Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01070:Nrap'

53227

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nrap

Ensembl Gene

ENSMUSG00000049134

Gene Name

nebulin-related anchoring protein

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01070

Quality Score

Status

Chromosome

Chromosomal Location

56320035-56390037 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56329084 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1377 (D1377G)

Ref Sequence

ENSEMBL: ENSMUSP00000128196 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040711] [ENSMUST00000073536] [ENSMUST00000095947] [ENSMUST00000166203] [ENSMUST00000167239]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040711
AA Change: D1377G

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000048364
Gene: ENSMUSG00000049134
AA Change: D1377G

Domain	Start	End	E-Value	Type
LIM	5	57	5.39e-11	SMART
NEBU	64	94	2.17e1	SMART
NEBU	168	197	1.94e-4	SMART
NEBU	202	232	1.39e-5	SMART
NEBU	239	268	2.23e-4	SMART
NEBU	308	337	2.83e-6	SMART
NEBU	346	376	3.82e-3	SMART
NEBU	382	412	1.18e-3	SMART
NEBU	450	480	8.97e-9	SMART
NEBU	485	515	1.73e-10	SMART
NEBU	521	551	8.12e-7	SMART
NEBU	555	585	1.73e-1	SMART
NEBU	590	620	2.33e-7	SMART
NEBU	621	651	1.49e-5	SMART
NEBU	655	686	5.12e-4	SMART
NEBU	689	719	8.12e-7	SMART
NEBU	724	754	2.64e-6	SMART
NEBU	760	790	3.48e-6	SMART
NEBU	798	828	2.35e-3	SMART
NEBU	833	863	6.11e-2	SMART
NEBU	864	894	1.69e-4	SMART
NEBU	899	929	3.88e-4	SMART
NEBU	932	962	4e-6	SMART
NEBU	967	997	4.22e-5	SMART
NEBU	1003	1033	2.64e-6	SMART
NEBU	1041	1071	3.68e-5	SMART
NEBU	1076	1106	4.16e-4	SMART
NEBU	1107	1137	1.1e-3	SMART
NEBU	1142	1172	1.68e1	SMART
NEBU	1175	1205	4.59e-6	SMART
NEBU	1210	1240	4.06e-7	SMART
NEBU	1246	1276	1.99e-1	SMART
NEBU	1284	1314	1.85e-1	SMART
NEBU	1319	1349	1.39e-5	SMART
NEBU	1350	1380	4.03e-2	SMART
NEBU	1385	1415	1.76e-2	SMART
NEBU	1418	1448	2.09e0	SMART
NEBU	1453	1483	6.4e-5	SMART
NEBU	1489	1519	8.63e-1	SMART
NEBU	1527	1557	1.33e-2	SMART
NEBU	1562	1592	1.84e-5	SMART
NEBU	1593	1623	7.24e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000073536
AA Change: D1412G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000073228
Gene: ENSMUSG00000049134
AA Change: D1412G

Domain	Start	End	E-Value	Type
LIM	5	57	5.39e-11	SMART
NEBU	64	94	2.17e1	SMART
NEBU	168	197	1.94e-4	SMART
NEBU	202	232	1.39e-5	SMART
NEBU	239	268	2.23e-4	SMART
NEBU	308	337	2.83e-6	SMART
NEBU	346	376	7.24e-4	SMART
NEBU	381	411	3.46e-1	SMART
NEBU	417	447	1.18e-3	SMART
NEBU	485	515	8.97e-9	SMART
NEBU	520	550	1.73e-10	SMART
NEBU	556	586	8.12e-7	SMART
NEBU	590	620	1.73e-1	SMART
NEBU	625	655	2.33e-7	SMART
NEBU	656	686	1.49e-5	SMART
NEBU	690	721	5.12e-4	SMART
NEBU	724	754	8.12e-7	SMART
NEBU	759	789	2.64e-6	SMART
NEBU	795	825	3.48e-6	SMART
NEBU	833	863	2.35e-3	SMART
NEBU	868	898	6.11e-2	SMART
NEBU	899	929	1.69e-4	SMART
NEBU	934	964	3.88e-4	SMART
NEBU	967	997	4e-6	SMART
NEBU	1002	1032	4.22e-5	SMART
NEBU	1038	1068	2.64e-6	SMART
NEBU	1076	1106	3.68e-5	SMART
NEBU	1111	1141	4.16e-4	SMART
NEBU	1142	1172	1.1e-3	SMART
NEBU	1177	1207	1.68e1	SMART
NEBU	1210	1240	4.59e-6	SMART
NEBU	1245	1275	4.06e-7	SMART
NEBU	1281	1311	1.99e-1	SMART
NEBU	1319	1349	1.85e-1	SMART
NEBU	1354	1384	1.39e-5	SMART
NEBU	1385	1415	4.03e-2	SMART
NEBU	1420	1450	1.76e-2	SMART
NEBU	1453	1483	2.09e0	SMART
NEBU	1488	1518	6.4e-5	SMART
NEBU	1524	1554	8.63e-1	SMART
NEBU	1562	1592	1.33e-2	SMART
NEBU	1597	1627	1.84e-5	SMART
NEBU	1628	1658	7.24e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000095947
AA Change: D1295G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093640
Gene: ENSMUSG00000049134
AA Change: D1295G

Domain	Start	End	E-Value	Type
NEBU	86	115	1.2e-6	SMART
NEBU	120	150	9.1e-8	SMART
NEBU	157	186	1.4e-6	SMART
NEBU	226	255	1.8e-8	SMART
NEBU	264	294	2.5e-5	SMART
NEBU	300	330	7.8e-6	SMART
NEBU	368	398	6e-11	SMART
NEBU	403	433	1.1e-12	SMART
NEBU	439	469	5.2e-9	SMART
NEBU	473	503	1.1e-3	SMART
NEBU	508	538	1.5e-9	SMART
NEBU	539	569	1e-7	SMART
NEBU	573	604	3.3e-6	SMART
NEBU	607	637	5.4e-9	SMART
NEBU	642	672	1.7e-8	SMART
NEBU	678	708	2.3e-8	SMART
NEBU	716	746	1.5e-5	SMART
NEBU	751	781	4.1e-4	SMART
NEBU	782	812	1.1e-6	SMART
NEBU	817	847	2.6e-6	SMART
NEBU	850	880	2.6e-8	SMART
NEBU	885	915	2.7e-7	SMART
NEBU	921	951	1.7e-8	SMART
NEBU	959	989	2.4e-7	SMART
NEBU	994	1024	2.7e-6	SMART
NEBU	1025	1055	7.2e-6	SMART
NEBU	1060	1090	1.1e-1	SMART
NEBU	1093	1123	3e-8	SMART
NEBU	1128	1158	2.6e-9	SMART
NEBU	1164	1194	1.3e-3	SMART
NEBU	1202	1232	1.2e-3	SMART
NEBU	1237	1267	8.8e-8	SMART
NEBU	1268	1298	2.7e-4	SMART
NEBU	1303	1333	1.2e-4	SMART
NEBU	1336	1366	1.4e-2	SMART
NEBU	1371	1401	4.3e-7	SMART
NEBU	1407	1437	5.6e-3	SMART
NEBU	1445	1475	8.8e-5	SMART
NEBU	1480	1510	1.2e-7	SMART
NEBU	1511	1541	4.8e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000166203
AA Change: D1376G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000132582
Gene: ENSMUSG00000049134
AA Change: D1376G

Domain	Start	End	E-Value	Type
LIM	5	57	5.39e-11	SMART
NEBU	64	94	2.17e1	SMART
NEBU	168	197	1.94e-4	SMART
NEBU	202	232	1.39e-5	SMART
NEBU	239	268	2.23e-4	SMART
NEBU	308	337	2.83e-6	SMART
NEBU	346	376	7.24e-4	SMART
NEBU	381	411	3.46e-1	SMART
NEBU	417	447	1.18e-3	SMART
NEBU	485	515	8.97e-9	SMART
NEBU	520	550	1.06e-10	SMART
NEBU	554	584	1.73e-1	SMART
NEBU	589	619	2.33e-7	SMART
NEBU	620	650	1.49e-5	SMART
NEBU	654	685	5.12e-4	SMART
NEBU	688	718	8.12e-7	SMART
NEBU	723	753	2.64e-6	SMART
NEBU	759	789	3.48e-6	SMART
NEBU	797	827	2.35e-3	SMART
NEBU	832	862	6.11e-2	SMART
NEBU	863	893	1.69e-4	SMART
NEBU	898	928	3.88e-4	SMART
NEBU	931	961	4e-6	SMART
NEBU	966	996	4.22e-5	SMART
NEBU	1002	1032	2.64e-6	SMART
NEBU	1040	1070	3.68e-5	SMART
NEBU	1075	1105	4.16e-4	SMART
NEBU	1106	1136	1.1e-3	SMART
NEBU	1141	1171	1.68e1	SMART
NEBU	1174	1204	4.59e-6	SMART
NEBU	1209	1239	4.06e-7	SMART
NEBU	1245	1275	1.99e-1	SMART
NEBU	1283	1313	1.85e-1	SMART
NEBU	1318	1348	1.39e-5	SMART
NEBU	1349	1379	4.03e-2	SMART
NEBU	1384	1414	1.76e-2	SMART
NEBU	1417	1447	2.09e0	SMART
NEBU	1452	1482	6.4e-5	SMART
NEBU	1488	1518	8.63e-1	SMART
NEBU	1526	1556	1.33e-2	SMART
NEBU	1561	1591	1.84e-5	SMART
NEBU	1592	1622	7.24e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000167239
AA Change: D1377G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128196
Gene: ENSMUSG00000049134
AA Change: D1377G

Domain	Start	End	E-Value	Type
LIM	5	57	5.39e-11	SMART
NEBU	64	94	2.17e1	SMART
NEBU	168	197	1.94e-4	SMART
NEBU	202	232	1.39e-5	SMART
NEBU	239	268	2.23e-4	SMART
NEBU	308	337	2.83e-6	SMART
NEBU	346	376	3.82e-3	SMART
NEBU	382	412	1.18e-3	SMART
NEBU	450	480	8.97e-9	SMART
NEBU	485	515	1.73e-10	SMART
NEBU	521	551	8.12e-7	SMART
NEBU	555	585	1.73e-1	SMART
NEBU	590	620	2.33e-7	SMART
NEBU	621	651	1.49e-5	SMART
NEBU	655	686	5.12e-4	SMART
NEBU	689	719	8.12e-7	SMART
NEBU	724	754	2.64e-6	SMART
NEBU	760	790	3.48e-6	SMART
NEBU	798	828	2.35e-3	SMART
NEBU	833	863	6.11e-2	SMART
NEBU	864	894	1.69e-4	SMART
NEBU	899	929	3.88e-4	SMART
NEBU	932	962	4e-6	SMART
NEBU	967	997	4.22e-5	SMART
NEBU	1003	1033	2.64e-6	SMART
NEBU	1041	1071	3.68e-5	SMART
NEBU	1076	1106	4.16e-4	SMART
NEBU	1107	1137	1.1e-3	SMART
NEBU	1142	1172	1.68e1	SMART
NEBU	1175	1205	4.59e-6	SMART
NEBU	1210	1240	4.06e-7	SMART
NEBU	1246	1276	1.99e-1	SMART
NEBU	1284	1314	1.85e-1	SMART
NEBU	1319	1349	1.39e-5	SMART
NEBU	1350	1380	4.03e-2	SMART
NEBU	1385	1415	3.06e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169099

SMART Domains

Protein: ENSMUSP00000125889
Gene: ENSMUSG00000049134

Domain	Start	End	E-Value	Type
NEBU	32	61	2.83e-6	SMART
NEBU	70	100	7.24e-4	SMART
NEBU	105	135	3.46e-1	SMART
NEBU	141	171	1.18e-3	SMART
NEBU	209	239	8.97e-9	SMART
NEBU	244	274	1.73e-10	SMART
NEBU	280	310	8.12e-7	SMART
NEBU	314	344	1.73e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
Adamts5	T	C	16: 85,863,133	H757R	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Akap3	A	T	6: 126,865,879	E487V	possibly damaging	Het
Bicd2	T	C	13: 49,378,316	S271P	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cma1	A	G	14: 55,942,697	S71P	probably benign	Het
Cspp1	T	C	1: 10,088,145	Y494H	probably damaging	Het
Cyp39a1	A	G	17: 43,683,022	K191R	probably benign	Het
Efr3a	G	A	15: 65,853,078	V507I	probably benign	Het
Fam178b	C	T	1: 36,564,403	R489Q	possibly damaging	Het
Kcnj4	A	G	15: 79,484,579	L400P	probably benign	Het
Kif27	A	G	13: 58,344,093	Y411H	probably damaging	Het
Mstn	A	T	1: 53,061,997	I78L	possibly damaging	Het
Pramel5	T	G	4: 144,271,272	Y467S	probably damaging	Het
Prkg1	G	A	19: 30,569,343		probably benign	Het
Rbfox1	A	C	16: 7,306,443	S219R	possibly damaging	Het
Rfng	T	C	11: 120,783,952	N71D	probably damaging	Het
Rp1	T	C	1: 4,345,238	I1884V	probably damaging	Het
Rptn	T	A	3: 93,398,176	Y939N	possibly damaging	Het
Sart1	A	G	19: 5,383,951	V322A	probably benign	Het
Shank3	T	C	15: 89,549,416	S1455P	probably damaging	Het
Smc5	T	A	19: 23,231,601	R703W	possibly damaging	Het
Sptan1	G	A	2: 30,014,173		probably null	Het
Tecta	T	C	9: 42,395,003	D43G	probably damaging	Het
Tmem67	A	T	4: 12,054,750	M685K	probably benign	Het
Trac	A	G	14: 54,220,766	T82A	probably benign	Het
Trank1	A	G	9: 111,366,793	N1295S	probably damaging	Het
Ttc36	T	C	9: 44,801,590		probably null	Het
Utp18	A	T	11: 93,869,848	S384T	possibly damaging	Het
Vmn1r64	C	A	7: 5,883,942	A201S	probably benign	Het
Vmn2r26	A	T	6: 124,061,607	I714F	probably benign	Het
Vps54	T	A	11: 21,312,268	V626D	probably damaging	Het
Wapl	T	C	14: 34,745,622		probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het

Other mutations in Nrap

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00500:Nrap	APN	19	56372909	missense	probably damaging	1.00
IGL00570:Nrap	APN	19	56338113	missense	probably benign	0.10
IGL00946:Nrap	APN	19	56340626	splice site	probably null
IGL01111:Nrap	APN	19	56345558	missense	probably damaging	1.00
IGL01138:Nrap	APN	19	56355538	missense	probably damaging	1.00
IGL01290:Nrap	APN	19	56361748	missense	probably damaging	1.00
IGL01352:Nrap	APN	19	56379836	missense	probably benign	0.00
IGL01372:Nrap	APN	19	56329102	critical splice acceptor site	probably null
IGL01395:Nrap	APN	19	56361793	missense	probably damaging	1.00
IGL01413:Nrap	APN	19	56389391	missense	probably damaging	0.99
IGL01734:Nrap	APN	19	56350309	missense	probably damaging	1.00
IGL01933:Nrap	APN	19	56388818	missense	probably damaging	1.00
IGL02156:Nrap	APN	19	56321000	missense	probably damaging	1.00
IGL02415:Nrap	APN	19	56382309	missense	probably damaging	1.00
IGL02447:Nrap	APN	19	56345519	nonsense	probably null
IGL02864:Nrap	APN	19	56350374	missense	probably damaging	1.00
IGL02993:Nrap	APN	19	56345533	missense	probably damaging	1.00
IGL03003:Nrap	APN	19	56321952	missense	probably damaging	1.00
IGL03006:Nrap	APN	19	56347164	missense	probably benign	0.02
IGL03084:Nrap	APN	19	56365454	missense	probably damaging	1.00
IGL03136:Nrap	APN	19	56342255	missense	possibly damaging	0.69
IGL03272:Nrap	APN	19	56345568	intron	probably benign
IGL03389:Nrap	APN	19	56351716	missense	probably benign	0.10
R0116:Nrap	UTSW	19	56355546	missense	probably damaging	1.00
R0374:Nrap	UTSW	19	56351622	missense	probably damaging	1.00
R0715:Nrap	UTSW	19	56357325	missense	probably damaging	0.98
R0828:Nrap	UTSW	19	56345558	missense	probably damaging	1.00
R0883:Nrap	UTSW	19	56345474	missense	probably damaging	1.00
R1416:Nrap	UTSW	19	56327293	missense	possibly damaging	0.60
R1459:Nrap	UTSW	19	56384130	missense	probably benign	0.00
R1616:Nrap	UTSW	19	56389823	missense	probably damaging	1.00
R1676:Nrap	UTSW	19	56335255	missense	probably damaging	1.00
R1687:Nrap	UTSW	19	56355529	missense	probably damaging	0.99
R1766:Nrap	UTSW	19	56335042	missense	probably damaging	0.99
R1792:Nrap	UTSW	19	56379158	missense	probably benign	0.00
R1817:Nrap	UTSW	19	56384055	unclassified	probably benign
R1972:Nrap	UTSW	19	56357353	missense	probably damaging	1.00
R1982:Nrap	UTSW	19	56384105	missense	probably damaging	0.99
R2258:Nrap	UTSW	19	56321962	missense	possibly damaging	0.80
R2448:Nrap	UTSW	19	56322030	missense	possibly damaging	0.90
R3034:Nrap	UTSW	19	56364005	missense	probably damaging	1.00
R3801:Nrap	UTSW	19	56321779	missense	probably damaging	1.00
R3804:Nrap	UTSW	19	56321779	missense	probably damaging	1.00
R3923:Nrap	UTSW	19	56380256	missense	probably damaging	0.99
R3964:Nrap	UTSW	19	56342144	missense	probably damaging	1.00
R3965:Nrap	UTSW	19	56342144	missense	probably damaging	1.00
R3966:Nrap	UTSW	19	56342144	missense	probably damaging	1.00
R3980:Nrap	UTSW	19	56381552	missense	probably benign	0.01
R4182:Nrap	UTSW	19	56350327	missense	probably damaging	1.00
R4499:Nrap	UTSW	19	56351481	missense	probably damaging	0.97
R4573:Nrap	UTSW	19	56342338	critical splice acceptor site	probably null
R4603:Nrap	UTSW	19	56335024	critical splice donor site	probably null
R4689:Nrap	UTSW	19	56386026	missense	probably damaging	0.97
R4749:Nrap	UTSW	19	56380237	missense	probably damaging	0.96
R4845:Nrap	UTSW	19	56351470	missense	probably benign	0.16
R4937:Nrap	UTSW	19	56347220	missense	probably damaging	1.00
R4962:Nrap	UTSW	19	56378143	missense	probably damaging	1.00
R5156:Nrap	UTSW	19	56371845	missense	possibly damaging	0.94
R5181:Nrap	UTSW	19	56345528	missense	possibly damaging	0.85
R5202:Nrap	UTSW	19	56335151	missense	probably damaging	1.00
R5262:Nrap	UTSW	19	56320223	missense	possibly damaging	0.95
R5301:Nrap	UTSW	19	56379109	missense	probably damaging	1.00
R5380:Nrap	UTSW	19	56381603	missense	probably damaging	1.00
R5576:Nrap	UTSW	19	56321982	missense	probably damaging	0.99
R5631:Nrap	UTSW	19	56354121	missense	probably benign	0.19
R5754:Nrap	UTSW	19	56389484	missense	possibly damaging	0.55
R5799:Nrap	UTSW	19	56342169	nonsense	probably null
R5899:Nrap	UTSW	19	56340574	missense	possibly damaging	0.80
R5910:Nrap	UTSW	19	56342311	missense	probably benign	0.00
R5994:Nrap	UTSW	19	56351599	nonsense	probably null
R6124:Nrap	UTSW	19	56386026	missense	probably damaging	0.97
R6149:Nrap	UTSW	19	56389453	missense	possibly damaging	0.79
R6182:Nrap	UTSW	19	56361698	missense	probably benign
R6245:Nrap	UTSW	19	56354221	missense	probably damaging	1.00
R6245:Nrap	UTSW	19	56379875	missense	possibly damaging	0.80
R6270:Nrap	UTSW	19	56320198	missense	probably benign	0.00
R6274:Nrap	UTSW	19	56361721	missense	probably benign	0.21
R6340:Nrap	UTSW	19	56347184	missense	probably damaging	1.00
R6547:Nrap	UTSW	19	56351566	missense	probably benign	0.00
R6734:Nrap	UTSW	19	56345509	missense	probably damaging	0.99
R6770:Nrap	UTSW	19	56382537	intron	probably null
R6812:Nrap	UTSW	19	56351676	missense	probably damaging	1.00
R6843:Nrap	UTSW	19	56380219	missense	probably damaging	1.00
R7207:Nrap	UTSW	19	56345521	missense	probably damaging	1.00
R7214:Nrap	UTSW	19	56378135	missense	probably benign	0.09
R7313:Nrap	UTSW	19	56342268	missense	probably damaging	0.97
R7515:Nrap	UTSW	19	56366427	missense	possibly damaging	0.94
R7662:Nrap	UTSW	19	56320283	missense	probably benign	0.00
R7819:Nrap	UTSW	19	56335288	missense	probably benign
R7836:Nrap	UTSW	19	56350297	missense	probably benign	0.00
R7895:Nrap	UTSW	19	56354152	missense	probably benign	0.00
R7919:Nrap	UTSW	19	56350297	missense	probably benign	0.00
R7978:Nrap	UTSW	19	56354152	missense	probably benign	0.00
R8041:Nrap	UTSW	19	56364336	nonsense	probably null
R8046:Nrap	UTSW	19	56320251	missense	possibly damaging	0.46
R8066:Nrap	UTSW	19	56354130	missense	possibly damaging	0.94
R8188:Nrap	UTSW	19	56336578	nonsense	probably null
X0028:Nrap	UTSW	19	56335220	nonsense	probably null
Z1176:Nrap	UTSW	19	56345517	frame shift	probably null
Z1177:Nrap	UTSW	19	56338092	missense	probably damaging	1.00
Z1177:Nrap	UTSW	19	56344764	missense	probably benign	0.01

Posted On

2013-06-21