Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01073:Nrxn3'

52427

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01073

Quality Score

Status

Chromosome

Chromosomal Location

88689646-90301709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89221510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 430 (M430V)

Ref Sequence

ENSEMBL: ENSMUSP00000129678 (fasta)

Gene Model

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

AlphaFold

Q6P9K9

Predicted Effect

probably benign
Transcript: ENSMUST00000057634
AA Change: M57V

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000050075
Gene: ENSMUSG00000066392
AA Change: M57V

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: ENSMUST00000163134
AA Change: M430V

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392
AA Change: M430V

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
AA Change: M430V

PolyPhen 2 Score 0.169 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000127407
Gene: ENSMUSG00000066392
AA Change: M430V

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

noncoding transcript
Transcript: ENSMUST00000167734

Predicted Effect

probably benign
Transcript: ENSMUST00000167887
AA Change: M57V

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000127926
Gene: ENSMUSG00000066392
AA Change: M57V

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: M57V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000139879
Gene: ENSMUSG00000066392
AA Change: M57V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194420

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	A	G	10: 81,475,156 (GRCm39)	D110G	possibly damaging	Het
Ccnd3	A	G	17: 47,905,770 (GRCm39)	T104A	probably benign	Het
Cntnap5b	A	T	1: 100,003,755 (GRCm39)	D245V	probably benign	Het
Cryab	A	G	9: 50,665,855 (GRCm39)	K82R	probably damaging	Het
Dnmt3b	G	A	2: 153,512,762 (GRCm39)		probably benign	Het
Eif2b5	A	T	16: 20,319,046 (GRCm39)	K99*	probably null	Het
Fam222b	A	G	11: 78,045,314 (GRCm39)	I292V	probably damaging	Het
Itpr1	A	C	6: 108,390,781 (GRCm39)	N1560T	probably benign	Het
Lca5	T	A	9: 83,277,528 (GRCm39)	K605N	probably damaging	Het
Letm1	T	C	5: 33,906,144 (GRCm39)	D424G	possibly damaging	Het
Mtif3	C	A	5: 146,895,790 (GRCm39)	R99L	probably damaging	Het
Or4c121	A	T	2: 89,023,481 (GRCm39)	L299Q	possibly damaging	Het
Pgap2	T	A	7: 101,875,661 (GRCm39)		probably benign	Het
Phf11c	A	T	14: 59,626,797 (GRCm39)	S129T	probably benign	Het
Ptpro	A	G	6: 137,354,086 (GRCm39)	N154S	probably damaging	Het
Rfng	C	T	11: 120,674,747 (GRCm39)	R81H	probably benign	Het
Rnf38	A	G	4: 44,137,645 (GRCm39)	M280T	probably benign	Het
Rrp7a	G	A	15: 83,002,282 (GRCm39)	A185V	probably benign	Het
Slc22a2	C	A	17: 12,803,236 (GRCm39)	F23L	probably benign	Het
Slc35f1	A	G	10: 52,898,056 (GRCm39)	T156A	probably benign	Het
Slfn1	A	T	11: 83,012,163 (GRCm39)	Y93F	probably benign	Het
Snrnp200	A	T	2: 127,056,832 (GRCm39)		probably benign	Het
Sos1	A	G	17: 80,730,176 (GRCm39)	F701S	probably damaging	Het
Tmem203	A	C	2: 25,145,736 (GRCm39)	I19L	probably benign	Het
Usp8	A	T	2: 126,560,034 (GRCm39)	K18N	probably damaging	Het
Vmn2r115	G	A	17: 23,564,971 (GRCm39)	R286K	probably benign	Het
Vmn2r23	A	C	6: 123,689,759 (GRCm39)	T212P	possibly damaging	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
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
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

Posted On

2013-06-21