Mutagenetix > Incidental Mutation

Incidental Mutation 'R9068:Lrrc7'

689353

Institutional Source

Beutler Lab

Gene Symbol

Lrrc7

Ensembl Gene

ENSMUSG00000028176

Gene Name

leucine rich repeat containing 7

Synonyms

densin

MMRRC Submission

068892-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R9068 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157788528-158267858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 157946138 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 187 (K187R)

Ref Sequence

ENSEMBL: ENSMUSP00000142440 (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: K187R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000101659
Gene: ENSMUSG00000028176
AA Change: K187R

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: K187R

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000142440
Gene: ENSMUSG00000028176
AA Change: K187R

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: K187R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000142498
Gene: ENSMUSG00000028176
AA Change: K187R

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (57/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	C	6: 23,075,828 (GRCm39)	I770V	probably benign	Het
Abtb3	C	A	10: 85,223,762 (GRCm39)	N190K	unknown	Het
Actr10	T	C	12: 70,989,073 (GRCm39)	L64S	probably damaging	Het
Adam22	T	C	5: 8,177,343 (GRCm39)	T589A	probably benign	Het
Akr1b7	T	C	6: 34,395,977 (GRCm39)	S160P	probably damaging	Het
Ankrd52	C	T	10: 128,217,850 (GRCm39)	H277Y	probably damaging	Het
Cc2d1b	T	A	4: 108,482,062 (GRCm39)	L112Q	probably damaging	Het
Cd200r3	T	A	16: 44,773,750 (GRCm39)		probably benign	Het
Clec3a	A	G	8: 115,152,375 (GRCm39)	D127G	probably damaging	Het
Cnnm3	T	C	1: 36,551,962 (GRCm39)	L324P	probably damaging	Het
Cspp1	T	C	1: 10,147,469 (GRCm39)		probably null	Het
Cwf19l1	C	T	19: 44,124,274 (GRCm39)		probably benign	Het
Cyp26b1	G	A	6: 84,551,379 (GRCm39)	T470I	probably damaging	Het
Dedd2	A	G	7: 24,917,092 (GRCm39)	V110A	probably benign	Het
Dnah8	A	G	17: 30,975,729 (GRCm39)	I2866M	possibly damaging	Het
Dpp10	T	C	1: 123,360,667 (GRCm39)	Y286C	probably damaging	Het
Efna2	C	T	10: 80,024,524 (GRCm39)	P177L	probably damaging	Het
Fbxo46	A	G	7: 18,869,325 (GRCm39)		probably benign	Het
Gdpd5	A	T	7: 99,108,048 (GRCm39)	T542S	probably benign	Het
Gm136	T	G	4: 34,750,928 (GRCm39)	D115A	possibly damaging	Het
Gm7356	T	A	17: 14,221,687 (GRCm39)	K114I	possibly damaging	Het
Gpr180	G	T	14: 118,385,658 (GRCm39)	E157*	probably null	Het
Grk4	T	C	5: 34,905,653 (GRCm39)	I466T		Het
Hic1	A	G	11: 75,060,332 (GRCm39)	M5T	unknown	Het
Hmcn2	C	A	2: 31,303,685 (GRCm39)	N3058K	probably benign	Het
Htr5a	T	A	5: 28,055,799 (GRCm39)	H263Q	probably benign	Het
Map3k8	A	T	18: 4,340,557 (GRCm39)	H252Q	probably benign	Het
Muc4	CAC	CACTAC	16: 32,575,367 (GRCm39)		probably benign	Het
Naa16	A	T	14: 79,612,289 (GRCm39)	M233K	probably benign	Het
Napsa	A	T	7: 44,235,223 (GRCm39)	D336V	probably damaging	Het
Neurod1	T	A	2: 79,285,218 (GRCm39)	N55I	possibly damaging	Het
Or10d5	A	T	9: 39,862,087 (GRCm39)		probably benign	Het
Or4c115	A	T	2: 88,927,369 (GRCm39)	C301S	probably benign	Het
Or5an9	T	C	19: 12,187,703 (GRCm39)	F258L	probably damaging	Het
Or8b12	T	A	9: 37,657,963 (GRCm39)	C178S	probably damaging	Het
Pcdha8	G	T	18: 37,127,323 (GRCm39)	G602C	probably damaging	Het
Peg10	T	TCCG	6: 4,756,451 (GRCm39)		probably benign	Het
Pigr	G	A	1: 130,774,231 (GRCm39)	V404M	probably damaging	Het
Plch1	G	A	3: 63,612,036 (GRCm39)	P803L	probably damaging	Het
Ppp4r3b	T	A	11: 29,159,396 (GRCm39)	F583L	probably benign	Het
Rit2	A	T	18: 31,108,468 (GRCm39)	D172E	possibly damaging	Het
Skint4	C	T	4: 112,022,932 (GRCm39)	P476S	possibly damaging	Het
Slco2b1	A	G	7: 99,320,171 (GRCm39)	V353A	probably benign	Het
Slit3	A	G	11: 35,574,917 (GRCm39)	D1077G	probably damaging	Het
Sun2	A	G	15: 79,612,252 (GRCm39)	F478L	probably benign	Het
Syt6	C	A	3: 103,494,825 (GRCm39)	C263*	probably null	Het
Tfpi	C	A	2: 84,273,235 (GRCm39)	L229F	unknown	Het
Tmem131l	A	T	3: 83,817,775 (GRCm39)	C1242S	probably benign	Het
Ttc3	T	A	16: 94,204,219 (GRCm39)	W280R	probably damaging	Het
Uncx	A	G	5: 139,532,573 (GRCm39)	K213E	possibly damaging	Het
Usp24	T	C	4: 106,232,875 (GRCm39)	L887P	probably benign	Het
Vmn1r178	A	T	7: 23,593,404 (GRCm39)	I151F	probably damaging	Het
Vmn2r50	G	T	7: 9,772,061 (GRCm39)	Q547K	possibly damaging	Het
Vwf	A	G	6: 125,625,792 (GRCm39)		probably benign	Het
Wdfy3	A	T	5: 102,000,451 (GRCm39)	V2973D	probably benign	Het
Zbtb49	T	C	5: 38,358,289 (GRCm39)	M655V	probably benign	Het
Zc3h3	C	T	15: 75,711,499 (GRCm39)	A321T	probably benign	Het
Zeb2	T	A	2: 45,000,040 (GRCm39)	R65W	possibly damaging	Het
Zfp541	A	G	7: 15,812,376 (GRCm39)	E343G	probably damaging	Het
Zfp775	C	A	6: 48,597,151 (GRCm39)	R342S	probably damaging	Het
Zwilch	A	G	9: 64,075,942 (GRCm39)	F27L	probably benign	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
R2698:Lrrc7	UTSW	3	157,841,028 (GRCm39)	missense	probably benign	0.22
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
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'- CCAGTTCCTGTGGTTTACTATACAG -3'
(R):5'- ACCCAGATGGCTGTTCACATG -3'

Sequencing Primer
(F):5'- CCTGTGGTTTACTATACAGTGAAAC -3'
(R):5'- AGATGGCTGTTCACATGTTTCTC -3'

Posted On

2021-11-19