Mutagenetix > Incidental Mutation

Incidental Mutation 'R7488:Lrrc23'

580333

Institutional Source

Beutler Lab

Gene Symbol

Lrrc23

Ensembl Gene

ENSMUSG00000030125

Gene Name

leucine rich repeat containing 23

Synonyms

Lrpb7, 4921537K05Rik

MMRRC Submission

045562-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7488 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

124746826-124756690 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 124756075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 6 (D6V)

Ref Sequence

ENSEMBL: ENSMUSP00000108094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032218] [ENSMUST00000112475] [ENSMUST00000128697] [ENSMUST00000147669]

AlphaFold

O35125

Predicted Effect

unknown
Transcript: ENSMUST00000032218
AA Change: D6V

SMART Domains

Protein: ENSMUSP00000032218
Gene: ENSMUSG00000030125
AA Change: D6V

Domain	Start	End	E-Value	Type
coiled coil region	12	40	N/A	INTRINSIC
Pfam:LRR_1	89	109	1.2e-2	PFAM
LRR	196	217	1.33e2	SMART
LRR	218	239	4.97e0	SMART
LRR	241	263	3.27e1	SMART
low complexity region	305	314	N/A	INTRINSIC
low complexity region	323	332	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000112475
AA Change: D6V

SMART Domains

Protein: ENSMUSP00000108094
Gene: ENSMUSG00000030125
AA Change: D6V

Domain	Start	End	E-Value	Type
coiled coil region	12	40	N/A	INTRINSIC
internal_repeat_1	90	182	7.1e-5	PROSPERO
LRR	196	217	1.33e2	SMART
LRR	218	239	4.97e0	SMART
LRR	241	263	3.27e1	SMART
low complexity region	305	314	N/A	INTRINSIC
low complexity region	323	332	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000128697
AA Change: D6V

SMART Domains

Protein: ENSMUSP00000122362
Gene: ENSMUSG00000030125
AA Change: D6V

Domain	Start	End	E-Value	Type
coiled coil region	12	40	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000147669
AA Change: D6V

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,197,179 (GRCm39)	F251I	possibly damaging	Het
Abcb11	C	T	2: 69,108,146 (GRCm39)	G717D	probably benign	Het
Abcc1	G	A	16: 14,207,763 (GRCm39)	W47*	probably null	Het
Ahnak2	A	G	12: 112,748,641 (GRCm39)	I402T		Het
Ankfy1	G	A	11: 72,650,769 (GRCm39)	R984Q	probably benign	Het
Apaf1	A	G	10: 90,890,242 (GRCm39)	I598T	probably benign	Het
Apobec1	G	T	6: 122,558,521 (GRCm39)	P78Q	possibly damaging	Het
Asap1	A	T	15: 63,991,974 (GRCm39)	I737N	probably benign	Het
Aste1	T	A	9: 105,279,904 (GRCm39)		probably null	Het
Bcr	A	C	10: 74,996,162 (GRCm39)	D902A	possibly damaging	Het
Bicra	T	C	7: 15,723,367 (GRCm39)		probably null	Het
Ccdc27	T	C	4: 154,117,424 (GRCm39)	T508A	probably benign	Het
Ccz1	T	A	5: 143,928,401 (GRCm39)	N383I	probably damaging	Het
Cdh24	T	C	14: 54,869,637 (GRCm39)	D760G	possibly damaging	Het
Cdhr2	T	C	13: 54,865,728 (GRCm39)	I242T	probably benign	Het
Cdk4	T	A	10: 126,900,106 (GRCm39)	M1K	probably null	Het
Cfap96	A	G	8: 46,415,331 (GRCm39)	V225A	probably benign	Het
Cntn5	A	T	9: 9,970,570 (GRCm39)	S302T	probably damaging	Het
Col25a1	G	T	3: 130,378,350 (GRCm39)	G601V	probably damaging	Het
Cpb1	A	G	3: 20,324,488 (GRCm39)	L62P	possibly damaging	Het
Cpne1	T	C	2: 155,919,857 (GRCm39)	T264A	probably benign	Het
Cpvl	T	A	6: 53,924,727 (GRCm39)	N198Y	probably damaging	Het
Cyp2u1	A	C	3: 131,091,596 (GRCm39)	L308R	probably damaging	Het
Ddx54	G	T	5: 120,762,789 (GRCm39)	V637L	probably benign	Het
Dglucy	C	A	12: 100,823,310 (GRCm39)	P472T	possibly damaging	Het
Dync2h1	A	G	9: 7,124,855 (GRCm39)	Y2006H	probably benign	Het
Eif5b	T	C	1: 38,089,387 (GRCm39)	M1121T	possibly damaging	Het
Emsy	A	G	7: 98,264,762 (GRCm39)	V545A	possibly damaging	Het
Ezh1	G	A	11: 101,091,726 (GRCm39)	L480F	possibly damaging	Het
Fbln2	T	A	6: 91,242,845 (GRCm39)		probably null	Het
Gja10	T	A	4: 32,602,058 (GRCm39)	K109*	probably null	Het
Gm28042	A	G	2: 119,870,438 (GRCm39)	N762S	probably benign	Het
Gnb1l	C	A	16: 18,359,220 (GRCm39)	P7Q	possibly damaging	Het
Grem2	A	T	1: 174,664,685 (GRCm39)	S55T	probably damaging	Het
Gsn	A	T	2: 35,186,433 (GRCm39)	N393I	possibly damaging	Het
H6pd	T	A	4: 150,067,093 (GRCm39)	Q439L	probably benign	Het
Hmcn2	G	A	2: 31,310,842 (GRCm39)	G3362E	probably damaging	Het
Ighv11-2	T	C	12: 114,011,978 (GRCm39)	Y79C	probably damaging	Het
Ikzf2	T	A	1: 69,578,544 (GRCm39)	N322Y	probably benign	Het
Il25	A	G	14: 55,170,459 (GRCm39)	I11V	probably benign	Het
Jak2	C	T	19: 29,275,783 (GRCm39)	T741I	probably damaging	Het
Kdm3b	T	C	18: 34,957,934 (GRCm39)	S1300P	probably damaging	Het
Ldb3	T	A	14: 34,289,402 (GRCm39)	Q268L	probably damaging	Het
Megf10	A	G	18: 57,324,187 (GRCm39)	Y76C	probably damaging	Het
Neb	A	T	2: 52,110,233 (GRCm39)	M205K	probably benign	Het
Or12e8	T	C	2: 87,188,597 (GRCm39)	S270P	probably damaging	Het
Or6c2b	G	T	10: 128,947,605 (GRCm39)	Q230K	probably benign	Het
Or8a1	A	G	9: 37,641,983 (GRCm39)	S99P	probably damaging	Het
Pcnx3	G	A	19: 5,717,487 (GRCm39)	R1541W	possibly damaging	Het
Pdgfd	A	G	9: 6,359,739 (GRCm39)	Y270C	probably damaging	Het
Pds5b	A	T	5: 150,646,802 (GRCm39)	D197V	probably damaging	Het
Pknox2	A	G	9: 36,866,127 (GRCm39)	M30T	probably benign	Het
Plekhg1	A	T	10: 3,907,491 (GRCm39)	S858C		Het
Por	A	T	5: 135,762,498 (GRCm39)	E400D	probably benign	Het
Pou2af2	C	A	9: 51,201,360 (GRCm39)	R232L	probably damaging	Het
Psip1	A	G	4: 83,391,275 (GRCm39)		probably null	Het
Retreg1	G	T	15: 25,889,628 (GRCm39)	V111F		Het
Rock1	G	A	18: 10,122,762 (GRCm39)	A353V	probably damaging	Het
Rpl6	C	G	5: 121,346,591 (GRCm39)	R231G	probably benign	Het
Scn7a	C	T	2: 66,587,574 (GRCm39)	R43H	probably benign	Het
Scnn1g	T	A	7: 121,362,657 (GRCm39)	N488K	probably benign	Het
Slc24a1	A	G	9: 64,831,764 (GRCm39)	V1111A	probably benign	Het
Snapc1	C	T	12: 74,029,285 (GRCm39)	S356L	probably benign	Het
Spata31e2	T	C	1: 26,723,039 (GRCm39)	T714A	possibly damaging	Het
Ssbp2	T	A	13: 91,823,209 (GRCm39)	N201K	probably damaging	Het
Tfdp2	A	G	9: 96,179,695 (GRCm39)	N43D	probably damaging	Het
Tmprss11d	A	G	5: 86,474,309 (GRCm39)	I216T	probably damaging	Het
Tmprss4	A	G	9: 45,086,853 (GRCm39)	S303P	probably benign	Het
Tnpo2	A	G	8: 85,781,663 (GRCm39)	E815G	probably benign	Het
Trav6-1	A	C	14: 52,875,972 (GRCm39)	M1L	possibly damaging	Het
Trpm3	T	C	19: 22,955,937 (GRCm39)	V1133A	probably damaging	Het
Trpv1	C	T	11: 73,129,355 (GRCm39)	P91S	probably benign	Het
Trpv2	T	C	11: 62,480,576 (GRCm39)	Y338H	probably damaging	Het
Txnip	T	C	3: 96,467,539 (GRCm39)	M336T	probably benign	Het
Vmn1r61	A	T	7: 5,613,767 (GRCm39)	H182Q	possibly damaging	Het
Vmn2r105	A	G	17: 20,429,045 (GRCm39)	V677A	probably damaging	Het
Wwp1	G	T	4: 19,627,660 (GRCm39)	T745K	probably damaging	Het
Xkr5	C	A	8: 18,983,608 (GRCm39)	E645*	probably null	Het
Zfp451	C	T	1: 33,818,221 (GRCm39)	R303H	probably benign	Het
Zyg11b	T	C	4: 108,123,655 (GRCm39)	H104R	possibly damaging	Het

Other mutations in Lrrc23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00336:Lrrc23	APN	6	124,755,889 (GRCm39)	missense	probably damaging	1.00
IGL01123:Lrrc23	APN	6	124,755,782 (GRCm39)	missense	probably benign	0.04
IGL02429:Lrrc23	APN	6	124,755,130 (GRCm39)	missense	probably damaging	0.99
IGL02892:Lrrc23	APN	6	124,751,399 (GRCm39)	missense	probably benign	0.03
R0440:Lrrc23	UTSW	6	124,747,667 (GRCm39)	missense	probably benign	0.00
R0637:Lrrc23	UTSW	6	124,755,321 (GRCm39)	unclassified	probably benign
R1055:Lrrc23	UTSW	6	124,755,114 (GRCm39)	missense	probably damaging	1.00
R1125:Lrrc23	UTSW	6	124,753,145 (GRCm39)	missense	probably benign	0.06
R1531:Lrrc23	UTSW	6	124,753,077 (GRCm39)	missense	possibly damaging	0.91
R4156:Lrrc23	UTSW	6	124,747,804 (GRCm39)	nonsense	probably null
R4838:Lrrc23	UTSW	6	124,755,152 (GRCm39)	missense	probably benign	0.16
R5296:Lrrc23	UTSW	6	124,751,445 (GRCm39)	missense	probably damaging	0.98
R7211:Lrrc23	UTSW	6	124,755,152 (GRCm39)	missense	probably benign	0.16
R7426:Lrrc23	UTSW	6	124,756,088 (GRCm39)	missense	unknown
R7583:Lrrc23	UTSW	6	124,756,541 (GRCm39)	start gained	probably benign
R7829:Lrrc23	UTSW	6	124,747,711 (GRCm39)	missense	probably benign	0.00
R8289:Lrrc23	UTSW	6	124,755,267 (GRCm39)	missense	probably damaging	1.00
R8726:Lrrc23	UTSW	6	124,753,043 (GRCm39)	missense	probably benign	0.03
R9196:Lrrc23	UTSW	6	124,755,189 (GRCm39)	missense	possibly damaging	0.77
R9384:Lrrc23	UTSW	6	124,755,189 (GRCm39)	missense	possibly damaging	0.77

Predicted Primers

PCR Primer
(F):5'- GAGAGCCCTTCCTTCATCATGG -3'
(R):5'- ATGCACAAGTGGGAGTTCAG -3'

Sequencing Primer
(F):5'- TCATGGCCTCCGTGATGG -3'
(R):5'- TTCAGAGGAGACAGACTGTATAGG -3'

Posted On

2019-10-07