Mutagenetix > Incidental Mutation

Incidental Mutation 'R4944:Lrrc24'

383371

Institutional Source

Beutler Lab

Gene Symbol

Lrrc24

Ensembl Gene

ENSMUSG00000033707

Gene Name

leucine rich repeat containing 24

Synonyms

MMRRC Submission

042541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R4944 (G1)

Quality Score

221

Status

Validated

Chromosome

Chromosomal Location

76599476-76606373 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76602546 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 113 (L113P)

Ref Sequence

ENSEMBL: ENSMUSP00000061906 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036247] [ENSMUST00000036423] [ENSMUST00000049956] [ENSMUST00000127208] [ENSMUST00000136840] [ENSMUST00000137649] [ENSMUST00000142610] [ENSMUST00000228990] [ENSMUST00000155735]

AlphaFold

Q8BHA1

Predicted Effect

probably benign
Transcript: ENSMUST00000036247

SMART Domains

Protein: ENSMUSP00000039910
Gene: ENSMUSG00000116138

Domain	Start	End	E-Value	Type
Pfam:DUF4505	31	209	5.4e-84	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036423

SMART Domains

Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000049956
AA Change: L113P

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

SMART Domains

Protein: ENSMUSP00000061906
Gene: ENSMUSG00000033707
AA Change: L113P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
LRRNT	30	62	1.04e-2	SMART
LRR	61	80	3.18e2	SMART
LRR_TYP	81	104	2.99e-4	SMART
LRR	106	128	3.87e1	SMART
LRR_TYP	129	152	8.22e-2	SMART
LRR_TYP	153	176	5.06e-2	SMART
LRR	177	200	2.02e-1	SMART
LRRCT	212	266	2e-10	SMART
IGc2	280	360	1.02e-9	SMART
transmembrane domain	409	431	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127208

SMART Domains

Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136840

SMART Domains

Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137649

SMART Domains

Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146855

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146725

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154531

Predicted Effect

probably benign
Transcript: ENSMUST00000142610

SMART Domains

Protein: ENSMUSP00000117780
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230372

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231059

Predicted Effect

probably benign
Transcript: ENSMUST00000228990

Predicted Effect

probably benign
Transcript: ENSMUST00000155735

SMART Domains

Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728

Domain	Start	End	E-Value	Type
low complexity region	23	35	N/A	INTRINSIC
low complexity region	55	66	N/A	INTRINSIC
SCOP:d1a4ya_	222	413	2e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229507

Meta Mutation Damage Score

0.9683

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	G	A	5: 8,984,327 (GRCm39)		probably null	Het
Angptl7	C	G	4: 148,584,534 (GRCm39)	Q71H	probably damaging	Het
Arhgap30	A	T	1: 171,229,822 (GRCm39)	N176Y	probably damaging	Het
Armc9	T	A	1: 86,202,256 (GRCm39)	S805T	probably damaging	Het
Atxn1	T	G	13: 45,720,407 (GRCm39)	H496P	probably damaging	Het
Cabin1	C	T	10: 75,557,197 (GRCm39)	G1147D	probably damaging	Het
Cabin1	A	G	10: 75,575,255 (GRCm39)	S597P	probably damaging	Het
Catsperd	T	C	17: 56,969,744 (GRCm39)	S613P	probably damaging	Het
Cdh2	A	G	18: 16,783,466 (GRCm39)	Y88H	probably damaging	Het
Cntn1	C	A	15: 92,126,549 (GRCm39)	P47Q	probably damaging	Het
Col11a2	T	C	17: 34,261,164 (GRCm39)	L38P	possibly damaging	Het
Col5a2	T	G	1: 45,415,855 (GRCm39)	I1431L	possibly damaging	Het
Csmd1	C	T	8: 16,048,772 (GRCm39)	G2310D	probably damaging	Het
Dhcr7	T	A	7: 143,391,528 (GRCm39)	I39N	probably damaging	Het
Dnajc13	C	T	9: 104,044,586 (GRCm39)		probably benign	Het
Drgx	G	T	14: 32,330,206 (GRCm39)	Q136H	probably damaging	Het
Folr2	T	C	7: 101,489,497 (GRCm39)		probably null	Het
Galnt11	T	C	5: 25,470,336 (GRCm39)	I595T	probably damaging	Het
Gp5	G	A	16: 30,128,326 (GRCm39)	A116V	possibly damaging	Het
Gpn3	T	C	5: 122,520,303 (GRCm39)		probably benign	Het
Gprin3	T	C	6: 59,331,644 (GRCm39)	N221S	probably benign	Het
Hfm1	T	C	5: 107,022,079 (GRCm39)	E989G	possibly damaging	Het
Ints1	T	C	5: 139,743,847 (GRCm39)		probably null	Het
Josd2	T	C	7: 44,120,592 (GRCm39)	S110P	probably damaging	Het
Kat14	C	A	2: 144,217,873 (GRCm39)	T123K	probably damaging	Het
Lamtor1	C	T	7: 101,558,971 (GRCm39)	T48I	probably damaging	Het
Lrrc37	T	C	11: 103,504,286 (GRCm39)	T2561A	possibly damaging	Het
Mog	T	C	17: 37,331,433 (GRCm39)	E89G	probably damaging	Het
Mon2	A	G	10: 122,874,364 (GRCm39)		probably null	Het
Mtx1	T	C	3: 89,121,205 (GRCm39)	Y143C	probably benign	Het
Nacad	T	C	11: 6,548,507 (GRCm39)	E1409G	possibly damaging	Het
Ndst3	T	C	3: 123,400,676 (GRCm39)	H410R	probably damaging	Het
Nkx6-2	T	C	7: 139,161,486 (GRCm39)	E233G	possibly damaging	Het
Oas1h	A	G	5: 121,000,846 (GRCm39)	E152G	probably damaging	Het
Or8g22	A	G	9: 38,958,158 (GRCm39)	S186P	probably damaging	Het
Ovgp1	T	C	3: 105,887,269 (GRCm39)	F222L	possibly damaging	Het
Pkhd1	T	C	1: 20,358,429 (GRCm39)	S2716G	probably null	Het
Pla2g4e	T	C	2: 120,001,718 (GRCm39)	T644A	probably benign	Het
Plxnd1	A	G	6: 115,932,726 (GRCm39)	I1918T	probably damaging	Het
Psmg1	A	T	16: 95,790,812 (GRCm39)		probably benign	Het
Ptprd	G	A	4: 76,047,136 (GRCm39)	R364C	probably damaging	Het
Rgs22	T	C	15: 36,026,088 (GRCm39)	I945V	possibly damaging	Het
Rgs7bp	T	C	13: 105,088,072 (GRCm39)	N234S	probably benign	Het
Rrp7a	T	C	15: 83,004,010 (GRCm39)		probably benign	Het
Scg2	T	A	1: 79,414,193 (GRCm39)	R177*	probably null	Het
Sema4c	C	A	1: 36,589,392 (GRCm39)	C578F	probably damaging	Het
Slc1a5	T	A	7: 16,531,668 (GRCm39)		probably benign	Het
Slc5a3	A	G	16: 91,875,571 (GRCm39)	T543A	possibly damaging	Het
Slx4ip	T	A	2: 136,888,687 (GRCm39)	F123I	probably benign	Het
Smtn	C	T	11: 3,472,916 (GRCm39)	R737H	probably damaging	Het
Stox2	A	G	8: 47,866,300 (GRCm39)	I14T	possibly damaging	Het
Stradb	T	C	1: 59,019,599 (GRCm39)	F43L	probably benign	Het
Szt2	T	C	4: 118,245,866 (GRCm39)	D1029G	probably benign	Het
Taar6	T	C	10: 23,860,613 (GRCm39)	Y311C	probably damaging	Het
Tcea3	A	T	4: 135,995,404 (GRCm39)	N249I	probably damaging	Het
Tecta	A	G	9: 42,241,573 (GRCm39)	M2134T	probably benign	Het
Tg	G	A	15: 66,636,186 (GRCm39)	G591D	probably damaging	Het
Tm4sf20	T	A	1: 82,746,084 (GRCm39)	I19F	probably benign	Het
Top2a	T	C	11: 98,888,676 (GRCm39)	K1262E	probably benign	Het
Ube2r2	A	G	4: 41,190,742 (GRCm39)		probably benign	Het
Usp29	T	C	7: 6,964,927 (GRCm39)	S257P	possibly damaging	Het
Usp40	T	C	1: 87,880,077 (GRCm39)	N1038S	probably benign	Het
Utp25	A	T	1: 192,797,262 (GRCm39)	M530K	probably damaging	Het
Vmn1r121	C	T	7: 20,831,538 (GRCm39)	E301K	probably benign	Het
Vmn2r49	T	A	7: 9,722,959 (GRCm39)	H105L	probably benign	Het
Zgrf1	C	T	3: 127,355,517 (GRCm39)	Q248*	probably null	Het

Other mutations in Lrrc24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Lrrc24	APN	15	76,602,263 (GRCm39)	missense	probably damaging	1.00
IGL01556:Lrrc24	APN	15	76,606,775 (GRCm39)	missense	probably damaging	0.99
IGL01940:Lrrc24	APN	15	76,600,257 (GRCm39)	missense	probably damaging	1.00
IGL01966:Lrrc24	APN	15	76,602,511 (GRCm39)	missense	probably benign	0.22
IGL02315:Lrrc24	APN	15	76,602,506 (GRCm39)	missense	probably damaging	1.00
IGL03062:Lrrc24	APN	15	76,602,504 (GRCm39)	missense	probably benign
R0240:Lrrc24	UTSW	15	76,607,409 (GRCm39)	missense	probably damaging	1.00
R0240:Lrrc24	UTSW	15	76,607,409 (GRCm39)	missense	probably damaging	1.00
R0365:Lrrc24	UTSW	15	76,599,984 (GRCm39)	missense	probably benign	0.14
R1430:Lrrc24	UTSW	15	76,607,992 (GRCm39)	splice site	probably null
R1789:Lrrc24	UTSW	15	76,606,778 (GRCm39)	missense	probably benign	0.02
R2131:Lrrc24	UTSW	15	76,599,781 (GRCm39)	missense	possibly damaging	0.92
R2202:Lrrc24	UTSW	15	76,607,111 (GRCm39)	missense	probably damaging	1.00
R4247:Lrrc24	UTSW	15	76,602,176 (GRCm39)	missense	possibly damaging	0.89
R4585:Lrrc24	UTSW	15	76,607,889 (GRCm39)	missense	probably damaging	1.00
R4976:Lrrc24	UTSW	15	76,600,200 (GRCm39)	missense	probably benign	0.00
R5119:Lrrc24	UTSW	15	76,600,200 (GRCm39)	missense	probably benign	0.00
R5445:Lrrc24	UTSW	15	76,600,306 (GRCm39)	missense	probably benign	0.10
R5772:Lrrc24	UTSW	15	76,606,910 (GRCm39)	missense	probably damaging	1.00
R7795:Lrrc24	UTSW	15	76,602,248 (GRCm39)	missense	probably benign	0.43
R8334:Lrrc24	UTSW	15	76,600,200 (GRCm39)	missense	probably benign	0.00
X0028:Lrrc24	UTSW	15	76,600,113 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTTGGGATATCGCAGCAAG -3'
(R):5'- CCGTCGGAATAGAGTGTGTG -3'

Sequencing Primer
(F):5'- CAAGATACAGAAGTGTTGGCGTTTG -3'
(R):5'- GCCCCCACAATGAAGTAATCTTTTCG -3'

Posted On

2016-04-27