Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Map2'

350927

Institutional Source

Beutler Lab

Gene Symbol

Map2

Ensembl Gene

ENSMUSG00000015222

Gene Name

microtubule-associated protein 2

Synonyms

repro4, MAP-2, Mtap2, G1-397-34

MMRRC Submission

041824-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.732) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

66175273-66442583 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66425469 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 287 (N287D)

Ref Sequence

ENSEMBL: ENSMUSP00000134651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024639] [ENSMUST00000077355] [ENSMUST00000114012] [ENSMUST00000114013] [ENSMUST00000114015] [ENSMUST00000114017] [ENSMUST00000114018] [ENSMUST00000172886] [ENSMUST00000173778] [ENSMUST00000173800]

AlphaFold

P20357

Predicted Effect

probably damaging
Transcript: ENSMUST00000024639
AA Change: N312D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000024639
Gene: ENSMUSG00000015222
AA Change: N312D

Domain	Start	End	E-Value	Type
low complexity region	120	141	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
low complexity region	229	251	N/A	INTRINSIC
Pfam:Tubulin-binding	300	331	2.1e-18	PFAM
Pfam:Tubulin-binding	332	362	9.1e-20	PFAM
Pfam:Tubulin-binding	363	394	1.7e-17	PFAM
low complexity region	422	435	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000077355
AA Change: N312D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000076577
Gene: ENSMUSG00000015222
AA Change: N312D

Domain	Start	End	E-Value	Type
low complexity region	120	141	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
low complexity region	229	251	N/A	INTRINSIC
Pfam:Tubulin-binding	300	331	2.1e-18	PFAM
Pfam:Tubulin-binding	332	362	9.1e-20	PFAM
Pfam:Tubulin-binding	363	394	1.7e-17	PFAM
low complexity region	422	435	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114012
AA Change: N311D

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109645
Gene: ENSMUSG00000015222
AA Change: N311D

Domain	Start	End	E-Value	Type
low complexity region	133	140	N/A	INTRINSIC
low complexity region	181	195	N/A	INTRINSIC
low complexity region	205	221	N/A	INTRINSIC
low complexity region	228	250	N/A	INTRINSIC
Pfam:Tubulin-binding	299	330	2.1e-18	PFAM
Pfam:Tubulin-binding	331	361	9.1e-20	PFAM
Pfam:Tubulin-binding	362	393	1.7e-17	PFAM
low complexity region	421	434	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114013
AA Change: N1673D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109646
Gene: ENSMUSG00000015222
AA Change: N1673D

Domain	Start	End	E-Value	Type
Pfam:RII_binding_1	86	103	1.2e-5	PFAM
low complexity region	120	141	N/A	INTRINSIC
Pfam:MAP2_projctn	376	1510	N/A	PFAM
low complexity region	1543	1557	N/A	INTRINSIC
low complexity region	1567	1583	N/A	INTRINSIC
low complexity region	1590	1612	N/A	INTRINSIC
Pfam:Tubulin-binding	1662	1692	1.7e-13	PFAM
Pfam:Tubulin-binding	1693	1723	5.8e-18	PFAM
Pfam:Tubulin-binding	1724	1755	5.9e-18	PFAM
low complexity region	1783	1796	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114015
AA Change: N312D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109648
Gene: ENSMUSG00000015222
AA Change: N312D

Domain	Start	End	E-Value	Type
low complexity region	120	141	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
low complexity region	229	251	N/A	INTRINSIC
Pfam:Tubulin-binding	300	331	2.1e-18	PFAM
Pfam:Tubulin-binding	332	362	9.1e-20	PFAM
Pfam:Tubulin-binding	363	394	1.7e-17	PFAM
low complexity region	422	435	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114017
AA Change: N312D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109650
Gene: ENSMUSG00000015222
AA Change: N312D

Domain	Start	End	E-Value	Type
low complexity region	120	141	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
low complexity region	229	251	N/A	INTRINSIC
Pfam:Tubulin-binding	300	331	2.3e-18	PFAM
Pfam:Tubulin-binding	332	362	2.3e-19	PFAM
Pfam:Tubulin-binding	363	393	9.9e-20	PFAM
Pfam:Tubulin-binding	394	425	1.9e-17	PFAM
low complexity region	453	466	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114018
AA Change: N312D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000109651
Gene: ENSMUSG00000015222
AA Change: N312D

Domain	Start	End	E-Value	Type
low complexity region	120	141	N/A	INTRINSIC
low complexity region	182	196	N/A	INTRINSIC
low complexity region	206	222	N/A	INTRINSIC
low complexity region	229	251	N/A	INTRINSIC
Pfam:Tubulin-binding	300	331	2.3e-18	PFAM
Pfam:Tubulin-binding	332	362	2.3e-19	PFAM
Pfam:Tubulin-binding	363	393	9.9e-20	PFAM
Pfam:Tubulin-binding	394	425	1.9e-17	PFAM
low complexity region	453	466	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133522

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151423

Predicted Effect

probably damaging
Transcript: ENSMUST00000172886
AA Change: N242D

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000133446
Gene: ENSMUSG00000015222
AA Change: N242D

Domain	Start	End	E-Value	Type
Pfam:MAP2_projctn	1	107	3.9e-54	PFAM
low complexity region	112	126	N/A	INTRINSIC
low complexity region	136	152	N/A	INTRINSIC
low complexity region	159	181	N/A	INTRINSIC
Pfam:Tubulin-binding	230	261	1.4e-18	PFAM
Pfam:Tubulin-binding	262	292	1.4e-19	PFAM
Pfam:Tubulin-binding	293	323	6e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173778
AA Change: N287D

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

SMART Domains

Protein: ENSMUSP00000134651
Gene: ENSMUSG00000015222
AA Change: N287D

Domain	Start	End	E-Value	Type
Pfam:MAP2_projctn	1	124	4.8e-84	PFAM
low complexity region	157	171	N/A	INTRINSIC
low complexity region	181	197	N/A	INTRINSIC
low complexity region	204	226	N/A	INTRINSIC
Pfam:Tubulin-binding	275	306	1.6e-18	PFAM
Pfam:Tubulin-binding	307	337	1.6e-19	PFAM
Pfam:Tubulin-binding	338	368	7e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173800
AA Change: N185D

PolyPhen 2 Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134518
Gene: ENSMUSG00000015222
AA Change: N185D

Domain	Start	End	E-Value	Type
Pfam:MAP2_projctn	1	23	2.2e-11	PFAM
low complexity region	55	69	N/A	INTRINSIC
low complexity region	79	95	N/A	INTRINSIC
low complexity region	102	124	N/A	INTRINSIC
Pfam:Tubulin-binding	173	204	8.7e-19	PFAM
Pfam:Tubulin-binding	205	235	3.8e-20	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The products of similar genes in rat and mouse are neuron-specific cytoskeletal proteins that are enriched in dentrites, implicating a role in determining and stabilizing dentritic shape during neuron development. A number of alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit altered contextual memory. Mice homozygous for another knock-out allele display decreased body weight, altered microtubule density and organization in Purkinje cell dendrites, and reduced dendritic length inhippocampal neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659		probably benign	Het
Areg	A	G	5: 91,143,504	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551	G986D	probably benign	Het
Caml	G	T	13: 55,625,142	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869		probably null	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611	R33G	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644		probably null	Het
Gli2	A	G	1: 118,837,511	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302	Y1970*	probably null	Het
Map3k11	A	T	19: 5,697,470	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676	H647Q	probably benign	Het
Neo1	A	G	9: 58,889,041	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722	K80*	probably null	Het
Orc2	A	T	1: 58,500,309	L57*	probably null	Het
Otoa	G	A	7: 121,145,568	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836	S13*	probably null	Het
Rfng	A	G	11: 120,782,650	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797		probably null	Het
Sirpb1a	T	A	3: 15,417,037	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708	I1016F	probably damaging	Het
Tfrc	G	T	16: 32,618,657	A278S	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289		probably null	Het
Vmn1r83	T	C	7: 12,321,768	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676	Y507H	probably damaging	Het

Other mutations in Map2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01518:Map2	APN	1	66425331	missense	probably damaging	1.00
IGL02135:Map2	APN	1	66380761	nonsense	probably null
IGL02526:Map2	APN	1	66380717	missense	possibly damaging	0.94
Annas	UTSW	1	66433597	critical splice donor site	probably null
calliope	UTSW	1	66425298	missense	probably damaging	1.00
carthage	UTSW	1	66414648	missense	probably damaging	1.00
costas	UTSW	1	66412653	missense	possibly damaging	0.94
Jacobin	UTSW	1	66399419	missense	probably damaging	1.00
Nectar	UTSW	1	66415363	nonsense	probably null
ruby_throat	UTSW	1	66414884	missense	possibly damaging	0.67
Rufous	UTSW	1	66380768	missense	probably damaging	1.00
Speckled	UTSW	1	66412727	nonsense	probably null
Sunbird	UTSW	1	66415487	missense	probably benign	0.01
swift	UTSW	1	66416364	missense	probably damaging	1.00
E0370:Map2	UTSW	1	66416724	unclassified	probably benign
PIT4362001:Map2	UTSW	1	66412518	missense	probably benign	0.05
R0067:Map2	UTSW	1	66413163	missense	probably benign	0.04
R0238:Map2	UTSW	1	66416106	missense	probably damaging	1.00
R0238:Map2	UTSW	1	66416106	missense	probably damaging	1.00
R0239:Map2	UTSW	1	66416106	missense	probably damaging	1.00
R0239:Map2	UTSW	1	66416106	missense	probably damaging	1.00
R0268:Map2	UTSW	1	66380722	nonsense	probably null
R0302:Map2	UTSW	1	66414828	missense	probably benign	0.15
R0305:Map2	UTSW	1	66413094	missense	probably benign	0.00
R0409:Map2	UTSW	1	66433580	missense	probably damaging	1.00
R0561:Map2	UTSW	1	66425497	missense	probably damaging	1.00
R0674:Map2	UTSW	1	66413202	missense	probably damaging	1.00
R0738:Map2	UTSW	1	66425189	splice site	probably benign
R0893:Map2	UTSW	1	66380768	missense	probably damaging	1.00
R1305:Map2	UTSW	1	66425395	missense	probably damaging	1.00
R1534:Map2	UTSW	1	66413180	missense	probably benign	0.33
R1632:Map2	UTSW	1	66415086	missense	possibly damaging	0.60
R1682:Map2	UTSW	1	66415622	splice site	probably null
R1774:Map2	UTSW	1	66414074	missense	probably damaging	1.00
R2014:Map2	UTSW	1	66416136	missense	possibly damaging	0.55
R2017:Map2	UTSW	1	66412799	missense	probably damaging	1.00
R2050:Map2	UTSW	1	66414314	missense	probably damaging	0.98
R2093:Map2	UTSW	1	66399440	missense	probably damaging	1.00
R2214:Map2	UTSW	1	66420186	missense	probably damaging	0.99
R2284:Map2	UTSW	1	66414068	missense	probably damaging	1.00
R3011:Map2	UTSW	1	66414612	missense	probably damaging	1.00
R3105:Map2	UTSW	1	66433597	critical splice donor site	probably null
R3708:Map2	UTSW	1	66416555	unclassified	probably benign
R3709:Map2	UTSW	1	66415856	nonsense	probably null
R3729:Map2	UTSW	1	66412446	missense	possibly damaging	0.80
R3760:Map2	UTSW	1	66438918	missense	probably damaging	1.00
R3788:Map2	UTSW	1	66416863	missense	probably damaging	0.99
R3789:Map2	UTSW	1	66416863	missense	probably damaging	0.99
R4003:Map2	UTSW	1	66415740	missense	probably damaging	1.00
R4120:Map2	UTSW	1	66415904	missense	probably damaging	1.00
R4172:Map2	UTSW	1	66413600	missense	possibly damaging	0.89
R4198:Map2	UTSW	1	66425298	missense	probably damaging	1.00
R4200:Map2	UTSW	1	66425298	missense	probably damaging	1.00
R4205:Map2	UTSW	1	66425290	missense	probably damaging	1.00
R4700:Map2	UTSW	1	66410637	missense	probably damaging	0.96
R4974:Map2	UTSW	1	66413505	missense	probably benign	0.15
R5007:Map2	UTSW	1	66413289	missense	possibly damaging	0.86
R5039:Map2	UTSW	1	66438796	missense	probably damaging	1.00
R5237:Map2	UTSW	1	66439010	unclassified	probably benign
R5313:Map2	UTSW	1	66425379	missense	probably damaging	1.00
R5455:Map2	UTSW	1	66399391	missense	probably damaging	1.00
R5490:Map2	UTSW	1	66413133	missense	probably damaging	1.00
R5517:Map2	UTSW	1	66415256	missense	probably benign	0.00
R5532:Map2	UTSW	1	66414620	missense	probably damaging	1.00
R5583:Map2	UTSW	1	66416037	missense	probably damaging	1.00
R5764:Map2	UTSW	1	66414875	missense	probably damaging	0.99
R5996:Map2	UTSW	1	66414884	missense	possibly damaging	0.67
R6058:Map2	UTSW	1	66415414	missense	probably benign	0.05
R6199:Map2	UTSW	1	66425478	missense	probably damaging	1.00
R6208:Map2	UTSW	1	66431590	missense	probably damaging	1.00
R6276:Map2	UTSW	1	66399419	missense	probably damaging	1.00
R6378:Map2	UTSW	1	66415329	missense	probably damaging	1.00
R6424:Map2	UTSW	1	66414787	missense	possibly damaging	0.67
R6743:Map2	UTSW	1	66415607	missense	probably benign	0.04
R6837:Map2	UTSW	1	66414572	missense	probably damaging	1.00
R6901:Map2	UTSW	1	66421773	missense	possibly damaging	0.94
R6984:Map2	UTSW	1	66415236	missense	possibly damaging	0.90
R6989:Map2	UTSW	1	66414906	missense	probably benign	0.00
R7001:Map2	UTSW	1	66415487	missense	probably benign	0.01
R7055:Map2	UTSW	1	66416824	missense	probably damaging	1.00
R7094:Map2	UTSW	1	66412727	nonsense	probably null
R7106:Map2	UTSW	1	66410744	missense	possibly damaging	0.92
R7182:Map2	UTSW	1	66412653	missense	possibly damaging	0.94
R7235:Map2	UTSW	1	66414648	missense	probably damaging	1.00
R7424:Map2	UTSW	1	66414824	missense	possibly damaging	0.69
R7473:Map2	UTSW	1	66415458	missense	probably damaging	1.00
R7642:Map2	UTSW	1	66413307	missense	probably benign	0.01
R7660:Map2	UTSW	1	66414377	missense	probably damaging	1.00
R7673:Map2	UTSW	1	66413774	missense	probably benign	0.03
R7768:Map2	UTSW	1	66414483	missense	possibly damaging	0.94
R7796:Map2	UTSW	1	66416495	splice site	probably null
R7834:Map2	UTSW	1	66416488	missense	probably damaging	1.00
R7842:Map2	UTSW	1	66416411	missense	probably benign
R7955:Map2	UTSW	1	66413716	missense	probably damaging	1.00
R8056:Map2	UTSW	1	66415620	missense	probably damaging	0.99
R8118:Map2	UTSW	1	66425391	missense	probably damaging	1.00
R8135:Map2	UTSW	1	66413669	missense	probably damaging	1.00
R8152:Map2	UTSW	1	66414743	missense	probably benign	0.00
R8223:Map2	UTSW	1	66425490	missense	probably damaging	1.00
R8329:Map2	UTSW	1	66415113	missense	probably benign	0.01
R8344:Map2	UTSW	1	66421713	missense	probably damaging	1.00
R8475:Map2	UTSW	1	66414005	missense	probably damaging	1.00
R8548:Map2	UTSW	1	66413340	missense	probably damaging	1.00
R8680:Map2	UTSW	1	66421713	missense	probably damaging	1.00
R8713:Map2	UTSW	1	66414622	missense	probably damaging	1.00
R8745:Map2	UTSW	1	66413397	missense	probably benign	0.00
R8786:Map2	UTSW	1	66433596	critical splice donor site	probably benign
R8790:Map2	UTSW	1	66438838	missense	probably damaging	1.00
R8874:Map2	UTSW	1	66416364	missense	probably damaging	1.00
R8887:Map2	UTSW	1	66415599	missense	possibly damaging	0.48
R8948:Map2	UTSW	1	66380525	missense	probably damaging	1.00
R8950:Map2	UTSW	1	66380525	missense	probably damaging	1.00
R8998:Map2	UTSW	1	66413314	missense	possibly damaging	0.91
R8999:Map2	UTSW	1	66413314	missense	possibly damaging	0.91
R9072:Map2	UTSW	1	66414153	missense	probably damaging	1.00
R9088:Map2	UTSW	1	66414614	missense	probably damaging	1.00
R9089:Map2	UTSW	1	66412939	missense	probably benign	0.09
R9106:Map2	UTSW	1	66415363	nonsense	probably null
R9112:Map2	UTSW	1	66433564	nonsense	probably null
R9120:Map2	UTSW	1	66414059	missense	probably damaging	1.00
R9161:Map2	UTSW	1	66438344	missense	possibly damaging	0.65
R9464:Map2	UTSW	1	66415338	missense	probably damaging	1.00
R9589:Map2	UTSW	1	66410594	missense	probably benign
V8831:Map2	UTSW	1	66415845	missense	probably damaging	1.00
Z1177:Map2	UTSW	1	66380680	missense	probably benign	0.01
Z1177:Map2	UTSW	1	66438361	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TGGATCAACTGCAATCACCC -3'
(R):5'- GGTGACCCATGACCCTGTAAAC -3'

Sequencing Primer
(F):5'- AGCTACTCTTCACGTACCCCAG -3'
(R):5'- CCATGACCCTGTAAACATCTCTG -3'

Posted On

2015-10-08