Mutagenetix > Incidental Mutation

Incidental Mutation 'R9803:Lrrc4'

735310

Institutional Source

Beutler Lab

Gene Symbol

Lrrc4

Ensembl Gene

ENSMUSG00000049939

Gene Name

leucine rich repeat containing 4

Synonyms

Nag14, NGL-2, NGL2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.208) question?

Stock #

R9803 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28828125-28831746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 28662199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 172 (A172T)

Ref Sequence

ENSEMBL: ENSMUSP00000129497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001460] [ENSMUST00000164915] [ENSMUST00000167201] [ENSMUST00000171353]

AlphaFold

Q99PH1

Predicted Effect

probably benign
Transcript: ENSMUST00000001460

SMART Domains

Protein: ENSMUSP00000001460
Gene: ENSMUSG00000001424

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SNc	18	166	7.12e-54	SMART
SNc	193	328	8.37e-51	SMART
SNc	341	496	4.11e-59	SMART
SNc	525	660	3.82e-45	SMART
TUDOR	728	785	4.8e-19	SMART
Pfam:SNase	835	895	1.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164915

SMART Domains

Protein: ENSMUSP00000127317
Gene: ENSMUSG00000001424

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SNc	18	142	1.56e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000167201

SMART Domains

Protein: ENSMUSP00000128737
Gene: ENSMUSG00000001424

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
SNc	18	166	7.12e-54	SMART
SNc	193	328	8.37e-51	SMART
SNc	341	496	4.11e-59	SMART
SCOP:d1sty__	526	592	1e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000171353
AA Change: A172T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000129497
Gene: ENSMUSG00000049939
AA Change: A172T

Domain	Start	End	E-Value	Type
low complexity region	29	39	N/A	INTRINSIC
transmembrane domain	104	126	N/A	INTRINSIC
low complexity region	152	163	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is significantly downregulated in primary brain tumors. The exact function of the protein encoded by this gene is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit hyperactivity, an absence of startle reflex, and abnormal ABR amplitude. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	G	5: 113,841,964 (GRCm39)	S52P	unknown	Het
Ank2	A	G	3: 126,752,726 (GRCm39)	M330T	possibly damaging	Het
Ankar	C	T	1: 72,698,340 (GRCm39)	V905I	possibly damaging	Het
Anln	G	T	9: 22,283,518 (GRCm39)	D438E	probably damaging	Het
C1ql3	T	C	2: 13,009,200 (GRCm39)	N215S	probably damaging	Het
Ccdc110	A	G	8: 46,395,626 (GRCm39)	S506G	probably benign	Het
Ccdc87	A	G	19: 4,891,175 (GRCm39)	T556A	probably benign	Het
Cma1	A	T	14: 56,179,186 (GRCm39)	N236K	probably benign	Het
Csmd2	T	C	4: 128,262,986 (GRCm39)	F724S		Het
Cts8	T	C	13: 61,401,136 (GRCm39)	K130R	possibly damaging	Het
Daam1	A	T	12: 71,990,922 (GRCm39)	T179S	unknown	Het
Fancd2os	T	C	6: 113,574,938 (GRCm39)	T23A	possibly damaging	Het
Gbgt1	T	A	2: 28,394,866 (GRCm39)	I168N	probably damaging	Het
Gckr	G	A	5: 31,457,368 (GRCm39)	G127D	probably damaging	Het
Gm11444	G	A	11: 85,737,699 (GRCm39)	Q164*	probably null	Het
Gm28042	T	A	2: 119,868,984 (GRCm39)	V526E	possibly damaging	Het
Gm8947	T	C	1: 151,068,722 (GRCm39)	V185A	possibly damaging	Het
Hoxd13	C	A	2: 74,499,247 (GRCm39)	H198Q	possibly damaging	Het
Hps6	T	A	19: 45,993,947 (GRCm39)	L628*	probably null	Het
Igha	G	A	12: 113,222,759 (GRCm39)	H221Y		Het
Ighm	A	G	12: 113,382,635 (GRCm39)	S453P		Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Lfng	A	G	5: 140,593,528 (GRCm39)	T120A	probably damaging	Het
Lrrc56	A	G	7: 140,787,520 (GRCm39)	T386A	probably benign	Het
Mapkbp1	A	T	2: 119,841,256 (GRCm39)	H81L	probably benign	Het
Mfsd14b	C	A	13: 65,221,414 (GRCm39)	V293L	probably benign	Het
Mrto4	T	A	4: 139,076,381 (GRCm39)	N70I	probably damaging	Het
Mxra8	C	T	4: 155,924,282 (GRCm39)		probably benign	Het
Myo1h	A	G	5: 114,483,997 (GRCm39)	E548G		Het
Ncan	C	T	8: 70,560,751 (GRCm39)	D739N	probably benign	Het
Or2t45	T	C	11: 58,669,595 (GRCm39)	V214A	probably benign	Het
Oxgr1	T	C	14: 120,259,563 (GRCm39)	T215A	possibly damaging	Het
Pcdhgb7	T	A	18: 37,885,088 (GRCm39)	V86E	probably damaging	Het
Pclo	G	A	5: 14,762,629 (GRCm39)	V416M		Het
Phf3	G	T	1: 30,869,872 (GRCm39)	T392K	probably benign	Het
Pkhd1	A	T	1: 20,637,073 (GRCm39)	V379E	probably damaging	Het
Ppfia3	T	C	7: 44,990,539 (GRCm39)	Y1080C	probably benign	Het
Ptprs	C	A	17: 56,729,217 (GRCm39)	G1254C	probably damaging	Het
Qsox1	A	T	1: 155,658,416 (GRCm39)	D384E	probably benign	Het
Rergl	A	G	6: 139,477,761 (GRCm39)	F23L	probably damaging	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Sidt2	A	G	9: 45,854,912 (GRCm39)	Y588H	probably damaging	Het
Tas2r139	T	A	6: 42,118,066 (GRCm39)	I66K	probably damaging	Het
Tbc1d30	T	A	10: 121,107,980 (GRCm39)	D474V	probably damaging	Het
Tenm4	G	A	7: 96,202,685 (GRCm39)	G100D	probably damaging	Het
Tmem258	G	A	19: 10,184,637 (GRCm39)	V75I	probably benign	Het
Tmem91	G	T	7: 25,369,988 (GRCm39)	H95N	probably damaging	Het
Trps1	T	C	15: 50,710,090 (GRCm39)	K87E	possibly damaging	Het
Tspan11	T	A	6: 127,920,680 (GRCm39)	M209K	probably benign	Het
Tspan17	C	A	13: 54,941,092 (GRCm39)	Q124K	probably benign	Het
Uts2b	G	A	16: 27,179,692 (GRCm39)	R105*	probably null	Het
Vmn2r110	T	A	17: 20,803,730 (GRCm39)	T282S	probably benign	Het
Xdh	T	A	17: 74,229,455 (GRCm39)	M333L	probably benign	Het
Zbtb3	A	G	19: 8,781,833 (GRCm39)	E482G	probably damaging	Het

Other mutations in Lrrc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02230:Lrrc4	APN	6	28,830,879 (GRCm39)	missense	probably damaging	0.99
IGL03223:Lrrc4	APN	6	28,831,469 (GRCm39)	missense	probably damaging	1.00
IGL03410:Lrrc4	APN	6	28,830,515 (GRCm39)	missense	probably damaging	1.00
R0233:Lrrc4	UTSW	6	28,829,734 (GRCm39)	missense	probably benign	0.05
R0233:Lrrc4	UTSW	6	28,829,734 (GRCm39)	missense	probably benign	0.05
R0456:Lrrc4	UTSW	6	28,831,103 (GRCm39)	missense	probably damaging	1.00
R1162:Lrrc4	UTSW	6	28,831,083 (GRCm39)	missense	probably damaging	1.00
R2001:Lrrc4	UTSW	6	28,830,904 (GRCm39)	missense	probably damaging	1.00
R2089:Lrrc4	UTSW	6	28,830,586 (GRCm39)	missense	probably benign	0.45
R2091:Lrrc4	UTSW	6	28,830,586 (GRCm39)	missense	probably benign	0.45
R2091:Lrrc4	UTSW	6	28,830,586 (GRCm39)	missense	probably benign	0.45
R2353:Lrrc4	UTSW	6	28,831,451 (GRCm39)	missense	probably benign	0.00
R5079:Lrrc4	UTSW	6	28,830,769 (GRCm39)	missense	possibly damaging	0.69
R5197:Lrrc4	UTSW	6	28,830,142 (GRCm39)	missense	probably damaging	1.00
R6701:Lrrc4	UTSW	6	28,830,905 (GRCm39)	missense	possibly damaging	0.95
R6755:Lrrc4	UTSW	6	28,831,292 (GRCm39)	missense	probably damaging	1.00
R7660:Lrrc4	UTSW	6	28,829,816 (GRCm39)	missense	probably benign	0.00
R7661:Lrrc4	UTSW	6	28,829,762 (GRCm39)	missense	probably benign	0.00
R8113:Lrrc4	UTSW	6	28,829,902 (GRCm39)	missense	probably damaging	0.97
R8272:Lrrc4	UTSW	6	28,662,192 (GRCm39)	missense	unknown
R9074:Lrrc4	UTSW	6	28,831,595 (GRCm39)	missense	probably damaging	0.99
R9094:Lrrc4	UTSW	6	28,830,206 (GRCm39)	missense	possibly damaging	0.92
R9197:Lrrc4	UTSW	6	28,831,318 (GRCm39)	missense	probably benign	0.01
R9447:Lrrc4	UTSW	6	28,830,650 (GRCm39)	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CTAGGAATATAGTACCAAGGGACTC -3'
(R):5'- AGGGCCTTCCATACATACTACTC -3'

Sequencing Primer
(F):5'- GGACTCAGGCCATTACCATATGTG -3'
(R):5'- ACAGGTCAGTCATCCGTT -3'

Posted On

2022-11-14