Mutagenetix > Incidental Mutation

Incidental Mutation 'R3011:Lrrc37'

257513

Institutional Source

Beutler Lab

Gene Symbol

Lrrc37

Ensembl Gene

ENSMUSG00000034239

Gene Name

leucine rich repeat containing 37

Synonyms

LOC380730, Gm884

MMRRC Submission

040533-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.257) question?

Stock #

R3011 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103425403-103511966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 103503929 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 504 (T504S)

Ref Sequence

ENSEMBL: ENSMUSP00000129662 (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: T2680S

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

SMART Domains

Protein: ENSMUSP00000058511
Gene: ENSMUSG00000034239
AA Change: T2680S

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

possibly damaging
Transcript: ENSMUST00000167262
AA Change: T504S

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129662
Gene: ENSMUSG00000034239
AA Change: T504S

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (29/29)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	A	C	16: 38,422,269 (GRCm39)	C1266G	possibly damaging	Het
Brme1	C	A	8: 84,893,539 (GRCm39)	Y235*	probably null	Het
Cers5	A	G	15: 99,670,598 (GRCm39)		probably benign	Het
Clasp2	C	T	9: 113,730,581 (GRCm39)	T905M	probably damaging	Het
Clec16a	A	G	16: 10,428,975 (GRCm39)	N469S	probably benign	Het
Commd3	T	A	2: 18,679,499 (GRCm39)	V128D	probably damaging	Het
Cped1	A	G	6: 22,088,695 (GRCm39)	T253A	probably damaging	Het
Dnajc5b	A	T	3: 19,600,966 (GRCm39)	Y21F	probably damaging	Het
Fhip2a	T	A	19: 57,373,720 (GRCm39)	L660Q	probably damaging	Het
Gm14403	A	G	2: 177,200,786 (GRCm39)	D244G	probably benign	Het
Gm5414	T	C	15: 101,534,047 (GRCm39)	D312G	probably damaging	Het
Ifi204	T	C	1: 173,579,217 (GRCm39)	S543G	probably benign	Het
Itga11	T	A	9: 62,604,262 (GRCm39)	I50N	probably damaging	Het
Lct	C	T	1: 128,229,109 (GRCm39)	V795I	possibly damaging	Het
Map2	A	G	1: 66,453,771 (GRCm39)	D887G	probably damaging	Het
Mgat4e	T	A	1: 134,469,846 (GRCm39)	D66V	possibly damaging	Het
Nqo1	C	T	8: 108,115,743 (GRCm39)	R178H	probably benign	Het
Or13e8	G	T	4: 43,696,624 (GRCm39)	A183E	probably damaging	Het
Or5h22	A	G	16: 58,895,350 (GRCm39)	V31A	probably benign	Het
Otof	G	A	5: 30,540,184 (GRCm39)	A999V	probably damaging	Het
Phf20	A	G	2: 156,129,946 (GRCm39)	D506G	probably benign	Het
Pth2r	C	T	1: 65,376,147 (GRCm39)	H97Y	probably benign	Het
Snx18	G	A	13: 113,753,422 (GRCm39)	Q504*	probably null	Het
Sppl2c	C	T	11: 104,078,141 (GRCm39)	P314S	probably benign	Het
Srgap2	T	A	1: 131,238,329 (GRCm39)	Q520L	probably damaging	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tlr4	A	T	4: 66,757,491 (GRCm39)	K95*	probably null	Het
Tmem59l	A	T	8: 70,938,887 (GRCm39)	C96S	probably damaging	Het
Tmtc3	G	T	10: 100,283,444 (GRCm39)	P704T	possibly damaging	Het
Upp2	T	C	2: 58,680,107 (GRCm39)	V293A	probably damaging	Het
Vps72	A	G	3: 95,026,585 (GRCm39)	K177E	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
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
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'- CCATTTTGGGCTGAGATGAAC -3'
(R):5'- ACGGCACATTCTGAAGTTCC -3'

Sequencing Primer
(F):5'- TTTTGGGCTGAGATGAACACACAAC -3'
(R):5'- CCACAGGCTATATATTCTGAAGTCC -3'

Posted On

2015-01-11