Mutagenetix > Incidental Mutation

Incidental Mutation 'R2698:Lrrc7'

251292

Institutional Source

Beutler Lab

Gene Symbol

Lrrc7

Ensembl Gene

ENSMUSG00000028176

Gene Name

leucine rich repeat containing 7

Synonyms

densin

MMRRC Submission

040436-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R2698 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

157788528-158267858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 157841028 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1384 (T1384S)

Ref Sequence

ENSEMBL: ENSMUSP00000101659 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106044] [ENSMUST00000199890] [ENSMUST00000200137]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000106044
AA Change: T1384S

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000101659
Gene: ENSMUSG00000028176
AA Change: T1384S

Domain	Start	End	E-Value	Type
LRR	53	73	3.65e0	SMART
LRR	96	118	2.2e1	SMART
LRR	142	164	4.21e1	SMART
LRR	165	187	7.36e0	SMART
LRR	188	210	7.05e-1	SMART
LRR	211	233	3.09e1	SMART
LRR	234	257	4.21e1	SMART
LRR	258	279	2.61e2	SMART
LRR	280	303	3.52e-1	SMART
LRR	326	349	1.99e0	SMART
LRR	372	394	2.63e0	SMART
low complexity region	466	476	N/A	INTRINSIC
low complexity region	692	705	N/A	INTRINSIC
Blast:PDZ	708	736	1e-5	BLAST
low complexity region	787	797	N/A	INTRINSIC
low complexity region	864	878	N/A	INTRINSIC
Blast:PDZ	1349	1378	2e-11	BLAST
PDZ	1460	1540	1.33e-19	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199890
AA Change: T1297S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142440
Gene: ENSMUSG00000028176
AA Change: T1297S

Domain	Start	End	E-Value	Type
LRR	53	73	3.65e0	SMART
LRR	96	118	2.2e1	SMART
LRR	142	164	4.21e1	SMART
LRR	165	187	7.36e0	SMART
LRR	188	210	7.05e-1	SMART
LRR	211	233	3.09e1	SMART
LRR	234	257	4.21e1	SMART
LRR	258	279	2.61e2	SMART
LRR	280	303	3.52e-1	SMART
LRR	326	349	1.99e0	SMART
LRR	372	394	2.63e0	SMART
low complexity region	466	476	N/A	INTRINSIC
low complexity region	692	705	N/A	INTRINSIC
Blast:PDZ	708	736	9e-6	BLAST
low complexity region	787	797	N/A	INTRINSIC
low complexity region	864	878	N/A	INTRINSIC
Blast:PDZ	1328	1364	1e-15	BLAST
low complexity region	1374	1387	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200137
AA Change: T1337S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000142498
Gene: ENSMUSG00000028176
AA Change: T1337S

Domain	Start	End	E-Value	Type
LRR	52	69	7.6e-1	SMART
LRR	73	92	4.2e-1	SMART
LRR	96	115	3.4e-1	SMART
LRR	142	164	1.8e-1	SMART
LRR	165	184	1.5e-1	SMART
LRR	188	207	2e-2	SMART
LRR	211	233	1.3e-1	SMART
LRR	234	257	1.7e-1	SMART
LRR	257	276	1e0	SMART
LRR	280	299	3.1e-2	SMART
LRR	303	322	6.6e-1	SMART
LRR	326	345	2.1e-1	SMART
LRR	372	391	1.2e-1	SMART
low complexity region	466	476	N/A	INTRINSIC
low complexity region	692	705	N/A	INTRINSIC
Blast:PDZ	708	736	1e-5	BLAST
low complexity region	787	797	N/A	INTRINSIC
low complexity region	864	878	N/A	INTRINSIC
Blast:PDZ	1302	1331	2e-11	BLAST
PDZ	1413	1493	6.4e-22	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000200196
AA Change: T1372S

Meta Mutation Damage Score

0.0725

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (63/63)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit limb grasping, reduced long term depression, increased anxiety, increased aggression towards other mice, impaired spatial memory, decreased prepulse inhibition, decreased nesting building behavior, and abnormal dendritic spines. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	T	C	6: 142,578,862 (GRCm39)	R901G	possibly damaging	Het
Abhd18	T	A	3: 40,885,401 (GRCm39)	M262K	probably benign	Het
Ano2	C	A	6: 125,689,309 (GRCm39)	L145I	probably benign	Het
Ckap5	T	C	2: 91,408,426 (GRCm39)	W874R	probably damaging	Het
Cox4i1	G	T	8: 121,396,102 (GRCm39)		probably benign	Het
Cwc27	A	T	13: 104,943,259 (GRCm39)	N94K	probably damaging	Het
Dcaf11	T	C	14: 55,804,342 (GRCm39)	S372P	probably damaging	Het
Dpysl4	A	G	7: 138,676,681 (GRCm39)	N356S	probably damaging	Het
Dusp8	A	G	7: 141,635,701 (GRCm39)		probably benign	Het
Erc2	G	A	14: 27,993,662 (GRCm39)	V894M	probably benign	Het
Fbxo28	T	A	1: 182,144,719 (GRCm39)	I282F	probably benign	Het
Fsd2	T	C	7: 81,195,608 (GRCm39)	T434A	probably damaging	Het
Gabra4	T	C	5: 71,729,421 (GRCm39)	H453R	probably benign	Het
Glrx	T	A	13: 75,988,065 (GRCm39)		probably null	Het
Gm11541	A	T	11: 94,586,441 (GRCm39)	L102*	probably null	Het
Gm5113	T	A	7: 29,878,150 (GRCm39)	Y79*	probably null	Het
Gpr87	T	A	3: 59,086,587 (GRCm39)	N306I	probably damaging	Het
Hydin	T	A	8: 111,336,561 (GRCm39)	Y5113N	possibly damaging	Het
Iqsec3	C	T	6: 121,390,430 (GRCm39)		probably benign	Het
Kbtbd8	C	A	6: 95,103,570 (GRCm39)	Y406*	probably null	Het
Lamb1	G	T	12: 31,348,882 (GRCm39)	R590L	probably benign	Het
Lin54	A	T	5: 100,628,109 (GRCm39)	N31K	probably damaging	Het
Lnpk	T	C	2: 74,367,845 (GRCm39)	E165G	probably damaging	Het
Lrp4	C	T	2: 91,305,557 (GRCm39)	R276C	probably damaging	Het
Mia2	T	C	12: 59,217,780 (GRCm39)		probably null	Het
Morc2a	T	C	11: 3,635,400 (GRCm39)	V797A	probably damaging	Het
Mrps23	T	C	11: 88,096,193 (GRCm39)		probably benign	Het
Muc17	A	T	5: 137,175,484 (GRCm39)	I62K	probably damaging	Het
Nlrp4g	T	A	9: 124,349,630 (GRCm38)		noncoding transcript	Het
Nptx1	A	T	11: 119,435,669 (GRCm39)		probably benign	Het
Or1j20	T	A	2: 36,760,208 (GRCm39)	I210K	possibly damaging	Het
Pabpc1l	T	G	2: 163,886,302 (GRCm39)		probably null	Het
Pdcd6ip	A	T	9: 113,503,575 (GRCm39)		probably null	Het
Plcg1	A	G	2: 160,603,383 (GRCm39)	T1185A	possibly damaging	Het
Plcxd1	A	G	5: 110,250,349 (GRCm39)	Q230R	probably benign	Het
Psme4	T	A	11: 30,824,282 (GRCm39)		probably null	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Ptch1	T	A	13: 63,690,038 (GRCm39)	N320Y	probably damaging	Het
Qars1	G	A	9: 108,385,642 (GRCm39)	V60I	possibly damaging	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rhag	T	C	17: 41,147,367 (GRCm39)	S410P	probably damaging	Het
Rnf213	A	G	11: 119,300,970 (GRCm39)	K297E	probably benign	Het
Rps6ka4	T	C	19: 6,814,720 (GRCm39)	E294G	probably benign	Het
Scaf4	T	A	16: 90,041,244 (GRCm39)	I695F	unknown	Het
Scrn2	T	C	11: 96,923,122 (GRCm39)		probably benign	Het
Scx	T	A	15: 76,342,363 (GRCm39)	C188S	probably damaging	Het
Sdk1	G	T	5: 142,197,805 (GRCm39)	V1893L	possibly damaging	Het
Sema5a	C	A	15: 32,673,546 (GRCm39)	Q795K	probably damaging	Het
Slc24a3	A	G	2: 145,455,487 (GRCm39)	S459G	probably benign	Het
Smurf1	A	G	5: 144,820,372 (GRCm39)		probably benign	Het
Taar4	T	C	10: 23,837,328 (GRCm39)	Y313H	probably damaging	Het
Tmprss11c	A	G	5: 86,419,322 (GRCm39)	F79S	probably damaging	Het
Tnfaip8l2	T	A	3: 95,047,672 (GRCm39)	I64F	possibly damaging	Het
Trbv13-1	A	G	6: 41,093,372 (GRCm39)	T102A	probably damaging	Het
Trpa1	A	T	1: 14,976,222 (GRCm39)	N160K	probably damaging	Het
Ttc22	A	G	4: 106,496,435 (GRCm39)	Y495C	probably benign	Het
Usp50	A	G	2: 126,619,949 (GRCm39)	I121T	probably damaging	Het
Vmn2r117	A	G	17: 23,678,885 (GRCm39)	S780P	probably damaging	Het
Vmn2r66	A	T	7: 84,644,607 (GRCm39)	V601D	probably damaging	Het
Wapl	G	A	14: 34,413,734 (GRCm39)	A199T	probably benign	Het
Zfp658	A	G	7: 43,222,969 (GRCm39)	T415A	possibly damaging	Het
Zfp760	C	T	17: 21,939,935 (GRCm39)	T9I	probably damaging	Het
Zfp998	A	G	13: 66,581,495 (GRCm39)	S59P	probably damaging	Het

Other mutations in Lrrc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00594:Lrrc7	APN	3	157,892,647 (GRCm39)	missense	probably benign	0.07
IGL00644:Lrrc7	APN	3	157,908,005 (GRCm39)	nonsense	probably null
IGL00822:Lrrc7	APN	3	157,891,111 (GRCm39)	missense	probably damaging	0.99
IGL00927:Lrrc7	APN	3	157,866,727 (GRCm39)	missense	possibly damaging	0.94
IGL00946:Lrrc7	APN	3	157,866,993 (GRCm39)	missense	probably benign	0.07
IGL00948:Lrrc7	APN	3	157,867,194 (GRCm39)	missense	probably damaging	1.00
IGL01838:Lrrc7	APN	3	157,891,100 (GRCm39)	missense	probably damaging	1.00
IGL01874:Lrrc7	APN	3	157,946,080 (GRCm39)	splice site	probably benign
IGL02514:Lrrc7	APN	3	157,865,929 (GRCm39)	missense	probably damaging	0.96
IGL02545:Lrrc7	APN	3	157,891,011 (GRCm39)	splice site	probably benign
IGL02665:Lrrc7	APN	3	157,866,742 (GRCm39)	missense	probably damaging	0.99
IGL03129:Lrrc7	APN	3	157,866,696 (GRCm39)	missense	probably benign	0.02
N/A:Lrrc7	UTSW	3	157,865,977 (GRCm39)	missense	probably benign
R0021:Lrrc7	UTSW	3	157,866,298 (GRCm39)	missense	probably damaging	1.00
R0041:Lrrc7	UTSW	3	157,869,897 (GRCm39)	splice site	probably benign
R0255:Lrrc7	UTSW	3	157,866,475 (GRCm39)	nonsense	probably null
R0278:Lrrc7	UTSW	3	157,885,432 (GRCm39)	missense	possibly damaging	0.96
R0409:Lrrc7	UTSW	3	157,867,063 (GRCm39)	missense	possibly damaging	0.59
R0612:Lrrc7	UTSW	3	157,869,990 (GRCm39)	missense	probably damaging	0.98
R0866:Lrrc7	UTSW	3	157,869,903 (GRCm39)	splice site	probably benign
R1077:Lrrc7	UTSW	3	157,866,780 (GRCm39)	missense	probably damaging	1.00
R1103:Lrrc7	UTSW	3	157,854,343 (GRCm39)	splice site	probably benign
R1157:Lrrc7	UTSW	3	157,865,892 (GRCm39)	missense	probably damaging	1.00
R1187:Lrrc7	UTSW	3	157,866,039 (GRCm39)	missense	probably damaging	1.00
R1301:Lrrc7	UTSW	3	157,840,968 (GRCm39)	missense	probably benign	0.20
R1433:Lrrc7	UTSW	3	157,882,943 (GRCm39)	missense	probably damaging	1.00
R1450:Lrrc7	UTSW	3	157,892,681 (GRCm39)	missense	possibly damaging	0.62
R1595:Lrrc7	UTSW	3	157,882,914 (GRCm39)	nonsense	probably null
R1659:Lrrc7	UTSW	3	157,867,045 (GRCm39)	missense	probably damaging	1.00
R1693:Lrrc7	UTSW	3	157,790,170 (GRCm39)	missense	possibly damaging	0.95
R1774:Lrrc7	UTSW	3	157,865,929 (GRCm39)	missense	possibly damaging	0.88
R2273:Lrrc7	UTSW	3	157,892,696 (GRCm39)	missense	probably damaging	1.00
R2276:Lrrc7	UTSW	3	157,885,429 (GRCm39)	missense	probably damaging	1.00
R2302:Lrrc7	UTSW	3	157,840,881 (GRCm39)	missense	probably damaging	0.99
R2326:Lrrc7	UTSW	3	157,876,298 (GRCm39)	missense	probably damaging	1.00
R2371:Lrrc7	UTSW	3	157,866,697 (GRCm39)	missense	probably damaging	0.99
R2383:Lrrc7	UTSW	3	157,869,593 (GRCm39)	missense	probably benign
R2679:Lrrc7	UTSW	3	157,880,745 (GRCm39)	nonsense	probably null
R2858:Lrrc7	UTSW	3	157,867,362 (GRCm39)	missense	probably damaging	0.99
R3758:Lrrc7	UTSW	3	157,869,602 (GRCm39)	missense	probably damaging	1.00
R3791:Lrrc7	UTSW	3	157,869,593 (GRCm39)	missense	probably benign
R3805:Lrrc7	UTSW	3	157,891,130 (GRCm39)	missense	probably benign	0.10
R3806:Lrrc7	UTSW	3	157,891,130 (GRCm39)	missense	probably benign	0.10
R3807:Lrrc7	UTSW	3	157,891,130 (GRCm39)	missense	probably benign	0.10
R3892:Lrrc7	UTSW	3	157,866,333 (GRCm39)	missense	probably benign	0.08
R3912:Lrrc7	UTSW	3	157,997,589 (GRCm39)	missense	probably damaging	1.00
R3913:Lrrc7	UTSW	3	157,997,589 (GRCm39)	missense	probably damaging	1.00
R3963:Lrrc7	UTSW	3	157,866,042 (GRCm39)	missense	probably damaging	1.00
R4665:Lrrc7	UTSW	3	158,024,045 (GRCm39)	critical splice donor site	probably benign
R4666:Lrrc7	UTSW	3	158,024,045 (GRCm39)	critical splice donor site	probably benign
R4671:Lrrc7	UTSW	3	157,908,132 (GRCm39)	critical splice acceptor site	probably null
R4688:Lrrc7	UTSW	3	157,854,242 (GRCm39)	missense	probably damaging	1.00
R4725:Lrrc7	UTSW	3	158,024,045 (GRCm39)	critical splice donor site	probably benign
R4726:Lrrc7	UTSW	3	158,024,045 (GRCm39)	critical splice donor site	probably benign
R4728:Lrrc7	UTSW	3	158,024,045 (GRCm39)	critical splice donor site	probably benign
R4783:Lrrc7	UTSW	3	157,832,850 (GRCm39)	critical splice donor site	probably null
R4867:Lrrc7	UTSW	3	157,866,642 (GRCm39)	missense	probably damaging	1.00
R4907:Lrrc7	UTSW	3	157,866,877 (GRCm39)	missense	probably damaging	1.00
R5032:Lrrc7	UTSW	3	157,887,217 (GRCm39)	missense	possibly damaging	0.85
R5107:Lrrc7	UTSW	3	157,867,533 (GRCm39)	missense	probably damaging	1.00
R5295:Lrrc7	UTSW	3	157,876,376 (GRCm39)	missense	probably damaging	1.00
R5348:Lrrc7	UTSW	3	157,880,963 (GRCm39)	missense	probably benign	0.02
R5468:Lrrc7	UTSW	3	158,024,073 (GRCm39)	missense	probably damaging	1.00
R5778:Lrrc7	UTSW	3	157,876,380 (GRCm39)	missense	probably damaging	1.00
R5897:Lrrc7	UTSW	3	157,869,990 (GRCm39)	missense	probably damaging	0.98
R6179:Lrrc7	UTSW	3	158,059,069 (GRCm39)	missense	probably damaging	0.99
R6312:Lrrc7	UTSW	3	157,866,246 (GRCm39)	missense	probably benign	0.04
R6313:Lrrc7	UTSW	3	157,866,373 (GRCm39)	missense	probably damaging	1.00
R6366:Lrrc7	UTSW	3	157,841,012 (GRCm39)	missense	probably benign	0.04
R6389:Lrrc7	UTSW	3	157,891,063 (GRCm39)	missense	probably damaging	1.00
R6638:Lrrc7	UTSW	3	157,840,940 (GRCm39)	missense	probably benign	0.20
R6956:Lrrc7	UTSW	3	157,994,668 (GRCm39)	missense	probably benign	0.02
R6969:Lrrc7	UTSW	3	157,862,550 (GRCm39)	missense	probably benign	0.19
R7073:Lrrc7	UTSW	3	157,832,884 (GRCm39)	missense	probably damaging	1.00
R7313:Lrrc7	UTSW	3	157,866,111 (GRCm39)	missense	probably damaging	1.00
R7365:Lrrc7	UTSW	3	157,903,798 (GRCm39)	missense	probably damaging	1.00
R7398:Lrrc7	UTSW	3	157,997,595 (GRCm39)	nonsense	probably null
R7403:Lrrc7	UTSW	3	157,854,311 (GRCm39)	nonsense	probably null
R7407:Lrrc7	UTSW	3	157,840,878 (GRCm39)	missense	probably damaging	1.00
R7427:Lrrc7	UTSW	3	157,903,778 (GRCm39)	missense	probably benign	0.06
R7453:Lrrc7	UTSW	3	157,891,046 (GRCm39)	missense	probably benign	0.00
R7461:Lrrc7	UTSW	3	157,892,657 (GRCm39)	missense	probably benign	0.00
R7807:Lrrc7	UTSW	3	157,866,124 (GRCm39)	missense	probably damaging	1.00
R7872:Lrrc7	UTSW	3	158,059,099 (GRCm39)	missense	probably damaging	0.99
R8215:Lrrc7	UTSW	3	157,915,387 (GRCm39)	missense	probably benign
R8367:Lrrc7	UTSW	3	157,908,007 (GRCm39)	missense	possibly damaging	0.80
R8867:Lrrc7	UTSW	3	157,867,521 (GRCm39)	missense	probably damaging	0.99
R8880:Lrrc7	UTSW	3	157,867,381 (GRCm39)	missense	probably damaging	0.99
R8941:Lrrc7	UTSW	3	157,869,593 (GRCm39)	missense	probably benign
R8958:Lrrc7	UTSW	3	157,946,138 (GRCm39)	missense	probably benign	0.02
R9068:Lrrc7	UTSW	3	157,946,138 (GRCm39)	missense	probably benign	0.02
R9069:Lrrc7	UTSW	3	157,946,138 (GRCm39)	missense	probably benign	0.02
R9180:Lrrc7	UTSW	3	157,867,011 (GRCm39)	missense	possibly damaging	0.61
R9193:Lrrc7	UTSW	3	158,059,011 (GRCm39)	nonsense	probably null
R9309:Lrrc7	UTSW	3	157,915,361 (GRCm39)	nonsense	probably null
R9418:Lrrc7	UTSW	3	157,908,023 (GRCm39)	missense	possibly damaging	0.66
R9474:Lrrc7	UTSW	3	157,841,028 (GRCm39)	missense	probably benign	0.22
R9515:Lrrc7	UTSW	3	157,867,105 (GRCm39)	missense	probably damaging	1.00
R9635:Lrrc7	UTSW	3	157,946,138 (GRCm39)	missense	probably benign	0.02
R9639:Lrrc7	UTSW	3	157,946,138 (GRCm39)	missense	probably benign	0.02
R9682:Lrrc7	UTSW	3	157,882,954 (GRCm39)	missense	possibly damaging	0.92
R9731:Lrrc7	UTSW	3	157,880,888 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AACCGTCCATACTCCTCTGC -3'
(R):5'- GGTACCAGTACAAACATCTCCAC -3'

Sequencing Primer
(F):5'- GCCCTTTCGTTTGAATTAAGCAC -3'
(R):5'- TCTCCACCAGCCCCATG -3'

Posted On

2014-12-04