Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:Lama2'

675545

Institutional Source

Beutler Lab

Gene Symbol

Lama2

Ensembl Gene

ENSMUSG00000019899

Gene Name

laminin, alpha 2

Synonyms

merosin, mer

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.230) question?

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26980036-27619758 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27459388 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 97 (N97I)

Ref Sequence

ENSEMBL: ENSMUSP00000090304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092639] [ENSMUST00000189575]

AlphaFold

no structure available at present

PDB Structure

LAMININ ALPHA 2 CHAIN LG4-5 DOMAIN PAIR [X-RAY DIFFRACTION]
LAMININ ALPHA 2 CHAIN LG4-5 DOMAIN PAIR, CA1 SITE MUTANT [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE FIFTH LAMININ G-LIKE MODULE OF THE MOUSE LAMININ ALPHA2 CHAIN [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE LG1-3 REGION OF THE LAMININ ALPHA2 CHAIN [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092639
AA Change: N97I

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090304
Gene: ENSMUSG00000019899
AA Change: N97I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LamNT	29	281	5.35e-129	SMART
EGF_Lam	283	337	2.11e-4	SMART
EGF_Lam	340	407	1.59e-8	SMART
EGF_Lam	410	462	5.44e-7	SMART
EGF_Lam	465	511	9.05e-4	SMART
LamB	574	706	2.26e-44	SMART
Pfam:Laminin_EGF	715	745	2.8e-4	PFAM
EGF_Lam	753	800	4.03e-10	SMART
EGF_Lam	803	858	3.01e-9	SMART
EGF_Lam	861	911	1.35e-11	SMART
EGF_Lam	914	960	7.23e-12	SMART
EGF_Lam	963	1007	5.87e-12	SMART
EGF_Lam	1010	1053	1.28e-12	SMART
EGF_Lam	1056	1099	2.37e-7	SMART
EGF_Lam	1102	1159	3.22e-9	SMART
LamB	1225	1360	1.95e-57	SMART
EGF_like	1364	1413	8.13e-1	SMART
EGF_Lam	1416	1462	5.48e-12	SMART
EGF_Lam	1465	1520	1.27e-7	SMART
EGF_Lam	1523	1567	2.4e-8	SMART
Pfam:Laminin_I	1584	1849	2e-92	PFAM
Blast:MA	1881	2113	1e-112	BLAST
LamG	2162	2307	1.28e-25	SMART
LamG	2356	2500	2.2e-33	SMART
LamG	2542	2688	3.31e-28	SMART
low complexity region	2725	2741	N/A	INTRINSIC
LamG	2781	2914	2.25e-39	SMART
LamG	2956	3092	1.53e-32	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189575
AA Change: N97I

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000140716
Gene: ENSMUSG00000019899
AA Change: N97I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LamNT	29	281	2.5e-131	SMART
EGF_Lam	283	337	1e-6	SMART
EGF_Lam	340	407	7.7e-11	SMART
EGF_Lam	410	462	2.6e-9	SMART
EGF_Lam	465	511	4.5e-6	SMART
LamB	574	706	1.4e-46	SMART
Pfam:Laminin_EGF	715	745	1.7e-2	PFAM
EGF_Lam	753	800	1.9e-12	SMART
EGF_Lam	803	858	1.4e-11	SMART
EGF_Lam	861	911	6.7e-14	SMART
EGF_Lam	914	960	3.6e-14	SMART
EGF_Lam	963	1007	2.9e-14	SMART
EGF_Lam	1010	1053	6.1e-15	SMART
EGF_Lam	1056	1099	1.1e-9	SMART
EGF_Lam	1102	1159	1.5e-11	SMART
LamB	1225	1349	1.4e-45	SMART

Meta Mutation Damage Score

0.3874

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (95/96)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted and spontaneous mutations exhibit progressive growth retardation, ataxia, muscle atrophy and degeneration, infertility, and premature lethality. Muscle fiber degeneration is evident as early as the first week of life. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,378,397	Y3490F		Het
Abcc1	T	C	16: 14,396,361	V167A	probably benign	Het
Abcd2	G	A	15: 91,188,946	R337C	probably damaging	Het
Adcy1	A	G	11: 7,161,877	D914G	probably benign	Het
Ahnak	G	T	19: 9,007,203	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,265,184		probably null	Het
Ank	C	T	15: 27,562,748	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,667,521	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,175,923	N185K	possibly damaging	Het
Arhgef28	T	A	13: 97,945,702	D1199V	probably damaging	Het
Arnt	T	C	3: 95,490,380		probably null	Het
Atcay	C	T	10: 81,224,464	V13M	probably benign	Het
B4galt3	T	C	1: 171,271,671	S2P	unknown	Het
Bicra	A	T	7: 15,987,812	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,998,678	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,676,319	S909C		Het
Ccdc7a	G	A	8: 129,061,632	T72M	probably benign	Het
Cct2	A	T	10: 117,060,834	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,356,395	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,012,294	V895E	probably benign	Het
Cep170b	T	C	12: 112,736,447	V448A	probably benign	Het
Chil3	G	A	3: 106,164,124	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,368,444	C24S	probably benign	Het
Cnga3	A	G	1: 37,260,771	K191E	possibly damaging	Het
Col12a1	A	T	9: 79,680,399	Y1153*	probably null	Het
Coq4	C	A	2: 29,795,479	H168Q	probably damaging	Het
Cyr61	T	C	3: 145,648,625	D177G	probably benign	Het
Dnajc14	G	A	10: 128,806,619	V137I	probably benign	Het
Efr3a	T	C	15: 65,854,765	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,284,580	E677D	probably benign	Het
Esp8	G	A	17: 40,530,122	M91I	unknown	Het
Fubp1	A	T	3: 152,232,032		probably benign	Het
Gldc	G	T	19: 30,139,379	A391D	probably damaging	Het
Gm17728	A	G	17: 9,422,195	T46A	probably benign	Het
Gm5798	A	G	14: 41,350,646	K112E	probably damaging	Het
Gm884	A	C	11: 103,615,544	I1866S	unknown	Het
Gpnmb	A	G	6: 49,052,030		probably benign	Het
Grwd1	T	C	7: 45,825,874	T415A	probably benign	Het
Gsdma3	C	G	11: 98,631,260	A172G	possibly damaging	Het
Hltf	C	T	3: 20,065,402	Q204*	probably null	Het
Igf1r	T	G	7: 68,183,463	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,357,115	M344K	probably damaging	Het
Jak3	C	T	8: 71,678,516	A60V	probably benign	Het
Kif13b	A	G	14: 64,742,433	T511A	probably benign	Het
Limd2	T	A	11: 106,158,750	D104V	probably damaging	Het
Loxl3	T	A	6: 83,037,545	C145S	probably damaging	Het
Lrrc73	A	G	17: 46,254,529	N62S	probably benign	Het
Lrrtm4	A	G	6: 80,021,887	D94G	probably damaging	Het
Lsm3	C	A	6: 91,522,270	F86L	probably damaging	Het
Map10	T	C	8: 125,670,552	V228A	probably benign	Het
Mcidas	A	C	13: 112,994,130	S54R	possibly damaging	Het
Me3	T	C	7: 89,806,668	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,230,847	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355		probably benign	Het
Mtmr9	G	A	14: 63,543,777		probably benign	Het
Myo1b	G	T	1: 51,797,039	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,406,468	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,306,346	G752R	probably damaging	Het
Nufip2	A	G	11: 77,693,243	Y661C	probably benign	Het
Olfr1490	T	A	19: 13,654,882	V151E	probably damaging	Het
Olfr354	C	T	2: 36,907,504	A186V	possibly damaging	Het
Olfr574	A	T	7: 102,949,166	I234F	probably damaging	Het
Olfr828	T	C	9: 18,815,696	I199M	possibly damaging	Het
Olfr972	G	A	9: 39,873,598	G108S	probably benign	Het
Oxct2a	A	G	4: 123,322,529	L353S	probably benign	Het
Parvg	A	G	15: 84,337,800	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,753,296	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Pgghg	G	A	7: 140,945,454		probably null	Het
Phrf1	G	T	7: 141,256,603	G263W	unknown	Het
Ppfia1	A	C	7: 144,479,025		probably null	Het
Ppp1r32	T	A	19: 10,482,235	Y36F	probably damaging	Het
Prss37	T	A	6: 40,514,963	I228F	probably damaging	Het
Ptpro	A	T	6: 137,426,784	K921*	probably null	Het
Rictor	T	G	15: 6,783,586	L940R	probably damaging	Het
Rp1	A	G	1: 4,349,960	S310P	probably benign	Het
Ryr3	A	G	2: 112,653,219	V4091A	probably damaging	Het
Sirt5	T	A	13: 43,370,851	M33K	possibly damaging	Het
Slc25a30	T	A	14: 75,771,477	Y90F	probably benign	Het
St5	T	A	7: 109,524,656	K1132M	probably damaging	Het
Stk11	G	A	10: 80,128,435	D388N	probably benign	Het
Tgm1	C	A	14: 55,712,229	R126L	probably benign	Het
Tmem110	T	A	14: 30,866,672	Y119N	probably damaging	Het
Tmem129	G	T	5: 33,654,493	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,844,518		probably null	Het
Tor1aip1	A	G	1: 156,031,444	C195R	probably benign	Het
Tpr	A	G	1: 150,408,846	E428G	possibly damaging	Het
Trps1	T	A	15: 50,822,373	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,415,109	S6T	probably benign	Het
Vangl1	C	A	3: 102,158,442	R459L		Het
Vmn1r43	T	C	6: 89,869,955	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,574,298	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,629,775	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,418,806	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,455,713	Y79F	probably benign	Het
Vnn1	T	C	10: 23,904,586	S491P	probably benign	Het
Zbbx	A	G	3: 75,061,434	F572L	unknown	Het
Zc3h4	A	T	7: 16,435,014	Q1091L	unknown	Het
Zfp503	C	T	14: 21,987,218	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,442,528	T346A	probably benign	Het

Other mutations in Lama2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Lama2	APN	10	27188265	missense	probably benign	0.01
IGL00467:Lama2	APN	10	27467197	splice site	probably benign
IGL00470:Lama2	APN	10	27243742	missense	probably benign	0.22
IGL00517:Lama2	APN	10	27197330	missense	probably benign	0.01
IGL00541:Lama2	APN	10	27188306	missense	probably benign	0.14
IGL00931:Lama2	APN	10	27006776	missense	possibly damaging	0.92
IGL00951:Lama2	APN	10	27030285	missense	probably benign	0.03
IGL00988:Lama2	APN	10	27369015	nonsense	probably null
IGL01098:Lama2	APN	10	27031112	missense	possibly damaging	0.66
IGL01152:Lama2	APN	10	27208429	missense	probably benign	0.00
IGL01293:Lama2	APN	10	27231636	missense	probably benign	0.38
IGL01338:Lama2	APN	10	27188272	missense	probably benign	0.13
IGL01609:Lama2	APN	10	27344421	missense	probably benign	0.03
IGL01643:Lama2	APN	10	27070372	splice site	probably benign
IGL01675:Lama2	APN	10	27188054	missense	possibly damaging	0.77
IGL01681:Lama2	APN	10	27265045	missense	probably benign	0.33
IGL01694:Lama2	APN	10	27006742	missense	possibly damaging	0.75
IGL01705:Lama2	APN	10	27189274	splice site	probably benign
IGL01885:Lama2	APN	10	27105139	nonsense	probably null
IGL01935:Lama2	APN	10	27422604	missense	probably damaging	0.98
IGL01994:Lama2	APN	10	27467203	critical splice donor site	probably null
IGL02041:Lama2	APN	10	26984326	missense	probably damaging	1.00
IGL02067:Lama2	APN	10	27176796	missense	probably benign	0.02
IGL02097:Lama2	APN	10	27138960	missense	probably benign	0.09
IGL02179:Lama2	APN	10	27070364	missense	probably benign	0.01
IGL02268:Lama2	APN	10	27001116	splice site	probably benign
IGL02302:Lama2	APN	10	27212043	missense	probably benign	0.06
IGL02363:Lama2	APN	10	27366066	missense	probably damaging	1.00
IGL02378:Lama2	APN	10	27043656	missense	probably damaging	0.99
IGL02642:Lama2	APN	10	27467273	missense	probably damaging	1.00
IGL02676:Lama2	APN	10	27118493	missense	probably benign	0.00
IGL02695:Lama2	APN	10	27000775	missense	probably benign
IGL02735:Lama2	APN	10	27104128	missense	probably damaging	1.00
IGL02794:Lama2	APN	10	27041231	missense	possibly damaging	0.73
IGL02823:Lama2	APN	10	27001145	missense	probably damaging	1.00
IGL02869:Lama2	APN	10	27015538	missense	probably damaging	0.99
IGL02942:Lama2	APN	10	27041220	missense	probably damaging	1.00
IGL03201:Lama2	APN	10	27344570	nonsense	probably null
IGL03268:Lama2	APN	10	27422653	missense	probably damaging	1.00
IGL03288:Lama2	APN	10	27369051	missense	probably damaging	1.00
IGL03380:Lama2	APN	10	27050265	missense	probably damaging	1.00
IGL03407:Lama2	APN	10	27347021	missense	probably damaging	1.00
cowboy	UTSW	10	27043643	frame shift	probably null
petri	UTSW	10	26993398	splice site	probably null
PIT4362001:Lama2	UTSW	10	27369136	missense	probably damaging	1.00
PIT4382001:Lama2	UTSW	10	27204905	missense	probably damaging	1.00
PIT4431001:Lama2	UTSW	10	27101430	missense	probably damaging	1.00
R0038:Lama2	UTSW	10	26986797	missense	probably benign	0.02
R0038:Lama2	UTSW	10	26986797	missense	probably benign	0.02
R0114:Lama2	UTSW	10	26993068	nonsense	probably null
R0142:Lama2	UTSW	10	27187845	missense	probably benign
R0313:Lama2	UTSW	10	26993398	splice site	probably null
R0376:Lama2	UTSW	10	27015546	missense	possibly damaging	0.68
R0412:Lama2	UTSW	10	27190625	missense	possibly damaging	0.58
R0472:Lama2	UTSW	10	26990867	missense	probably damaging	1.00
R0607:Lama2	UTSW	10	27189131	missense	probably benign	0.34
R0648:Lama2	UTSW	10	26989376	missense	probably benign	0.00
R0667:Lama2	UTSW	10	27344410	splice site	probably null
R0760:Lama2	UTSW	10	27044433	critical splice donor site	probably null
R1240:Lama2	UTSW	10	27041124	missense	probably damaging	1.00
R1385:Lama2	UTSW	10	27224043	missense	probably benign	0.11
R1433:Lama2	UTSW	10	27187754	missense	probably damaging	1.00
R1434:Lama2	UTSW	10	27208370	missense	probably damaging	1.00
R1574:Lama2	UTSW	10	27324754	missense	possibly damaging	0.65
R1574:Lama2	UTSW	10	27324754	missense	possibly damaging	0.65
R1645:Lama2	UTSW	10	27368985	missense	probably damaging	1.00
R1702:Lama2	UTSW	10	27190529	missense	probably benign
R1703:Lama2	UTSW	10	27266671	missense	probably damaging	1.00
R1769:Lama2	UTSW	10	27208406	missense	probably damaging	1.00
R1769:Lama2	UTSW	10	27208407	missense	probably benign
R1846:Lama2	UTSW	10	27212096	missense	probably damaging	1.00
R1859:Lama2	UTSW	10	27031082	missense	possibly damaging	0.51
R1871:Lama2	UTSW	10	26984494	missense	probably damaging	1.00
R1903:Lama2	UTSW	10	27188399	missense	probably damaging	1.00
R1906:Lama2	UTSW	10	27056527	critical splice donor site	probably null
R1958:Lama2	UTSW	10	26981598	missense	probably damaging	0.97
R1959:Lama2	UTSW	10	27422618	missense	probably damaging	1.00
R1977:Lama2	UTSW	10	26990800	splice site	probably null
R2063:Lama2	UTSW	10	27164926	missense	probably damaging	1.00
R2079:Lama2	UTSW	10	27369053	missense	probably damaging	0.99
R2085:Lama2	UTSW	10	27204841	nonsense	probably null
R2125:Lama2	UTSW	10	27044453	nonsense	probably null
R2140:Lama2	UTSW	10	27054694	splice site	probably null
R2219:Lama2	UTSW	10	27043569	missense	probably damaging	0.99
R2259:Lama2	UTSW	10	27031127	missense	probably benign	0.00
R2265:Lama2	UTSW	10	26992936	missense	probably damaging	1.00
R2266:Lama2	UTSW	10	26986797	missense	probably benign	0.02
R2267:Lama2	UTSW	10	26992936	missense	probably damaging	1.00
R2268:Lama2	UTSW	10	26992936	missense	probably damaging	1.00
R2269:Lama2	UTSW	10	26992936	missense	probably damaging	1.00
R2862:Lama2	UTSW	10	27422612	nonsense	probably null
R2912:Lama2	UTSW	10	27000803	missense	probably benign
R2999:Lama2	UTSW	10	26989421	missense	probably benign	0.18
R3034:Lama2	UTSW	10	27001235	missense	probably benign	0.11
R3081:Lama2	UTSW	10	27001235	missense	probably benign	0.11
R3107:Lama2	UTSW	10	27001235	missense	probably benign	0.11
R3109:Lama2	UTSW	10	27001235	missense	probably benign	0.11
R3436:Lama2	UTSW	10	27001235	missense	probably benign	0.11
R3437:Lama2	UTSW	10	27001235	missense	probably benign	0.11
R3706:Lama2	UTSW	10	27138996	missense	probably damaging	1.00
R3780:Lama2	UTSW	10	27459339	missense	probably damaging	1.00
R3807:Lama2	UTSW	10	27190665	frame shift	probably null
R3919:Lama2	UTSW	10	27118505	missense	probably damaging	1.00
R4014:Lama2	UTSW	10	26984376	missense	probably damaging	1.00
R4131:Lama2	UTSW	10	27041174	missense	probably benign	0.00
R4190:Lama2	UTSW	10	27266664	missense	probably damaging	0.96
R4273:Lama2	UTSW	10	27347054	missense	probably damaging	1.00
R4358:Lama2	UTSW	10	26984493	missense	probably damaging	1.00
R4407:Lama2	UTSW	10	27212128	small deletion	probably benign
R4415:Lama2	UTSW	10	26989344	nonsense	probably null
R4426:Lama2	UTSW	10	27422558	missense	probably damaging	1.00
R4590:Lama2	UTSW	10	26989414	missense	probably benign	0.00
R4615:Lama2	UTSW	10	26981524	missense	probably damaging	0.99
R4736:Lama2	UTSW	10	27204929	missense	probably damaging	1.00
R4754:Lama2	UTSW	10	27118531	missense	possibly damaging	0.58
R4791:Lama2	UTSW	10	27467271	missense	probably damaging	1.00
R4834:Lama2	UTSW	10	27006749	missense	probably benign	0.30
R4856:Lama2	UTSW	10	27043643	frame shift	probably null
R4858:Lama2	UTSW	10	27043643	frame shift	probably null
R4859:Lama2	UTSW	10	27043643	frame shift	probably null
R4897:Lama2	UTSW	10	27043643	frame shift	probably null
R4898:Lama2	UTSW	10	27043643	frame shift	probably null
R4899:Lama2	UTSW	10	27043643	frame shift	probably null
R4907:Lama2	UTSW	10	27164946	missense	probably benign	0.11
R4911:Lama2	UTSW	10	27138927	missense	probably damaging	1.00
R4924:Lama2	UTSW	10	27369141	missense	probably damaging	0.98
R5023:Lama2	UTSW	10	27190504	missense	probably damaging	0.97
R5057:Lama2	UTSW	10	27164986	missense	probably damaging	1.00
R5070:Lama2	UTSW	10	27350251	critical splice donor site	probably null
R5116:Lama2	UTSW	10	27118560	missense	probably benign	0.08
R5177:Lama2	UTSW	10	27190703	missense	possibly damaging	0.94
R5198:Lama2	UTSW	10	27347003	missense	probably damaging	0.96
R5289:Lama2	UTSW	10	27212073	nonsense	probably null
R5327:Lama2	UTSW	10	27138946	missense	probably benign
R5424:Lama2	UTSW	10	26984396	missense	probably damaging	1.00
R5469:Lama2	UTSW	10	27041189	missense	possibly damaging	0.92
R5620:Lama2	UTSW	10	26990880	missense	probably damaging	0.99
R5667:Lama2	UTSW	10	27190544	missense	probably damaging	1.00
R5671:Lama2	UTSW	10	27190544	missense	probably damaging	1.00
R5815:Lama2	UTSW	10	26986851	missense	probably damaging	1.00
R5917:Lama2	UTSW	10	27190697	missense	probably damaging	1.00
R5935:Lama2	UTSW	10	27015498	missense	probably benign
R5976:Lama2	UTSW	10	27190676	missense	probably benign	0.00
R5979:Lama2	UTSW	10	27235732	missense	probably damaging	0.99
R6004:Lama2	UTSW	10	27235785	missense	probably benign	0.01
R6180:Lama2	UTSW	10	26981499	missense	probably benign	0.03
R6198:Lama2	UTSW	10	27188022	missense	probably damaging	1.00
R6257:Lama2	UTSW	10	26986899	missense	possibly damaging	0.85
R6271:Lama2	UTSW	10	27023329	missense	possibly damaging	0.67
R6322:Lama2	UTSW	10	27190547	missense	probably damaging	0.96
R6354:Lama2	UTSW	10	27212068	missense	probably damaging	1.00
R6431:Lama2	UTSW	10	27053031	missense	possibly damaging	0.50
R6499:Lama2	UTSW	10	27031158	missense	probably damaging	1.00
R6535:Lama2	UTSW	10	27104131	missense	probably damaging	1.00
R6545:Lama2	UTSW	10	27176797	missense	probably benign
R6636:Lama2	UTSW	10	27124568	missense	probably benign	0.13
R6891:Lama2	UTSW	10	27328072	nonsense	probably null
R6891:Lama2	UTSW	10	27328082	nonsense	probably null
R6902:Lama2	UTSW	10	26981629	missense	probably damaging	1.00
R6908:Lama2	UTSW	10	27031196	splice site	probably null
R7168:Lama2	UTSW	10	27366152	critical splice acceptor site	probably null
R7233:Lama2	UTSW	10	27231663	missense	probably damaging	1.00
R7272:Lama2	UTSW	10	27124556	missense	probably damaging	1.00
R7274:Lama2	UTSW	10	27119980	missense	probably damaging	0.99
R7419:Lama2	UTSW	10	27266634	missense	probably benign
R7423:Lama2	UTSW	10	27212226	missense	probably benign	0.00
R7554:Lama2	UTSW	10	27155496	missense	probably damaging	1.00
R7569:Lama2	UTSW	10	27265050	missense	probably damaging	1.00
R7574:Lama2	UTSW	10	27006730	missense	probably benign	0.03
R7584:Lama2	UTSW	10	27104261	missense	possibly damaging	0.78
R7586:Lama2	UTSW	10	27101393	missense	probably benign	0.00
R7603:Lama2	UTSW	10	27266680	missense	possibly damaging	0.55
R7691:Lama2	UTSW	10	27208393	missense	possibly damaging	0.67
R7750:Lama2	UTSW	10	26990924	missense	probably damaging	0.97
R7841:Lama2	UTSW	10	27155533	missense	probably benign	0.00
R7864:Lama2	UTSW	10	27056615	missense	probably benign	0.08
R7960:Lama2	UTSW	10	26993098	missense	probably benign	0.04
R7964:Lama2	UTSW	10	27223981	critical splice donor site	probably null
R7980:Lama2	UTSW	10	27363613	missense	probably damaging	0.98
R8013:Lama2	UTSW	10	27344498	missense	probably benign	0.00
R8028:Lama2	UTSW	10	27328149	missense	probably benign	0.13
R8097:Lama2	UTSW	10	27190664	nonsense	probably null
R8100:Lama2	UTSW	10	27041117	missense	probably benign	0.03
R8110:Lama2	UTSW	10	26990870	missense	probably damaging	1.00
R8122:Lama2	UTSW	10	27054596	missense	possibly damaging	0.87
R8264:Lama2	UTSW	10	27467222	missense	probably benign	0.07
R8315:Lama2	UTSW	10	27422659	missense	probably damaging	1.00
R8318:Lama2	UTSW	10	26984338	missense	probably damaging	1.00
R8419:Lama2	UTSW	10	27422563	missense	probably benign	0.26
R8475:Lama2	UTSW	10	27101373	missense	possibly damaging	0.69
R8735:Lama2	UTSW	10	27190534	missense	probably damaging	1.00
R8754:Lama2	UTSW	10	27001151	missense	possibly damaging	0.83
R8817:Lama2	UTSW	10	27187873	missense	probably damaging	1.00
R8851:Lama2	UTSW	10	27366123	missense	possibly damaging	0.94
R8886:Lama2	UTSW	10	27369161	splice site	probably benign
R8937:Lama2	UTSW	10	26986820	missense	probably damaging	1.00
R8993:Lama2	UTSW	10	27422714	missense	possibly damaging	0.91
R9025:Lama2	UTSW	10	26984371	missense	probably benign	0.00
R9027:Lama2	UTSW	10	27204885	missense	probably damaging	1.00
R9047:Lama2	UTSW	10	27006701	missense	possibly damaging	0.50
R9075:Lama2	UTSW	10	26981592	missense	probably damaging	1.00
R9135:Lama2	UTSW	10	27422519	missense	probably damaging	1.00
R9165:Lama2	UTSW	10	27053026	critical splice donor site	probably null
R9192:Lama2	UTSW	10	27328185	missense	possibly damaging	0.95
R9254:Lama2	UTSW	10	27422689	missense	probably damaging	0.96
R9326:Lama2	UTSW	10	27030197	missense	probably benign	0.04
R9356:Lama2	UTSW	10	27212190	missense	probably damaging	0.99
R9358:Lama2	UTSW	10	27188382	missense	possibly damaging	0.95
R9358:Lama2	UTSW	10	27616765	missense	unknown
R9376:Lama2	UTSW	10	27118624	missense	probably benign	0.11
R9381:Lama2	UTSW	10	27188027	nonsense	probably null
R9397:Lama2	UTSW	10	27105121	missense	probably benign	0.01
R9460:Lama2	UTSW	10	27422479	missense	probably damaging	1.00
R9478:Lama2	UTSW	10	27015482	missense	probably damaging	0.98
R9503:Lama2	UTSW	10	26989444	missense	possibly damaging	0.57
R9514:Lama2	UTSW	10	27224019	missense	probably benign	0.00
R9515:Lama2	UTSW	10	27001174	missense	probably benign	0.23
R9516:Lama2	UTSW	10	27224019	missense	probably benign	0.00
R9533:Lama2	UTSW	10	26986875	missense	probably damaging	1.00
R9619:Lama2	UTSW	10	27188286	missense	probably damaging	1.00
R9721:Lama2	UTSW	10	27467342	missense	possibly damaging	0.58

Predicted Primers

PCR Primer
(F):5'- CAGGACCCTTTGTCACAATATCAAG -3'
(R):5'- TGACATCATTTCCTGCATGTTGTG -3'

Sequencing Primer
(F):5'- CGATTCACCCTTCATCTAAAAATTGC -3'
(R):5'- ATTTCCTGCATGTTGTGTAGAATATG -3'

Posted On

2021-07-15