Mutagenetix > Incidental Mutations

Incidental Mutation 'R5655:Lrrc37a'

442277

Institutional Source

Beutler Lab

Gene Symbol

Lrrc37a

Ensembl Gene

ENSMUSG00000078632

Gene Name

leucine rich repeat containing 37A

Synonyms

LOC237954

MMRRC Submission

043301-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

R5655 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103451955-103504597 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103498555 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 2015 (I2015L)

Ref Sequence

ENSEMBL: ENSMUSP00000121903 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000153273]

Predicted Effect

probably benign
Transcript: ENSMUST00000153273
AA Change: I2015L

PolyPhen 2 Score 0.283 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000121903
Gene: ENSMUSG00000078632
AA Change: I2015L

Domain	Start	End	E-Value	Type
Pfam:LRRC37	199	269	2.6e-15	PFAM
low complexity region	313	329	N/A	INTRINSIC
Pfam:LRRC37	363	432	4e-18	PFAM
low complexity region	457	467	N/A	INTRINSIC
low complexity region	480	492	N/A	INTRINSIC
Pfam:LRRC37	550	619	2.1e-21	PFAM
Pfam:LRRC37	637	704	2.9e-12	PFAM
Pfam:LRRC37	780	851	2.5e-12	PFAM
Pfam:LRRC37	1078	1148	2.7e-18	PFAM
Pfam:LRRC37	1149	1190	2.1e-7	PFAM
Pfam:LRRC37	1187	1258	2.5e-25	PFAM
Pfam:LRRC37	1255	1300	2.6e-7	PFAM
Pfam:LRRC37	1299	1370	2.4e-27	PFAM
Pfam:LRRC37	1369	1420	2.9e-8	PFAM
Pfam:LRRC37	1419	1488	1.3e-24	PFAM
Pfam:LRRC37	1509	1578	9.2e-21	PFAM
Pfam:LRRC37	1575	1620	1.7e-6	PFAM
Pfam:LRRC37	1619	1686	1.7e-20	PFAM
Pfam:LRRC37	1690	1736	7e-10	PFAM
Pfam:LRRC37	1733	1799	7.5e-17	PFAM
Pfam:LRRC37	1789	1854	5.1e-12	PFAM
Pfam:LRRC37	1850	1921	4.2e-21	PFAM
Pfam:LRRC37	1915	1969	1.1e-9	PFAM
low complexity region	2143	2167	N/A	INTRINSIC
low complexity region	2185	2209	N/A	INTRINSIC
low complexity region	2228	2249	N/A	INTRINSIC
low complexity region	2262	2274	N/A	INTRINSIC
low complexity region	2284	2297	N/A	INTRINSIC
LRR	2419	2438	3.09e1	SMART
LRR	2439	2462	9.96e-1	SMART
LRR	2463	2486	8.24e0	SMART
LRR	2490	2514	3.18e1	SMART
low complexity region	2535	2547	N/A	INTRINSIC
coiled coil region	2712	2735	N/A	INTRINSIC
low complexity region	2861	2871	N/A	INTRINSIC
low complexity region	2937	2950	N/A	INTRINSIC
Pfam:LRRC37AB_C	3063	3209	1.1e-77	PFAM

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	A	5: 103,648,880	I99F	probably benign	Het
Acan	G	A	7: 79,100,043	D1521N	possibly damaging	Het
Acap3	C	T	4: 155,896,619	T53I	probably benign	Het
Actr3b	G	T	5: 25,848,368	V232F	probably damaging	Het
Adgrl1	G	A	8: 83,938,601	V1311M	possibly damaging	Het
Arhgap23	T	C	11: 97,452,546		probably null	Het
Asns	A	C	6: 7,685,309	M116R	probably benign	Het
Asprv1	A	T	6: 86,628,482	E103D	probably benign	Het
Atxn2	T	C	5: 121,747,426	I232T	probably damaging	Het
B020004C17Rik	C	T	14: 57,015,232		probably benign	Het
Bckdha	A	G	7: 25,630,364	Y414H	probably damaging	Het
Bod1l	G	A	5: 41,817,044	T2309M	probably benign	Het
Cacna2d1	T	A	5: 16,302,335	F361I	probably damaging	Het
Cdc45	C	T	16: 18,807,279		probably null	Het
Cog4	A	G	8: 110,863,307	Y368C	probably damaging	Het
Cyp4a12b	C	G	4: 115,433,797	H341D	probably damaging	Het
Ddx10	A	T	9: 53,209,687		probably null	Het
Dnah12	A	T	14: 26,710,269	Y414F	probably benign	Het
Dync1h1	A	G	12: 110,629,062	K1445R	probably benign	Het
Dync2h1	A	C	9: 7,148,659	D928E	probably benign	Het
Dzip1	T	A	14: 118,887,232		probably null	Het
Fam8a1	T	A	13: 46,674,338	L334H	probably damaging	Het
Fgf14	T	C	14: 124,192,416	N36D	probably benign	Het
Fmnl3	A	T	15: 99,321,862	F668L	probably damaging	Het
Foxl2	C	T	9: 98,955,995	P112L	probably damaging	Het
Foxp2	T	G	6: 15,197,113	H51Q	probably damaging	Het
Frem3	A	T	8: 80,612,694	T539S	probably benign	Het
Ftcd	G	T	10: 76,588,103	G493C	probably damaging	Het
Gab2	A	G	7: 97,298,892	S230G	probably benign	Het
Gabra1	A	T	11: 42,182,923		probably null	Het
Gm14496	A	T	2: 181,996,182	I350L	probably benign	Het
Idh2	A	C	7: 80,098,248	C235G	probably damaging	Het
Ift140	C	T	17: 25,045,064	L514F	probably damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Lamc3	C	A	2: 31,925,717	R1142S	probably benign	Het
Lman1l	C	T	9: 57,615,975	V100M	probably damaging	Het
Lmod2	A	T	6: 24,603,854	H276L	possibly damaging	Het
Mcf2l	A	G	8: 13,010,444	E764G	probably damaging	Het
Mcph1	G	A	8: 18,788,310	M749I	probably benign	Het
Msh2	C	T	17: 87,719,443	A789V	possibly damaging	Het
Ndufa2	T	C	18: 36,744,466	I19V	probably benign	Het
Neurod4	T	A	10: 130,271,133	K91*	probably null	Het
Nos1	G	T	5: 117,923,257	G883C	probably damaging	Het
Npdc1	A	T	2: 25,407,680	H121L	possibly damaging	Het
Olfr139	A	C	11: 74,044,334	Y313*	probably null	Het
Olfr318	G	A	11: 58,720,251	H266Y	probably damaging	Het
Orc1	A	G	4: 108,593,439	I123V	probably benign	Het
P2ry13	C	T	3: 59,209,839	V173M	possibly damaging	Het
Park2	C	T	17: 11,237,649	A119V	probably damaging	Het
Pigk	T	A	3: 152,740,221	N156K	probably damaging	Het
Pik3ap1	A	T	19: 41,298,241	F569Y	possibly damaging	Het
Pla2g4c	T	A	7: 13,329,964		probably null	Het
Plk3	A	G	4: 117,131,480	L324P	probably damaging	Het
Pom121	A	G	5: 135,392,317	S260P	unknown	Het
Prrt2	G	A	7: 127,019,402	A297V	probably damaging	Het
Prss47	A	T	13: 65,045,043	V308E	probably damaging	Het
Ptbp2	T	C	3: 119,724,157	I139V	probably benign	Het
Ptprz1	A	T	6: 22,999,773	M621L	probably benign	Het
Rab6a	G	A	7: 100,608,294		probably null	Het
Ranbp1	C	T	16: 18,241,805	D127N	probably damaging	Het
Rnpepl1	G	T	1: 92,919,310	R272L	probably damaging	Het
Slc27a2	T	C	2: 126,578,939	L314P	probably damaging	Het
Slc6a5	A	T	7: 49,956,470	M709L	probably benign	Het
Smarcc1	A	T	9: 110,157,344	S238C	probably null	Het
Snx29	C	T	16: 11,755,321	L476F	probably damaging	Het
Sorbs2	T	C	8: 45,741,581		probably null	Het
St6galnac2	T	C	11: 116,685,146	N160D	probably damaging	Het
Thsd7b	A	G	1: 129,628,934		probably null	Het
Trpc4ap	G	A	2: 155,653,627	T306I	possibly damaging	Het
Ubr5	T	G	15: 38,015,093	Y891S	probably damaging	Het
Vmn1r220	A	G	13: 23,184,128	F133L	probably benign	Het
Vmn1r56	T	A	7: 5,195,701	I306F	possibly damaging	Het
Vmn1r67	T	C	7: 10,447,388	V193A	probably benign	Het
Yipf1	T	A	4: 107,345,157	V239E	probably damaging	Het
Zfp7	G	T	15: 76,891,429	C557F	probably damaging	Het

Other mutations in Lrrc37a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Lrrc37a	APN	11	103500351	missense	probably benign	0.09
IGL01339:Lrrc37a	APN	11	103497937	missense	unknown
IGL01352:Lrrc37a	APN	11	103499355	missense	probably benign	0.39
IGL01382:Lrrc37a	APN	11	103498755	missense	probably damaging	0.99
IGL01395:Lrrc37a	APN	11	103503861	missense	probably benign	0.24
IGL01645:Lrrc37a	APN	11	103504264	missense	probably benign	0.01
IGL01925:Lrrc37a	APN	11	103498419	missense	probably benign	0.01
IGL02006:Lrrc37a	APN	11	103456491	missense	probably damaging	1.00
IGL02127:Lrrc37a	APN	11	103504539	missense	probably benign	0.01
IGL02184:Lrrc37a	APN	11	103497609	missense	unknown
IGL02218:Lrrc37a	APN	11	103500381	missense	probably benign	0.03
IGL02436:Lrrc37a	APN	11	103498177	missense	unknown
IGL02487:Lrrc37a	APN	11	103496037	missense	unknown
IGL02597:Lrrc37a	APN	11	103504287	missense	probably benign	0.01
IGL02634:Lrrc37a	APN	11	103499112	missense	probably benign	0.09
IGL02818:Lrrc37a	APN	11	103501306	missense	possibly damaging	0.47
IGL02829:Lrrc37a	APN	11	103491174	missense	unknown
IGL02987:Lrrc37a	APN	11	103500413	missense	probably benign	0.03
IGL03081:Lrrc37a	APN	11	103456595	missense	unknown
IGL03210:Lrrc37a	APN	11	103499505	missense	probably benign	0.29
IGL03239:Lrrc37a	APN	11	103499407	missense	probably benign	0.03
IGL03285:Lrrc37a	APN	11	103497673	missense	unknown
IGL03296:Lrrc37a	APN	11	103497673	missense	unknown
IGL03299:Lrrc37a	APN	11	103497673	missense	unknown
IGL03370:Lrrc37a	APN	11	103497673	missense	unknown
IGL03390:Lrrc37a	APN	11	103496031	missense	unknown
F5770:Lrrc37a	UTSW	11	103455512	missense	possibly damaging	0.95
P0035:Lrrc37a	UTSW	11	103503132	missense	possibly damaging	0.84
PIT4458001:Lrrc37a	UTSW	11	103504512	missense	probably benign	0.04
R0112:Lrrc37a	UTSW	11	103500913	missense	probably benign	0.19
R0194:Lrrc37a	UTSW	11	103499790	missense	possibly damaging	0.82
R0360:Lrrc37a	UTSW	11	103500640	missense	possibly damaging	0.89
R0364:Lrrc37a	UTSW	11	103500640	missense	possibly damaging	0.89
R0395:Lrrc37a	UTSW	11	103464395	missense	unknown
R0418:Lrrc37a	UTSW	11	103503438	missense	probably benign	0.03
R0505:Lrrc37a	UTSW	11	103503025	missense	probably benign	0.10
R0583:Lrrc37a	UTSW	11	103498437	missense	probably benign	0.01
R1078:Lrrc37a	UTSW	11	103497631	missense	unknown
R1581:Lrrc37a	UTSW	11	103457017	nonsense	probably null
R1888:Lrrc37a	UTSW	11	103498761	missense	probably benign	0.18
R1888:Lrrc37a	UTSW	11	103498761	missense	probably benign	0.18
R1907:Lrrc37a	UTSW	11	103457156	missense	unknown
R1982:Lrrc37a	UTSW	11	103498966	missense	probably benign	0.20
R1991:Lrrc37a	UTSW	11	103500261	missense	probably benign	0.29
R2017:Lrrc37a	UTSW	11	103501125	missense	probably benign	0.03
R2103:Lrrc37a	UTSW	11	103500261	missense	probably benign	0.29
R2110:Lrrc37a	UTSW	11	103497822	missense	unknown
R2190:Lrrc37a	UTSW	11	103500043	missense	possibly damaging	0.82
R2252:Lrrc37a	UTSW	11	103501467	missense	probably benign	0.01
R2253:Lrrc37a	UTSW	11	103501467	missense	probably benign	0.01
R2894:Lrrc37a	UTSW	11	103497864	missense	unknown
R2899:Lrrc37a	UTSW	11	103497864	missense	unknown
R3439:Lrrc37a	UTSW	11	103497864	missense	unknown
R3899:Lrrc37a	UTSW	11	103497546	missense	unknown
R3916:Lrrc37a	UTSW	11	103455518	missense	possibly damaging	0.83
R3921:Lrrc37a	UTSW	11	103501470	missense	probably benign	0.10
R3977:Lrrc37a	UTSW	11	103457604	missense	unknown
R4043:Lrrc37a	UTSW	11	103498653	missense	possibly damaging	0.95
R4077:Lrrc37a	UTSW	11	103497982	missense	unknown
R4237:Lrrc37a	UTSW	11	103502289	missense	probably damaging	0.97
R4461:Lrrc37a	UTSW	11	103464354	critical splice donor site	probably null
R4498:Lrrc37a	UTSW	11	103501798	missense	probably benign	0.20
R4593:Lrrc37a	UTSW	11	103498969	missense	possibly damaging	0.64
R4670:Lrrc37a	UTSW	11	103504537	missense	probably benign	0.10
R4698:Lrrc37a	UTSW	11	103504104	missense	possibly damaging	0.83
R4750:Lrrc37a	UTSW	11	103455480	missense	probably benign	0.24
R4805:Lrrc37a	UTSW	11	103504309	missense	probably benign	0.01
R4940:Lrrc37a	UTSW	11	103497612	missense	unknown
R4983:Lrrc37a	UTSW	11	103497618	missense	unknown
R4989:Lrrc37a	UTSW	11	103456739	missense	unknown
R5046:Lrrc37a	UTSW	11	103498240	missense	unknown
R5217:Lrrc37a	UTSW	11	103456954	missense	unknown
R5300:Lrrc37a	UTSW	11	103456958	missense	unknown
R5509:Lrrc37a	UTSW	11	103500535	missense	probably benign	0.23
R5550:Lrrc37a	UTSW	11	103498177	missense	unknown
R5668:Lrrc37a	UTSW	11	103500175	missense	probably benign	0.03
R5750:Lrrc37a	UTSW	11	103458097	missense	unknown
R5815:Lrrc37a	UTSW	11	103503786	missense	probably benign	0.01
R5976:Lrrc37a	UTSW	11	103499071	missense	possibly damaging	0.73
R5990:Lrrc37a	UTSW	11	103500958	missense	probably benign	0.19
R6004:Lrrc37a	UTSW	11	103502536	missense	possibly damaging	0.56
R6019:Lrrc37a	UTSW	11	103456596	missense	unknown
R6056:Lrrc37a	UTSW	11	103497658	missense	unknown
R6125:Lrrc37a	UTSW	11	103501560	missense	probably benign	0.19
R6190:Lrrc37a	UTSW	11	103501216	missense	possibly damaging	0.67
R6295:Lrrc37a	UTSW	11	103497633	missense	unknown
R6320:Lrrc37a	UTSW	11	103504051	missense	probably benign	0.10
R6354:Lrrc37a	UTSW	11	103464387	missense	unknown
R6375:Lrrc37a	UTSW	11	103501089	missense	probably benign	0.19
R6406:Lrrc37a	UTSW	11	103497535	missense	unknown
R6468:Lrrc37a	UTSW	11	103460840	missense	unknown
R6490:Lrrc37a	UTSW	11	103456660	missense	unknown
R6502:Lrrc37a	UTSW	11	103492179	missense	unknown
R6509:Lrrc37a	UTSW	11	103504414	missense	probably benign	0.04
R6749:Lrrc37a	UTSW	11	103502097	missense	probably benign	0.29
R6768:Lrrc37a	UTSW	11	103500123	missense	probably benign	0.36
R6912:Lrrc37a	UTSW	11	103457543	missense	unknown
R7081:Lrrc37a	UTSW	11	103457955	missense	unknown
R7083:Lrrc37a	UTSW	11	103503340	missense	probably benign	0.03
R7154:Lrrc37a	UTSW	11	103502856	missense	probably benign	0.03
R7195:Lrrc37a	UTSW	11	103457775	missense	unknown
R7265:Lrrc37a	UTSW	11	103498941	missense	probably benign	0.09
R7276:Lrrc37a	UTSW	11	103456746	missense	unknown
R7362:Lrrc37a	UTSW	11	103457509	missense	unknown
R7450:Lrrc37a	UTSW	11	103498326	missense	probably benign	0.01
R7458:Lrrc37a	UTSW	11	103497432	missense	unknown
R7487:Lrrc37a	UTSW	11	103498219	missense	unknown
R7535:Lrrc37a	UTSW	11	103501857	missense	possibly damaging	0.68
R7593:Lrrc37a	UTSW	11	103500952	missense	probably benign	0.03
R7677:Lrrc37a	UTSW	11	103499638	missense	probably benign	0.26
R7686:Lrrc37a	UTSW	11	103498236	missense	unknown
R7694:Lrrc37a	UTSW	11	103504378	missense	probably benign	0.12
R7696:Lrrc37a	UTSW	11	103498437	missense	probably benign	0.01
R7717:Lrrc37a	UTSW	11	103504300	missense	probably benign	0.01
R7736:Lrrc37a	UTSW	11	103497459	missense	unknown
V7580:Lrrc37a	UTSW	11	103455512	missense	possibly damaging	0.95
X0018:Lrrc37a	UTSW	11	103499544	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- AACTGGTGCAGAACGTTTAAC -3'
(R):5'- TCCAAGCCCCAATCTAAATGTTG -3'

Sequencing Primer
(F):5'- CTGGTGCAGAACGTTTAACCATTG -3'
(R):5'- GCCCCAATCTAAATGTTGAGACTTC -3'

Posted On

2016-11-09