Mutagenetix > Incidental Mutation

Incidental Mutation 'R7003:Lrrc4b'

544665

Institutional Source

Beutler Lab

Gene Symbol

Lrrc4b

Ensembl Gene

ENSMUSG00000047085

Gene Name

leucine rich repeat containing 4B

Synonyms

NGL-3, Lrig4, Ngl3

MMRRC Submission

045108-MU

Accession Numbers

Essential gene?

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

Stock #

R7003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44091911-44112775 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44094580 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 83 (P83S)

Ref Sequence

ENSEMBL: ENSMUSP00000119374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058667] [ENSMUST00000127790] [ENSMUST00000156093]

AlphaFold

P0C192

Predicted Effect

probably damaging
Transcript: ENSMUST00000058667
AA Change: P83S

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

SMART Domains

Protein: ENSMUSP00000053123
Gene: ENSMUSG00000047085
AA Change: P83S

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 damaging
Transcript: ENSMUST00000127790
AA Change: P83S

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

SMART Domains

Protein: ENSMUSP00000123389
Gene: ENSMUSG00000047085
AA Change: P83S

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 damaging
Transcript: ENSMUST00000156093
AA Change: P83S

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

SMART Domains

Protein: ENSMUSP00000119374
Gene: ENSMUSG00000047085
AA Change: P83S

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

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	A	13: 111,392,490 (GRCm39)	I275N	probably damaging	Het
Actr3b	A	C	5: 26,003,461 (GRCm39)	Y21S	probably damaging	Het
Adam6b	C	T	12: 113,453,662 (GRCm39)	Q160*	probably null	Het
Adgrv1	C	T	13: 81,670,223 (GRCm39)		probably null	Het
Akr1c6	A	G	13: 4,504,514 (GRCm39)	N300D	probably benign	Het
Alox8	T	C	11: 69,082,416 (GRCm39)	D170G	possibly damaging	Het
Amhr2	A	G	15: 102,354,768 (GRCm39)	N40S	probably benign	Het
Ap2a2	A	G	7: 141,209,109 (GRCm39)	N767S	probably benign	Het
Armc3	T	C	2: 19,274,839 (GRCm39)	I358T	probably damaging	Het
Atg2b	A	G	12: 105,620,508 (GRCm39)	S732P	probably benign	Het
Atp12a	A	G	14: 56,610,837 (GRCm39)	Y327C	possibly damaging	Het
Bcr	T	C	10: 74,897,393 (GRCm39)	V179A	probably benign	Het
Cep104	T	C	4: 154,078,018 (GRCm39)	L642P	probably benign	Het
Clspn	T	A	4: 126,486,513 (GRCm39)	S1302R	possibly damaging	Het
Cmip	T	C	8: 118,111,727 (GRCm39)	F153L	probably benign	Het
Cplane1	T	G	15: 8,258,246 (GRCm39)	L2164R	probably damaging	Het
D630039A03Rik	T	C	4: 57,910,521 (GRCm39)	D97G	probably damaging	Het
Dok7	A	T	5: 35,236,899 (GRCm39)	T396S	probably benign	Het
Dsel	C	T	1: 111,788,025 (GRCm39)	V837I	probably benign	Het
Etl4	C	T	2: 20,810,695 (GRCm39)	T926I	probably benign	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Gpr155	A	G	2: 73,173,961 (GRCm39)	I816T	probably damaging	Het
Hpn	C	T	7: 30,810,367 (GRCm39)		probably benign	Het
Inpp5e	A	G	2: 26,287,877 (GRCm39)	S640P	probably benign	Het
Irs3	C	T	5: 137,643,539 (GRCm39)	V82I	probably benign	Het
Kif16b	A	C	2: 142,600,749 (GRCm39)	D461E	possibly damaging	Het
Krba1	A	G	6: 48,390,014 (GRCm39)	T592A	possibly damaging	Het
Lgsn	T	A	1: 31,243,024 (GRCm39)	S369T	possibly damaging	Het
Mplkipl1	A	G	19: 61,164,319 (GRCm39)	S39P	possibly damaging	Het
Neil3	T	C	8: 54,054,001 (GRCm39)	T343A	possibly damaging	Het
Nt5e	A	G	9: 88,246,805 (GRCm39)	Y347C	probably damaging	Het
Or1j1	A	G	2: 36,703,047 (GRCm39)	I19T	possibly damaging	Het
Or2d3b	A	T	7: 106,514,319 (GRCm39)	T305S	probably benign	Het
Or2f2	C	T	6: 42,767,399 (GRCm39)	T142I	probably benign	Het
Or8g26	A	T	9: 39,096,239 (GRCm39)	Y255F	probably benign	Het
P2rx5	T	C	11: 73,058,800 (GRCm39)		probably null	Het
Phtf2	A	G	5: 20,999,399 (GRCm39)	V248A	probably benign	Het
Plekhd1	T	C	12: 80,768,734 (GRCm39)	C406R	possibly damaging	Het
Plod3	T	A	5: 137,018,498 (GRCm39)	N245K	probably damaging	Het
Polr3c	G	T	3: 96,630,954 (GRCm39)	H155Q	possibly damaging	Het
Psap	T	A	10: 60,135,276 (GRCm39)	C317S	probably damaging	Het
Rif1	A	G	2: 51,967,001 (GRCm39)	I97V	probably benign	Het
Rnf123	T	A	9: 107,940,882 (GRCm39)		probably null	Het
Rnf19a	G	A	15: 36,254,650 (GRCm39)	R303*	probably null	Het
Sdk1	G	A	5: 142,082,489 (GRCm39)	V1036I	probably benign	Het
Shc3	T	A	13: 51,620,588 (GRCm39)	Y146F	probably benign	Het
Skint6	A	G	4: 112,963,109 (GRCm39)	Y441H	probably benign	Het
Slc7a12	T	C	3: 14,570,580 (GRCm39)	I173T	probably damaging	Het
Spesp1	A	T	9: 62,189,302 (GRCm39)	S15T	possibly damaging	Het
Tarm1	A	T	7: 3,545,939 (GRCm39)		probably null	Het
Tenm3	T	C	8: 48,693,479 (GRCm39)	Y1817C	probably damaging	Het
Ttc9c	A	T	19: 8,795,904 (GRCm39)	L45Q	probably damaging	Het
Ube3a	C	T	7: 58,926,188 (GRCm39)	T322I	probably damaging	Het
Vac14	T	A	8: 111,439,430 (GRCm39)	V669E	probably damaging	Het
Vmn1r225	A	G	17: 20,723,416 (GRCm39)	M286V	probably null	Het
Zfp658	A	G	7: 43,224,172 (GRCm39)	K816E	possibly damaging	Het
Zfp846	T	C	9: 20,499,188 (GRCm39)	M1T	probably null	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
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
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'- TGAACATTGAGGATGGCGC -3'
(R):5'- AACGTACACAGCCTACATGG -3'

Sequencing Primer
(F):5'- TGCCGCCTGGTAGGATGTC -3'
(R):5'- GCCTACATGGAAATATATCGCAAAG -3'

Posted On

2019-05-13