Mutagenetix > Incidental Mutation

Incidental Mutation 'R7319:Lrch4'

568048

Institutional Source

Beutler Lab

Gene Symbol

Lrch4

Ensembl Gene

ENSMUSG00000093445

Gene Name

leucine-rich repeats and calponin homology (CH) domain containing 4

Synonyms

LRRN4, LRN, 2810008P14Rik, 2900069C24Rik

MMRRC Submission

045415-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R7319 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

137627385-137639361 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 137637977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 86 (H86Q)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031734] [ENSMUST00000057314] [ENSMUST00000166099] [ENSMUST00000175968] [ENSMUST00000176667] [ENSMUST00000177466] [ENSMUST00000177477] [ENSMUST00000177545] [ENSMUST00000196511]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031734

SMART Domains

Protein: ENSMUSP00000031734
Gene: ENSMUSG00000093445

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
LRR	90	112	4.84e1	SMART
LRR_TYP	113	136	4.61e-5	SMART
LRR	158	180	2.63e0	SMART
LRR_TYP	181	204	1.1e-2	SMART
LRR	226	249	3.98e1	SMART
low complexity region	389	405	N/A	INTRINSIC
low complexity region	440	453	N/A	INTRINSIC
low complexity region	474	479	N/A	INTRINSIC
low complexity region	510	530	N/A	INTRINSIC
CH	533	642	9.24e-15	SMART
transmembrane domain	656	678	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000057314

SMART Domains

Protein: ENSMUSP00000060844
Gene: ENSMUSG00000047182

Domain	Start	End	E-Value	Type
PH	33	135	4.46e-11	SMART
IRS	159	272	1.18e-30	SMART
PTBI	159	272	7.23e-55	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166099

SMART Domains

Protein: ENSMUSP00000127076
Gene: ENSMUSG00000079165

Domain	Start	End	E-Value	Type
Pfam:SAP25	76	261	1.8e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175968

SMART Domains

Protein: ENSMUSP00000134767
Gene: ENSMUSG00000093445

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
LRR	36	58	4.84e1	SMART
LRR_TYP	59	82	4.61e-5	SMART
LRR	104	126	2.63e0	SMART
LRR_TYP	127	150	1.1e-2	SMART
LRR	172	195	3.98e1	SMART
low complexity region	335	351	N/A	INTRINSIC
low complexity region	386	399	N/A	INTRINSIC
low complexity region	420	425	N/A	INTRINSIC
low complexity region	456	476	N/A	INTRINSIC
CH	479	588	9.24e-15	SMART
transmembrane domain	602	624	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176667

SMART Domains

Protein: ENSMUSP00000135832
Gene: ENSMUSG00000093445

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
LRR	90	112	4.84e1	SMART
LRR_TYP	113	136	4.61e-5	SMART
LRR	158	180	2.63e0	SMART
LRR_TYP	181	204	1.1e-2	SMART
LRR	226	249	3.98e1	SMART
low complexity region	389	405	N/A	INTRINSIC
low complexity region	440	453	N/A	INTRINSIC
low complexity region	474	479	N/A	INTRINSIC
low complexity region	510	530	N/A	INTRINSIC
CH	533	648	4.73e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176871

Predicted Effect

probably benign
Transcript: ENSMUST00000177466

Predicted Effect

probably benign
Transcript: ENSMUST00000177477

SMART Domains

Protein: ENSMUSP00000135724
Gene: ENSMUSG00000093445

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177545

SMART Domains

Protein: ENSMUSP00000135286
Gene: ENSMUSG00000029720

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
LRR	90	112	4.84e1	SMART
LRR_TYP	113	136	4.61e-5	SMART
LRR	158	180	2.63e0	SMART
LRR_TYP	181	204	1.1e-2	SMART
LRR	226	249	3.98e1	SMART
low complexity region	389	405	N/A	INTRINSIC
low complexity region	440	453	N/A	INTRINSIC
low complexity region	474	479	N/A	INTRINSIC
low complexity region	510	530	N/A	INTRINSIC
CH	533	642	9.24e-15	SMART
transmembrane domain	656	678	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196511

SMART Domains

Protein: ENSMUSP00000142730
Gene: ENSMUSG00000047182

Domain	Start	End	E-Value	Type
PH	33	135	4.46e-11	SMART
IRS	159	272	1.18e-30	SMART
PTBI	159	272	7.23e-55	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (79/82)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains leucine-rich repeats (LRR) at its amino terminus and that is known to be involved in ligand binding. The carboxyl terminus may act as a membrane anchor. Identified structural elements suggest that the encoded protein resembles a receptor. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	A	T	14: 70,393,635 (GRCm39)	I287N	probably benign	Het
Aco2	G	T	15: 81,787,820 (GRCm39)	E223D	probably damaging	Het
Acsf3	T	A	8: 123,539,770 (GRCm39)	I466N	probably damaging	Het
Albfm1	G	A	5: 90,719,625 (GRCm39)		probably null	Het
Aox3	T	A	1: 58,191,761 (GRCm39)	F438I	probably benign	Het
Arhgap33	T	C	7: 30,225,794 (GRCm39)	T591A	probably benign	Het
Ash1l	C	T	3: 88,888,694 (GRCm39)	A191V	probably benign	Het
Btg2	T	C	1: 134,006,779 (GRCm39)	K5E	probably benign	Het
C1galt1	T	A	6: 7,871,150 (GRCm39)	Y329N	probably damaging	Het
Cacna1h	A	G	17: 25,608,435 (GRCm39)	I824T	possibly damaging	Het
Carmil3	A	G	14: 55,731,817 (GRCm39)	I182V	probably benign	Het
Ccdc150	T	A	1: 54,302,496 (GRCm39)		probably null	Het
Chek1	T	A	9: 36,633,939 (GRCm39)	R129W	probably damaging	Het
Chrna6	A	G	8: 27,896,815 (GRCm39)	M354T	possibly damaging	Het
Cpq	A	G	15: 33,250,185 (GRCm39)	T181A	probably benign	Het
Csmd2	A	T	4: 128,287,472 (GRCm39)	Y1069F		Het
Defb28	T	A	2: 152,361,974 (GRCm39)	C45S	possibly damaging	Het
Dnah1	A	G	14: 31,018,551 (GRCm39)	Y1360H	probably benign	Het
Dnah7c	T	C	1: 46,823,608 (GRCm39)	V3749A	possibly damaging	Het
Dnah7c	T	A	1: 46,819,935 (GRCm39)	D3728E	probably benign	Het
Dym	G	A	18: 75,196,245 (GRCm39)		probably null	Het
Dync2i2	G	A	2: 29,928,341 (GRCm39)	P95L	probably benign	Het
Dzip3	A	G	16: 48,747,903 (GRCm39)		probably null	Het
Eef1akmt4	A	G	16: 20,436,666 (GRCm39)	K163E	probably benign	Het
Fbrs	A	G	7: 127,081,985 (GRCm39)	T242A	possibly damaging	Het
Fgfr3	G	A	5: 33,885,146 (GRCm39)	V87M	possibly damaging	Het
Fst	A	T	13: 114,595,068 (GRCm39)	C19S	probably benign	Het
Gm7276	G	A	18: 77,273,216 (GRCm39)	R173W	unknown	Het
Gm9195	G	A	14: 72,697,929 (GRCm39)	H1284Y	probably benign	Het
Herc6	C	A	6: 57,581,074 (GRCm39)	T258K	probably damaging	Het
Hip1r	A	G	5: 124,137,174 (GRCm39)	Y678C	probably damaging	Het
Ifne	A	T	4: 88,798,243 (GRCm39)	N58K	probably damaging	Het
Ighv1-26	A	T	12: 114,752,163 (GRCm39)	H60Q	possibly damaging	Het
Ints1	A	G	5: 139,746,520 (GRCm39)	F1276L	probably damaging	Het
Itprid2	A	T	2: 79,466,416 (GRCm39)	D82V	probably damaging	Het
Kcnc4	T	A	3: 107,366,100 (GRCm39)	E36V	probably benign	Het
Kcnq2	C	T	2: 180,750,895 (GRCm39)	G315S	probably damaging	Het
Kdm4c	G	A	4: 74,255,200 (GRCm39)	V585M	probably damaging	Het
Klhl26	C	T	8: 70,905,592 (GRCm39)	R106H	probably damaging	Het
Kmo	T	C	1: 175,481,221 (GRCm39)	F313S	probably damaging	Het
Lmtk3	T	A	7: 45,443,740 (GRCm39)	S808T	unknown	Het
Lrch3	A	G	16: 32,815,363 (GRCm39)	T585A	probably benign	Het
Map3k20	A	G	2: 72,195,062 (GRCm39)	D113G	probably damaging	Het
Mbd3l1	T	C	9: 18,396,417 (GRCm39)	S181P	probably benign	Het
Mccc2	T	C	13: 100,104,241 (GRCm39)	T303A	probably benign	Het
Med27	A	G	2: 29,303,490 (GRCm39)	R147G	possibly damaging	Het
Mrps5	T	A	2: 127,437,762 (GRCm39)	S196R	possibly damaging	Het
Muc21	GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG	GGGGTGGG	17: 35,932,935 (GRCm39)		probably benign	Het
Myo16	A	T	8: 10,526,185 (GRCm39)		probably null	Het
Nudt2	A	T	4: 41,477,575 (GRCm39)	M19L	probably benign	Het
Pcdha11	C	T	18: 37,146,245 (GRCm39)	P779S	probably benign	Het
Phykpl	A	G	11: 51,489,530 (GRCm39)	T379A	probably benign	Het
Plekha8	A	C	6: 54,601,206 (GRCm39)	M270L	probably benign	Het
Plekhg5	A	G	4: 152,192,885 (GRCm39)	H593R	probably benign	Het
Polr2a	T	C	11: 69,637,196 (GRCm39)	N293S	possibly damaging	Het
Pramel32	G	A	4: 88,548,184 (GRCm39)	P74S	probably benign	Het
Prex2	T	A	1: 11,232,532 (GRCm39)	N866K	probably benign	Het
Psme4	A	T	11: 30,757,790 (GRCm39)	I308L	probably benign	Het
Ptprb	T	C	10: 116,177,309 (GRCm39)	V1003A	probably benign	Het
Rbbp8	T	A	18: 11,865,269 (GRCm39)	D719E	probably damaging	Het
Rnaset2b	A	T	17: 7,259,166 (GRCm39)	D144V	probably benign	Het
Senp6	T	G	9: 80,033,481 (GRCm39)	D662E	probably damaging	Het
Serpinb3c	T	C	1: 107,200,817 (GRCm39)	N200S	possibly damaging	Het
Serpinb9g	C	G	13: 33,672,543 (GRCm39)	Y113*	probably null	Het
Sgf29	T	C	7: 126,270,821 (GRCm39)	I134T	probably benign	Het
Sh3bp4	T	G	1: 89,080,824 (GRCm39)		probably null	Het
Stab1	G	A	14: 30,862,783 (GRCm39)	L2243F	probably damaging	Het
Sympk	T	C	7: 18,769,770 (GRCm39)	V149A	probably benign	Het
Syt3	C	T	7: 44,041,953 (GRCm39)	Q271*	probably null	Het
Tas2r109	A	G	6: 132,957,663 (GRCm39)	I89T	probably benign	Het
Tgif1	A	G	17: 71,151,847 (GRCm39)	S255P	probably damaging	Het
Tm9sf1	G	A	14: 55,875,432 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,347 (GRCm39)	F161S	possibly damaging	Het
Topaz1	T	A	9: 122,579,428 (GRCm39)	S779R	possibly damaging	Het
Topors	A	G	4: 40,260,540 (GRCm39)	S915P	unknown	Het
Tpm4	C	T	8: 72,900,321 (GRCm39)	L161F	probably damaging	Het
Trim38	C	T	13: 23,975,384 (GRCm39)	T441I	probably damaging	Het
Trpv1	A	G	11: 73,141,620 (GRCm39)	M548V	probably benign	Het
Vmn2r68	T	A	7: 84,883,042 (GRCm39)	T237S	probably benign	Het
Zc3hav1	A	G	6: 38,309,209 (GRCm39)	S538P	probably benign	Het
Zfp541	C	T	7: 15,813,294 (GRCm39)	T649I	probably benign	Het

Other mutations in Lrch4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Lrch4	APN	5	137,636,009 (GRCm39)	missense	possibly damaging	0.49
IGL01862:Lrch4	APN	5	137,635,271 (GRCm39)	missense	probably damaging	1.00
IGL03289:Lrch4	APN	5	137,631,839 (GRCm39)	missense	probably damaging	1.00
R0144:Lrch4	UTSW	5	137,636,805 (GRCm39)	critical splice donor site	probably null
R0724:Lrch4	UTSW	5	137,635,570 (GRCm39)	missense	probably damaging	1.00
R1330:Lrch4	UTSW	5	137,636,051 (GRCm39)	missense	probably damaging	0.99
R1557:Lrch4	UTSW	5	137,635,818 (GRCm39)	missense	probably benign	0.00
R1694:Lrch4	UTSW	5	137,636,723 (GRCm39)	missense	probably benign	0.00
R2358:Lrch4	UTSW	5	137,636,810 (GRCm39)	unclassified	probably benign
R3755:Lrch4	UTSW	5	137,635,992 (GRCm39)	missense	probably damaging	1.00
R3756:Lrch4	UTSW	5	137,635,992 (GRCm39)	missense	probably damaging	1.00
R4608:Lrch4	UTSW	5	137,637,408 (GRCm39)	nonsense	probably null
R5056:Lrch4	UTSW	5	137,635,113 (GRCm39)	missense	probably damaging	1.00
R5114:Lrch4	UTSW	5	137,636,179 (GRCm39)	missense	probably benign
R5181:Lrch4	UTSW	5	137,627,665 (GRCm39)	missense	probably damaging	1.00
R5325:Lrch4	UTSW	5	137,636,168 (GRCm39)	missense	probably damaging	1.00
R5430:Lrch4	UTSW	5	137,636,795 (GRCm39)	missense	possibly damaging	0.46
R5712:Lrch4	UTSW	5	137,636,188 (GRCm39)	missense	possibly damaging	0.57
R5846:Lrch4	UTSW	5	137,631,919 (GRCm39)	missense	probably damaging	1.00
R5909:Lrch4	UTSW	5	137,632,127 (GRCm39)	missense	possibly damaging	0.87
R7525:Lrch4	UTSW	5	137,637,727 (GRCm39)	missense	probably damaging	1.00
R7761:Lrch4	UTSW	5	137,638,025 (GRCm39)	missense
R7848:Lrch4	UTSW	5	137,632,116 (GRCm39)	missense	probably damaging	1.00
R8209:Lrch4	UTSW	5	137,637,997 (GRCm39)	missense
R8226:Lrch4	UTSW	5	137,637,997 (GRCm39)	missense
R8713:Lrch4	UTSW	5	137,638,125 (GRCm39)	nonsense	probably null
R9361:Lrch4	UTSW	5	137,635,076 (GRCm39)	missense	probably damaging	1.00
R9372:Lrch4	UTSW	5	137,631,953 (GRCm39)	missense	possibly damaging	0.70
R9440:Lrch4	UTSW	5	137,636,051 (GRCm39)	missense	probably damaging	0.99
R9752:Lrch4	UTSW	5	137,636,218 (GRCm39)	missense	probably benign
R9796:Lrch4	UTSW	5	137,635,269 (GRCm39)	missense	probably damaging	0.99
RF009:Lrch4	UTSW	5	137,635,805 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCTGCTTCCAGGTCCTAGAGTC -3'
(R):5'- TAGCAACATCAAGCCACGGG -3'

Sequencing Primer
(F):5'- AACGGAGTCCTCCTTTGCCAG -3'
(R):5'- GGCCTTCCCACCCTGCC -3'

Posted On

2019-06-26