Mutagenetix > Incidental Mutation

Incidental Mutation 'R7582:Lrrc4b'

586797

Institutional Source

Beutler Lab

Gene Symbol

Lrrc4b

Ensembl Gene

ENSMUSG00000047085

Gene Name

leucine rich repeat containing 4B

Synonyms

NGL-3, Lrig4, Ngl3

MMRRC Submission

045665-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7582 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44091911-44112775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 44111234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 369 (V369L)

Ref Sequence

ENSEMBL: ENSMUSP00000053123 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035929] [ENSMUST00000058667] [ENSMUST00000127790] [ENSMUST00000135624] [ENSMUST00000146128] [ENSMUST00000152902] [ENSMUST00000156093] [ENSMUST00000156957]

AlphaFold

P0C192

PDB Structure

CRYSTAL STRUCTURE OF THE N-TERMINAL LEUCINE RICH REPEATS OF NETRIN-G LIGAND-3 [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE N-TERMINAL LEUCINE RICH REPEATS AND IMMUNOGLOBULIN DOMAIN OF NETRIN-G LIGAND-3 [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000035929

SMART Domains

Protein: ENSMUSP00000039202
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_3	17	128	3.8e-24	PFAM
Pfam:DUF108	174	265	2.9e-25	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000058667
AA Change: V369L

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

SMART Domains

Protein: ENSMUSP00000053123
Gene: ENSMUSG00000047085
AA Change: V369L

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
LRR	208	229	1.62e2	SMART
LRR_TYP	230	253	3.63e-3	SMART
LRR	254	277	9.75e0	SMART
LRR_TYP	278	301	5.29e-5	SMART
LRRCT	313	364	1.92e-3	SMART
IGc2	378	445	1.45e-9	SMART
low complexity region	462	482	N/A	INTRINSIC
low complexity region	528	547	N/A	INTRINSIC
transmembrane domain	573	595	N/A	INTRINSIC
low complexity region	596	607	N/A	INTRINSIC
low complexity region	624	644	N/A	INTRINSIC
low complexity region	673	686	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127790

SMART Domains

Protein: ENSMUSP00000123389
Gene: ENSMUSG00000047085

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
Blast:LRR	183	207	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000135624

Predicted Effect

probably benign
Transcript: ENSMUST00000146128

SMART Domains

Protein: ENSMUSP00000119474
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_3	5	110	1e-19	PFAM
Pfam:DUF108	153	252	7.5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152902

Predicted Effect

probably benign
Transcript: ENSMUST00000156093

SMART Domains

Protein: ENSMUSP00000119374
Gene: ENSMUSG00000047085

Domain	Start	End	E-Value	Type
signal peptide	1	38	N/A	INTRINSIC
LRRNT	58	92	5.6e-8	SMART
LRR	91	110	1.62e2	SMART
LRR	111	134	1.16e-1	SMART
LRR_TYP	135	158	8.22e-2	SMART
LRR_TYP	159	182	5.99e-4	SMART
Blast:LRR	183	207	2e-6	BLAST
LRR	208	230	3.65e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156957

SMART Domains

Protein: ENSMUSP00000121766
Gene: ENSMUSG00000038704

Domain	Start	End	E-Value	Type
Pfam:DUF108	52	151	2.6e-24	PFAM

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,266,565 (GRCm39)	V1007A	probably damaging	Het
Adgrl3	T	C	5: 81,841,523 (GRCm39)	V800A	probably damaging	Het
Ankfn1	T	A	11: 89,417,445 (GRCm39)	M56L	probably benign	Het
Arfgap3	A	C	15: 83,187,302 (GRCm39)	V72G	possibly damaging	Het
B3galnt2	C	T	13: 14,165,986 (GRCm39)	R294W	probably damaging	Het
Cadm1	G	T	9: 47,708,740 (GRCm39)	D157Y	probably damaging	Het
Castor1	T	C	11: 4,170,457 (GRCm39)	V151A	probably benign	Het
Ccdc81	A	T	7: 89,525,353 (GRCm39)	Y474N	probably damaging	Het
Cdkl4	T	A	17: 80,841,264 (GRCm39)	K297I	probably benign	Het
Cep128	G	A	12: 91,314,340 (GRCm39)	T146M	probably damaging	Het
Cfap161	T	C	7: 83,426,290 (GRCm39)	N236S	possibly damaging	Het
Chil3	A	T	3: 106,071,572 (GRCm39)	W31R	probably damaging	Het
Cmtm2b	C	T	8: 105,049,353 (GRCm39)	S86F	probably damaging	Het
Cntnap5a	G	A	1: 116,374,362 (GRCm39)	G958D	probably damaging	Het
Col6a5	A	G	9: 105,822,625 (GRCm39)	L244P	unknown	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cul9	A	G	17: 46,821,905 (GRCm39)	Y1857H	probably damaging	Het
Dst	A	G	1: 34,208,964 (GRCm39)	Q1154R	probably damaging	Het
Fgg	G	A	3: 82,921,445 (GRCm39)	G376D	probably damaging	Het
Fmn2	T	C	1: 174,526,356 (GRCm39)	S1392P	probably damaging	Het
Focad	T	C	4: 88,147,615 (GRCm39)	V418A	probably benign	Het
Foxf1	A	T	8: 121,811,430 (GRCm39)	H98L	possibly damaging	Het
Frmd4a	C	CA	2: 4,599,408 (GRCm39)		probably null	Het
Fry	C	A	5: 150,419,847 (GRCm39)	T639K		Het
Fryl	A	G	5: 73,179,843 (GRCm39)		probably null	Het
Gdpd4	A	G	7: 97,607,012 (GRCm39)		probably null	Het
Gpt2	A	G	8: 86,246,145 (GRCm39)	K368R	probably damaging	Het
Hc	A	T	2: 34,881,278 (GRCm39)	V1447E	possibly damaging	Het
Kmt5a	A	G	5: 124,597,982 (GRCm39)	T280A	probably benign	Het
Ly6g5c	A	G	17: 35,330,783 (GRCm39)	M102V	probably benign	Het
Malrd1	A	G	2: 15,700,081 (GRCm39)	S643G	unknown	Het
Mib2	T	C	4: 155,739,267 (GRCm39)	N904S	probably benign	Het
Mug2	G	A	6: 122,056,603 (GRCm39)	V1183I	probably damaging	Het
Nckap1l	C	T	15: 103,390,587 (GRCm39)	T786I	probably damaging	Het
Neb	T	C	2: 52,224,504 (GRCm39)		probably benign	Het
Neu3	A	G	7: 99,463,174 (GRCm39)	V183A	probably benign	Het
Nod1	A	G	6: 54,921,292 (GRCm39)	L342P	probably damaging	Het
Nop58	T	C	1: 59,740,097 (GRCm39)	V163A	probably damaging	Het
Npr3	C	T	15: 11,895,768 (GRCm39)	G293R	probably null	Het
Obscn	T	A	11: 58,952,253 (GRCm39)	K3939*	probably null	Het
Or4d10c	G	A	19: 12,065,370 (GRCm39)	A262V	probably benign	Het
Or4g16	T	A	2: 111,136,793 (GRCm39)	M81K	probably damaging	Het
Or5k16	A	T	16: 58,736,410 (GRCm39)	M198K	possibly damaging	Het
Or5p76	A	G	7: 108,123,058 (GRCm39)	I33T	probably benign	Het
Or8b12b	T	C	9: 37,684,117 (GRCm39)	L54P	probably damaging	Het
P2ry6	A	G	7: 100,587,784 (GRCm39)	Y192H	probably damaging	Het
Paxbp1	A	G	16: 90,819,555 (GRCm39)		probably null	Het
Pign	G	A	1: 105,577,092 (GRCm39)	T197I	probably benign	Het
Pirb	A	T	7: 3,716,817 (GRCm39)		probably null	Het
Pkdrej	C	A	15: 85,703,122 (GRCm39)	R938L	possibly damaging	Het
Psg21	A	G	7: 18,381,128 (GRCm39)	*472R	probably null	Het
Rabgap1l	A	T	1: 160,509,654 (GRCm39)	S474R	probably benign	Het
Rrn3	C	T	16: 13,628,375 (GRCm39)	Q519*	probably null	Het
Seh1l	A	T	18: 67,908,188 (GRCm39)	K37*	probably null	Het
Shprh	A	G	10: 11,040,449 (GRCm39)	S641G	probably benign	Het
Slc4a1	T	G	11: 102,243,403 (GRCm39)	S743R	probably damaging	Het
Snx13	C	T	12: 35,174,534 (GRCm39)	R688*	probably null	Het
Tlr11	C	T	14: 50,599,186 (GRCm39)	Q391*	probably null	Het
Tmbim4	A	G	10: 120,053,471 (GRCm39)	H90R	probably benign	Het
Trav8d-1	T	C	14: 53,016,326 (GRCm39)	S71P	possibly damaging	Het
Trbv5	G	A	6: 41,039,617 (GRCm39)	R74Q	probably benign	Het
Tril	A	G	6: 53,795,921 (GRCm39)	S434P	probably benign	Het
Uhmk1	A	G	1: 170,027,570 (GRCm39)	Y376H	probably damaging	Het
Uty	A	G	Y: 1,170,914 (GRCm39)	C317R	probably damaging	Het
Vmp1	C	T	11: 86,476,225 (GRCm39)	C377Y	probably benign	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wdr41	T	C	13: 95,142,275 (GRCm39)	S150P	probably damaging	Het
Zfp617	T	A	8: 72,685,864 (GRCm39)	Y65N	probably benign	Het
Zfp800	A	C	6: 28,244,089 (GRCm39)	V292G	probably damaging	Het

Other mutations in Lrrc4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0165:Lrrc4b	UTSW	7	44,111,739 (GRCm39)	missense	probably damaging	0.99
R1398:Lrrc4b	UTSW	7	44,111,876 (GRCm39)	missense	probably benign	0.44
R1421:Lrrc4b	UTSW	7	44,110,475 (GRCm39)	missense	probably benign	0.00
R1622:Lrrc4b	UTSW	7	44,111,654 (GRCm39)	unclassified	probably benign
R1681:Lrrc4b	UTSW	7	44,110,601 (GRCm39)	missense	probably damaging	0.99
R1778:Lrrc4b	UTSW	7	44,111,823 (GRCm39)	missense	probably benign
R1967:Lrrc4b	UTSW	7	44,111,654 (GRCm39)	unclassified	probably benign
R1989:Lrrc4b	UTSW	7	44,111,654 (GRCm39)	unclassified	probably benign
R2427:Lrrc4b	UTSW	7	44,111,976 (GRCm39)	missense	probably damaging	1.00
R3820:Lrrc4b	UTSW	7	44,111,982 (GRCm39)	missense	probably damaging	1.00
R3822:Lrrc4b	UTSW	7	44,111,982 (GRCm39)	missense	probably damaging	1.00
R4774:Lrrc4b	UTSW	7	44,111,796 (GRCm39)	splice site	probably null
R5249:Lrrc4b	UTSW	7	44,111,988 (GRCm39)	missense	possibly damaging	0.93
R5268:Lrrc4b	UTSW	7	44,110,787 (GRCm39)	missense	probably damaging	1.00
R6029:Lrrc4b	UTSW	7	44,111,754 (GRCm39)	missense	probably benign	0.00
R6984:Lrrc4b	UTSW	7	44,110,722 (GRCm39)	missense	possibly damaging	0.62
R7003:Lrrc4b	UTSW	7	44,094,580 (GRCm39)	missense	probably damaging	1.00
R7392:Lrrc4b	UTSW	7	44,111,439 (GRCm39)	missense	probably damaging	1.00
R7544:Lrrc4b	UTSW	7	44,111,975 (GRCm39)	missense	probably damaging	1.00
R7596:Lrrc4b	UTSW	7	44,111,310 (GRCm39)	missense	probably damaging	1.00
R7830:Lrrc4b	UTSW	7	44,111,231 (GRCm39)	missense	possibly damaging	0.76
R7836:Lrrc4b	UTSW	7	44,094,316 (GRCm39)	start gained	probably benign
R8116:Lrrc4b	UTSW	7	44,110,533 (GRCm39)	missense	probably damaging	1.00
R8147:Lrrc4b	UTSW	7	44,111,829 (GRCm39)	missense	probably damaging	1.00
R8376:Lrrc4b	UTSW	7	44,112,018 (GRCm39)	missense	probably benign	0.00
R9226:Lrrc4b	UTSW	7	44,112,099 (GRCm39)	missense	possibly damaging	0.85
R9674:Lrrc4b	UTSW	7	44,111,852 (GRCm39)	missense	probably damaging	1.00
Z1176:Lrrc4b	UTSW	7	44,110,736 (GRCm39)	frame shift	probably null
Z1176:Lrrc4b	UTSW	7	44,094,547 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrrc4b	UTSW	7	44,111,335 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrrc4b	UTSW	7	44,094,404 (GRCm39)	missense	unknown
Z1177:Lrrc4b	UTSW	7	44,094,403 (GRCm39)	missense	unknown
Z1177:Lrrc4b	UTSW	7	44,112,041 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACCCCTGGCATTGTAACTGTG -3'
(R):5'- TGTTGCCAGCCGAGTTTGTC -3'

Sequencing Primer
(F):5'- CCCTGGCATTGTAACTGTGATGTG -3'
(R):5'- AGCCGAGTTTGTCACCATG -3'

Posted On

2019-10-24