Mutagenetix > Incidental Mutation

Incidental Mutation 'R6179:Lrrc7'

487921

Institutional Source

Beutler Lab

Gene Symbol

Lrrc7

Ensembl Gene

ENSMUSG00000028176

Gene Name

leucine rich repeat containing 7

Synonyms

densin

MMRRC Submission

044321-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.748) question?

Stock #

R6179 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

157788528-158267858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 158059069 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 13 (I13L)

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: I13L

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000101659
Gene: ENSMUSG00000028176
AA Change: I13L

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 damaging
Transcript: ENSMUST00000199890
AA Change: I13L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142440
Gene: ENSMUSG00000028176
AA Change: I13L

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: I13L

PolyPhen 2 Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142498
Gene: ENSMUSG00000028176
AA Change: I13L

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: I1L

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.5%

Validation Efficiency

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930426L09Rik	T	C	2: 19,003,653 (GRCm39)		probably benign	Het
4930590J08Rik	T	C	6: 91,919,311 (GRCm39)	S657P	probably damaging	Het
Abca9	T	C	11: 110,025,080 (GRCm39)	I988V	probably benign	Het
Acte1	A	G	7: 143,425,524 (GRCm39)	T58A	probably benign	Het
Aox4	T	A	1: 58,270,662 (GRCm39)	D280E	probably benign	Het
Apob	T	A	12: 8,055,060 (GRCm39)	L1353*	probably null	Het
Atp2b1	C	T	10: 98,858,691 (GRCm39)	R222C	probably damaging	Het
AW209491	T	G	13: 14,811,668 (GRCm39)	S174A	possibly damaging	Het
B930094E09Rik	G	C	18: 31,742,911 (GRCm39)		probably benign	Het
Cbln3	G	T	14: 56,121,517 (GRCm39)	P43Q	possibly damaging	Het
Ccdc181	A	T	1: 164,107,487 (GRCm39)	T57S	probably benign	Het
Ccr2	A	C	9: 123,906,008 (GRCm39)	N96T	probably damaging	Het
Cep131	T	C	11: 119,956,837 (GRCm39)	I868V	probably benign	Het
Chd2	A	G	7: 73,094,071 (GRCm39)	I1535T	probably damaging	Het
Chl1	A	T	6: 103,660,204 (GRCm39)	T377S	probably benign	Het
Cpeb3	A	G	19: 37,065,853 (GRCm39)	F439L	probably damaging	Het
Crb2	T	C	2: 37,680,269 (GRCm39)	V399A	probably damaging	Het
Cry2	C	T	2: 92,244,187 (GRCm39)	G329R	probably damaging	Het
Dock4	A	G	12: 40,781,868 (GRCm39)	E691G	probably benign	Het
Edil3	A	T	13: 88,970,108 (GRCm39)	H3L	probably benign	Het
Endod1	T	C	9: 14,268,757 (GRCm39)	I243V	probably benign	Het
Fpr3	G	A	17: 18,190,919 (GRCm39)	W63*	probably null	Het
Gtse1	T	G	15: 85,753,158 (GRCm39)	N424K	possibly damaging	Het
Kcnt1	G	A	2: 25,783,192 (GRCm39)	V252M	probably damaging	Het
Kifbp	G	A	10: 62,399,029 (GRCm39)	Q130*	probably null	Het
Lmbrd2	T	G	15: 9,149,262 (GRCm39)	I48M	probably damaging	Het
Mbd4	A	G	6: 115,822,386 (GRCm39)	S408P	probably benign	Het
Mphosph10	A	G	7: 64,028,529 (GRCm39)	V542A	possibly damaging	Het
Msto1	C	A	3: 88,818,254 (GRCm39)	R331L	probably damaging	Het
Myh10	G	A	11: 68,692,979 (GRCm39)	E1425K	probably damaging	Het
Nup43	T	C	10: 7,554,437 (GRCm39)	I340T	probably benign	Het
Or1j4	T	C	2: 36,740,846 (GRCm39)	S263P	possibly damaging	Het
Pcm1	T	A	8: 41,736,669 (GRCm39)	M884K	probably damaging	Het
Phf20	T	A	2: 156,140,573 (GRCm39)	L749H	probably damaging	Het
Pigp	T	C	16: 94,171,226 (GRCm39)	R22G	probably null	Het
Polr2b	T	C	5: 77,468,824 (GRCm39)	M200T	probably damaging	Het
Ppig	T	A	2: 69,580,471 (GRCm39)	D668E	unknown	Het
Prss3	G	A	6: 41,352,060 (GRCm39)	R68C	probably benign	Het
Retreg3	G	A	11: 100,994,721 (GRCm39)		probably benign	Het
Shank1	T	C	7: 44,006,630 (GRCm39)	F2116L	possibly damaging	Het
Spg21	T	C	9: 65,376,090 (GRCm39)	S33P	possibly damaging	Het
Spns3	A	G	11: 72,390,349 (GRCm39)	S432P	probably damaging	Het
Stra6	A	G	9: 58,042,452 (GRCm39)	E27G	probably damaging	Het
Tanc1	A	G	2: 59,673,320 (GRCm39)	Q1468R	probably benign	Het
Tbce	T	G	13: 14,194,362 (GRCm39)	E99A	probably benign	Het
Tmem106b	T	C	6: 13,084,252 (GRCm39)	V252A	probably damaging	Het
Trim10	A	G	17: 37,187,923 (GRCm39)	T380A	probably damaging	Het
Trim31	T	A	17: 37,220,501 (GRCm39)	D472E	probably damaging	Het
Vmn2r28	G	A	7: 5,491,003 (GRCm39)	Q415*	probably null	Het
Vwf	G	A	6: 125,626,252 (GRCm39)	C7Y	unknown	Het
Yeats2	C	T	16: 20,033,225 (GRCm39)	P1088L	probably benign	Het
Zfp40	C	A	17: 23,397,354 (GRCm39)	V48L	possibly 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
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
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'- AACTTGAGATTGACAGTGCGTC -3'
(R):5'- TGTGCCTGATTTCACATCTTGG -3'

Sequencing Primer
(F):5'- TTTTCAGAACTCACCTTAGGTAGC -3'
(R):5'- CCTGATTTCACATCTTGGGGCAG -3'

Posted On

2017-10-10