Mutagenetix > Incidental Mutation

Incidental Mutation 'R5334:Lrrc37'

423426

Institutional Source

Beutler Lab

Gene Symbol

Lrrc37

Ensembl Gene

ENSMUSG00000034239

Gene Name

leucine rich repeat containing 37

Synonyms

LOC380730, Gm884

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R5334 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103425403-103511966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103504699 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 2423 (Q2423R)

Ref Sequence

ENSEMBL: ENSMUSP00000058511 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059279] [ENSMUST00000167262]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000059279
AA Change: Q2423R

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000058511
Gene: ENSMUSG00000034239
AA Change: Q2423R

Domain	Start	End	E-Value	Type
Pfam:LRRC37	149	223	5.4e-10	PFAM
low complexity region	244	264	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
Pfam:LRRC37	335	403	1.9e-14	PFAM
Pfam:LRRC37	419	514	1.2e-8	PFAM
Pfam:LRRC37	565	620	2e-10	PFAM
Pfam:LRRC37	669	739	7.6e-18	PFAM
Pfam:LRRC37	741	792	1.6e-9	PFAM
Pfam:LRRC37	789	860	1.4e-23	PFAM
Pfam:LRRC37	861	914	2.8e-9	PFAM
Pfam:LRRC37	911	983	1.9e-23	PFAM
Pfam:LRRC37	979	1038	1e-8	PFAM
Pfam:LRRC37	1034	1105	2.7e-24	PFAM
Pfam:LRRC37	1105	1158	2.3e-9	PFAM
Pfam:LRRC37	1155	1219	2.4e-17	PFAM
Pfam:LRRC37	1222	1265	9.2e-7	PFAM
Pfam:LRRC37	1263	1330	4.9e-24	PFAM
Pfam:LRRC37	1331	1384	1.4e-10	PFAM
Pfam:LRRC37	1380	1451	4.3e-15	PFAM
Pfam:LRRC37	1487	1558	1.9e-15	PFAM
Pfam:LRRC37	1594	1665	2.9e-18	PFAM
Pfam:LRRC37	1701	1772	5.6e-23	PFAM
Pfam:LRRC37	1808	1910	2.8e-18	PFAM
Pfam:LRRC37	1915	1986	7.2e-17	PFAM
Pfam:LRRC37	2022	2093	4.9e-22	PFAM
Pfam:LRRC37	2129	2200	4.4e-22	PFAM
Pfam:LRRC37	2236	2307	2.1e-21	PFAM
Pfam:LRRC37	2343	2414	3.8e-17	PFAM
Pfam:LRRC37	2449	2519	1.6e-19	PFAM
LRR	2777	2796	3.09e1	SMART
LRR_TYP	2797	2820	2.09e-3	SMART
LRR	2821	2844	4.44e0	SMART
LRR	2848	2872	8.26e1	SMART
low complexity region	2991	3002	N/A	INTRINSIC
low complexity region	3220	3230	N/A	INTRINSIC
low complexity region	3382	3393	N/A	INTRINSIC
Pfam:LRRC37AB_C	3424	3570	7.7e-76	PFAM
low complexity region	3571	3589	N/A	INTRINSIC
low complexity region	3622	3640	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167262
AA Change: Q247R

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

SMART Domains

Protein: ENSMUSP00000129662
Gene: ENSMUSG00000034239
AA Change: Q247R

Domain	Start	End	E-Value	Type
internal_repeat_1	1	70	1.46e-11	PROSPERO
internal_repeat_1	108	290	1.46e-11	PROSPERO
LRR	601	620	3.09e1	SMART
LRR_TYP	621	644	2.09e-3	SMART
LRR	645	668	4.44e0	SMART
LRR	672	696	8.26e1	SMART
low complexity region	815	826	N/A	INTRINSIC
low complexity region	1044	1054	N/A	INTRINSIC
low complexity region	1206	1217	N/A	INTRINSIC
Pfam:LRRC37AB_C	1243	1396	1.2e-92	PFAM
low complexity region	1446	1464	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anapc15	C	T	7: 101,547,810 (GRCm39)	P68L	probably damaging	Het
Ap4s1	C	T	12: 51,785,454 (GRCm39)	S142L	probably benign	Het
Apol11a	A	G	15: 77,400,953 (GRCm39)	T147A	probably benign	Het
Aqp9	T	C	9: 71,030,292 (GRCm39)		probably null	Het
Arhgap25	T	A	6: 87,440,243 (GRCm39)	N468I	possibly damaging	Het
Arhgef2	T	A	3: 88,553,636 (GRCm39)	S924R	probably damaging	Het
Atad3a	A	T	4: 155,840,146 (GRCm39)	L144Q	probably damaging	Het
Ccbe1	T	C	18: 66,216,316 (GRCm39)	I136V	probably damaging	Het
Col24a1	C	A	3: 145,167,280 (GRCm39)	P1119Q	possibly damaging	Het
Dgkd	T	C	1: 87,865,989 (GRCm39)		probably null	Het
Dnah7a	A	G	1: 53,542,805 (GRCm39)	I2455T	probably benign	Het
Dock2	T	C	11: 34,178,643 (GRCm39)	T1795A	probably benign	Het
Dpp6	A	T	5: 27,914,538 (GRCm39)	E541V	probably benign	Het
Edem1	T	C	6: 108,825,793 (GRCm39)		probably null	Het
Fbxo41	A	G	6: 85,455,465 (GRCm39)	V573A	probably damaging	Het
Fech	A	C	18: 64,597,191 (GRCm39)	V256G	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gal3st4	T	G	5: 138,263,983 (GRCm39)	K339Q	probably benign	Het
Gpr158	T	A	2: 21,832,316 (GRCm39)	S1139T	probably benign	Het
Gpr180	A	T	14: 118,397,468 (GRCm39)	S321C	probably damaging	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
Grin2c	T	G	11: 115,146,881 (GRCm39)	N438T	possibly damaging	Het
Hcn2	T	C	10: 79,562,125 (GRCm39)	S374P	probably damaging	Het
Hmcn1	T	A	1: 150,631,123 (GRCm39)	I892F	probably damaging	Het
Ifi207	C	T	1: 173,555,097 (GRCm39)	V869I	probably benign	Het
Itgad	T	C	7: 127,788,458 (GRCm39)	Y390H	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kcnj15	A	G	16: 95,097,508 (GRCm39)	K377E	probably damaging	Het
Kcnq3	A	G	15: 65,897,073 (GRCm39)	S276P	probably damaging	Het
Klhl26	T	C	8: 70,904,968 (GRCm39)	D280G	probably damaging	Het
Lmnb2	C	T	10: 80,739,791 (GRCm39)	V376I	probably benign	Het
Mepce	T	A	5: 137,784,889 (GRCm39)	R29S	probably benign	Het
Mlh3	A	G	12: 85,292,535 (GRCm39)		probably null	Het
Mlip	T	A	9: 77,150,958 (GRCm39)	T33S	probably damaging	Het
Msantd5f6	T	A	4: 73,321,754 (GRCm39)	M94L	probably benign	Het
Mtpn	C	T	6: 35,489,225 (GRCm39)	D100N	probably benign	Het
Ncapg2	T	C	12: 116,390,257 (GRCm39)	I402T	probably damaging	Het
Or2aj6	C	G	16: 19,443,241 (GRCm39)	G203A	probably benign	Het
Or5m13b	T	C	2: 85,754,058 (GRCm39)	Y149H	probably damaging	Het
Pcsk5	T	C	19: 17,439,215 (GRCm39)	D1301G	probably benign	Het
Pilrb1	T	C	5: 137,853,165 (GRCm39)	M213V	probably benign	Het
Plxdc1	T	C	11: 97,846,931 (GRCm39)	T163A	possibly damaging	Het
Pnpla2	T	C	7: 141,039,406 (GRCm39)	L373P	probably damaging	Het
Prickle2	A	G	6: 92,402,665 (GRCm39)	Y52H	probably damaging	Het
Rnf220	A	G	4: 117,129,548 (GRCm39)	C294R	probably damaging	Het
Slc12a1	A	G	2: 125,059,809 (GRCm39)	D903G	probably damaging	Het
Slc34a1	T	C	13: 24,003,034 (GRCm39)	F228S	probably damaging	Het
Sptbn1	T	C	11: 30,087,364 (GRCm39)	E1025G	possibly damaging	Het
Sult1c2	T	G	17: 54,271,758 (GRCm39)	D143A	probably damaging	Het
Taar1	T	G	10: 23,796,443 (GRCm39)	I47R	probably damaging	Het
Tctn3	G	T	19: 40,591,266 (GRCm39)	Q514K	probably benign	Het
Tg	T	C	15: 66,549,904 (GRCm39)	F222S	probably damaging	Het
Tmem236	C	A	2: 14,223,871 (GRCm39)	T220K	possibly damaging	Het
Trim50	C	T	5: 135,396,330 (GRCm39)	T426M	probably damaging	Het
Vmn1r237	T	C	17: 21,534,942 (GRCm39)	F222L	probably benign	Het
Wrap73	G	A	4: 154,229,731 (GRCm39)	R34Q	probably damaging	Het
Zfp85	T	C	13: 67,899,803 (GRCm39)	Y52C	probably damaging	Het

Other mutations in Lrrc37

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Lrrc37	APN	11	103,506,236 (GRCm39)	missense	probably benign	0.01
IGL00576:Lrrc37	APN	11	103,508,212 (GRCm39)	unclassified	probably benign
IGL00813:Lrrc37	APN	11	103,505,324 (GRCm39)	missense	probably benign	0.05
IGL01311:Lrrc37	APN	11	103,425,502 (GRCm39)	missense	unknown
IGL01946:Lrrc37	APN	11	103,503,759 (GRCm39)	missense	probably benign	0.28
IGL02217:Lrrc37	APN	11	103,503,697 (GRCm39)	splice site	probably benign
IGL02556:Lrrc37	APN	11	103,504,109 (GRCm39)	missense	probably benign	0.01
IGL02825:Lrrc37	APN	11	103,507,894 (GRCm39)	unclassified	probably benign
IGL02868:Lrrc37	APN	11	103,505,965 (GRCm39)	missense	probably benign	0.10
IGL02904:Lrrc37	APN	11	103,507,187 (GRCm39)	unclassified	probably benign
IGL03008:Lrrc37	APN	11	103,511,293 (GRCm39)	missense	unknown
IGL03120:Lrrc37	APN	11	103,507,801 (GRCm39)	unclassified	probably benign
IGL03159:Lrrc37	APN	11	103,495,328 (GRCm39)	splice site	probably benign
IGL03181:Lrrc37	APN	11	103,507,242 (GRCm39)	unclassified	probably benign
IGL03202:Lrrc37	APN	11	103,506,199 (GRCm39)	missense	probably benign	0.03
IGL03263:Lrrc37	APN	11	103,504,525 (GRCm39)	missense	possibly damaging	0.86
esteemed	UTSW	11	103,509,656 (GRCm39)	missense	unknown
lauded	UTSW	11	103,503,929 (GRCm39)	missense	possibly damaging	0.62
PIT4486001:Lrrc37	UTSW	11	103,509,027 (GRCm39)	missense	unknown
R0040:Lrrc37	UTSW	11	103,433,816 (GRCm39)	missense	probably damaging	0.99
R0135:Lrrc37	UTSW	11	103,508,873 (GRCm39)	unclassified	probably benign
R0141:Lrrc37	UTSW	11	103,504,512 (GRCm39)	missense	probably damaging	1.00
R0226:Lrrc37	UTSW	11	103,494,067 (GRCm39)	missense	probably benign	0.08
R0547:Lrrc37	UTSW	11	103,510,990 (GRCm39)	missense	unknown
R0646:Lrrc37	UTSW	11	103,503,986 (GRCm39)	nonsense	probably null
R0685:Lrrc37	UTSW	11	103,507,714 (GRCm39)	unclassified	probably benign
R0732:Lrrc37	UTSW	11	103,510,664 (GRCm39)	missense	unknown
R1015:Lrrc37	UTSW	11	103,436,622 (GRCm39)	missense	probably benign	0.01
R1166:Lrrc37	UTSW	11	103,506,209 (GRCm39)	missense	probably benign	0.21
R1168:Lrrc37	UTSW	11	103,509,776 (GRCm39)	unclassified	probably benign
R1257:Lrrc37	UTSW	11	103,425,467 (GRCm39)	missense	unknown
R1545:Lrrc37	UTSW	11	103,499,745 (GRCm39)	missense	probably benign	0.16
R1570:Lrrc37	UTSW	11	103,500,764 (GRCm39)	missense	possibly damaging	0.76
R1677:Lrrc37	UTSW	11	103,505,768 (GRCm39)	missense	probably benign	0.19
R1703:Lrrc37	UTSW	11	103,431,700 (GRCm39)	missense	probably benign	0.39
R1719:Lrrc37	UTSW	11	103,507,897 (GRCm39)	unclassified	probably benign
R1752:Lrrc37	UTSW	11	103,505,381 (GRCm39)	missense	possibly damaging	0.67
R1870:Lrrc37	UTSW	11	103,511,431 (GRCm39)	missense	unknown
R2155:Lrrc37	UTSW	11	103,511,285 (GRCm39)	missense	unknown
R2191:Lrrc37	UTSW	11	103,509,793 (GRCm39)	unclassified	probably benign
R2271:Lrrc37	UTSW	11	103,505,033 (GRCm39)	missense	possibly damaging	0.53
R2378:Lrrc37	UTSW	11	103,510,537 (GRCm39)	unclassified	probably benign
R2405:Lrrc37	UTSW	11	103,511,810 (GRCm39)	missense	unknown
R2864:Lrrc37	UTSW	11	103,431,744 (GRCm39)	missense	probably benign	0.34
R3011:Lrrc37	UTSW	11	103,503,929 (GRCm39)	missense	possibly damaging	0.62
R3415:Lrrc37	UTSW	11	103,505,435 (GRCm39)	missense	possibly damaging	0.82
R3417:Lrrc37	UTSW	11	103,505,435 (GRCm39)	missense	possibly damaging	0.82
R3835:Lrrc37	UTSW	11	103,510,836 (GRCm39)	missense	unknown
R3974:Lrrc37	UTSW	11	103,509,927 (GRCm39)	unclassified	probably benign
R4019:Lrrc37	UTSW	11	103,506,119 (GRCm39)	missense	probably benign	0.19
R4020:Lrrc37	UTSW	11	103,506,119 (GRCm39)	missense	probably benign	0.19
R4176:Lrrc37	UTSW	11	103,427,426 (GRCm39)	missense	unknown
R4361:Lrrc37	UTSW	11	103,508,327 (GRCm39)	frame shift	probably null
R4418:Lrrc37	UTSW	11	103,509,140 (GRCm39)	unclassified	probably benign
R4633:Lrrc37	UTSW	11	103,509,957 (GRCm39)	unclassified	probably benign
R4693:Lrrc37	UTSW	11	103,510,686 (GRCm39)	missense	unknown
R4758:Lrrc37	UTSW	11	103,505,290 (GRCm39)	missense	possibly damaging	0.48
R4878:Lrrc37	UTSW	11	103,508,717 (GRCm39)	unclassified	probably benign
R4887:Lrrc37	UTSW	11	103,505,698 (GRCm39)	missense	probably benign	0.03
R4944:Lrrc37	UTSW	11	103,504,286 (GRCm39)	missense	possibly damaging	0.68
R4952:Lrrc37	UTSW	11	103,505,033 (GRCm39)	missense	possibly damaging	0.53
R5030:Lrrc37	UTSW	11	103,425,675 (GRCm39)	missense	unknown
R5183:Lrrc37	UTSW	11	103,433,947 (GRCm39)	missense	probably damaging	0.99
R5294:Lrrc37	UTSW	11	103,507,057 (GRCm39)	unclassified	probably benign
R5317:Lrrc37	UTSW	11	103,504,971 (GRCm39)	missense	possibly damaging	0.73
R5426:Lrrc37	UTSW	11	103,511,586 (GRCm39)	missense	unknown
R5467:Lrrc37	UTSW	11	103,494,091 (GRCm39)	nonsense	probably null
R5518:Lrrc37	UTSW	11	103,506,079 (GRCm39)	missense	probably benign	0.03
R5634:Lrrc37	UTSW	11	103,432,840 (GRCm39)	missense	possibly damaging	0.95
R5647:Lrrc37	UTSW	11	103,508,300 (GRCm39)	unclassified	probably benign
R5663:Lrrc37	UTSW	11	103,503,949 (GRCm39)	missense	probably benign	0.01
R5668:Lrrc37	UTSW	11	103,507,880 (GRCm39)	unclassified	probably benign
R5763:Lrrc37	UTSW	11	103,504,469 (GRCm39)	missense	probably damaging	0.97
R5829:Lrrc37	UTSW	11	103,432,712 (GRCm39)	missense	possibly damaging	0.95
R5871:Lrrc37	UTSW	11	103,507,280 (GRCm39)	unclassified	probably benign
R5905:Lrrc37	UTSW	11	103,505,081 (GRCm39)	missense	probably damaging	0.98
R5940:Lrrc37	UTSW	11	103,504,712 (GRCm39)	missense	probably benign	0.18
R5964:Lrrc37	UTSW	11	103,432,946 (GRCm39)	missense	possibly damaging	0.92
R5988:Lrrc37	UTSW	11	103,506,722 (GRCm39)	unclassified	probably benign
R5992:Lrrc37	UTSW	11	103,504,618 (GRCm39)	missense	possibly damaging	0.81
R6114:Lrrc37	UTSW	11	103,508,617 (GRCm39)	unclassified	probably benign
R6154:Lrrc37	UTSW	11	103,504,969 (GRCm39)	missense	probably benign	0.33
R6233:Lrrc37	UTSW	11	103,504,214 (GRCm39)	missense	probably damaging	0.98
R6301:Lrrc37	UTSW	11	103,509,756 (GRCm39)	unclassified	probably benign
R6362:Lrrc37	UTSW	11	103,511,478 (GRCm39)	missense	unknown
R6471:Lrrc37	UTSW	11	103,510,448 (GRCm39)	unclassified	probably benign
R6806:Lrrc37	UTSW	11	103,511,950 (GRCm39)	missense	unknown
R6962:Lrrc37	UTSW	11	103,505,126 (GRCm39)	missense	possibly damaging	0.67
R6996:Lrrc37	UTSW	11	103,509,583 (GRCm39)	nonsense	probably null
R7028:Lrrc37	UTSW	11	103,505,363 (GRCm39)	missense	probably benign	0.28
R7034:Lrrc37	UTSW	11	103,506,638 (GRCm39)	unclassified	probably benign
R7036:Lrrc37	UTSW	11	103,506,638 (GRCm39)	unclassified	probably benign
R7113:Lrrc37	UTSW	11	103,509,625 (GRCm39)	missense	unknown
R7405:Lrrc37	UTSW	11	103,505,987 (GRCm39)	missense	probably benign	0.02
R7420:Lrrc37	UTSW	11	103,504,451 (GRCm39)	missense	probably benign	0.11
R7461:Lrrc37	UTSW	11	103,507,116 (GRCm39)	missense	unknown
R7544:Lrrc37	UTSW	11	103,506,274 (GRCm39)	missense	probably benign	0.01
R7613:Lrrc37	UTSW	11	103,507,116 (GRCm39)	missense	unknown
R7711:Lrrc37	UTSW	11	103,505,738 (GRCm39)	missense	probably benign	0.02
R7714:Lrrc37	UTSW	11	103,507,719 (GRCm39)	missense	unknown
R7747:Lrrc37	UTSW	11	103,505,081 (GRCm39)	missense	probably damaging	0.98
R7814:Lrrc37	UTSW	11	103,504,999 (GRCm39)	missense	possibly damaging	0.53
R8053:Lrrc37	UTSW	11	103,495,392 (GRCm39)	missense	unknown
R8063:Lrrc37	UTSW	11	103,433,087 (GRCm39)	missense	unknown
R8116:Lrrc37	UTSW	11	103,434,115 (GRCm39)	missense	unknown
R8124:Lrrc37	UTSW	11	103,511,257 (GRCm39)	missense	unknown
R8141:Lrrc37	UTSW	11	103,511,855 (GRCm39)	missense	unknown
R8163:Lrrc37	UTSW	11	103,506,688 (GRCm39)	missense	unknown
R8270:Lrrc37	UTSW	11	103,434,141 (GRCm39)	missense	unknown
R8348:Lrrc37	UTSW	11	103,511,726 (GRCm39)	missense	unknown
R8362:Lrrc37	UTSW	11	103,506,163 (GRCm39)	missense	probably benign	0.34
R8448:Lrrc37	UTSW	11	103,511,726 (GRCm39)	missense	unknown
R8465:Lrrc37	UTSW	11	103,506,947 (GRCm39)	unclassified	probably benign
R8473:Lrrc37	UTSW	11	103,434,266 (GRCm39)	missense	unknown
R8781:Lrrc37	UTSW	11	103,508,958 (GRCm39)	missense	unknown
R8821:Lrrc37	UTSW	11	103,510,470 (GRCm39)	missense	unknown
R8859:Lrrc37	UTSW	11	103,506,370 (GRCm39)	missense	unknown
R8888:Lrrc37	UTSW	11	103,509,656 (GRCm39)	missense	unknown
R8895:Lrrc37	UTSW	11	103,509,656 (GRCm39)	missense	unknown
R9083:Lrrc37	UTSW	11	103,509,830 (GRCm39)	missense	unknown
R9085:Lrrc37	UTSW	11	103,507,565 (GRCm39)	missense	unknown
R9088:Lrrc37	UTSW	11	103,511,762 (GRCm39)	missense	unknown
R9124:Lrrc37	UTSW	11	103,509,721 (GRCm39)	missense	unknown
R9177:Lrrc37	UTSW	11	103,508,263 (GRCm39)	missense	unknown
R9238:Lrrc37	UTSW	11	103,509,859 (GRCm39)	missense	unknown
R9267:Lrrc37	UTSW	11	103,495,406 (GRCm39)	missense	unknown
R9444:Lrrc37	UTSW	11	103,508,846 (GRCm39)	nonsense	probably null
R9517:Lrrc37	UTSW	11	103,433,416 (GRCm39)	missense	unknown
R9564:Lrrc37	UTSW	11	103,503,822 (GRCm39)	missense	unknown
R9632:Lrrc37	UTSW	11	103,433,252 (GRCm39)	missense	unknown
R9741:Lrrc37	UTSW	11	103,504,255 (GRCm39)	missense	possibly damaging	0.68
Z1176:Lrrc37	UTSW	11	103,504,507 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- CCCTAGGTCTAAAGGTCGATATG -3'
(R):5'- TGCCTAAAGAGATTATAGCGCAAAC -3'

Sequencing Primer
(F):5'- TCTAAAGGTCGATATGAAACATTGGG -3'
(R):5'- CCATTTGGGGGTGAAGAT -3'

Posted On

2016-08-04