Mutagenetix > Incidental Mutation

Incidental Mutation 'R3835:Lrrc10'

275594

Institutional Source

Beutler Lab

Gene Symbol

Lrrc10

Ensembl Gene

ENSMUSG00000060187

Gene Name

leucine rich repeat containing 10

Synonyms

D330003I11Rik, Hrlrrp, Serdin1

MMRRC Submission

040890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3835 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

116881246-116882673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 116881691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 122 (N122D)

Ref Sequence

ENSEMBL: ENSMUSP00000073502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073834]

AlphaFold

Q8K3W2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073834
AA Change: N122D

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000073502
Gene: ENSMUSG00000060187
AA Change: N122D

Domain	Start	End	E-Value	Type
LRR	51	73	3.75e0	SMART
LRR	74	95	2.2e1	SMART
LRR	97	119	2.76e1	SMART
LRR_TYP	120	143	1.92e-2	SMART
LRR	166	189	1.62e0	SMART
low complexity region	265	274	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217799

Meta Mutation Damage Score

0.0729

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (43/44)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null mutation are viable and fertile. They show prenatal systolic dysfunction and development of dilated cardiomyopathy in postnatal life. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	T	C	3: 151,216,254 (GRCm39)	I479T	probably damaging	Het
Adh6a	G	A	3: 138,033,275 (GRCm39)		probably null	Het
Anapc7	A	G	5: 122,581,940 (GRCm39)	T528A	possibly damaging	Het
Ap5b1	A	G	19: 5,618,918 (GRCm39)	T113A	possibly damaging	Het
Apaf1	G	A	10: 90,895,449 (GRCm39)	R439C	probably benign	Het
Apoa5	A	T	9: 46,181,878 (GRCm39)	H318L	probably damaging	Het
Bltp2	A	G	11: 78,169,911 (GRCm39)	R1545G	probably benign	Het
Btnl9	T	G	11: 49,071,512 (GRCm39)	T104P	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Dennd5a	T	C	7: 109,533,449 (GRCm39)	K107R	probably benign	Het
Dthd1	A	T	5: 63,007,128 (GRCm39)	R610W	probably damaging	Het
Eno1	T	C	4: 150,331,119 (GRCm39)	S186P	probably benign	Het
Gipc2	C	A	3: 151,833,823 (GRCm39)	V153F	probably damaging	Het
Gpt	A	G	15: 76,582,783 (GRCm39)	Y295C	probably damaging	Het
Kcnh5	T	A	12: 74,945,044 (GRCm39)	Q735L	probably benign	Het
Lrrc37	C	A	11: 103,510,836 (GRCm39)	L377F	unknown	Het
Meis2	T	C	2: 115,752,228 (GRCm39)	H301R	probably damaging	Het
Muc5b	A	T	7: 141,412,918 (GRCm39)	I1955F	unknown	Het
Nalcn	A	T	14: 123,530,834 (GRCm39)		probably benign	Het
Nmt2	T	C	2: 3,315,723 (GRCm39)		probably benign	Het
Nnt	C	T	13: 119,509,031 (GRCm39)	G403R	probably damaging	Het
Or4a79	T	G	2: 89,551,799 (GRCm39)	I219L	possibly damaging	Het
Or4d6	T	A	19: 12,086,764 (GRCm39)	I49F	possibly damaging	Het
Or5b109	A	T	19: 13,212,103 (GRCm39)	D163V	probably benign	Het
Ovgp1	A	G	3: 105,893,631 (GRCm39)	E468G	probably benign	Het
Pax6	G	A	2: 105,526,795 (GRCm39)	E234K	probably benign	Het
Prkdc	A	G	16: 15,609,810 (GRCm39)	E3138G	probably damaging	Het
Prmt6	T	C	3: 110,158,121 (GRCm39)	D56G	possibly damaging	Het
Ptprt	A	G	2: 161,389,307 (GRCm39)	V1261A	probably damaging	Het
Qtrt2	A	G	16: 43,701,435 (GRCm39)	S42P	probably damaging	Het
Rab9b	C	T	X: 135,762,259 (GRCm39)	R47Q	possibly damaging	Het
Rpgrip1	A	G	14: 52,384,710 (GRCm39)	E606G	probably damaging	Het
Setx	C	T	2: 29,035,072 (GRCm39)	S519L	possibly damaging	Het
Slc15a2	A	T	16: 36,592,490 (GRCm39)	C191*	probably null	Het
Snrk	T	C	9: 121,966,069 (GRCm39)		probably benign	Het
St6galnac1	T	C	11: 116,657,109 (GRCm39)	D422G	probably damaging	Het
Stag1	C	T	9: 100,620,035 (GRCm39)	T46I	probably damaging	Het
Tagln	T	C	9: 45,843,008 (GRCm39)	I18V	probably benign	Het
Tasor2	T	C	13: 3,625,292 (GRCm39)	T1553A	probably benign	Het
Tbx18	C	A	9: 87,611,689 (GRCm39)	A114S	probably benign	Het
Ttc16	T	C	2: 32,659,322 (GRCm39)	D259G	probably damaging	Het
Vldlr	A	G	19: 27,212,214 (GRCm39)	D76G	probably damaging	Het
Vmn2r24	G	T	6: 123,764,412 (GRCm39)	D430Y	probably benign	Het
Xlr3a	T	C	X: 72,138,644 (GRCm39)	E5G	probably damaging	Het

Other mutations in Lrrc10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01985:Lrrc10	APN	10	116,881,921 (GRCm39)	missense	probably damaging	1.00
R0077:Lrrc10	UTSW	10	116,881,419 (GRCm39)	missense	probably damaging	1.00
R0110:Lrrc10	UTSW	10	116,881,695 (GRCm39)	missense	probably damaging	1.00
R0469:Lrrc10	UTSW	10	116,881,695 (GRCm39)	missense	probably damaging	1.00
R0510:Lrrc10	UTSW	10	116,881,695 (GRCm39)	missense	probably damaging	1.00
R1293:Lrrc10	UTSW	10	116,881,838 (GRCm39)	missense	probably benign	0.02
R1642:Lrrc10	UTSW	10	116,881,788 (GRCm39)	missense	probably damaging	1.00
R4413:Lrrc10	UTSW	10	116,881,719 (GRCm39)	missense	probably damaging	1.00
R5165:Lrrc10	UTSW	10	116,881,965 (GRCm39)	missense	probably benign	0.02
R5289:Lrrc10	UTSW	10	116,881,392 (GRCm39)	missense	probably benign	0.01
R5605:Lrrc10	UTSW	10	116,881,805 (GRCm39)	missense	probably damaging	1.00
R6418:Lrrc10	UTSW	10	116,881,616 (GRCm39)	missense	probably damaging	1.00
R6827:Lrrc10	UTSW	10	116,881,545 (GRCm39)	missense	possibly damaging	0.79
R6916:Lrrc10	UTSW	10	116,881,454 (GRCm39)	missense	possibly damaging	0.80
R7678:Lrrc10	UTSW	10	116,881,662 (GRCm39)	missense	probably benign	0.00
R8866:Lrrc10	UTSW	10	116,881,858 (GRCm39)	missense	probably damaging	0.99
R9355:Lrrc10	UTSW	10	116,881,881 (GRCm39)	missense	probably damaging	1.00
X0020:Lrrc10	UTSW	10	116,881,335 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGGTGAAGCTCTACCTCAGC -3'
(R):5'- ATCACCTCCAGAAAGGGCATG -3'

Sequencing Primer
(F):5'- TGAAGCTCTACCTCAGCGACAAC -3'
(R):5'- CCGAGGGGAAGTCAGCTAGC -3'

Posted On

2015-04-06