Het
Gldn	G	A	9: 54,193,849 (GRCm39)	W14*	probably null	Het
Gm5698	C	T	1: 31,016,964 (GRCm39)	R29Q	possibly damaging	Het
Gm5830	A	T	1: 78,945,415 (GRCm39)		noncoding transcript	Het
Gtf2ird2	A	G	5: 134,246,025 (GRCm39)	D761G	probably benign	Het
Hdac10	T	C	15: 89,011,607 (GRCm39)	Q159R	probably benign	Het
Hhatl	T	C	9: 121,618,648 (GRCm39)	Y118C	probably damaging	Het
Iho1	C	T	9: 108,298,672 (GRCm39)	E49K	probably damaging	Het
Klrd1	A	G	6: 129,575,344 (GRCm39)	H127R	probably benign	Het
Krtap31-1	C	T	11: 99,799,081 (GRCm39)	Q95*	probably null	Het
Map2	C	T	1: 66,453,227 (GRCm39)	P548S	probably damaging	Het
Mki67	A	G	7: 135,301,674 (GRCm39)	V1120A	probably damaging	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mtmr12	T	A	15: 12,245,097 (GRCm39)	M204K	probably damaging	Het
Muc6	T	C	7: 141,217,837 (GRCm39)	T2279A	possibly damaging	Het
Naip6	C	T	13: 100,437,108 (GRCm39)	A472T	probably benign	Het
Nlrp1b	A	G	11: 71,047,110 (GRCm39)	S1084P	probably benign	Het
Nr2f1	C	A	13: 78,343,581 (GRCm39)	V81F	probably damaging	Het
Or5l14	A	G	2: 87,793,137 (GRCm39)	L33P	probably damaging	Het
Ptpre	A	G	7: 135,271,510 (GRCm39)	H375R	probably benign	Het
Tsc1	G	A	2: 28,555,109 (GRCm39)	V200I	possibly damaging	Het
Vmn1r42	A	G	6: 89,821,681 (GRCm39)	I296T	probably benign	Het
Vmn1r67	A	T	7: 10,181,600 (GRCm39)	H288L	probably damaging	Het
Vmn2r45	A	T	7: 8,488,765 (GRCm39)	N88K	probably benign	Het
Wt1	A	G	2: 105,002,666 (GRCm39)	T511A	probably benign	Het

Other mutations in Nrxn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Nrxn3	APN	12	90,171,366 (GRCm39)	missense	probably damaging	1.00
IGL00961:Nrxn3	APN	12	90,171,320 (GRCm39)	missense	possibly damaging	0.95
IGL01073:Nrxn3	APN	12	89,221,510 (GRCm39)	missense	probably benign	0.25
IGL01338:Nrxn3	APN	12	89,221,804 (GRCm39)	missense	possibly damaging	0.86
IGL01377:Nrxn3	APN	12	89,499,782 (GRCm39)	critical splice donor site	probably null
IGL01409:Nrxn3	APN	12	89,477,128 (GRCm39)	missense	probably damaging	1.00
IGL01764:Nrxn3	APN	12	90,171,524 (GRCm39)	missense	possibly damaging	0.48
IGL02063:Nrxn3	APN	12	88,762,565 (GRCm39)	missense	possibly damaging	0.86
IGL02171:Nrxn3	APN	12	89,159,933 (GRCm39)	missense	probably damaging	1.00
IGL02309:Nrxn3	APN	12	89,943,175 (GRCm39)	missense	probably damaging	0.99
IGL02340:Nrxn3	APN	12	90,171,402 (GRCm39)	missense	possibly damaging	0.82
IGL02343:Nrxn3	APN	12	88,762,123 (GRCm39)	missense	probably damaging	1.00
IGL02600:Nrxn3	APN	12	89,478,682 (GRCm39)	splice site	probably benign
IGL02735:Nrxn3	APN	12	89,221,624 (GRCm39)	missense	probably benign	0.16
IGL03061:Nrxn3	APN	12	89,478,698 (GRCm39)	nonsense	probably null
IGL03206:Nrxn3	APN	12	89,227,278 (GRCm39)	missense	possibly damaging	0.88
IGL03337:Nrxn3	APN	12	89,221,790 (GRCm39)	missense	probably damaging	1.00
R0098:Nrxn3	UTSW	12	89,226,971 (GRCm39)	missense	probably damaging	1.00
R0098:Nrxn3	UTSW	12	89,226,971 (GRCm39)	missense	probably damaging	1.00
R0144:Nrxn3	UTSW	12	89,315,162 (GRCm39)	missense	probably damaging	1.00
R0334:Nrxn3	UTSW	12	89,780,412 (GRCm39)	critical splice donor site	probably null
R0531:Nrxn3	UTSW	12	88,762,112 (GRCm39)	missense	probably damaging	1.00
R0840:Nrxn3	UTSW	12	90,298,567 (GRCm39)	missense	possibly damaging	0.68
R1324:Nrxn3	UTSW	12	89,221,466 (GRCm39)	missense	possibly damaging	0.89
R1438:Nrxn3	UTSW	12	90,298,909 (GRCm39)	missense	probably damaging	1.00
R1484:Nrxn3	UTSW	12	89,221,547 (GRCm39)	missense	probably damaging	0.99
R1621:Nrxn3	UTSW	12	88,762,480 (GRCm39)	missense	probably benign
R1637:Nrxn3	UTSW	12	89,321,238 (GRCm39)	missense	possibly damaging	0.94
R1659:Nrxn3	UTSW	12	90,299,165 (GRCm39)	missense	probably damaging	1.00
R1746:Nrxn3	UTSW	12	89,221,789 (GRCm39)	missense	possibly damaging	0.63
R1801:Nrxn3	UTSW	12	90,250,356 (GRCm39)	missense	probably damaging	1.00
R1912:Nrxn3	UTSW	12	88,762,112 (GRCm39)	missense	probably damaging	1.00
R1940:Nrxn3	UTSW	12	89,227,151 (GRCm39)	missense	probably damaging	0.98
R1993:Nrxn3	UTSW	12	89,227,181 (GRCm39)	missense	possibly damaging	0.59
R2002:Nrxn3	UTSW	12	90,299,089 (GRCm39)	missense	probably damaging	1.00
R2125:Nrxn3	UTSW	12	89,227,290 (GRCm39)	splice site	probably null
R2179:Nrxn3	UTSW	12	89,221,448 (GRCm39)	missense	probably damaging	1.00
R2207:Nrxn3	UTSW	12	89,315,082 (GRCm39)	missense	probably damaging	1.00
R2433:Nrxn3	UTSW	12	89,943,160 (GRCm39)	missense	probably damaging	1.00
R2969:Nrxn3	UTSW	12	89,321,241 (GRCm39)	missense	probably damaging	1.00
R3053:Nrxn3	UTSW	12	89,221,871 (GRCm39)	missense	probably damaging	0.99
R3076:Nrxn3	UTSW	12	89,227,186 (GRCm39)	missense	probably damaging	1.00
R3078:Nrxn3	UTSW	12	89,227,186 (GRCm39)	missense	probably damaging	1.00
R4033:Nrxn3	UTSW	12	89,499,771 (GRCm39)	missense	probably damaging	1.00
R4222:Nrxn3	UTSW	12	89,499,762 (GRCm39)	nonsense	probably null
R4321:Nrxn3	UTSW	12	90,166,005 (GRCm39)	missense	probably damaging	1.00
R4470:Nrxn3	UTSW	12	90,171,515 (GRCm39)	missense	probably damaging	1.00
R4471:Nrxn3	UTSW	12	90,171,515 (GRCm39)	missense	probably damaging	1.00
R4472:Nrxn3	UTSW	12	90,171,515 (GRCm39)	missense	probably damaging	1.00
R4686:Nrxn3	UTSW	12	89,477,421 (GRCm39)	missense	probably damaging	0.99
R4776:Nrxn3	UTSW	12	90,298,730 (GRCm39)	missense	possibly damaging	0.55
R4821:Nrxn3	UTSW	12	90,171,483 (GRCm39)	missense	probably damaging	0.99
R4869:Nrxn3	UTSW	12	88,762,352 (GRCm39)	missense	possibly damaging	0.95
R4910:Nrxn3	UTSW	12	89,227,130 (GRCm39)	missense	possibly damaging	0.72
R4960:Nrxn3	UTSW	12	88,761,971 (GRCm39)	missense	possibly damaging	0.79
R4990:Nrxn3	UTSW	12	89,227,244 (GRCm39)	missense	probably damaging	1.00
R4991:Nrxn3	UTSW	12	89,227,244 (GRCm39)	missense	probably damaging	1.00
R5057:Nrxn3	UTSW	12	89,221,804 (GRCm39)	missense	probably damaging	0.99
R5329:Nrxn3	UTSW	12	89,780,354 (GRCm39)	missense	possibly damaging	0.92
R5888:Nrxn3	UTSW	12	89,478,855 (GRCm39)	missense	possibly damaging	0.91
R6249:Nrxn3	UTSW	12	89,221,448 (GRCm39)	missense	probably damaging	1.00
R6264:Nrxn3	UTSW	12	90,299,011 (GRCm39)	missense	probably damaging	1.00
R6373:Nrxn3	UTSW	12	89,943,237 (GRCm39)	missense	probably damaging	1.00
R6401:Nrxn3	UTSW	12	89,221,770 (GRCm39)	missense	possibly damaging	0.46
R6434:Nrxn3	UTSW	12	88,762,285 (GRCm39)	missense	probably benign	0.32
R6528:Nrxn3	UTSW	12	89,479,819 (GRCm39)	missense	probably damaging	1.00
R6612:Nrxn3	UTSW	12	89,780,102 (GRCm39)	intron	probably benign
R6632:Nrxn3	UTSW	12	89,159,924 (GRCm39)	missense	probably damaging	1.00
R6874:Nrxn3	UTSW	12	90,298,964 (GRCm39)	missense	probably damaging	0.99
R7122:Nrxn3	UTSW	12	89,477,377 (GRCm39)	missense	probably damaging	1.00
R7328:Nrxn3	UTSW	12	88,762,345 (GRCm39)	missense	probably benign
R7352:Nrxn3	UTSW	12	88,817,063 (GRCm39)	missense	probably benign
R7425:Nrxn3	UTSW	12	89,479,870 (GRCm39)	nonsense	probably null
R7444:Nrxn3	UTSW	12	89,477,464 (GRCm39)	missense	probably damaging	1.00
R7483:Nrxn3	UTSW	12	89,477,232 (GRCm39)	missense	probably damaging	1.00
R7599:Nrxn3	UTSW	12	89,478,832 (GRCm39)	missense	probably benign
R7738:Nrxn3	UTSW	12	88,817,074 (GRCm39)	missense	possibly damaging	0.68
R7765:Nrxn3	UTSW	12	89,780,254 (GRCm39)	missense	probably benign	0.03
R8139:Nrxn3	UTSW	12	90,171,438 (GRCm39)	missense	probably benign	0.01
R8192:Nrxn3	UTSW	12	90,171,569 (GRCm39)	missense	probably benign	0.08
R8351:Nrxn3	UTSW	12	89,477,413 (GRCm39)	missense	probably damaging	1.00
R8368:Nrxn3	UTSW	12	90,298,815 (GRCm39)	nonsense	probably null
R8397:Nrxn3	UTSW	12	90,298,583 (GRCm39)	missense	probably benign	0.17
R8426:Nrxn3	UTSW	12	88,762,097 (GRCm39)	missense	possibly damaging	0.91
R8451:Nrxn3	UTSW	12	89,477,413 (GRCm39)	missense	probably damaging	1.00
R8777:Nrxn3	UTSW	12	89,227,234 (GRCm39)	missense	probably damaging	1.00
R8777-TAIL:Nrxn3	UTSW	12	89,227,234 (GRCm39)	missense	probably damaging	1.00
R8844:Nrxn3	UTSW	12	89,153,920 (GRCm39)	missense	possibly damaging	0.88
R8870:Nrxn3	UTSW	12	90,171,560 (GRCm39)	missense	probably benign	0.00
R9043:Nrxn3	UTSW	12	89,227,252 (GRCm39)	missense	probably damaging	1.00
R9102:Nrxn3	UTSW	12	90,298,924 (GRCm39)	missense	probably benign	0.01
R9167:Nrxn3	UTSW	12	89,154,068 (GRCm39)	missense	probably damaging	1.00
R9445:Nrxn3	UTSW	12	89,499,737 (GRCm39)	nonsense	probably null
R9447:Nrxn3	UTSW	12	89,221,678 (GRCm39)	missense	probably benign	0.35
X0019:Nrxn3	UTSW	12	90,165,995 (GRCm39)	missense	probably damaging	1.00
Z1176:Nrxn3	UTSW	12	89,484,679 (GRCm39)	missense	possibly damaging	0.45
Z1176:Nrxn3	UTSW	12	89,153,825 (GRCm39)	nonsense	probably null
Z1177:Nrxn3	UTSW	12	90,298,619 (GRCm39)	missense	probably benign	0.05
Z1177:Nrxn3	UTSW	12	89,227,082 (GRCm39)	missense	probably damaging	1.00
Z1177:Nrxn3	UTSW	12	88,762,458 (GRCm39)	missense	probably benign	0.00
Z1177:Nrxn3	UTSW	12	90,298,888 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGACCTCACTTGCTGACTG -3'
(R):5'- GTCTTAAAAGTGACAGGGTCGGC -3'

Sequencing Primer
(F):5'- ACCTCACTTGCTGACTGAGAGTAG -3'
(R):5'- CGATGATGTTTCTCAGTCCAAAGCG -3'

Posted On

2014-10-16