Mutagenetix > Incidental Mutation

Incidental Mutation 'R8419:Lama2'

653099

Institutional Source

Beutler Lab

Gene Symbol

Lama2

Ensembl Gene

ENSMUSG00000019899

Gene Name

laminin, alpha 2

Synonyms

merosin, mer

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

R8419 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26980036-27619758 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27422563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 179 (Y179F)

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

probably benign
Transcript: ENSMUST00000092639
AA Change: Y179F

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000090304
Gene: ENSMUSG00000019899
AA Change: Y179F

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

probably benign
Transcript: ENSMUST00000189575
AA Change: Y179F

PolyPhen 2 Score 0.264 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000140716
Gene: ENSMUSG00000019899
AA Change: Y179F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	G	T	7: 28,143,921	G745C	probably damaging	Het
9930111J21Rik2	A	T	11: 49,019,485	I707N	probably damaging	Het
Abca14	A	G	7: 120,216,266	I246V	probably benign	Het
Adam19	G	A	11: 46,125,023	A337T	possibly damaging	Het
Ankrd40	G	T	11: 94,334,836	G231V	probably damaging	Het
Arhgap5	G	A	12: 52,518,789	V848I	probably damaging	Het
Bmpr2	G	A	1: 59,867,356	R536H	probably damaging	Het
Casz1	T	A	4: 148,948,583	S1310T	probably benign	Het
Chil1	A	T	1: 134,189,542	D367V	probably damaging	Het
Cltc	A	G	11: 86,707,566	V990A	probably benign	Het
Col6a3	A	T	1: 90,802,213	S1790R	probably damaging	Het
Comt	C	T	16: 18,411,887	W24*	probably null	Het
Cyp2c70	T	C	19: 40,160,580	E374G	possibly damaging	Het
Dach1	T	C	14: 98,168,640	T224A	probably damaging	Het
Dapk1	G	A	13: 60,740,097	E656K	probably benign	Het
Dicer1	A	G	12: 104,702,677	S1249P	probably benign	Het
Dpp8	A	C	9: 65,080,755	I861L	probably benign	Het
Enam	C	T	5: 88,503,350	S906L	possibly damaging	Het
Eral1	A	T	11: 78,074,080	I429N	possibly damaging	Het
Fbxo10	C	A	4: 45,041,809	G807C	possibly damaging	Het
Fsip2	G	C	2: 82,978,619	E1761Q	probably damaging	Het
Ggnbp2	C	T	11: 84,837,989		probably null	Het
Gm10696	T	C	3: 94,175,614	I297V	probably benign	Het
Gm13088	A	G	4: 143,656,427	I74T	probably damaging	Het
Gm4353	G	A	7: 116,083,549	P266S	probably benign	Het
Gpr84	T	C	15: 103,309,536	N38S	probably damaging	Het
Guca1a	A	T	17: 47,395,555	I115N	probably damaging	Het
Hic1	C	T	11: 75,166,270	V598M	possibly damaging	Het
Itga1	A	T	13: 115,007,068	I309N	probably damaging	Het
Itga11	T	C	9: 62,755,178	S478P	possibly damaging	Het
Kctd8	T	C	5: 69,340,370	D311G	probably damaging	Het
Klhl32	T	C	4: 24,682,203	E127G	possibly damaging	Het
Lamb2	G	T	9: 108,488,364	R1382L	probably benign	Het
Mrpl1	C	G	5: 96,226,367	A167G	probably benign	Het
Muc3	A	T	5: 137,146,722	N33K		Het
Myt1	A	T	2: 181,782,606	R31*	probably null	Het
Nectin2	T	C	7: 19,717,721	T463A	probably benign	Het
Nectin2	A	T	7: 19,738,078	Y129N	probably damaging	Het
Olfr103	A	G	17: 37,336,575	I219T	possibly damaging	Het
Olfr1297	A	T	2: 111,621,504	M190K	probably benign	Het
Papolb	T	A	5: 142,528,541	N449I	possibly damaging	Het
Parn	T	C	16: 13,648,474	K236R	probably benign	Het
Prelid1	G	A	13: 55,322,885	R42Q	probably damaging	Het
Prelp	A	G	1: 133,915,282	F42L	probably benign	Het
Pygo1	C	T	9: 72,945,098	P189L	probably damaging	Het
Rimbp3	T	A	16: 17,213,022	S1437T	probably damaging	Het
Slc37a2	T	A	9: 37,237,430	D252V	probably benign	Het
Socs7	A	G	11: 97,363,339	K233R	probably benign	Het
Stat4	A	G	1: 52,098,478	D476G	possibly damaging	Het
Tesmin	A	G	19: 3,389,077	D43G	probably benign	Het
Thap1	C	A	8: 26,158,474	Y8*	probably null	Het
Tln1	A	G	4: 43,536,397	L1965P	probably damaging	Het
Tmprss11d	A	G	5: 86,309,306	S303P	probably damaging	Het
Tomm40	C	T	7: 19,701,834	V324M	probably damaging	Het
Vmn1r202	A	T	13: 22,501,815	I144K	probably damaging	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
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
R8859:Lama2	UTSW	10	27459388	missense	possibly damaging	0.58
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'- AGTGCACTGACGTTAGTTACTG -3'
(R):5'- CGTCTTTCTATTTGGAATGACTGAG -3'

Sequencing Primer
(F):5'- CACTGACGTTAGTTACTGACACATTC -3'
(R):5'- GAACTCAGAGTGATGCTTTTGTCACC -3'

Posted On

2020-10-20