Mutagenetix > Incidental Mutation

Incidental Mutation 'R7177:Lrrc1'

558701

Institutional Source

Beutler Lab

Gene Symbol

Lrrc1

Ensembl Gene

ENSMUSG00000032352

Gene Name

leucine rich repeat containing 1

Synonyms

A430093J20Rik

MMRRC Submission

045268-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.245) question?

Stock #

R7177 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

77338105-77452152 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 77379504 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 96 (E96*)

Ref Sequence

ENSEMBL: ENSMUSP00000139226 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113421] [ENSMUST00000183734] [ENSMUST00000183873]

AlphaFold

Q80VQ1

Predicted Effect

probably null
Transcript: ENSMUST00000113421
AA Change: E51*

SMART Domains

Protein: ENSMUSP00000109048
Gene: ENSMUSG00000032352
AA Change: E51*

Domain	Start	End	E-Value	Type
LRR	13	35	6.57e-1	SMART
LRR	36	59	1.12e2	SMART
LRR	82	104	2.15e2	SMART
LRR	105	127	3.09e1	SMART
LRR	128	150	2.14e0	SMART
LRR	151	173	3.02e0	SMART
LRR	174	196	3.47e0	SMART
LRR	197	219	6.58e0	SMART
LRR_TYP	220	243	4.72e-2	SMART
LRR	266	289	8.97e0	SMART
LRR	313	335	1.49e2	SMART
coiled coil region	440	461	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000183734
AA Change: E96*

SMART Domains

Protein: ENSMUSP00000138912
Gene: ENSMUSG00000032352
AA Change: E96*

Domain	Start	End	E-Value	Type
LRR	36	57	3.18e1	SMART
LRR	58	80	6.57e-1	SMART
LRR	81	104	1.12e2	SMART
LRR	127	149	2.15e2	SMART
LRR	150	172	3.09e1	SMART
LRR	173	195	2.14e0	SMART
LRR	196	218	3.02e0	SMART
LRR	219	241	3.47e0	SMART
LRR	242	264	6.58e0	SMART
LRR_TYP	265	288	4.72e-2	SMART
LRR	289	311	8.03e1	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000183873
AA Change: E96*

SMART Domains

Protein: ENSMUSP00000139226
Gene: ENSMUSG00000032352
AA Change: E96*

Domain	Start	End	E-Value	Type
LRR	36	57	3.18e1	SMART
LRR	58	80	6.57e-1	SMART
LRR	81	104	1.12e2	SMART
LRR	127	149	2.15e2	SMART
LRR	150	172	3.09e1	SMART
LRR	173	195	2.14e0	SMART
LRR	196	218	3.02e0	SMART
LRR	219	241	3.47e0	SMART
LRR	242	264	6.58e0	SMART
LRR_TYP	265	288	4.72e-2	SMART
LRR	311	334	8.97e0	SMART
LRR	358	380	1.49e2	SMART
coiled coil region	485	506	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	T	C	9: 53,325,685 (GRCm39)	L74S	probably damaging	Het
5730409E04Rik	A	G	4: 126,505,525 (GRCm39)	S18G	probably benign	Het
Adam29	A	G	8: 56,325,659 (GRCm39)	I265T	probably benign	Het
Aff4	C	T	11: 53,297,466 (GRCm39)	S896L	probably benign	Het
Ankrd27	T	C	7: 35,318,822 (GRCm39)	I571T	probably damaging	Het
Bdp1	C	A	13: 100,186,478 (GRCm39)	R1658I	probably damaging	Het
Carm1	C	T	9: 21,458,323 (GRCm39)	T7M	unknown	Het
Ccdc183	A	G	2: 25,506,296 (GRCm39)	V100A	probably damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ceacam2	T	G	7: 25,220,341 (GRCm39)	D239A	probably benign	Het
Cfap96	T	A	8: 46,423,444 (GRCm39)	E89D	possibly damaging	Het
Cimap1c	T	A	9: 56,757,262 (GRCm39)	M139L	possibly damaging	Het
Cmya5	T	C	13: 93,231,836 (GRCm39)	D1084G	probably benign	Het
Cog5	T	A	12: 31,810,888 (GRCm39)	I194K	probably damaging	Het
Col20a1	C	T	2: 180,636,007 (GRCm39)	Q211*	probably null	Het
Col9a1	T	A	1: 24,234,498 (GRCm39)	L13Q	unknown	Het
Cracr2a	A	T	6: 127,585,669 (GRCm39)	M156L	probably benign	Het
Cts8	C	T	13: 61,399,505 (GRCm39)	M151I	possibly damaging	Het
Cyp2ab1	A	T	16: 20,135,469 (GRCm39)	L11Q	probably null	Het
Dhrs13	T	A	11: 77,925,208 (GRCm39)	C160S	probably benign	Het
Enthd1	T	A	15: 80,358,415 (GRCm39)	E368D	probably damaging	Het
Fbh1	A	G	2: 11,760,522 (GRCm39)	I676T	probably damaging	Het
Fcgrt	T	C	7: 44,751,421 (GRCm39)	R176G	probably benign	Het
Gatd1	A	G	7: 140,990,947 (GRCm39)	F67L	possibly damaging	Het
Gm4353	G	A	7: 115,683,727 (GRCm39)	P23S	probably damaging	Het
Gm6882	T	A	7: 21,161,677 (GRCm39)	I64F	possibly damaging	Het
Grwd1	A	T	7: 45,480,204 (GRCm39)	M1K	probably null	Het
Hook2	T	A	8: 85,718,046 (GRCm39)	S58T	probably benign	Het
Iqch	T	G	9: 63,329,117 (GRCm39)	*1072C	probably null	Het
Kmt2d	G	A	15: 98,748,267 (GRCm39)	T3019I	unknown	Het
Lmx1a	T	C	1: 167,674,247 (GRCm39)	S356P	probably benign	Het
Lrig3	A	G	10: 125,842,712 (GRCm39)	M546V	probably benign	Het
Lrtm2	C	A	6: 119,294,113 (GRCm39)	M339I	probably damaging	Het
Map10	T	C	8: 126,398,584 (GRCm39)	V659A	probably benign	Het
Map7d1	A	G	4: 126,130,778 (GRCm39)	C384R	probably damaging	Het
Mcur1	T	C	13: 43,698,012 (GRCm39)	D296G	probably damaging	Het
Mettl24	A	T	10: 40,686,508 (GRCm39)	H295L	probably damaging	Het
Mgat4f	T	C	1: 134,318,163 (GRCm39)	S312P	probably benign	Het
Mpl	A	G	4: 118,305,741 (GRCm39)		probably null	Het
Mrps5	T	C	2: 127,437,617 (GRCm39)	V148A	probably benign	Het
N4bp2	T	C	5: 65,964,891 (GRCm39)	V980A	probably damaging	Het
Ncaph	A	T	2: 126,958,506 (GRCm39)	D504E	probably damaging	Het
Nxph1	A	G	6: 9,247,497 (GRCm39)	N156S	probably damaging	Het
Or2t26	T	A	11: 49,040,012 (GRCm39)	C309*	probably null	Het
Or4f14b	T	A	2: 111,775,501 (GRCm39)	Q100L	probably damaging	Het
Pafah1b3	T	A	7: 24,994,657 (GRCm39)	I186L	probably benign	Het
Papola	C	A	12: 105,775,790 (GRCm39)	N235K	possibly damaging	Het
Pcnx3	A	T	19: 5,737,527 (GRCm39)	M98K	probably benign	Het
Pip4p1	A	C	14: 51,167,634 (GRCm39)	M104R	possibly damaging	Het
Pkhd1l1	A	G	15: 44,330,800 (GRCm39)	N125S	probably damaging	Het
Pls1	T	A	9: 95,655,612 (GRCm39)	H380L	probably benign	Het
Plxna1	T	C	6: 89,300,311 (GRCm39)	T1591A	possibly damaging	Het
Pparg	T	G	6: 115,418,581 (GRCm39)	S147A	probably benign	Het
Prdm10	T	C	9: 31,279,003 (GRCm39)	S1025P	probably benign	Het
Prkcd	T	A	14: 30,321,664 (GRCm39)	H510L	probably damaging	Het
Ptprh	T	A	7: 4,572,480 (GRCm39)	E499D	possibly damaging	Het
Rad51ap1	A	G	6: 126,901,983 (GRCm39)	S256P	probably benign	Het
Rad54b	A	G	4: 11,599,755 (GRCm39)	T320A	probably damaging	Het
Rnf207	A	G	4: 152,396,634 (GRCm39)	I459T	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Ryr3	A	T	2: 112,731,188 (GRCm39)	D727E	probably damaging	Het
Sdk2	C	T	11: 113,720,795 (GRCm39)	R1378H	possibly damaging	Het
Slc7a11	A	G	3: 50,397,680 (GRCm39)	S11P	probably benign	Het
Sox4	A	G	13: 29,137,000 (GRCm39)	V2A	probably damaging	Het
Srf	A	G	17: 46,866,318 (GRCm39)	F146S	probably damaging	Het
Srrm2	T	C	17: 24,035,747 (GRCm39)	V797A	unknown	Het
Stk32c	T	C	7: 138,684,218 (GRCm39)	D463G	possibly damaging	Het
Syne2	C	A	12: 76,018,654 (GRCm39)	Y3384*	probably null	Het
Tektl1	T	C	10: 78,588,324 (GRCm39)	D162G	probably damaging	Het
Traip	T	A	9: 107,838,184 (GRCm39)	M139K	possibly damaging	Het
Trappc2l	T	A	8: 123,341,051 (GRCm39)	F100Y	probably damaging	Het
Ush1c	T	C	7: 45,878,643 (GRCm39)	D124G	probably damaging	Het
Uty	A	G	Y: 1,099,691 (GRCm39)	V1168A	probably benign	Het
Vmn2r25	T	C	6: 123,816,882 (GRCm39)	D233G	possibly damaging	Het
Zdbf2	C	T	1: 63,334,120 (GRCm39)	R31C	possibly damaging	Het

Other mutations in Lrrc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02556:Lrrc1	APN	9	77,342,404 (GRCm39)	missense	probably benign	0.00
IGL02975:Lrrc1	APN	9	77,359,929 (GRCm39)	missense	probably damaging	1.00
IGL03063:Lrrc1	APN	9	77,406,551 (GRCm39)	missense	probably damaging	0.99
G1Funyon:Lrrc1	UTSW	9	77,451,770 (GRCm39)	missense	probably damaging	1.00
R0610:Lrrc1	UTSW	9	77,379,488 (GRCm39)	missense	possibly damaging	0.95
R1462:Lrrc1	UTSW	9	77,349,547 (GRCm39)	missense	probably benign	0.01
R1462:Lrrc1	UTSW	9	77,349,547 (GRCm39)	missense	probably benign	0.01
R1615:Lrrc1	UTSW	9	77,342,400 (GRCm39)	missense	possibly damaging	0.94
R2932:Lrrc1	UTSW	9	77,364,721 (GRCm39)	missense	probably benign	0.01
R5087:Lrrc1	UTSW	9	77,364,740 (GRCm39)	missense	probably benign
R5907:Lrrc1	UTSW	9	77,341,379 (GRCm39)	missense	probably damaging	0.99
R6443:Lrrc1	UTSW	9	77,341,314 (GRCm39)	missense	probably damaging	1.00
R6502:Lrrc1	UTSW	9	77,349,473 (GRCm39)	missense	probably damaging	1.00
R7073:Lrrc1	UTSW	9	77,375,847 (GRCm39)	missense	probably benign	0.04
R7162:Lrrc1	UTSW	9	77,339,472 (GRCm39)	missense	probably benign	0.13
R7290:Lrrc1	UTSW	9	77,365,121 (GRCm39)	missense	probably benign	0.01
R7885:Lrrc1	UTSW	9	77,349,471 (GRCm39)	missense	probably damaging	0.97
R8301:Lrrc1	UTSW	9	77,451,770 (GRCm39)	missense	probably damaging	1.00
R8375:Lrrc1	UTSW	9	77,365,129 (GRCm39)	missense	probably damaging	1.00
R8945:Lrrc1	UTSW	9	77,342,373 (GRCm39)	missense	probably damaging	1.00
R9188:Lrrc1	UTSW	9	77,362,487 (GRCm39)	missense	probably benign	0.42
R9225:Lrrc1	UTSW	9	77,359,955 (GRCm39)	missense	probably benign	0.00
R9336:Lrrc1	UTSW	9	77,349,480 (GRCm39)	missense	probably damaging	1.00
R9574:Lrrc1	UTSW	9	77,358,708 (GRCm39)	missense	probably damaging	0.97
RF020:Lrrc1	UTSW	9	77,359,913 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCATTTGGCAGAGACAGCG -3'
(R):5'- AGAGGTCCAGCACTGCCTC -3'

Sequencing Primer
(F):5'- GCCCCACCACTTGGCTG -3'
(R):5'- ACAGGTCTGTCTCTCGAAGCAG -3'

Posted On

2019-06-26