Mutagenetix > Incidental Mutation

Incidental Mutation 'R9674:Lrrc4b'

728228

Institutional Source

Beutler Lab

Gene Symbol

Lrrc4b

Ensembl Gene

ENSMUSG00000047085

Gene Name

leucine rich repeat containing 4B

Synonyms

NGL-3, Lrig4, Ngl3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R9674 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44091911-44112775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44111852 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 575 (I575F)

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 damaging
Transcript: ENSMUST00000058667
AA Change: I575F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000053123
Gene: ENSMUSG00000047085
AA Change: I575F

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: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	T	3: 59,914,472 (GRCm39)	D25V	possibly damaging	Het
Abca16	A	G	7: 120,074,668 (GRCm39)		probably null	Het
Adam9	T	A	8: 25,441,014 (GRCm39)	T820S	possibly damaging	Het
Adamts6	G	A	13: 104,563,448 (GRCm39)	V647I	probably benign	Het
Afap1l2	T	A	19: 56,922,195 (GRCm39)	R14S	probably damaging	Het
Aff3	C	T	1: 38,248,864 (GRCm39)	V748I	probably damaging	Het
Aldh5a1	T	C	13: 25,110,038 (GRCm39)	I166V	probably benign	Het
Alx4	G	T	2: 93,507,858 (GRCm39)	L384F	probably damaging	Het
Ank3	T	A	10: 69,824,549 (GRCm39)	S1073T		Het
Ankrd50	A	G	3: 38,506,574 (GRCm39)	C275R	unknown	Het
Apol11a	G	A	15: 77,401,347 (GRCm39)	S278N	possibly damaging	Het
Astn2	T	A	4: 65,460,963 (GRCm39)	D1057V	probably damaging	Het
Atp11a	T	C	8: 12,877,525 (GRCm39)	V317A	probably benign	Het
Cacna1i	A	G	15: 80,264,629 (GRCm39)	T1486A	probably damaging	Het
Cadps	A	G	14: 12,454,291 (GRCm38)	F1076L	probably damaging	Het
Cct6b	T	C	11: 82,645,838 (GRCm39)	T154A	probably damaging	Het
Cfap69	A	G	5: 5,697,021 (GRCm39)	F92L	possibly damaging	Het
Cyp19a1	A	T	9: 54,074,141 (GRCm39)	I471K	possibly damaging	Het
Cyp26a1	T	A	19: 37,689,726 (GRCm39)	M474K	probably damaging	Het
Cyp4a12a	T	C	4: 115,186,156 (GRCm39)	S439P	probably benign	Het
Cyp4f37	T	A	17: 32,846,841 (GRCm39)		probably null	Het
Dgki	A	G	6: 37,027,157 (GRCm39)	Y395H	probably damaging	Het
Dlg1	T	C	16: 31,610,580 (GRCm39)	V287A	probably damaging	Het
Dlx2	C	T	2: 71,376,496 (GRCm39)	G81S	possibly damaging	Het
Dnah8	G	T	17: 30,998,112 (GRCm39)	K3448N	possibly damaging	Het
Dnhd1	C	T	7: 105,363,429 (GRCm39)	P3997L	probably damaging	Het
Drosha	C	G	15: 12,890,170 (GRCm39)	D910E	probably damaging	Het
Dscam	A	G	16: 96,442,036 (GRCm39)	V1597A	probably benign	Het
Eif1b	A	G	9: 120,323,265 (GRCm39)	K42E	possibly damaging	Het
Enpp2	C	A	15: 54,816,135 (GRCm39)	G10W	unknown	Het
Exd2	A	G	12: 80,536,372 (GRCm39)	N334S	probably benign	Het
Glt6d1	T	A	2: 25,684,382 (GRCm39)	N208I	probably benign	Het
Grin2a	T	A	16: 9,471,265 (GRCm39)	K668*	probably null	Het
Grm1	A	G	10: 10,609,028 (GRCm39)	V535A	possibly damaging	Het
H2ac7	A	G	13: 23,758,862 (GRCm39)	D73G	possibly damaging	Het
Hey2	A	T	10: 30,710,413 (GRCm39)	D113E	probably benign	Het
Ighm	T	A	12: 113,385,139 (GRCm39)	I274F		Het
Ighv1-58	G	T	12: 115,275,847 (GRCm39)	T97K	probably damaging	Het
Igkv6-20	T	C	6: 70,312,852 (GRCm39)	H107R	possibly damaging	Het
Il15	C	T	8: 83,069,938 (GRCm39)	G42D	probably damaging	Het
Jakmip2	T	A	18: 43,704,961 (GRCm39)	M347L	probably benign	Het
Kcnh7	T	C	2: 62,595,060 (GRCm39)	Y670C	probably damaging	Het
Ktn1	G	C	14: 47,922,213 (GRCm39)	C458S	possibly damaging	Het
Lama5	C	T	2: 179,840,267 (GRCm39)		probably null	Het
Lce1i	T	C	3: 92,685,113 (GRCm39)	Q21R	unknown	Het
Lmo7	A	T	14: 102,078,340 (GRCm39)	E81D	probably damaging	Het
Mmrn1	C	T	6: 60,948,072 (GRCm39)	Q272*	probably null	Het
Nbea	A	T	3: 55,966,183 (GRCm39)	D426E	probably damaging	Het
Neto1	G	A	18: 86,491,827 (GRCm39)	V243M	probably damaging	Het
Notch1	G	A	2: 26,361,308 (GRCm39)	R1061C	probably damaging	Het
Or5g25	T	G	2: 85,478,593 (GRCm39)	Q24P	possibly damaging	Het
Or5p67	A	T	7: 107,922,271 (GRCm39)	I204N	probably benign	Het
Osgin1	A	G	8: 120,172,499 (GRCm39)	D431G	possibly damaging	Het
Ppp4r1	A	G	17: 66,140,127 (GRCm39)	D675G	probably damaging	Het
Pramel25	T	A	4: 143,520,162 (GRCm39)	H135Q	probably benign	Het
Prkdc	T	A	16: 15,533,819 (GRCm39)	H1552Q	probably damaging	Het
Rbfox1	T	C	16: 7,170,885 (GRCm39)	F282L	probably benign	Het
Ret	T	C	6: 118,130,830 (GRCm39)	D1111G	probably damaging	Het
Rnf224	A	T	2: 25,126,330 (GRCm39)	Y8N	probably benign	Het
Rtl1	G	T	12: 109,559,024 (GRCm39)	H938Q	possibly damaging	Het
Sec23ip	T	G	7: 128,380,187 (GRCm39)	D867E	probably damaging	Het
Sema3f	A	T	9: 107,566,947 (GRCm39)	L194Q	possibly damaging	Het
Sfmbt1	C	T	14: 30,495,851 (GRCm39)	R45C	probably damaging	Het
Slc7a4	T	C	16: 17,392,208 (GRCm39)	I409V	probably benign	Het
Slco6c1	T	A	1: 97,047,565 (GRCm39)	D246V	probably damaging	Het
Smap2	C	T	4: 120,826,745 (GRCm39)	M426I	probably benign	Het
Spata31h1	C	T	10: 82,120,030 (GRCm39)	V4327I	possibly damaging	Het
Tmem184b	T	A	15: 79,249,524 (GRCm39)	T315S	probably benign	Het
Trpm4	A	T	7: 44,982,811 (GRCm39)	D30E	possibly damaging	Het
Ttc7b	T	A	12: 100,432,553 (GRCm39)	K154N	probably benign	Het
Vps13b	T	A	15: 35,607,380 (GRCm39)	H1104Q	probably damaging	Het
Wnk4	T	A	11: 101,166,874 (GRCm39)	L1010Q	unknown	Het
Xpo6	T	A	7: 125,723,700 (GRCm39)	H537L	probably benign	Het
Xrn1	A	T	9: 95,855,645 (GRCm39)	Y314F	probably damaging	Het
Xrn1	A	T	9: 95,855,647 (GRCm39)	I315F	possibly damaging	Het
Zap70	T	C	1: 36,810,150 (GRCm39)	Y87H	probably benign	Het
Zbtb4	T	C	11: 69,669,973 (GRCm39)	Y899H	probably damaging	Het
Zcchc7	T	A	4: 44,931,418 (GRCm39)	H202Q	possibly damaging	Het
Zeb2	A	G	2: 44,891,725 (GRCm39)	Y276H	probably damaging	Het
Zfp867	T	G	11: 59,355,850 (GRCm39)	Q68P	probably benign	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
R7582:Lrrc4b	UTSW	7	44,111,234 (GRCm39)	missense	probably benign	0.00
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
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'- TACACCTACTTCACCACGGTG -3'
(R):5'- TTGAAGAGCAGAGGTTCGTG -3'

Sequencing Primer
(F):5'- TACTGAGAAGGAGCCCCC -3'
(R):5'- CCGTAGTGCGCCTTGAAG -3'

Posted On

2022-10-06