Mutagenetix > Incidental Mutation

Incidental Mutation 'R1637:Nrxn3'

173260

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

039673-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88689646-90301709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89321238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 382 (N382S)

Ref Sequence

ENSEMBL: ENSMUSP00000127926 (fasta)

Gene Model

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

AlphaFold

Q6P9K9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000057634
AA Change: N382S

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000050075
Gene: ENSMUSG00000066392
AA Change: N382S

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

possibly damaging
Transcript: ENSMUST00000163134
AA Change: N755S

PolyPhen 2 Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392
AA Change: N755S

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 benign
Transcript: ENSMUST00000167103

SMART Domains

Protein: ENSMUSP00000127407
Gene: ENSMUSG00000066392

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: N382S

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000127926
Gene: ENSMUSG00000066392
AA Change: N382S

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 benign
Transcript: ENSMUST00000190626
AA Change: N382S

PolyPhen 2 Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000139879
Gene: ENSMUSG00000066392
AA Change: N382S

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

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	A	5: 109,886,858 (GRCm39)	H50L	probably benign	Het
A2m	C	A	6: 121,631,571 (GRCm39)	L623M	probably benign	Het
Agpat5	A	G	8: 18,931,827 (GRCm39)	R316G	probably benign	Het
Ankrd39	G	A	1: 36,578,573 (GRCm39)	Q151*	probably null	Het
Arl13b	T	C	16: 62,651,147 (GRCm39)	D30G	probably damaging	Het
Atpaf1	A	G	4: 115,645,499 (GRCm39)	S123G	probably benign	Het
Bicra	A	G	7: 15,706,614 (GRCm39)	S1276P	probably benign	Het
Car1	T	C	3: 14,842,846 (GRCm39)	I60V	possibly damaging	Het
Cnbd2	A	G	2: 156,215,644 (GRCm39)	I411V	probably damaging	Het
Cyp2c37	A	T	19: 39,990,426 (GRCm39)	K375*	probably null	Het
Cysrt1	T	C	2: 25,129,297 (GRCm39)	I72V	probably benign	Het
Dock9	T	A	14: 121,889,187 (GRCm39)	D312V	possibly damaging	Het
Ecd	T	C	14: 20,396,760 (GRCm39)	I42V	probably damaging	Het
Ercc5	A	G	1: 44,206,694 (GRCm39)	T536A	probably benign	Het
Gjd2	A	T	2: 113,841,789 (GRCm39)	Y229*	probably null	Het
Gramd1b	A	T	9: 40,215,834 (GRCm39)		probably null	Het
Hcrtr2	T	C	9: 76,140,281 (GRCm39)	T336A	probably benign	Het
Hjurp	G	A	1: 88,193,843 (GRCm39)	S279F	probably benign	Het
Ift140	C	T	17: 25,244,608 (GRCm39)	L152F	probably benign	Het
Izumo1r	A	G	9: 14,813,105 (GRCm39)	C56R	probably damaging	Het
Kif7	T	C	7: 79,352,585 (GRCm39)	E850G	probably damaging	Het
Larp4b	C	G	13: 9,201,133 (GRCm39)	T335S	probably benign	Het
Lmo7	A	T	14: 102,118,268 (GRCm39)	R42S	probably damaging	Het
Lrrk2	T	G	15: 91,618,261 (GRCm39)	L920R	probably benign	Het
Mapk8	G	A	14: 33,132,919 (GRCm39)	R6C	probably benign	Het
Mpped1	C	T	15: 83,676,191 (GRCm39)		probably benign	Het
Myoc	A	G	1: 162,466,936 (GRCm39)	Y35C	probably damaging	Het
Ndufb8	C	T	19: 44,543,474 (GRCm39)	M66I	probably benign	Het
Nkpd1	T	C	7: 19,257,904 (GRCm39)	I411T	probably benign	Het
Or2t47	A	T	11: 58,442,246 (GRCm39)	V273E	possibly damaging	Het
Or4c114	A	T	2: 88,905,396 (GRCm39)	L13Q	probably damaging	Het
Pear1	T	C	3: 87,664,060 (GRCm39)	E303G	probably damaging	Het
Plekhg4	T	A	8: 106,108,413 (GRCm39)	M1047K	probably benign	Het
Pofut1	T	G	2: 153,107,709 (GRCm39)	F268C	probably damaging	Het
Psrc1	G	T	3: 108,292,609 (GRCm39)	S134I	probably damaging	Het
Slc6a2	A	T	8: 93,708,618 (GRCm39)	I245F	probably benign	Het
Slc9a1	T	C	4: 133,149,534 (GRCm39)	S787P	probably benign	Het
Sorcs3	T	A	19: 48,736,798 (GRCm39)		probably null	Het
Syne2	C	A	12: 76,042,776 (GRCm39)	H3916N	probably damaging	Het
Taar6	A	G	10: 23,861,079 (GRCm39)	S156P	probably benign	Het
Tnn	A	G	1: 159,975,170 (GRCm39)	F86L	probably damaging	Het
Tspear	T	A	10: 77,706,253 (GRCm39)	L341H	possibly damaging	Het
Ttll8	A	G	15: 88,798,647 (GRCm39)	V696A	probably benign	Het
Utrn	C	A	10: 12,312,108 (GRCm39)	D616Y	probably damaging	Het
Vmn2r18	A	T	5: 151,508,222 (GRCm39)	C301S	probably damaging	Het
Xdh	T	C	17: 74,207,573 (GRCm39)	Y928C	probably benign	Het
Zfand1	G	A	3: 10,411,042 (GRCm39)	A104V	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
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
R2284:Nrxn3	UTSW	12	89,477,135 (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'- GCCCAACCTAAAGTGAGGGTGGA -3'
(R):5'- TGCTCACCAGCAGAGACACCATA -3'

Sequencing Primer
(F):5'- GCTTTCAAAGATCAGTTTAACGAC -3'
(R):5'- GCAGAGACACCATATACAAAGACTTG -3'

Posted On

2014-04-24