Mutagenetix > Incidental Mutation

Incidental Mutation 'R6882:Lama5'

536707

Institutional Source

Beutler Lab

Gene Symbol

Lama5

Ensembl Gene

ENSMUSG00000015647

Gene Name

laminin, alpha 5

Synonyms

MMRRC Submission

044977-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

179818166-179867652 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 179833455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1519 (P1519L)

Ref Sequence

ENSEMBL: ENSMUSP00000015791 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015791]

AlphaFold

no structure available at present

PDB Structure

LAMININ ALPHA5 CHAIN N-TERMINAL FRAGMENT [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000015791
AA Change: P1519L

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

SMART Domains

Protein: ENSMUSP00000015791
Gene: ENSMUSG00000015647
AA Change: P1519L

Domain	Start	End	E-Value	Type
signal peptide	1	40	N/A	INTRINSIC
LamNT	44	303	1.06e-132	SMART
EGF_Lam	305	361	4.35e-6	SMART
EGF_Lam	364	431	5.78e-11	SMART
EGF_Lam	434	476	1.32e-5	SMART
EGF_Lam	500	544	8.63e-10	SMART
EGF_Lam	547	590	1.16e-10	SMART
EGF_Lam	593	635	4.63e-10	SMART
EGF_Lam	638	680	6.25e-7	SMART
EGF_Lam	683	726	3.1e-11	SMART
EGF_Lam	730	779	2.99e-4	SMART
EGF_Lam	782	831	4.66e-6	SMART
EGF_Lam	834	878	3.48e-5	SMART
low complexity region	1261	1273	N/A	INTRINSIC
EGF_Lam	1443	1486	7.01e-10	SMART
EGF_like	1489	1530	3.64e-1	SMART
EGF_Lam	1533	1579	8.56e-14	SMART
EGF_Lam	1582	1630	1.86e-14	SMART
LamB	1689	1819	5.86e-61	SMART
EGF_like	1818	1862	2.74e0	SMART
EGF_Lam	1865	1912	3.32e-11	SMART
EGF_Lam	1915	1968	1.61e-9	SMART
EGF_Lam	1971	2022	6.39e-13	SMART
EGF_Lam	2025	2069	1.94e-12	SMART
EGF_Lam	2072	2116	1.35e-11	SMART
EGF_like	2103	2145	3.1e1	SMART
EGF_Lam	2119	2166	1.18e-2	SMART
Pfam:Laminin_I	2189	2453	1.7e-65	PFAM
low complexity region	2532	2548	N/A	INTRINSIC
low complexity region	2557	2569	N/A	INTRINSIC
low complexity region	2632	2641	N/A	INTRINSIC
low complexity region	2663	2676	N/A	INTRINSIC
LamG	2760	2912	3.97e-8	SMART
LamG	2966	3103	1.78e-10	SMART
LamG	3149	3274	1.11e-20	SMART
LamG	3359	3497	4.05e-23	SMART
LamG	3539	3670	3e-26	SMART

Meta Mutation Damage Score

0.4283

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.9%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the vertebrate laminin alpha chains. Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. The protein encoded by this gene is the alpha-5 subunit of of laminin-10 (laminin-511), laminin-11 (laminin-521) and laminin-15 (laminin-523). [provided by RefSeq, Jun 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit disrupted basal laminae leading to exencephaly, syndactyly, placentopathy, kidney defects, abnormal lobar septation with absence of a visceral pleural membrane, and lethality in late gestation. [provided by MGI curators]

Allele List at MGI

All alleles(49) : Targeted(5) Gene trapped(44)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr10	A	G	12: 71,003,125 (GRCm39)	E238G	probably benign	Het
Adgrf5	T	A	17: 43,761,271 (GRCm39)	C989S	probably damaging	Het
Ank2	T	G	3: 126,739,406 (GRCm39)		probably benign	Het
C2cd6	T	C	1: 59,105,318 (GRCm39)	D320G	probably damaging	Het
Cacnb2	T	A	2: 14,829,110 (GRCm39)	I15N	probably benign	Het
Cage1	T	A	13: 38,206,534 (GRCm39)	Q437L	probably damaging	Het
Capn15	G	T	17: 26,179,153 (GRCm39)		probably null	Het
Cbll1	A	G	12: 31,537,484 (GRCm39)	Y424H	probably damaging	Het
Ccdc166	T	C	15: 75,853,466 (GRCm39)	H167R	possibly damaging	Het
Ccdc7a	T	C	8: 129,523,809 (GRCm39)		probably benign	Het
Cdkl4	T	A	17: 80,851,175 (GRCm39)	T176S	probably damaging	Het
Cnot1	T	C	8: 96,447,054 (GRCm39)	E2321G	possibly damaging	Het
Col6a5	G	A	9: 105,817,469 (GRCm39)	Q281*	probably null	Het
Csmd2	A	G	4: 128,343,062 (GRCm39)	T1485A	probably benign	Het
Dmxl1	A	G	18: 49,976,851 (GRCm39)		probably null	Het
Dnah3	A	G	7: 119,570,407 (GRCm39)	I2271T	possibly damaging	Het
Elavl2	A	G	4: 91,196,952 (GRCm39)	I42T	probably damaging	Het
Epn3	C	T	11: 94,382,186 (GRCm39)	A568T	probably benign	Het
Etv3	T	C	3: 87,436,577 (GRCm39)	F111L	probably damaging	Het
Fnip1	A	G	11: 54,400,724 (GRCm39)	E1041G	probably damaging	Het
Fosl2	T	C	5: 32,310,208 (GRCm39)	V219A	possibly damaging	Het
Foxj2	T	A	6: 122,805,464 (GRCm39)		probably null	Het
Gm8947	G	A	1: 151,068,880 (GRCm39)	A238T	possibly damaging	Het
Golgb1	C	A	16: 36,734,352 (GRCm39)	Q1200K	probably benign	Het
Igkv4-55	A	G	6: 69,584,289 (GRCm39)	Y108H	probably damaging	Het
Iglc1	G	A	16: 18,880,599 (GRCm39)		probably benign	Het
Ints13	G	T	6: 146,464,939 (GRCm39)	R221S	probably null	Het
Ipo11	T	C	13: 107,037,190 (GRCm39)		probably null	Het
Kcnn2	A	T	18: 45,692,505 (GRCm39)	H27L	possibly damaging	Het
Kcns3	C	T	12: 11,142,049 (GRCm39)	V217M	probably benign	Het
Klra9	A	T	6: 130,155,985 (GRCm39)	C257S	probably damaging	Het
Lmbr1l	A	G	15: 98,805,467 (GRCm39)	F345L	probably damaging	Het
Lrrc18	A	C	14: 32,730,646 (GRCm39)	I62L	probably benign	Het
Mr1	A	G	1: 155,008,199 (GRCm39)	W259R	possibly damaging	Het
Myo15a	G	A	11: 60,414,832 (GRCm39)	R3325H	probably damaging	Het
Nid2	A	G	14: 19,839,775 (GRCm39)	D788G	probably damaging	Het
Or2y1c	A	T	11: 49,361,290 (GRCm39)	Y104F	probably benign	Het
Or5an10	C	A	19: 12,275,934 (GRCm39)	Q187H	probably damaging	Het
Or5h24	A	T	16: 58,918,990 (GRCm39)	C122S	unknown	Het
Or6d12	T	C	6: 116,493,395 (GRCm39)	V219A	probably benign	Het
Pbld1	T	C	10: 62,897,241 (GRCm39)	L11P	probably benign	Het
Pcnt	T	C	10: 76,263,662 (GRCm39)	E434G	probably benign	Het
Prg4	G	A	1: 150,329,246 (GRCm39)	T174M	probably damaging	Het
Prkdc	G	A	16: 15,601,127 (GRCm39)		probably null	Het
Prkdc	T	A	16: 15,626,020 (GRCm39)	S3349T	probably benign	Het
Prpf38a	C	A	4: 108,427,365 (GRCm39)	E199D	probably benign	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Rhbg	T	A	3: 88,152,527 (GRCm39)	H339L	probably damaging	Het
Rnf183	A	G	4: 62,346,261 (GRCm39)	I179T	probably benign	Het
Sh3bp5l	G	T	11: 58,222,525 (GRCm39)	A7S	probably benign	Het
Slc12a3	T	A	8: 95,092,546 (GRCm39)	I989N	possibly damaging	Het
Sycp3	C	T	10: 88,308,791 (GRCm39)	R246*	probably null	Het
Tmprss11b	T	A	5: 86,819,530 (GRCm39)		probably null	Het
Tmx4	T	C	2: 134,485,922 (GRCm39)	T2A	possibly damaging	Het
Tnfsf10	T	C	3: 27,380,182 (GRCm39)	L82S	possibly damaging	Het
Tnni3k	T	A	3: 154,663,357 (GRCm39)	I332F	possibly damaging	Het
Ttn	T	A	2: 76,644,539 (GRCm39)	T13072S	probably benign	Het
Vmn2r1	A	T	3: 63,997,529 (GRCm39)	Y395F	possibly damaging	Het
Zbbx	A	G	3: 74,979,019 (GRCm39)	V476A	probably benign	Het
Zfp341	T	C	2: 154,479,943 (GRCm39)	C465R	probably damaging	Het
Zfp398	A	G	6: 47,843,016 (GRCm39)	D224G	probably damaging	Het
Zfp407	G	T	18: 84,361,194 (GRCm39)		probably null	Het
Zfp52	T	C	17: 21,775,309 (GRCm39)	M1T	probably null	Het

Other mutations in Lama5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Lama5	APN	2	179,818,336 (GRCm39)	unclassified	probably benign
IGL01370:Lama5	APN	2	179,839,193 (GRCm39)	missense	possibly damaging	0.87
IGL01474:Lama5	APN	2	179,838,363 (GRCm39)	missense	probably damaging	1.00
IGL01614:Lama5	APN	2	179,822,657 (GRCm39)	missense	probably damaging	1.00
IGL01941:Lama5	APN	2	179,834,185 (GRCm39)	missense	possibly damaging	0.71
IGL01953:Lama5	APN	2	179,832,497 (GRCm39)	missense	probably damaging	0.97
IGL02093:Lama5	APN	2	179,830,380 (GRCm39)	missense	probably damaging	1.00
IGL02197:Lama5	APN	2	179,849,012 (GRCm39)	missense	possibly damaging	0.82
IGL02308:Lama5	APN	2	179,832,120 (GRCm39)	splice site	probably benign
IGL02314:Lama5	APN	2	179,836,275 (GRCm39)	splice site	probably benign
IGL02317:Lama5	APN	2	179,833,112 (GRCm39)	missense	probably damaging	1.00
IGL02354:Lama5	APN	2	179,835,677 (GRCm39)	nonsense	probably null
IGL02361:Lama5	APN	2	179,835,677 (GRCm39)	nonsense	probably null
IGL02557:Lama5	APN	2	179,832,725 (GRCm39)	nonsense	probably null
IGL03026:Lama5	APN	2	179,837,760 (GRCm39)	missense	probably benign	0.34
IGL03160:Lama5	APN	2	179,822,128 (GRCm39)	missense	probably damaging	1.00
IGL03238:Lama5	APN	2	179,830,367 (GRCm39)	missense	probably benign
IGL03390:Lama5	APN	2	179,849,011 (GRCm39)	missense	probably damaging	1.00
blancmange	UTSW	2	179,822,404 (GRCm39)	missense	probably damaging	0.98
cupcake	UTSW	2	179,827,752 (GRCm39)	missense	probably damaging	1.00
layercake	UTSW	2	179,822,511 (GRCm39)	missense	possibly damaging	0.83
poundcake	UTSW	2	179,837,401 (GRCm39)	missense	probably damaging	1.00
Salty	UTSW	2	179,823,444 (GRCm39)	missense	possibly damaging	0.84
PIT4378001:Lama5	UTSW	2	179,831,238 (GRCm39)	missense	possibly damaging	0.89
R0003:Lama5	UTSW	2	179,819,872 (GRCm39)	splice site	probably null
R0056:Lama5	UTSW	2	179,828,899 (GRCm39)	intron	probably benign
R0147:Lama5	UTSW	2	179,832,199 (GRCm39)	missense	probably benign
R0148:Lama5	UTSW	2	179,832,199 (GRCm39)	missense	probably benign
R0310:Lama5	UTSW	2	179,823,359 (GRCm39)	splice site	probably benign
R0326:Lama5	UTSW	2	179,824,219 (GRCm39)	missense	possibly damaging	0.90
R0368:Lama5	UTSW	2	179,823,023 (GRCm39)	nonsense	probably null
R0479:Lama5	UTSW	2	179,826,250 (GRCm39)	missense	probably benign	0.03
R0490:Lama5	UTSW	2	179,821,962 (GRCm39)	missense	possibly damaging	0.90
R0636:Lama5	UTSW	2	179,831,124 (GRCm39)	critical splice donor site	probably null
R0704:Lama5	UTSW	2	179,821,277 (GRCm39)	missense	possibly damaging	0.84
R0733:Lama5	UTSW	2	179,822,511 (GRCm39)	missense	possibly damaging	0.83
R1017:Lama5	UTSW	2	179,837,213 (GRCm39)	missense	probably damaging	1.00
R1078:Lama5	UTSW	2	179,821,557 (GRCm39)	unclassified	probably benign
R1294:Lama5	UTSW	2	179,832,714 (GRCm39)	missense	probably benign	0.00
R1423:Lama5	UTSW	2	179,837,434 (GRCm39)	missense	probably damaging	1.00
R1438:Lama5	UTSW	2	179,824,593 (GRCm39)	missense	probably benign	0.01
R1447:Lama5	UTSW	2	179,827,671 (GRCm39)	missense	probably damaging	0.99
R1540:Lama5	UTSW	2	179,821,944 (GRCm39)	missense	probably benign
R1601:Lama5	UTSW	2	179,839,538 (GRCm39)	missense	probably damaging	1.00
R1624:Lama5	UTSW	2	179,848,551 (GRCm39)	missense	probably benign	0.02
R1674:Lama5	UTSW	2	179,843,780 (GRCm39)	missense	probably benign	0.00
R1687:Lama5	UTSW	2	179,835,859 (GRCm39)	missense	probably benign	0.00
R1696:Lama5	UTSW	2	179,844,279 (GRCm39)	missense	probably damaging	1.00
R1701:Lama5	UTSW	2	179,863,162 (GRCm39)	missense	probably damaging	1.00
R1778:Lama5	UTSW	2	179,837,274 (GRCm39)	splice site	probably benign
R1936:Lama5	UTSW	2	179,832,714 (GRCm39)	missense	probably benign	0.00
R1939:Lama5	UTSW	2	179,832,714 (GRCm39)	missense	probably benign	0.00
R1940:Lama5	UTSW	2	179,832,714 (GRCm39)	missense	probably benign	0.00
R1953:Lama5	UTSW	2	179,832,540 (GRCm39)	missense	possibly damaging	0.94
R1966:Lama5	UTSW	2	179,830,145 (GRCm39)	missense	probably damaging	1.00
R2024:Lama5	UTSW	2	179,820,923 (GRCm39)	missense	probably benign	0.00
R2079:Lama5	UTSW	2	179,867,301 (GRCm39)	missense	possibly damaging	0.68
R2115:Lama5	UTSW	2	179,828,678 (GRCm39)	missense	probably damaging	1.00
R2173:Lama5	UTSW	2	179,838,035 (GRCm39)	missense	probably benign	0.00
R2272:Lama5	UTSW	2	179,820,396 (GRCm39)	missense	possibly damaging	0.93
R2357:Lama5	UTSW	2	179,821,890 (GRCm39)	missense	probably benign	0.01
R2860:Lama5	UTSW	2	179,829,040 (GRCm39)	missense	probably benign	0.00
R2861:Lama5	UTSW	2	179,829,040 (GRCm39)	missense	probably benign	0.00
R2939:Lama5	UTSW	2	179,840,747 (GRCm39)	missense	probably damaging	1.00
R3053:Lama5	UTSW	2	179,824,860 (GRCm39)	missense	probably damaging	0.99
R3430:Lama5	UTSW	2	179,838,110 (GRCm39)	missense	probably benign	0.00
R3752:Lama5	UTSW	2	179,829,015 (GRCm39)	missense	probably damaging	1.00
R3782:Lama5	UTSW	2	179,836,356 (GRCm39)	missense	possibly damaging	0.57
R3901:Lama5	UTSW	2	179,824,144 (GRCm39)	splice site	probably benign
R4248:Lama5	UTSW	2	179,822,220 (GRCm39)	missense	possibly damaging	0.84
R4626:Lama5	UTSW	2	179,826,253 (GRCm39)	missense	probably damaging	0.98
R4638:Lama5	UTSW	2	179,832,206 (GRCm39)	missense	possibly damaging	0.89
R4669:Lama5	UTSW	2	179,822,430 (GRCm39)	missense	probably damaging	1.00
R4673:Lama5	UTSW	2	179,841,059 (GRCm39)	missense	probably damaging	1.00
R4677:Lama5	UTSW	2	179,821,159 (GRCm39)	missense	possibly damaging	0.69
R4701:Lama5	UTSW	2	179,833,489 (GRCm39)	missense	probably damaging	1.00
R4774:Lama5	UTSW	2	179,827,734 (GRCm39)	missense	probably damaging	1.00
R4880:Lama5	UTSW	2	179,818,861 (GRCm39)	unclassified	probably benign
R4923:Lama5	UTSW	2	179,825,942 (GRCm39)	missense	probably benign	0.18
R4960:Lama5	UTSW	2	179,850,045 (GRCm39)	critical splice donor site	probably null
R4983:Lama5	UTSW	2	179,835,242 (GRCm39)	missense	probably benign	0.13
R5061:Lama5	UTSW	2	179,840,579 (GRCm39)	nonsense	probably null
R5080:Lama5	UTSW	2	179,848,993 (GRCm39)	nonsense	probably null
R5135:Lama5	UTSW	2	179,844,013 (GRCm39)	missense	possibly damaging	0.89
R5206:Lama5	UTSW	2	179,833,097 (GRCm39)	missense	probably damaging	1.00
R5296:Lama5	UTSW	2	179,835,594 (GRCm39)	missense	probably damaging	1.00
R5319:Lama5	UTSW	2	179,822,911 (GRCm39)	missense	probably damaging	1.00
R5355:Lama5	UTSW	2	179,823,444 (GRCm39)	missense	possibly damaging	0.84
R5388:Lama5	UTSW	2	179,832,539 (GRCm39)	missense	possibly damaging	0.83
R5528:Lama5	UTSW	2	179,836,356 (GRCm39)	missense	probably benign	0.21
R5536:Lama5	UTSW	2	179,831,142 (GRCm39)	missense	probably damaging	0.99
R5658:Lama5	UTSW	2	179,850,069 (GRCm39)	nonsense	probably null
R5823:Lama5	UTSW	2	179,834,285 (GRCm39)	missense	probably benign	0.04
R5885:Lama5	UTSW	2	179,843,624 (GRCm39)	missense	probably damaging	1.00
R5889:Lama5	UTSW	2	179,835,467 (GRCm39)	intron	probably benign
R5912:Lama5	UTSW	2	179,837,268 (GRCm39)	missense	probably damaging	1.00
R5955:Lama5	UTSW	2	179,839,267 (GRCm39)	missense	probably damaging	1.00
R6015:Lama5	UTSW	2	179,827,185 (GRCm39)	missense	probably benign	0.36
R6037:Lama5	UTSW	2	179,848,806 (GRCm39)	missense	probably damaging	1.00
R6037:Lama5	UTSW	2	179,848,806 (GRCm39)	missense	probably damaging	1.00
R6191:Lama5	UTSW	2	179,827,752 (GRCm39)	missense	probably damaging	1.00
R6191:Lama5	UTSW	2	179,822,404 (GRCm39)	missense	probably damaging	0.98
R6359:Lama5	UTSW	2	179,837,775 (GRCm39)	missense	probably benign	0.01
R6385:Lama5	UTSW	2	179,838,326 (GRCm39)	missense	probably damaging	1.00
R6406:Lama5	UTSW	2	179,839,257 (GRCm39)	nonsense	probably null
R6552:Lama5	UTSW	2	179,822,947 (GRCm39)	missense	probably damaging	0.98
R6632:Lama5	UTSW	2	179,833,455 (GRCm39)	missense	probably damaging	1.00
R6633:Lama5	UTSW	2	179,833,455 (GRCm39)	missense	probably damaging	1.00
R6645:Lama5	UTSW	2	179,821,463 (GRCm39)	missense	probably damaging	1.00
R6731:Lama5	UTSW	2	179,830,367 (GRCm39)	missense	probably benign	0.09
R6744:Lama5	UTSW	2	179,833,455 (GRCm39)	missense	probably damaging	1.00
R6798:Lama5	UTSW	2	179,833,455 (GRCm39)	missense	probably damaging	1.00
R6799:Lama5	UTSW	2	179,833,455 (GRCm39)	missense	probably damaging	1.00
R6801:Lama5	UTSW	2	179,833,455 (GRCm39)	missense	probably damaging	1.00
R6851:Lama5	UTSW	2	179,833,455 (GRCm39)	missense	probably damaging	1.00
R6869:Lama5	UTSW	2	179,833,455 (GRCm39)	missense	probably damaging	1.00
R6881:Lama5	UTSW	2	179,833,455 (GRCm39)	missense	probably damaging	1.00
R6884:Lama5	UTSW	2	179,833,455 (GRCm39)	missense	probably damaging	1.00
R7022:Lama5	UTSW	2	179,822,524 (GRCm39)	missense	probably damaging	1.00
R7204:Lama5	UTSW	2	179,843,970 (GRCm39)	missense	probably damaging	1.00
R7207:Lama5	UTSW	2	179,848,877 (GRCm39)	missense	probably damaging	0.98
R7282:Lama5	UTSW	2	179,843,588 (GRCm39)	missense	probably damaging	1.00
R7367:Lama5	UTSW	2	179,834,751 (GRCm39)	missense	probably benign	0.01
R7410:Lama5	UTSW	2	179,844,183 (GRCm39)	critical splice donor site	probably null
R7699:Lama5	UTSW	2	179,822,654 (GRCm39)	missense	probably damaging	1.00
R7849:Lama5	UTSW	2	179,843,605 (GRCm39)	missense	probably damaging	1.00
R7909:Lama5	UTSW	2	179,834,069 (GRCm39)	missense	possibly damaging	0.95
R7948:Lama5	UTSW	2	179,843,994 (GRCm39)	missense	probably damaging	1.00
R8153:Lama5	UTSW	2	179,829,724 (GRCm39)	missense	probably benign	0.37
R8317:Lama5	UTSW	2	179,848,784 (GRCm39)	missense	probably damaging	1.00
R8351:Lama5	UTSW	2	179,837,401 (GRCm39)	missense	probably damaging	1.00
R8370:Lama5	UTSW	2	179,843,280 (GRCm39)	missense	possibly damaging	0.80
R8398:Lama5	UTSW	2	179,838,827 (GRCm39)	critical splice donor site	probably null
R8401:Lama5	UTSW	2	179,840,580 (GRCm39)	missense	probably damaging	1.00
R8404:Lama5	UTSW	2	179,837,015 (GRCm39)	missense	probably damaging	1.00
R8502:Lama5	UTSW	2	179,837,015 (GRCm39)	missense	probably damaging	1.00
R8694:Lama5	UTSW	2	179,822,677 (GRCm39)	missense	probably damaging	0.98
R8705:Lama5	UTSW	2	179,820,354 (GRCm39)	missense	probably damaging	1.00
R8732:Lama5	UTSW	2	179,828,481 (GRCm39)	missense	probably damaging	1.00
R8755:Lama5	UTSW	2	179,832,714 (GRCm39)	missense	probably benign	0.00
R8786:Lama5	UTSW	2	179,838,100 (GRCm39)	missense	probably damaging	1.00
R8926:Lama5	UTSW	2	179,835,783 (GRCm39)	missense	probably benign	0.08
R8928:Lama5	UTSW	2	179,843,832 (GRCm39)	missense	probably damaging	1.00
R8953:Lama5	UTSW	2	179,835,313 (GRCm39)	missense	probably damaging	0.99
R8958:Lama5	UTSW	2	179,835,592 (GRCm39)	missense	probably benign
R9002:Lama5	UTSW	2	179,838,311 (GRCm39)	missense	probably damaging	1.00
R9081:Lama5	UTSW	2	179,833,930 (GRCm39)	nonsense	probably null
R9165:Lama5	UTSW	2	179,821,286 (GRCm39)	missense	probably damaging	0.99
R9233:Lama5	UTSW	2	179,840,502 (GRCm39)	nonsense	probably null
R9264:Lama5	UTSW	2	179,838,271 (GRCm39)	splice site	probably benign
R9311:Lama5	UTSW	2	179,838,275 (GRCm39)	critical splice donor site	probably null
R9443:Lama5	UTSW	2	179,843,522 (GRCm39)	missense	probably benign	0.00
R9488:Lama5	UTSW	2	179,823,234 (GRCm39)	missense	possibly damaging	0.95
R9674:Lama5	UTSW	2	179,840,267 (GRCm39)	critical splice donor site	probably null
R9684:Lama5	UTSW	2	179,849,038 (GRCm39)	missense	probably damaging	1.00
R9749:Lama5	UTSW	2	179,825,433 (GRCm39)	missense	probably benign	0.00
RF020:Lama5	UTSW	2	179,837,971 (GRCm39)	missense	probably benign
X0065:Lama5	UTSW	2	179,823,524 (GRCm39)	missense	probably benign	0.26
Z1177:Lama5	UTSW	2	179,832,507 (GRCm39)	missense	possibly damaging	0.95
Z1177:Lama5	UTSW	2	179,831,212 (GRCm39)	missense	probably damaging	1.00
Z1177:Lama5	UTSW	2	179,825,423 (GRCm39)	missense	probably benign	0.03
Z1177:Lama5	UTSW	2	179,840,603 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGAAAGGCGATGCTCTC -3'
(R):5'- AGTGACACATAGGAGCCTGG -3'

Sequencing Primer
(F):5'- AAAGGCGATGCTCTCCCTGAC -3'
(R):5'- CACATAGGAGCCTGGCAGGG -3'

Posted On

2018-10-18