Mutagenetix > Incidental Mutation

Incidental Mutation 'R7420:Lrrc37'

575622

Institutional Source

Beutler Lab

Gene Symbol

Lrrc37

Ensembl Gene

ENSMUSG00000034239

Gene Name

leucine rich repeat containing 37

Synonyms

LOC380730, Gm884

MMRRC Submission

045498-MU

Accession Numbers

Essential gene?

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

Stock #

R7420 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103425403-103511966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103504451 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 2506 (S2506T)

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: S2506T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000058511
Gene: ENSMUSG00000034239
AA Change: S2506T

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: S330T

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000129662
Gene: ENSMUSG00000034239
AA Change: S330T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,141,303 (GRCm39)	V6A	probably benign	Het
Adam29	T	A	8: 56,325,933 (GRCm39)	M174L	probably benign	Het
Ano1	G	A	7: 144,209,378 (GRCm39)	T274I	probably benign	Het
Atad5	A	T	11: 79,986,688 (GRCm39)	T592S	probably benign	Het
Bud13	C	T	9: 46,199,113 (GRCm39)	P158L	probably benign	Het
Card19	T	C	13: 49,361,613 (GRCm39)	Y6C	probably damaging	Het
Cd36	C	G	5: 17,993,272 (GRCm39)	V393L	probably benign	Het
Cd79a	A	T	7: 24,596,971 (GRCm39)	R9*	probably null	Het
Cep164	T	C	9: 45,679,840 (GRCm39)	H1131R	probably benign	Het
Chia1	T	A	3: 106,037,980 (GRCm39)	S321T	probably benign	Het
Chrnd	T	A	1: 87,122,543 (GRCm39)	V217E	possibly damaging	Het
Cmtm7	T	C	9: 114,592,462 (GRCm39)		probably null	Het
Csn1s2a	T	C	5: 87,927,865 (GRCm39)	S60P	possibly damaging	Het
Defa30	T	A	8: 21,625,471 (GRCm39)	N78K	probably benign	Het
Dnah2	C	T	11: 69,369,623 (GRCm39)	A1618T	possibly damaging	Het
Dnah9	A	G	11: 66,008,233 (GRCm39)		probably null	Het
Epn1	A	T	7: 5,100,687 (GRCm39)	T546S	possibly damaging	Het
Fam135a	A	G	1: 24,051,567 (GRCm39)	S1443P	possibly damaging	Het
Fam13b	G	T	18: 34,627,664 (GRCm39)	P179Q	probably damaging	Het
Git2	T	C	5: 114,868,431 (GRCm39)	T647A	probably benign	Het
Gli2	T	C	1: 118,763,669 (GRCm39)	N1494S	probably benign	Het
Gm4952	G	A	19: 12,604,265 (GRCm39)	G226R	probably damaging	Het
Gm5460	T	A	14: 33,758,714 (GRCm39)	F156I	probably damaging	Het
Heatr5b	A	T	17: 79,115,909 (GRCm39)	V849D	probably damaging	Het
Hepacam	A	G	9: 37,292,005 (GRCm39)	D111G	probably benign	Het
Hk1	T	C	10: 62,105,761 (GRCm39)	D895G	probably damaging	Het
Irag1	A	T	7: 110,470,680 (GRCm39)	Y678*	probably null	Het
Kdm5b	T	C	1: 134,532,235 (GRCm39)	V471A	probably benign	Het
Klhdc8b	A	G	9: 108,326,317 (GRCm39)	Y239H	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt82	T	C	15: 101,454,022 (GRCm39)	T229A	probably damaging	Het
Lztr1	T	C	16: 17,341,993 (GRCm39)	L656P	probably damaging	Het
Mfrp	T	C	9: 44,013,773 (GRCm39)		probably benign	Het
Nfe2l1	A	G	11: 96,710,739 (GRCm39)	S497P	probably benign	Het
Or2ag1b	G	A	7: 106,288,227 (GRCm39)	A237V	possibly damaging	Het
Or8b44	G	T	9: 38,410,359 (GRCm39)	L131F	probably benign	Het
Otud4	C	A	8: 80,390,737 (GRCm39)	T418K	probably benign	Het
Pcdhb21	A	G	18: 37,648,256 (GRCm39)	N462D	probably damaging	Het
Plch1	A	G	3: 63,630,278 (GRCm39)	S497P	probably damaging	Het
Plekha8	T	C	6: 54,590,179 (GRCm39)	V48A	probably damaging	Het
Ppp2r5d	A	T	17: 46,998,507 (GRCm39)	F121L	probably null	Het
Prxl2c	C	T	13: 64,445,131 (GRCm39)	G164D	possibly damaging	Het
Sdad1	G	A	5: 92,453,596 (GRCm39)	A64V	possibly damaging	Het
Selenop	G	T	15: 3,309,052 (GRCm39)	A335S	probably damaging	Het
Shc3	T	C	13: 51,585,271 (GRCm39)	N448S	probably benign	Het
Shcbp1	G	A	8: 4,798,737 (GRCm39)	T394I	probably benign	Het
Slc39a11	G	T	11: 113,138,648 (GRCm39)	A276E	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Speg	T	A	1: 75,407,549 (GRCm39)	S3185R	probably damaging	Het
Tmem100	A	T	11: 89,926,579 (GRCm39)	*135Y	probably null	Het
Ube2o	A	T	11: 116,430,898 (GRCm39)	F1001I	probably damaging	Het
Usp7	T	C	16: 8,527,985 (GRCm39)	D148G	probably benign	Het
Vmn2r16	A	G	5: 109,511,736 (GRCm39)	T648A	probably damaging	Het
Vmn2r67	A	G	7: 84,785,944 (GRCm39)	L687P	possibly damaging	Het
Zcchc14	ACCGCCGCCGCCGCCGCC	ACCGCCGCCGCCGCC	8: 122,378,530 (GRCm39)		probably benign	Het
Zfp800	A	G	6: 28,243,718 (GRCm39)	S416P	probably benign	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
R5334:Lrrc37	UTSW	11	103,504,699 (GRCm39)	missense	probably benign	0.18
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
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'- TGAAGGATGAGCTGGAGTCTCC -3'
(R):5'- TGCAGAACCTTCAATGGGAAC -3'

Sequencing Primer
(F):5'- TCCATTATGGAAGAATGTTTAGCC -3'
(R):5'- TGGGAACAGTAGTTGATCTAGATC -3'

Posted On

2019-10-07