Mutagenetix > Incidental Mutation

Incidental Mutation 'R7032:Lrrc4c'

546359

Institutional Source

Beutler Lab

Gene Symbol

Lrrc4c

Ensembl Gene

ENSMUSG00000050587

Gene Name

leucine rich repeat containing 4C

Synonyms

6430556C10Rik, netrin g1 ligand, NGL-1

MMRRC Submission

045133-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R7032 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96148514-97462011 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 97459410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 12 (I12T)

Ref Sequence

ENSEMBL: ENSMUSP00000125218 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059049] [ENSMUST00000135431] [ENSMUST00000162807] [ENSMUST00000170144]

AlphaFold

Q8C031

Predicted Effect

probably benign
Transcript: ENSMUST00000059049
AA Change: I12T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131795
Gene: ENSMUSG00000050587
AA Change: I12T

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
LRRNT	46	80	6.95e-4	SMART
LRR	79	98	1.97e2	SMART
LRR_TYP	99	122	7.37e-4	SMART
LRR	123	146	1.08e-1	SMART
LRR_TYP	147	170	1.38e-3	SMART
Blast:LRR	171	195	5e-8	BLAST
LRR	196	217	8.03e1	SMART
LRR_TYP	218	241	2.12e-4	SMART
LRR	242	265	6.97e1	SMART
LRR_TYP	266	289	2.53e-2	SMART
LRRCT	301	352	2.68e-2	SMART
IGc2	366	433	1.22e-7	SMART
transmembrane domain	526	548	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000135431
AA Change: I12T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000130984
Gene: ENSMUSG00000050587
AA Change: I12T

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
LRRNT	46	80	6.95e-4	SMART
LRR	79	98	1.97e2	SMART
LRR_TYP	99	122	7.37e-4	SMART
LRR	123	146	1.08e-1	SMART
LRR_TYP	147	170	1.38e-3	SMART
Blast:LRR	171	195	5e-8	BLAST
LRR	196	217	8.03e1	SMART
LRR_TYP	218	241	2.12e-4	SMART
LRR	242	265	6.97e1	SMART
LRR_TYP	266	289	2.53e-2	SMART
LRRCT	301	352	2.68e-2	SMART
IGc2	366	433	1.22e-7	SMART
transmembrane domain	526	548	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000162807
AA Change: I12T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125218
Gene: ENSMUSG00000050587
AA Change: I12T

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
LRRNT	46	80	6.95e-4	SMART
LRR	79	98	1.97e2	SMART
LRR_TYP	99	122	7.37e-4	SMART
LRR	123	146	1.08e-1	SMART
LRR_TYP	147	170	1.38e-3	SMART
Blast:LRR	171	195	5e-8	BLAST
LRR	196	217	8.03e1	SMART
LRR_TYP	218	241	2.12e-4	SMART
LRR	242	265	6.97e1	SMART
LRR_TYP	266	289	2.53e-2	SMART
LRRCT	301	352	2.68e-2	SMART
IGc2	366	433	1.22e-7	SMART
transmembrane domain	526	548	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170144

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (67/67)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Homozygous mutant mice exhibited an increased mean serum IL-6 response to LPS challenge when compared with controls. No other notable phenotype was detected in a high-througput screen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,120,438 (GRCm39)	D398E	possibly damaging	Het
Adam34	T	C	8: 44,105,303 (GRCm39)	Y114C	probably damaging	Het
Akap9	T	A	5: 4,004,896 (GRCm39)	D156E	probably benign	Het
Apba1	T	A	19: 23,889,825 (GRCm39)	S408T	probably benign	Het
Asb14	C	T	14: 26,625,412 (GRCm39)	H256Y	probably benign	Het
Atf6	A	T	1: 170,627,181 (GRCm39)		probably null	Het
Atp6v1b2	T	A	8: 69,541,548 (GRCm39)	V35E	probably benign	Het
Atp8a2	T	C	14: 60,255,289 (GRCm39)		probably null	Het
Ccdc170	C	A	10: 4,432,597 (GRCm39)	P12Q	unknown	Het
Cdh23	C	T	10: 60,167,567 (GRCm39)	E1810K	probably damaging	Het
Cdo1	A	T	18: 46,853,475 (GRCm39)	F94L	probably damaging	Het
Cfap96	T	G	8: 46,409,474 (GRCm39)	S282R	probably damaging	Het
Chdh	C	T	14: 29,758,809 (GRCm39)	P585S	possibly damaging	Het
Clasp2	A	G	9: 113,683,391 (GRCm39)	N407S	probably benign	Het
Clca3a1	T	A	3: 144,453,329 (GRCm39)	S465C	probably benign	Het
Clip2	C	A	5: 134,551,484 (GRCm39)	V213L	probably damaging	Het
Col6a6	A	G	9: 105,644,707 (GRCm39)	S1194P	probably damaging	Het
Cyp7a1	T	C	4: 6,268,463 (GRCm39)	T421A	possibly damaging	Het
Dhh	C	T	15: 98,791,907 (GRCm39)	G367E	possibly damaging	Het
Dnah5	A	G	15: 28,326,796 (GRCm39)	N2002D	probably damaging	Het
Epn2	T	A	11: 61,437,528 (GRCm39)	N15Y	probably damaging	Het
Evi5	A	C	5: 107,936,147 (GRCm39)	V647G	probably benign	Het
Eya1	T	C	1: 14,353,424 (GRCm39)		probably null	Het
Fam120a	A	G	13: 49,102,589 (GRCm39)	V222A	probably benign	Het
Fastkd5	A	T	2: 130,457,864 (GRCm39)	I242K	possibly damaging	Het
Hnrnpul1	A	G	7: 25,450,319 (GRCm39)	M131T	probably benign	Het
Ice1	T	C	13: 70,744,283 (GRCm39)	N2100S	probably damaging	Het
Ifi205	T	A	1: 173,855,916 (GRCm39)	D38V	possibly damaging	Het
Klhl9	G	A	4: 88,639,843 (GRCm39)	Q133*	probably null	Het
Krt84	T	C	15: 101,436,924 (GRCm39)	E370G	probably benign	Het
Lrriq4	T	A	3: 30,709,850 (GRCm39)	L398*	probably null	Het
Ltf	G	A	9: 110,855,198 (GRCm39)		probably null	Het
Macf1	C	T	4: 123,366,101 (GRCm39)	V1322I	probably benign	Het
Mark2	T	A	19: 7,264,698 (GRCm39)	I112L	probably damaging	Het
Mettl25b	A	G	3: 87,831,649 (GRCm39)		probably null	Het
Mterf2	A	T	10: 84,956,527 (GRCm39)	C32*	probably null	Het
Myo3b	C	T	2: 69,925,608 (GRCm39)	T25I	probably damaging	Het
Nsun7	A	C	5: 66,421,378 (GRCm39)	I115L	probably benign	Het
Olfm3	G	A	3: 114,883,805 (GRCm39)	V36M	probably damaging	Het
Or1p1c	T	C	11: 74,160,428 (GRCm39)	I71T	possibly damaging	Het
Or5d44	T	C	2: 88,141,373 (GRCm39)	T256A	probably benign	Het
Or8b3	A	T	9: 38,314,965 (GRCm39)	Y262F	possibly damaging	Het
Or8g18	A	T	9: 39,148,983 (GRCm39)	S246T	possibly damaging	Het
Pcdhgb8	A	T	18: 37,896,962 (GRCm39)	R677S	probably benign	Het
Prrt4	A	C	6: 29,170,538 (GRCm39)	L638R	possibly damaging	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rab44	T	C	17: 29,359,438 (GRCm39)	F542S	unknown	Het
Rhobtb3	T	A	13: 76,020,513 (GRCm39)	E596D	probably benign	Het
Rpl36	T	C	17: 56,920,944 (GRCm39)	I44T	probably benign	Het
Rptor	A	G	11: 119,737,762 (GRCm39)	I112V	probably benign	Het
Rxfp2	T	C	5: 149,993,813 (GRCm39)	I611T	probably damaging	Het
Slc12a4	G	T	8: 106,675,865 (GRCm39)	N553K	probably damaging	Het
Spata31d1d	T	A	13: 59,876,046 (GRCm39)	R496S	probably benign	Het
Strbp	T	C	2: 37,493,125 (GRCm39)	D387G	possibly damaging	Het
Tas2r107	A	T	6: 131,636,153 (GRCm39)	C299S	possibly damaging	Het
Tbc1d21	A	T	9: 58,274,134 (GRCm39)		probably null	Het
Tdrd12	A	T	7: 35,180,471 (GRCm39)	Y847*	probably null	Het
Tlr2	A	T	3: 83,745,212 (GRCm39)	N290K	probably benign	Het
Tmppe	A	G	9: 114,234,858 (GRCm39)	T386A	probably damaging	Het
Tnks1bp1	C	A	2: 84,892,297 (GRCm39)	H741Q	probably benign	Het
Trpc6	G	A	9: 8,609,951 (GRCm39)	V140M	probably damaging	Het
Ttn	T	C	2: 76,641,932 (GRCm39)	D13427G	probably damaging	Het
Uba7	C	A	9: 107,853,371 (GRCm39)	L106I	possibly damaging	Het
Unc5b	T	G	10: 60,614,587 (GRCm39)	T237P	probably damaging	Het
Vit	A	C	17: 78,932,294 (GRCm39)	D467A	probably damaging	Het
Vmn1r103	T	C	7: 20,243,780 (GRCm39)	Y227C	possibly damaging	Het
Vmn1r77	T	A	7: 11,776,017 (GRCm39)	Y196*	probably null	Het
Zhx3	A	G	2: 160,622,898 (GRCm39)	V423A	probably damaging	Het

Other mutations in Lrrc4c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Lrrc4c	APN	2	97,460,730 (GRCm39)	nonsense	probably null
IGL02095:Lrrc4c	APN	2	97,459,749 (GRCm39)	missense	probably benign	0.05
IGL02165:Lrrc4c	APN	2	97,459,378 (GRCm39)	start codon destroyed	probably null	0.33
IGL02176:Lrrc4c	APN	2	97,460,598 (GRCm39)	missense	probably damaging	0.96
IGL02674:Lrrc4c	APN	2	97,460,120 (GRCm39)	missense	probably damaging	0.99
IGL03082:Lrrc4c	APN	2	97,460,931 (GRCm39)	missense	probably benign	0.05
IGL03303:Lrrc4c	APN	2	97,459,937 (GRCm39)	missense	probably damaging	1.00
R0946:Lrrc4c	UTSW	2	97,459,809 (GRCm39)	missense	probably benign	0.00
R1037:Lrrc4c	UTSW	2	97,460,330 (GRCm39)	missense	probably benign
R1518:Lrrc4c	UTSW	2	97,460,921 (GRCm39)	missense	probably benign
R1559:Lrrc4c	UTSW	2	97,461,117 (GRCm39)	missense	probably benign	0.00
R2192:Lrrc4c	UTSW	2	97,459,657 (GRCm39)	missense	possibly damaging	0.50
R2213:Lrrc4c	UTSW	2	97,460,816 (GRCm39)	missense	probably benign	0.29
R2279:Lrrc4c	UTSW	2	97,460,850 (GRCm39)	missense	possibly damaging	0.86
R3552:Lrrc4c	UTSW	2	97,460,306 (GRCm39)	missense	probably damaging	1.00
R3840:Lrrc4c	UTSW	2	97,460,537 (GRCm39)	missense	probably damaging	0.98
R3841:Lrrc4c	UTSW	2	97,460,537 (GRCm39)	missense	probably damaging	0.98
R4606:Lrrc4c	UTSW	2	97,460,658 (GRCm39)	missense	probably benign	0.22
R4938:Lrrc4c	UTSW	2	97,459,646 (GRCm39)	missense	probably damaging	1.00
R4946:Lrrc4c	UTSW	2	97,460,834 (GRCm39)	missense	probably benign	0.00
R5323:Lrrc4c	UTSW	2	97,460,498 (GRCm39)	missense	probably damaging	1.00
R6014:Lrrc4c	UTSW	2	97,459,557 (GRCm39)	splice site	probably null
R6297:Lrrc4c	UTSW	2	97,459,964 (GRCm39)	missense	probably damaging	0.99
R6376:Lrrc4c	UTSW	2	97,459,391 (GRCm39)	missense	probably benign	0.03
R7419:Lrrc4c	UTSW	2	97,460,106 (GRCm39)	missense	probably benign	0.07
R7699:Lrrc4c	UTSW	2	97,461,024 (GRCm39)	missense	possibly damaging	0.81
R7700:Lrrc4c	UTSW	2	97,461,024 (GRCm39)	missense	possibly damaging	0.81
R7723:Lrrc4c	UTSW	2	97,460,999 (GRCm39)	missense	possibly damaging	0.91
R7736:Lrrc4c	UTSW	2	97,460,705 (GRCm39)	missense	probably benign	0.02
R7843:Lrrc4c	UTSW	2	97,460,558 (GRCm39)	missense	probably benign	0.19
R7880:Lrrc4c	UTSW	2	97,461,143 (GRCm39)	missense	probably benign	0.08
R8008:Lrrc4c	UTSW	2	97,460,594 (GRCm39)	missense	possibly damaging	0.88
R8479:Lrrc4c	UTSW	2	97,459,977 (GRCm39)	missense	probably damaging	1.00
R8802:Lrrc4c	UTSW	2	97,460,603 (GRCm39)	missense	possibly damaging	0.83
R8821:Lrrc4c	UTSW	2	97,460,040 (GRCm39)	missense	possibly damaging	0.88
R8906:Lrrc4c	UTSW	2	97,460,393 (GRCm39)	missense	probably benign	0.00
R8933:Lrrc4c	UTSW	2	97,459,826 (GRCm39)	missense	probably benign	0.36
R8974:Lrrc4c	UTSW	2	97,459,992 (GRCm39)	missense	probably damaging	1.00
R9115:Lrrc4c	UTSW	2	97,459,686 (GRCm39)	missense	probably benign	0.00
R9266:Lrrc4c	UTSW	2	97,459,853 (GRCm39)	missense	probably benign	0.26
R9311:Lrrc4c	UTSW	2	97,461,080 (GRCm39)	missense	possibly damaging	0.90
Z1177:Lrrc4c	UTSW	2	97,460,828 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TATTGGCAACCCACAGACAG -3'
(R):5'- ATCCGGAACTTCACGAAGG -3'

Sequencing Primer
(F):5'- CCATGAAGGCTATCATATGTTTTGAC -3'
(R):5'- CGGAACTTCACGAAGGTTTTTCCG -3'

Posted On

2019-05-13