Mutagenetix > Incidental Mutation

Incidental Mutation 'R6434:Nrxn3'

518718

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

044572-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6434 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88689646-90301709 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88762285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 111 (F111L)

Ref Sequence

ENSEMBL: ENSMUSP00000129678 (fasta)

Gene Model

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

AlphaFold

Q6P9K9

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000110138

Predicted Effect

probably benign
Transcript: ENSMUST00000163134
AA Change: F111L

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392
AA Change: F111L

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

noncoding transcript
Transcript: ENSMUST00000163944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164072

Predicted Effect

probably benign
Transcript: ENSMUST00000167103
AA Change: F111L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000127407
Gene: ENSMUSG00000066392
AA Change: F111L

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

noncoding transcript
Transcript: ENSMUST00000190030

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

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

98% (57/58)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	A	C	16: 52,109,190 (GRCm39)		probably null	Het
Ankle2	A	G	5: 110,401,759 (GRCm39)	Y807C	probably damaging	Het
Arhgef26	A	C	3: 62,336,335 (GRCm39)	M625L	probably damaging	Het
Aspdh	G	A	7: 44,116,474 (GRCm39)	A86T	probably damaging	Het
Atl1	G	T	12: 70,006,199 (GRCm39)	E502*	probably null	Het
Atp6v1c1	T	C	15: 38,677,790 (GRCm39)	F105S	probably damaging	Het
Auh	C	A	13: 53,083,446 (GRCm39)	G17C	probably benign	Het
Ccdc81	T	C	7: 89,525,352 (GRCm39)	Y474C	probably damaging	Het
Ccdc82	T	C	9: 13,251,659 (GRCm39)		probably benign	Het
Ccdc96	T	G	5: 36,643,707 (GRCm39)	V571G	probably damaging	Het
Col6a5	C	A	9: 105,814,544 (GRCm39)	E489D	unknown	Het
Dchs2	T	A	3: 83,176,577 (GRCm39)	I845N	probably damaging	Het
Dnajc11	T	C	4: 152,063,751 (GRCm39)	V449A	probably damaging	Het
Ect2	A	T	3: 27,193,268 (GRCm39)	Y269*	probably null	Het
Egfr	T	C	11: 16,819,294 (GRCm39)	Y275H	probably benign	Het
Fan1	T	A	7: 64,004,129 (GRCm39)	D779V	probably damaging	Het
Fancm	T	C	12: 65,123,942 (GRCm39)	V200A	probably damaging	Het
Frem1	A	G	4: 82,884,253 (GRCm39)	I1214T	probably benign	Het
Gm3415	T	A	5: 146,494,752 (GRCm39)	F138L	probably benign	Het
Gtse1	C	A	15: 85,759,370 (GRCm39)	T626K	probably benign	Het
Herc1	T	A	9: 66,393,464 (GRCm39)	H4114Q	probably damaging	Het
Ifi44	T	A	3: 151,454,826 (GRCm39)	N133I	probably benign	Het
Ilf3	A	G	9: 21,314,447 (GRCm39)		probably benign	Het
Inpp4a	A	G	1: 37,437,919 (GRCm39)	T593A	probably damaging	Het
Iqgap2	A	T	13: 95,819,441 (GRCm39)	W634R	possibly damaging	Het
Kcnh4	T	A	11: 100,641,105 (GRCm39)	N448I	probably damaging	Het
Klhl33	G	A	14: 51,130,564 (GRCm39)	A310V	probably damaging	Het
Klra9	G	T	6: 130,155,995 (GRCm39)	Y253*	probably null	Het
Lrig2	T	C	3: 104,398,863 (GRCm39)	K222E	possibly damaging	Het
Manba	G	A	3: 135,217,734 (GRCm39)		probably null	Het
Mga	A	T	2: 119,754,419 (GRCm39)	Q976L	probably damaging	Het
Mtmr4	A	G	11: 87,504,309 (GRCm39)	D1086G	probably damaging	Het
Muc20	A	G	16: 32,615,176 (GRCm39)	V67A	probably benign	Het
Myh3	T	A	11: 66,973,193 (GRCm39)	L97Q	probably damaging	Het
Nars1	T	C	18: 64,640,872 (GRCm39)	T195A	probably benign	Het
Npat	A	T	9: 53,474,739 (GRCm39)	I844L	possibly damaging	Het
Obp2b	T	C	2: 25,628,599 (GRCm39)	Y118H	probably damaging	Het
Or5w1	T	A	2: 87,486,558 (GRCm39)	K236*	probably null	Het
Or7e170	A	T	9: 19,795,141 (GRCm39)	Y153*	probably null	Het
Patj	A	G	4: 98,379,866 (GRCm39)	D215G	probably damaging	Het
Pex1	T	A	5: 3,680,196 (GRCm39)	Y979*	probably null	Het
Septin3	G	A	15: 82,163,804 (GRCm39)	V54I	possibly damaging	Het
Shc3	A	G	13: 51,603,326 (GRCm39)	Y260H	probably damaging	Het
Simc1	A	G	13: 54,674,477 (GRCm39)	T942A	probably benign	Het
Slco1c1	T	C	6: 141,493,576 (GRCm39)	S371P	probably damaging	Het
Snrnp200	T	A	2: 127,080,574 (GRCm39)	I2029N	probably damaging	Het
Syne1	A	G	10: 5,268,422 (GRCm39)	V2089A	probably benign	Het
Syne2	T	C	12: 76,088,230 (GRCm39)	S5016P	probably damaging	Het
Tril	G	C	6: 53,795,493 (GRCm39)	D576E	probably damaging	Het
Tubb2b	C	T	13: 34,311,561 (GRCm39)	A411T	probably damaging	Het
Ubr4	T	C	4: 139,156,949 (GRCm39)	Y2325H	probably damaging	Het
Utp20	A	T	10: 88,608,395 (GRCm39)	C1547*	probably null	Het
Utrn	A	T	10: 12,401,171 (GRCm39)	W98R	probably damaging	Het
Vps35	C	T	8: 86,000,124 (GRCm39)	D501N	possibly damaging	Het
Wdr48	T	C	9: 119,745,879 (GRCm39)	S421P	possibly damaging	Het
Yju2b	A	G	8: 84,989,630 (GRCm39)	I63T	probably damaging	Het
Zfp719	C	A	7: 43,240,412 (GRCm39)	H667N	probably 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
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'- ACCTGAGCTTCCAGTTCAAG -3'
(R):5'- TTGCCATACTTGAGATCCAGC -3'

Sequencing Primer
(F):5'- AGACCAATGTTTCCACTGGG -3'
(R):5'- TTAAAGCCAGGCATGCTCTG -3'

Posted On

2018-05-24