Mutagenetix > Incidental Mutation

Incidental Mutation 'R8426:Nrxn3'

653488

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

067820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8426 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88689646-90301709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 88762097 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 48 (R48H)

Ref Sequence

ENSEMBL: ENSMUSP00000129678 (fasta)

Gene Model

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

AlphaFold

Q6P9K9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000163134
AA Change: R48H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392
AA Change: R48H

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

possibly damaging
Transcript: ENSMUST00000167103
AA Change: R48H

PolyPhen 2 Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127407
Gene: ENSMUSG00000066392
AA Change: R48H

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

probably benign
Transcript: ENSMUST00000190626

SMART Domains

Protein: ENSMUSP00000139879
Gene: ENSMUSG00000066392

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	T	C	2: 69,155,606 (GRCm39)	H32R	probably benign	Het
Abcb1b	T	C	5: 8,911,632 (GRCm39)		probably null	Het
Aicda	A	T	6: 122,538,150 (GRCm39)	N103Y	probably damaging	Het
Bsn	T	C	9: 108,003,772 (GRCm39)	E211G	probably damaging	Het
Casp9	T	C	4: 141,540,936 (GRCm39)	Y435H	probably damaging	Het
Catsper2	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT	2: 121,228,053 (GRCm39)		probably benign	Het
Ceacam5	T	C	7: 17,493,266 (GRCm39)	V763A	possibly damaging	Het
Cxcr6	A	G	9: 123,639,071 (GRCm39)	N31S	probably benign	Het
Elapor1	G	A	3: 108,378,742 (GRCm39)	A352V	probably damaging	Het
Gm17728	A	G	17: 9,641,231 (GRCm39)	T114A	probably benign	Het
Gnao1	A	T	8: 94,622,857 (GRCm39)		probably null	Het
Iffo2	A	T	4: 139,342,291 (GRCm39)	Y451F	probably damaging	Het
Ints4	G	A	7: 97,150,239 (GRCm39)	W258*	probably null	Het
Ipo11	T	C	13: 106,978,678 (GRCm39)	D834G	possibly damaging	Het
Kif5a	T	C	10: 127,067,358 (GRCm39)	D853G	probably damaging	Het
Lama4	A	G	10: 38,979,487 (GRCm39)	E1655G	probably damaging	Het
Lepr	G	A	4: 101,671,841 (GRCm39)	S955N	probably benign	Het
Lrp1b	T	C	2: 41,388,318 (GRCm39)	I550V		Het
Mov10l1	T	A	15: 88,881,608 (GRCm39)		probably null	Het
Mroh9	A	T	1: 162,852,294 (GRCm39)	D798E	probably damaging	Het
Myo10	A	G	15: 25,799,576 (GRCm39)	I1380V	probably damaging	Het
Neu2	C	T	1: 87,524,387 (GRCm39)	S124L	probably damaging	Het
Nol6	T	C	4: 41,119,870 (GRCm39)	I543V	probably benign	Het
Ogn	C	T	13: 49,774,567 (GRCm39)	R237C	possibly damaging	Het
Or10aa3	T	C	1: 173,878,146 (GRCm39)	L69P	probably damaging	Het
Or8b46	A	T	9: 38,450,620 (GRCm39)	Y143F	probably damaging	Het
Phf24	C	T	4: 42,933,785 (GRCm39)	Q19*	probably null	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ptch2	G	T	4: 116,965,369 (GRCm39)	S318I	possibly damaging	Het
Sart1	A	G	19: 5,433,769 (GRCm39)	M356T	probably benign	Het
Slit2	A	G	5: 48,382,105 (GRCm39)	N529D	probably benign	Het
Smchd1	A	C	17: 71,755,598 (GRCm39)	D261E	probably damaging	Het
Tcerg1	G	A	18: 42,681,466 (GRCm39)	V538I	possibly damaging	Het
Thada	A	T	17: 84,530,131 (GRCm39)	M1746K	probably benign	Het
Thsd1	A	G	8: 22,733,654 (GRCm39)	I234V	probably benign	Het
Tm9sf4	G	A	2: 153,045,736 (GRCm39)	G536D	probably damaging	Het
Tmprss11c	G	T	5: 86,379,677 (GRCm39)	N410K	probably damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Unc5d	G	T	8: 29,210,016 (GRCm39)	S440Y	probably damaging	Het
Vmn1r44	A	G	6: 89,870,470 (GRCm39)	D72G	probably benign	Het
Vmn1r68	T	C	7: 10,261,382 (GRCm39)	N239D	probably benign	Het
Vmn2r107	T	A	17: 20,577,239 (GRCm39)	H412Q	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
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
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
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'- TATCTAGGGCCGTGTTGTCC -3'
(R):5'- CAACTGCTGTCGTTCACCTG -3'

Sequencing Primer
(F):5'- GCTGATACCTGGCCTACCTG -3'
(R):5'- CACCTGCTTGTTGGATAGCACAG -3'

Posted On

2020-10-20