Mutagenetix > Incidental Mutation

Incidental Mutation 'R7512:Ly75'

582129

Institutional Source

Beutler Lab

Gene Symbol

Ly75

Ensembl Gene

ENSMUSG00000026980

Gene Name

lymphocyte antigen 75

Synonyms

DEC-205, CD205

MMRRC Submission

045585-MU

Accession Numbers

Genbank: NM_013825

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7512 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60292103-60383303 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60334563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 757 (V757D)

Ref Sequence

ENSEMBL: ENSMUSP00000028362 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028362] [ENSMUST00000112533]

AlphaFold

Q60767

Predicted Effect

probably damaging
Transcript: ENSMUST00000028362
AA Change: V757D

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

SMART Domains

Protein: ENSMUSP00000028362
Gene: ENSMUSG00000026980
AA Change: V757D

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
RICIN	33	146	2.63e-17	SMART
FN2	162	209	1.22e-23	SMART
CLECT	216	341	7.36e-32	SMART
CLECT	361	486	9.28e-29	SMART
CLECT	501	624	1.11e-17	SMART
CLECT	643	791	1.93e-26	SMART
CLECT	811	932	7.94e-2	SMART
CLECT	952	1091	5.81e-21	SMART
CLECT	1104	1222	1.04e-22	SMART
CLECT	1240	1382	3.48e-10	SMART
CLECT	1395	1513	9.59e-22	SMART
CLECT	1530	1661	7.79e-22	SMART
transmembrane domain	1670	1692	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112533
AA Change: V757D

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108152
Gene: ENSMUSG00000026980
AA Change: V757D

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
RICIN	33	146	2.63e-17	SMART
FN2	162	209	1.22e-23	SMART
CLECT	216	341	7.36e-32	SMART
CLECT	361	486	9.28e-29	SMART
CLECT	501	624	1.11e-17	SMART
CLECT	643	791	1.93e-26	SMART
CLECT	811	932	7.94e-2	SMART
CLECT	952	1091	5.81e-21	SMART
CLECT	1104	1222	1.04e-22	SMART
CLECT	1240	1382	3.48e-10	SMART
CLECT	1395	1513	9.59e-22	SMART
CLECT	1530	1661	7.79e-22	SMART
transmembrane domain	1670	1692	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display abnormalities in CD8-positive T cell morphology and cytotoxic T cell physiology. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(1) Targeted, other(1) Gene trapped(5)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	G	A	10: 82,292,635 (GRCm38)	L1514F	probably benign	Het
Abca8b	C	T	11: 109,938,449 (GRCm38)	A1395T	probably benign	Het
Ank3	A	G	10: 69,990,861 (GRCm38)	K1787E		Het
Atg2a	C	T	19: 6,260,076 (GRCm38)	A1763V	probably damaging	Het
Bdp1	T	C	13: 100,050,949 (GRCm38)	I1637V	probably benign	Het
C1ra	G	A	6: 124,517,725 (GRCm38)	E316K	probably benign	Het
Camsap3	A	G	8: 3,598,740 (GRCm38)	T20A	probably benign	Het
Ccnt2	T	A	1: 127,802,294 (GRCm38)	S303T	possibly damaging	Het
Cdh3	C	T	8: 106,539,008 (GRCm38)	Q228*	probably null	Het
Col19a1	C	T	1: 24,317,707 (GRCm38)	G632R	probably damaging	Het
Dock2	A	C	11: 34,312,542 (GRCm38)	C938G	possibly damaging	Het
Dync1i1	G	T	6: 5,969,410 (GRCm38)	V412L	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,324 (GRCm38)	C38Y	probably null	Het
Fam185a	G	A	5: 21,447,358 (GRCm38)		probably null	Het
Fam189a1	C	T	7: 65,156,170 (GRCm38)	A52T	probably benign	Het
Fcho1	A	G	8: 71,716,863 (GRCm38)	L133P	possibly damaging	Het
Galnt12	G	A	4: 47,108,406 (GRCm38)	R181H	possibly damaging	Het
Gen1	A	G	12: 11,260,976 (GRCm38)	V85A	possibly damaging	Het
Gm12185	A	T	11: 48,915,890 (GRCm38)	I158K	probably benign	Het
Gm4027	G	T	12: 87,621,981 (GRCm38)	E128*	probably null	Het
Gm5624	T	C	14: 44,561,855 (GRCm38)	R82G		Het
Grap2	A	C	15: 80,648,553 (GRCm38)	N307T	probably benign	Het
H6pd	A	G	4: 149,995,948 (GRCm38)	F147L	probably benign	Het
Haspin	A	T	11: 73,136,592 (GRCm38)	I557N	probably damaging	Het
Hectd4	A	T	5: 121,297,109 (GRCm38)	K961N	possibly damaging	Het
Helz2	A	T	2: 181,235,600 (GRCm38)		probably null	Het
Helz2	A	G	2: 181,230,854 (GRCm38)	M2495T	probably benign	Het
Impdh1	T	C	6: 29,207,169 (GRCm38)	I59V	probably benign	Het
Kcnn1	A	T	8: 70,854,649 (GRCm38)	L200Q	possibly damaging	Het
Kif5c	T	A	2: 49,700,965 (GRCm38)	H276Q	probably damaging	Het
Kntc1	T	C	5: 123,790,938 (GRCm38)	L1259P	probably damaging	Het
Krtap4-1	A	T	11: 99,628,033 (GRCm38)	C50*	probably null	Het
Lat2	T	A	5: 134,605,944 (GRCm38)	D114V	probably damaging	Het
Lrrc41	A	G	4: 116,092,994 (GRCm38)	T535A	possibly damaging	Het
Masp1	C	A	16: 23,470,124 (GRCm38)	R642L	probably damaging	Het
Morn3	A	G	5: 123,037,280 (GRCm38)		probably null	Het
Mpl	A	T	4: 118,448,892 (GRCm38)	I384N		Het
Mtmr14	C	T	6: 113,268,691 (GRCm38)	Q409*	probably null	Het
Nek1	T	A	8: 61,130,145 (GRCm38)	D1272E	probably benign	Het
Oit3	T	C	10: 59,438,894 (GRCm38)	Y28C	probably damaging	Het
Olfr1267-ps1	A	G	2: 90,085,696 (GRCm38)	I255T	possibly damaging	Het
Olfr204	T	A	16: 59,315,027 (GRCm38)	N127Y	probably damaging	Het
Olfr372	T	A	8: 72,058,523 (GRCm38)	I281N	probably damaging	Het
Pcdh15	T	C	10: 74,641,382 (GRCm38)	Y186H	possibly damaging	Het
Pcdhgb1	T	A	18: 37,682,365 (GRCm38)	D636E	probably damaging	Het
Pdgfra	A	T	5: 75,195,014 (GRCm38)	R1062*	probably null	Het
Pds5b	T	C	5: 150,788,342 (GRCm38)	F922L	probably damaging	Het
Pip5k1c	G	A	10: 81,315,119 (GRCm38)		probably null	Het
Ppp2r3a	T	C	9: 101,175,333 (GRCm38)	T226A	possibly damaging	Het
Ptprh	G	A	7: 4,571,781 (GRCm38)	T413I	possibly damaging	Het
Rora	C	A	9: 69,374,085 (GRCm38)	D382E	probably benign	Het
Sacs	T	A	14: 61,204,430 (GRCm38)	N1308K	probably benign	Het
Sgce	C	T	6: 4,707,192 (GRCm38)	D218N	possibly damaging	Het
Slc34a3	A	T	2: 25,232,241 (GRCm38)		probably null	Het
Slit1	T	C	19: 41,600,635 (GRCm38)	Y1471C	probably damaging	Het
Smarca2	G	T	19: 26,683,809 (GRCm38)	V935L	possibly damaging	Het
Smchd1	T	C	17: 71,381,369 (GRCm38)	N1298S	possibly damaging	Het
Sort1	T	A	3: 108,326,007 (GRCm38)		probably null	Het
Spata13	T	C	14: 60,751,777 (GRCm38)	L964P	probably damaging	Het
Trav7-6	C	A	14: 53,717,095 (GRCm38)	D47E	probably benign	Het
Ubap2l	A	G	3: 90,010,496 (GRCm38)	F864L	unknown	Het
Vmn2r102	C	T	17: 19,694,101 (GRCm38)	P643S	probably damaging	Het
Zfp112	T	A	7: 24,125,179 (GRCm38)	C195S	possibly damaging	Het

Other mutations in Ly75

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00561:Ly75	APN	2	60,376,077 (GRCm38)	missense	probably damaging	1.00
IGL01072:Ly75	APN	2	60,354,496 (GRCm38)	missense	probably damaging	1.00
IGL01409:Ly75	APN	2	60,321,692 (GRCm38)	splice site	probably null
IGL01432:Ly75	APN	2	60,376,007 (GRCm38)	missense	probably damaging	1.00
IGL01626:Ly75	APN	2	60,301,015 (GRCm38)	missense	probably benign	0.13
IGL01690:Ly75	APN	2	60,338,311 (GRCm38)	missense	probably damaging	1.00
IGL01862:Ly75	APN	2	60,299,172 (GRCm38)	missense	probably damaging	1.00
IGL01982:Ly75	APN	2	60,311,764 (GRCm38)	missense	probably damaging	1.00
IGL02075:Ly75	APN	2	60,352,356 (GRCm38)	missense	probably damaging	0.99
IGL02338:Ly75	APN	2	60,354,452 (GRCm38)	missense	probably benign	0.04
IGL02364:Ly75	APN	2	60,358,507 (GRCm38)	missense	probably damaging	1.00
IGL02456:Ly75	APN	2	60,293,781 (GRCm38)	missense	probably benign	0.09
IGL02474:Ly75	APN	2	60,383,182 (GRCm38)	missense	probably null	1.00
IGL02608:Ly75	APN	2	60,321,900 (GRCm38)	missense	probably benign	0.41
IGL02986:Ly75	APN	2	60,308,191 (GRCm38)	missense	probably damaging	1.00
IGL03015:Ly75	APN	2	60,376,160 (GRCm38)	missense	probably damaging	1.00
IGL03049:Ly75	APN	2	60,352,070 (GRCm38)	missense	probably damaging	0.99
euphues	UTSW	2	60,299,045 (GRCm38)	critical splice donor site	probably null
four_score	UTSW	2	60,311,771 (GRCm38)	missense	possibly damaging	0.75
lyly	UTSW	2	60,327,873 (GRCm38)	missense	possibly damaging	0.49
Witty	UTSW	2	60,354,500 (GRCm38)	missense	probably damaging	1.00
D605:Ly75	UTSW	2	60,352,352 (GRCm38)	critical splice donor site	probably null
R0046:Ly75	UTSW	2	60,339,457 (GRCm38)	intron	probably benign
R0055:Ly75	UTSW	2	60,321,918 (GRCm38)	missense	probably benign	0.01
R0055:Ly75	UTSW	2	60,321,918 (GRCm38)	missense	probably benign	0.01
R0071:Ly75	UTSW	2	60,321,819 (GRCm38)	missense	probably benign	0.01
R0071:Ly75	UTSW	2	60,321,819 (GRCm38)	missense	probably benign	0.01
R0285:Ly75	UTSW	2	60,318,319 (GRCm38)	missense	probably damaging	1.00
R0387:Ly75	UTSW	2	60,306,404 (GRCm38)	missense	probably benign	0.20
R0492:Ly75	UTSW	2	60,308,276 (GRCm38)	missense	probably damaging	1.00
R0688:Ly75	UTSW	2	60,316,221 (GRCm38)	missense	probably benign	0.41
R1367:Ly75	UTSW	2	60,293,758 (GRCm38)	splice site	probably null
R1463:Ly75	UTSW	2	60,368,757 (GRCm38)	critical splice donor site	probably null
R1581:Ly75	UTSW	2	60,327,893 (GRCm38)	missense	probably damaging	1.00
R1663:Ly75	UTSW	2	60,314,234 (GRCm38)	missense	probably damaging	1.00
R1818:Ly75	UTSW	2	60,311,777 (GRCm38)	missense	probably damaging	1.00
R1881:Ly75	UTSW	2	60,349,940 (GRCm38)	missense	probably benign	0.00
R2244:Ly75	UTSW	2	60,349,913 (GRCm38)	missense	probably benign	0.01
R2905:Ly75	UTSW	2	60,334,554 (GRCm38)	missense	probably benign	0.00
R3967:Ly75	UTSW	2	60,327,873 (GRCm38)	missense	possibly damaging	0.49
R3968:Ly75	UTSW	2	60,327,873 (GRCm38)	missense	possibly damaging	0.49
R4039:Ly75	UTSW	2	60,352,995 (GRCm38)	missense	probably damaging	1.00
R4406:Ly75	UTSW	2	60,354,550 (GRCm38)	missense	probably damaging	1.00
R4526:Ly75	UTSW	2	60,330,773 (GRCm38)	missense	probably benign	0.09
R4647:Ly75	UTSW	2	60,308,278 (GRCm38)	missense	probably damaging	1.00
R4795:Ly75	UTSW	2	60,349,940 (GRCm38)	missense	probably benign	0.00
R4796:Ly75	UTSW	2	60,349,940 (GRCm38)	missense	probably benign	0.00
R4962:Ly75	UTSW	2	60,352,125 (GRCm38)	missense	probably damaging	1.00
R4979:Ly75	UTSW	2	60,375,894 (GRCm38)	missense	probably damaging	1.00
R5072:Ly75	UTSW	2	60,375,963 (GRCm38)	missense	probably damaging	1.00
R5288:Ly75	UTSW	2	60,303,641 (GRCm38)	missense	probably damaging	1.00
R5373:Ly75	UTSW	2	60,311,771 (GRCm38)	missense	possibly damaging	0.75
R5374:Ly75	UTSW	2	60,311,771 (GRCm38)	missense	possibly damaging	0.75
R5384:Ly75	UTSW	2	60,334,487 (GRCm38)	nonsense	probably null
R5385:Ly75	UTSW	2	60,303,641 (GRCm38)	missense	probably damaging	1.00
R5395:Ly75	UTSW	2	60,365,111 (GRCm38)	missense	probably benign	0.41
R5531:Ly75	UTSW	2	60,365,145 (GRCm38)	missense	probably damaging	0.98
R5662:Ly75	UTSW	2	60,352,381 (GRCm38)	missense	probably damaging	1.00
R5667:Ly75	UTSW	2	60,308,311 (GRCm38)	missense	probably damaging	1.00
R5668:Ly75	UTSW	2	60,354,500 (GRCm38)	missense	probably damaging	1.00
R5671:Ly75	UTSW	2	60,308,311 (GRCm38)	missense	probably damaging	1.00
R5677:Ly75	UTSW	2	60,299,082 (GRCm38)	missense	probably benign	0.00
R5764:Ly75	UTSW	2	60,318,439 (GRCm38)	missense	probably benign
R5896:Ly75	UTSW	2	60,383,146 (GRCm38)	missense	probably benign
R6025:Ly75	UTSW	2	60,375,962 (GRCm38)	missense	probably damaging	1.00
R6113:Ly75	UTSW	2	60,368,873 (GRCm38)	missense	probably benign	0.04
R6448:Ly75	UTSW	2	60,299,045 (GRCm38)	critical splice donor site	probably null
R6601:Ly75	UTSW	2	60,318,376 (GRCm38)	missense	probably benign	0.11
R6745:Ly75	UTSW	2	60,308,179 (GRCm38)	missense	probably damaging	1.00
R6955:Ly75	UTSW	2	60,327,873 (GRCm38)	missense	possibly damaging	0.49
R6960:Ly75	UTSW	2	60,306,405 (GRCm38)	missense	probably benign
R7100:Ly75	UTSW	2	60,306,434 (GRCm38)	missense	probably benign
R7110:Ly75	UTSW	2	60,376,184 (GRCm38)	missense	probably benign	0.31
R7203:Ly75	UTSW	2	60,323,852 (GRCm38)	nonsense	probably null
R7291:Ly75	UTSW	2	60,329,993 (GRCm38)	missense	probably damaging	0.98
R7308:Ly75	UTSW	2	60,334,515 (GRCm38)	missense	probably benign	0.04
R7447:Ly75	UTSW	2	60,334,474 (GRCm38)	nonsense	probably null
R7595:Ly75	UTSW	2	60,293,827 (GRCm38)	missense	probably benign	0.01
R7976:Ly75	UTSW	2	60,365,088 (GRCm38)	missense	probably damaging	1.00
R8005:Ly75	UTSW	2	60,332,934 (GRCm38)	missense	probably damaging	1.00
R8171:Ly75	UTSW	2	60,314,228 (GRCm38)	missense	possibly damaging	0.51
R8392:Ly75	UTSW	2	60,349,940 (GRCm38)	missense	probably benign	0.00
R8705:Ly75	UTSW	2	60,318,385 (GRCm38)	missense	probably damaging	0.98
R8714:Ly75	UTSW	2	60,334,485 (GRCm38)	missense	probably damaging	1.00
R8798:Ly75	UTSW	2	60,323,926 (GRCm38)	missense	probably benign	0.32
R8799:Ly75	UTSW	2	60,348,441 (GRCm38)	missense	probably damaging	1.00
R8834:Ly75	UTSW	2	60,331,089 (GRCm38)	missense	probably benign
R8990:Ly75	UTSW	2	60,358,559 (GRCm38)	missense	probably benign	0.10
R9015:Ly75	UTSW	2	60,316,098 (GRCm38)	missense	probably benign
R9547:Ly75	UTSW	2	60,330,725 (GRCm38)	critical splice donor site	probably null
R9628:Ly75	UTSW	2	60,327,941 (GRCm38)	missense	probably damaging	1.00
R9659:Ly75	UTSW	2	60,338,321 (GRCm38)	missense	probably damaging	1.00
R9660:Ly75	UTSW	2	60,323,840 (GRCm38)	missense	probably damaging	1.00
R9747:Ly75	UTSW	2	60,306,328 (GRCm38)	critical splice donor site	probably null
X0025:Ly75	UTSW	2	60,354,475 (GRCm38)	missense	probably damaging	1.00
Z1177:Ly75	UTSW	2	60,352,133 (GRCm38)	missense	possibly damaging	0.65
Z1177:Ly75	UTSW	2	60,350,004 (GRCm38)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CAAGGACCTGCCCAATTTTGAC -3'
(R):5'- ACTTGGAAAACCCTTGCCCG -3'

Sequencing Primer
(F):5'- AATTTTGACCTCTGCACTGCTG -3'
(R):5'- TTGCCCGAGCTGCTGAGTTAC -3'

Posted On

2019-10-17