Mutagenetix > Incidental Mutations

Incidental Mutation 'R1946:Lrrcc1'

216655

Institutional Source

Beutler Lab

Gene Symbol

Lrrcc1

Ensembl Gene

ENSMUSG00000027550

Gene Name

leucine rich repeat and coiled-coil domain containing 1

Synonyms

MMRRC Submission

039964-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14533788-14572658 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 14550393 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 394 (R394G)

Ref Sequence

ENSEMBL: ENSMUSP00000128733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091325] [ENSMUST00000108370] [ENSMUST00000163660] [ENSMUST00000165436] [ENSMUST00000167858] [ENSMUST00000169079]

Predicted Effect

probably benign
Transcript: ENSMUST00000091325
AA Change: R500G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000088875
Gene: ENSMUSG00000027550
AA Change: R500G

Domain	Start	End	E-Value	Type
Pfam:LRR_8	60	116	1.1e-9	PFAM
Pfam:LRR_4	82	126	4.8e-8	PFAM
Blast:LRR	130	151	1e-5	BLAST
coiled coil region	412	626	N/A	INTRINSIC
coiled coil region	675	718	N/A	INTRINSIC
coiled coil region	757	1010	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108370
AA Change: R516G

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000104007
Gene: ENSMUSG00000027550
AA Change: R516G

Domain	Start	End	E-Value	Type
Pfam:LRR_8	60	116	1.1e-9	PFAM
Pfam:LRR_4	82	124	4.5e-8	PFAM
Blast:LRR	130	151	1e-5	BLAST
low complexity region	289	301	N/A	INTRINSIC
coiled coil region	428	642	N/A	INTRINSIC
coiled coil region	691	734	N/A	INTRINSIC
coiled coil region	773	953	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163660
AA Change: R394G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000128733
Gene: ENSMUSG00000027550
AA Change: R394G

Domain	Start	End	E-Value	Type
Blast:LRR	8	29	7e-6	BLAST
SCOP:d1dcea3	9	71	9e-4	SMART
low complexity region	167	179	N/A	INTRINSIC
coiled coil region	306	520	N/A	INTRINSIC
coiled coil region	569	612	N/A	INTRINSIC
coiled coil region	651	716	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165436

SMART Domains

Protein: ENSMUSP00000129430
Gene: ENSMUSG00000027550

Domain	Start	End	E-Value	Type
Pfam:LRR_9	32	154	4e-10	PFAM
Pfam:LRR_6	60	83	1.4e-4	PFAM
Pfam:LRR_4	60	103	6.2e-11	PFAM
Pfam:LRR_8	60	116	8.1e-11	PFAM
Pfam:LRR_1	61	81	3.3e-4	PFAM
Pfam:LRR_6	78	105	3.4e-3	PFAM
Pfam:LRR_4	82	125	4.9e-9	PFAM
Pfam:LRR_6	103	125	5.1e-4	PFAM
Pfam:LRR_4	104	149	1.2e-8	PFAM
Pfam:LRR_1	105	128	3.8e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000167858
AA Change: R95G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000129368
Gene: ENSMUSG00000027550
AA Change: R95G

Domain	Start	End	E-Value	Type
coiled coil region	7	221	N/A	INTRINSIC
coiled coil region	270	313	N/A	INTRINSIC
low complexity region	450	472	N/A	INTRINSIC
SCOP:d1ek8a_	494	550	7e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169079
AA Change: R516G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126560
Gene: ENSMUSG00000027550
AA Change: R516G

Domain	Start	End	E-Value	Type
Pfam:LRR_4	60	102	4.3e-9	PFAM
internal_repeat_1	109	145	1.05e-6	PROSPERO
low complexity region	289	301	N/A	INTRINSIC
coiled coil region	428	642	N/A	INTRINSIC
coiled coil region	691	734	N/A	INTRINSIC
coiled coil region	773	1026	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000169799
AA Change: R5G

SMART Domains

Protein: ENSMUSP00000126592
Gene: ENSMUSG00000027550
AA Change: R5G

Domain	Start	End	E-Value	Type
coiled coil region	1	131	N/A	INTRINSIC
coiled coil region	200	228	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000171620
AA Change: R69G

SMART Domains

Protein: ENSMUSP00000128252
Gene: ENSMUSG00000027550
AA Change: R69G

Domain	Start	End	E-Value	Type
coiled coil region	30	91	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	G	5: 76,891,704	S253P	probably damaging	Het
Adamts5	C	A	16: 85,899,243	C342F	probably damaging	Het
Adgrv1	C	T	13: 81,374,249	C5923Y	probably damaging	Het
Aen	G	C	7: 78,902,672	E32Q	probably damaging	Het
Apba2	T	C	7: 64,744,630		probably null	Het
Arhgap44	A	G	11: 65,012,096	M509T	probably damaging	Het
Arpc1b	A	G	5: 145,122,633	T56A	probably null	Het
Atoh1	T	C	6: 64,729,459	V46A	probably benign	Het
Bmpr2	T	C	1: 59,868,397	V883A	possibly damaging	Het
Bpifa1	A	T	2: 154,145,634	I135F	probably damaging	Het
Bsn	A	G	9: 108,114,651	F1301L	probably damaging	Het
Capn13	T	C	17: 73,350,525	E240G	possibly damaging	Het
Ccdc18	A	G	5: 108,228,995	E1434G	probably damaging	Het
Coq8b	G	A	7: 27,239,874	V150I	possibly damaging	Het
Cpn1	G	A	19: 43,956,518	T450M	probably benign	Het
Dlg4	A	G	11: 70,039,575	Y432C	probably damaging	Het
Dnah8	C	A	17: 30,712,385	T1458K	probably benign	Het
Dock5	A	T	14: 67,786,316	M1132K	probably damaging	Het
Dsg2	A	G	18: 20,580,548	D192G	probably damaging	Het
F930017D23Rik	G	A	10: 43,593,444		noncoding transcript	Het
Fndc11	A	T	2: 181,221,834	D144V	probably benign	Het
Fut2	A	G	7: 45,651,324	F8S	probably damaging	Het
Gad2	A	T	2: 22,685,428	T515S	probably benign	Het
Ganab	T	A	19: 8,910,808	D439E	probably damaging	Het
Gm10228	C	A	16: 89,041,353	G21V	unknown	Het
Gm13119	T	A	4: 144,361,865	V77E	probably benign	Het
Gm9573	A	T	17: 35,622,524		probably benign	Het
Grm3	A	G	5: 9,512,123	W576R	probably damaging	Het
Gsdmc4	C	A	15: 63,902,780	D51Y	probably benign	Het
Hmcn2	T	C	2: 31,405,635	S2619P	probably damaging	Het
Kcnq2	T	A	2: 181,088,451	D446V	probably benign	Het
Kera	A	G	10: 97,609,147	K123E	probably benign	Het
Kmt2c	A	T	5: 25,315,154	V1986E	probably benign	Het
Lrp11	T	C	10: 7,623,776	Y244H	probably damaging	Het
Lrp1b	T	A	2: 40,665,147	D320V	unknown	Het
Lrrk2	G	A	15: 91,736,661		probably null	Het
Map4k5	A	T	12: 69,845,755	D133E	probably damaging	Het
Megf11	A	T	9: 64,679,276	D461V	probably damaging	Het
Msrb3	A	G	10: 120,852,008	V54A	probably damaging	Het
Ncoa3	T	A	2: 166,059,177	N896K	possibly damaging	Het
Ncor2	G	A	5: 125,034,412	T1314I	probably damaging	Het
Nes	A	G	3: 87,978,514	Q1316R	possibly damaging	Het
Nfe2l3	A	C	6: 51,457,315	Q285P	probably damaging	Het
Nkd1	C	T	8: 88,592,117	H357Y	probably damaging	Het
Nmt2	T	A	2: 3,322,635	I355N	probably benign	Het
Olfr1333	T	C	4: 118,830,026	N139S	probably benign	Het
Olfr1354	T	A	10: 78,916,924	I28N	probably damaging	Het
Olfr1469	T	C	19: 13,410,779	V70A	possibly damaging	Het
Olfr147	T	A	9: 38,402,886	M1K	probably null	Het
Olfr290	T	C	7: 84,916,279	S167P	probably benign	Het
Olfr353	A	T	2: 36,890,446	M134K	possibly damaging	Het
Otx1	G	T	11: 21,998,482	T46K	probably damaging	Het
Panx1	A	G	9: 15,007,526	C346R	probably benign	Het
Pcdhb16	T	A	18: 37,478,899	L304*	probably null	Het
Plet1	A	G	9: 50,504,352		probably null	Het
Plod2	A	G	9: 92,607,135	S707G	probably damaging	Het
Plscr4	G	A	9: 92,483,836	V120I	probably damaging	Het
Ppp1r12b	A	G	1: 134,892,270	V245A	probably damaging	Het
Ppp2r2d	A	G	7: 138,868,467	D19G	probably damaging	Het
Rimbp3	G	A	16: 17,210,427	V572I	probably benign	Het
Ror2	T	C	13: 53,131,849	I110V	probably damaging	Het
Sec24d	A	T	3: 123,353,394	H667L	probably benign	Het
Sema3d	A	G	5: 12,573,843	Q573R	probably damaging	Het
Snx19	T	A	9: 30,432,324	N593K	probably damaging	Het
Sulf1	T	C	1: 12,796,907	V105A	probably benign	Het
Syngr3	T	C	17: 24,687,706	N45S	probably benign	Het
Tenm4	A	T	7: 96,735,808	H524L	probably damaging	Het
Tex30	C	T	1: 44,091,404	G68D	probably damaging	Het
Tmem43	A	T	6: 91,486,909	I389F	probably benign	Het
Trpm1	A	T	7: 64,223,808	N488Y	probably damaging	Het
Usf2	T	C	7: 30,956,238	T1A	probably null	Het
Vill	A	T	9: 119,058,492	H108L	probably benign	Het
Vmn1r16	T	C	6: 57,322,900	I246V	probably benign	Het
Vmn1r188	T	G	13: 22,088,645	S256R	possibly damaging	Het
Zfp12	G	A	5: 143,245,378	E487K	probably damaging	Het
Zfp24	AC	A	18: 24,014,419		probably null	Het

Other mutations in Lrrcc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00978:Lrrcc1	APN	3	14536128	missense	possibly damaging	0.91
IGL01325:Lrrcc1	APN	3	14536541	critical splice donor site	probably null
IGL01681:Lrrcc1	APN	3	14548226	missense	probably benign	0.35
IGL01767:Lrrcc1	APN	3	14547272	missense	probably damaging	0.97
IGL01868:Lrrcc1	APN	3	14554357	nonsense	probably null
IGL03123:Lrrcc1	APN	3	14536084	missense	probably damaging	0.97
PIT1430001:Lrrcc1	UTSW	3	14545596	missense	probably damaging	0.99
R0295:Lrrcc1	UTSW	3	14565849	missense	probably benign	0.05
R0427:Lrrcc1	UTSW	3	14558356	missense	probably damaging	1.00
R0433:Lrrcc1	UTSW	3	14559374	missense	probably damaging	1.00
R0534:Lrrcc1	UTSW	3	14557273	missense	probably damaging	1.00
R0631:Lrrcc1	UTSW	3	14540119	splice site	probably benign
R0635:Lrrcc1	UTSW	3	14559228	missense	probably benign	0.11
R1355:Lrrcc1	UTSW	3	14548114	missense	probably benign	0.07
R1370:Lrrcc1	UTSW	3	14548114	missense	probably benign	0.07
R1727:Lrrcc1	UTSW	3	14537363	missense	probably damaging	0.99
R1822:Lrrcc1	UTSW	3	14559225	unclassified	probably benign
R2254:Lrrcc1	UTSW	3	14547255	missense	probably damaging	1.00
R2362:Lrrcc1	UTSW	3	14563024	missense	probably damaging	1.00
R2392:Lrrcc1	UTSW	3	14536520	missense	probably damaging	1.00
R4105:Lrrcc1	UTSW	3	14550328	missense	probably benign	0.21
R4464:Lrrcc1	UTSW	3	14557318	missense	probably damaging	1.00
R4484:Lrrcc1	UTSW	3	14551443	missense	probably damaging	1.00
R4543:Lrrcc1	UTSW	3	14539791	missense	probably damaging	0.98
R4718:Lrrcc1	UTSW	3	14536032	missense	probably damaging	1.00
R4734:Lrrcc1	UTSW	3	14562285	missense	probably damaging	1.00
R4799:Lrrcc1	UTSW	3	14536096	nonsense	probably null
R4841:Lrrcc1	UTSW	3	14562511	missense	probably benign	0.04
R4842:Lrrcc1	UTSW	3	14562511	missense	probably benign	0.04
R5900:Lrrcc1	UTSW	3	14562126	missense	possibly damaging	0.69
R6338:Lrrcc1	UTSW	3	14547316	missense	possibly damaging	0.48
R7001:Lrrcc1	UTSW	3	14540095	missense	probably damaging	0.99
R7036:Lrrcc1	UTSW	3	14563009	missense	possibly damaging	0.80
R7342:Lrrcc1	UTSW	3	14554371	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGGACAAAGGCATATACTGC -3'
(R):5'- TTGGCCGAATAAAGATGTAATCCG -3'

Sequencing Primer
(F):5'- aGAGTTTGACAATACCTCAG -3'
(R):5'- CCGAAGGCTGCATGATTGC -3'

Posted On

2014-08-01