Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01338:Nrxn3'

74703

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrxn3

Ensembl Gene

ENSMUSG00000066392

Gene Name

neurexin III

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01338

Quality Score

Status

Chromosome

Chromosomal Location

88722876-90334935 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 89255034 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 528 (I528V)

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: I155V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000050075
Gene: ENSMUSG00000066392
AA Change: I155V

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: I528V

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000129678
Gene: ENSMUSG00000066392
AA Change: I528V

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: I528V

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000127407
Gene: ENSMUSG00000066392
AA Change: I528V

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: I155V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000127926
Gene: ENSMUSG00000066392
AA Change: I155V

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: I155V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000139879
Gene: ENSMUSG00000066392
AA Change: I155V

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004E09Rik	T	C	16: 90,926,048	N266S	possibly damaging	Het
Adam23	A	G	1: 63,551,855	T494A	possibly damaging	Het
Adamts16	C	T	13: 70,836,115	C143Y	probably damaging	Het
Cacna1i	A	G	15: 80,348,380	I195V	probably damaging	Het
Casp7	T	C	19: 56,404,464	S17P	probably benign	Het
Cox6a1	C	A	5: 115,345,839		probably benign	Het
Cpvl	T	A	6: 53,974,655	S48C	possibly damaging	Het
Cyp2b19	G	T	7: 26,759,417	M138I	probably benign	Het
Dennd5a	T	C	7: 109,919,404	Y510C	possibly damaging	Het
Derl2	A	G	11: 71,010,355	F229S	possibly damaging	Het
Dlec1	A	G	9: 119,120,911	E452G	probably damaging	Het
Dsc2	T	C	18: 20,047,157	K180E	probably benign	Het
Dus1l	G	A	11: 120,793,092	R177C	possibly damaging	Het
Egfr	A	G	11: 16,863,020	I167V	probably damaging	Het
Fam219b	A	T	9: 57,538,022		probably null	Het
Fn1	T	C	1: 71,626,210	E916G	probably damaging	Het
Gm2058	C	T	7: 39,589,156		noncoding transcript	Het
Gpd1	T	A	15: 99,718,175	V22E	probably damaging	Het
Hsf2	T	C	10: 57,501,379	F124L	probably damaging	Het
I0C0044D17Rik	A	G	4: 98,820,099		probably benign	Het
Igfbp3	A	T	11: 7,208,478	F262I	possibly damaging	Het
Klhl18	A	G	9: 110,455,433	Y62H	probably damaging	Het
Lama2	C	T	10: 27,188,272	E1238K	probably benign	Het
Man1b1	A	G	2: 25,338,227	K170E	probably benign	Het
Mcrs1	A	T	15: 99,249,501	I39N	probably damaging	Het
Mug2	T	C	6: 122,049,628		probably benign	Het
Neu3	C	A	7: 99,813,422	G365W	probably damaging	Het
Nipal3	A	C	4: 135,471,883		probably null	Het
Olfr122	A	T	17: 37,771,839	H71L	possibly damaging	Het
Osbpl8	A	G	10: 111,267,747	K204R	probably damaging	Het
Pax8	A	G	2: 24,435,919	S318P	possibly damaging	Het
Pcdh18	T	A	3: 49,756,141	N242Y	probably damaging	Het
Pkd1l2	T	A	8: 117,059,520	K649*	probably null	Het
Ppm1n	A	T	7: 19,279,254	D257E	probably benign	Het
Pxdn	A	G	12: 30,002,797	E811G	probably damaging	Het
Relb	T	C	7: 19,616,373	I218V	probably benign	Het
Rreb1	T	C	13: 37,931,034	C790R	probably damaging	Het
Rtkn2	G	T	10: 68,025,519	C258F	possibly damaging	Het
Scn11a	G	A	9: 119,784,161		probably benign	Het
Snx8	G	A	5: 140,358,096	R96C	probably damaging	Het
Syne2	A	T	12: 76,060,226	T5649S	possibly damaging	Het
Tm2d3	T	A	7: 65,695,222	C82*	probably null	Het
Tnpo2	T	C	8: 85,040,526	L55P	probably damaging	Het
Tsc22d2	T	C	3: 58,417,415		probably benign	Het
Ttll3	T	G	6: 113,394,729	V19G	probably damaging	Het
Ube2r2	A	G	4: 41,174,119	I86V	probably benign	Het
Vps13d	G	A	4: 145,088,322	T3153I	probably damaging	Het
Wwp1	A	G	4: 19,627,636	I753T	probably damaging	Het

Other mutations in Nrxn3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00911:Nrxn3	APN	12	90204592	missense	probably damaging	1.00
IGL00961:Nrxn3	APN	12	90204546	missense	possibly damaging	0.95
IGL01073:Nrxn3	APN	12	89254740	missense	probably benign	0.25
IGL01377:Nrxn3	APN	12	89533012	critical splice donor site	probably null
IGL01409:Nrxn3	APN	12	89510358	missense	probably damaging	1.00
IGL01764:Nrxn3	APN	12	90204750	missense	possibly damaging	0.48
IGL02063:Nrxn3	APN	12	88795795	missense	possibly damaging	0.86
IGL02171:Nrxn3	APN	12	89193163	missense	probably damaging	1.00
IGL02309:Nrxn3	APN	12	89976407	missense	probably damaging	0.99
IGL02340:Nrxn3	APN	12	90204628	missense	possibly damaging	0.82
IGL02343:Nrxn3	APN	12	88795353	missense	probably damaging	1.00
IGL02600:Nrxn3	APN	12	89511912	splice site	probably benign
IGL02735:Nrxn3	APN	12	89254854	missense	probably benign	0.16
IGL03061:Nrxn3	APN	12	89511928	nonsense	probably null
IGL03206:Nrxn3	APN	12	89260508	missense	possibly damaging	0.88
IGL03337:Nrxn3	APN	12	89255020	missense	probably damaging	1.00
R0098:Nrxn3	UTSW	12	89260201	missense	probably damaging	1.00
R0098:Nrxn3	UTSW	12	89260201	missense	probably damaging	1.00
R0144:Nrxn3	UTSW	12	89348392	missense	probably damaging	1.00
R0334:Nrxn3	UTSW	12	89813642	critical splice donor site	probably null
R0531:Nrxn3	UTSW	12	88795342	missense	probably damaging	1.00
R0840:Nrxn3	UTSW	12	90331793	missense	possibly damaging	0.68
R1324:Nrxn3	UTSW	12	89254696	missense	possibly damaging	0.89
R1438:Nrxn3	UTSW	12	90332135	missense	probably damaging	1.00
R1484:Nrxn3	UTSW	12	89254777	missense	probably damaging	0.99
R1621:Nrxn3	UTSW	12	88795710	missense	probably benign
R1637:Nrxn3	UTSW	12	89354468	missense	possibly damaging	0.94
R1659:Nrxn3	UTSW	12	90332391	missense	probably damaging	1.00
R1746:Nrxn3	UTSW	12	89255019	missense	possibly damaging	0.63
R1801:Nrxn3	UTSW	12	90283582	missense	probably damaging	1.00
R1912:Nrxn3	UTSW	12	88795342	missense	probably damaging	1.00
R1940:Nrxn3	UTSW	12	89260381	missense	probably damaging	0.98
R1993:Nrxn3	UTSW	12	89260411	missense	possibly damaging	0.59
R2002:Nrxn3	UTSW	12	90332315	missense	probably damaging	1.00
R2125:Nrxn3	UTSW	12	89260520	splice site	probably null
R2179:Nrxn3	UTSW	12	89254678	missense	probably damaging	1.00
R2207:Nrxn3	UTSW	12	89348312	missense	probably damaging	1.00
R2284:Nrxn3	UTSW	12	89510365	missense	probably damaging	1.00
R2433:Nrxn3	UTSW	12	89976392	missense	probably damaging	1.00
R2969:Nrxn3	UTSW	12	89354471	missense	probably damaging	1.00
R3053:Nrxn3	UTSW	12	89255101	missense	probably damaging	0.99
R3076:Nrxn3	UTSW	12	89260416	missense	probably damaging	1.00
R3078:Nrxn3	UTSW	12	89260416	missense	probably damaging	1.00
R4033:Nrxn3	UTSW	12	89533001	missense	probably damaging	1.00
R4222:Nrxn3	UTSW	12	89532992	nonsense	probably null
R4321:Nrxn3	UTSW	12	90199231	missense	probably damaging	1.00
R4470:Nrxn3	UTSW	12	90204741	missense	probably damaging	1.00
R4471:Nrxn3	UTSW	12	90204741	missense	probably damaging	1.00
R4472:Nrxn3	UTSW	12	90204741	missense	probably damaging	1.00
R4686:Nrxn3	UTSW	12	89510651	missense	probably damaging	0.99
R4776:Nrxn3	UTSW	12	90331956	missense	possibly damaging	0.55
R4821:Nrxn3	UTSW	12	90204709	missense	probably damaging	0.99
R4869:Nrxn3	UTSW	12	88795582	missense	possibly damaging	0.95
R4910:Nrxn3	UTSW	12	89260360	missense	possibly damaging	0.72
R4960:Nrxn3	UTSW	12	88795201	missense	possibly damaging	0.79
R4990:Nrxn3	UTSW	12	89260474	missense	probably damaging	1.00
R4991:Nrxn3	UTSW	12	89260474	missense	probably damaging	1.00
R5057:Nrxn3	UTSW	12	89255034	missense	probably damaging	0.99
R5329:Nrxn3	UTSW	12	89813584	missense	possibly damaging	0.92
R5888:Nrxn3	UTSW	12	89512085	missense	possibly damaging	0.91
R6249:Nrxn3	UTSW	12	89254678	missense	probably damaging	1.00
R6264:Nrxn3	UTSW	12	90332237	missense	probably damaging	1.00
R6373:Nrxn3	UTSW	12	89976469	missense	probably damaging	1.00
R6401:Nrxn3	UTSW	12	89255000	missense	possibly damaging	0.46
R6434:Nrxn3	UTSW	12	88795515	missense	probably benign	0.32
R6528:Nrxn3	UTSW	12	89513049	missense	probably damaging	1.00
R6612:Nrxn3	UTSW	12	89813332	intron	probably benign
R6632:Nrxn3	UTSW	12	89193154	missense	probably damaging	1.00
R6874:Nrxn3	UTSW	12	90332190	missense	probably damaging	0.99
R7122:Nrxn3	UTSW	12	89510607	missense	probably damaging	1.00
R7328:Nrxn3	UTSW	12	88795575	missense	probably benign
R7352:Nrxn3	UTSW	12	88850293	missense	probably benign
R7425:Nrxn3	UTSW	12	89513100	nonsense	probably null
R7444:Nrxn3	UTSW	12	89510694	missense	probably damaging	1.00
R7483:Nrxn3	UTSW	12	89510462	missense	probably damaging	1.00
R7599:Nrxn3	UTSW	12	89512062	missense	probably benign
R7738:Nrxn3	UTSW	12	88850304	missense	possibly damaging	0.68
R7765:Nrxn3	UTSW	12	89813484	missense	probably benign	0.03
R8139:Nrxn3	UTSW	12	90204664	missense	probably benign	0.01
R8192:Nrxn3	UTSW	12	90204795	missense	probably benign	0.08
R8351:Nrxn3	UTSW	12	89510643	missense	probably damaging	1.00
R8368:Nrxn3	UTSW	12	90332041	nonsense	probably null
R8397:Nrxn3	UTSW	12	90331809	missense	probably benign	0.17
R8426:Nrxn3	UTSW	12	88795327	missense	possibly damaging	0.91
R8451:Nrxn3	UTSW	12	89510643	missense	probably damaging	1.00
R8777:Nrxn3	UTSW	12	89260464	missense	probably damaging	1.00
R8777-TAIL:Nrxn3	UTSW	12	89260464	missense	probably damaging	1.00
R8844:Nrxn3	UTSW	12	89187150	missense	possibly damaging	0.88
R8870:Nrxn3	UTSW	12	90204786	missense	probably benign	0.00
R9043:Nrxn3	UTSW	12	89260482	missense	probably damaging	1.00
R9102:Nrxn3	UTSW	12	90332150	missense	probably benign	0.01
R9167:Nrxn3	UTSW	12	89187298	missense	probably damaging	1.00
R9445:Nrxn3	UTSW	12	89532967	nonsense	probably null
R9447:Nrxn3	UTSW	12	89254908	missense	probably benign	0.35
X0019:Nrxn3	UTSW	12	90199221	missense	probably damaging	1.00
Z1176:Nrxn3	UTSW	12	89187055	nonsense	probably null
Z1176:Nrxn3	UTSW	12	89517909	missense	possibly damaging	0.45
Z1177:Nrxn3	UTSW	12	88795688	missense	probably benign	0.00
Z1177:Nrxn3	UTSW	12	89260312	missense	probably damaging	1.00
Z1177:Nrxn3	UTSW	12	90331845	missense	probably benign	0.05
Z1177:Nrxn3	UTSW	12	90332114	missense	probably benign	0.00

Posted On

2013-10-07