Mutagenetix > Incidental Mutation

Incidental Mutation 'R8215:Lrrc7'

636353

Institutional Source

Beutler Lab

Gene Symbol

Lrrc7

Ensembl Gene

ENSMUSG00000028176

Gene Name

leucine rich repeat containing 7

Synonyms

densin

MMRRC Submission

067657-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R8215 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157788528-158267858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 157915387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 209 (D209E)

Ref Sequence

ENSEMBL: ENSMUSP00000142498 (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: D209E

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

SMART Domains

Protein: ENSMUSP00000101659
Gene: ENSMUSG00000028176
AA Change: D209E

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: D209E

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

SMART Domains

Protein: ENSMUSP00000142440
Gene: ENSMUSG00000028176
AA Change: D209E

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: D209E

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

SMART Domains

Protein: ENSMUSP00000142498
Gene: ENSMUSG00000028176
AA Change: D209E

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: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.8%

Validation Efficiency

100% (59/59)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	G	T	15: 81,949,301 (GRCm39)	R1066L	probably benign	Het
Abca14	A	C	7: 119,893,425 (GRCm39)	I1292L	probably benign	Het
Adam34l	T	A	8: 44,079,538 (GRCm39)	T229S	probably benign	Het
Adamtsl1	T	G	4: 86,261,382 (GRCm39)	F1206V	probably benign	Het
Agl	T	C	3: 116,582,293 (GRCm39)	H243R	probably damaging	Het
Btn2a2	A	C	13: 23,666,040 (GRCm39)	L264R	probably damaging	Het
Ccdc33	A	T	9: 57,939,995 (GRCm39)	S749T	probably benign	Het
Cd55b	CTTTT	CTTTTT	1: 130,347,337 (GRCm39)		probably null	Het
Cdh8	A	G	8: 99,757,498 (GRCm39)	I700T	possibly damaging	Het
Cfap65	A	G	1: 74,949,902 (GRCm39)	L1201P	probably damaging	Het
Chsy3	C	T	18: 59,308,941 (GRCm39)	Q65*	probably null	Het
Clic5	T	A	17: 44,586,228 (GRCm39)	L239*	probably null	Het
Corin	T	C	5: 72,462,361 (GRCm39)	D957G	probably damaging	Het
Cped1	A	T	6: 22,132,277 (GRCm39)	Y486F	probably damaging	Het
Csnk1g3	C	T	18: 54,081,151 (GRCm39)	T374M	probably benign	Het
D930020B18Rik	T	A	10: 121,503,429 (GRCm39)	C201*	probably null	Het
Dnah2	A	G	11: 69,326,193 (GRCm39)	F3653L	probably damaging	Het
F11r	GGTGTG	GGTGTGTG	1: 171,290,656 (GRCm39)		probably null	Het
Foxj3	T	G	4: 119,478,808 (GRCm39)	S455R	unknown	Het
Gcnt3	T	C	9: 69,941,455 (GRCm39)	D371G	probably damaging	Het
Gm10837	A	G	14: 122,728,193 (GRCm39)	E23G	unknown	Het
Hivep3	T	C	4: 119,980,098 (GRCm39)	V1712A	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hoxa2	A	G	6: 52,140,041 (GRCm39)	V315A	probably damaging	Het
Irx5	A	T	8: 93,086,241 (GRCm39)	Y108F	possibly damaging	Het
Itsn1	T	C	16: 91,608,996 (GRCm39)	I248T	probably damaging	Het
Kcnb1	T	C	2: 166,946,361 (GRCm39)	K829R	probably benign	Het
Klhl17	A	G	4: 156,314,510 (GRCm39)	V635A	unknown	Het
Krr1	C	T	10: 111,815,834 (GRCm39)	R234*	probably null	Het
Mcm2	T	C	6: 88,874,293 (GRCm39)	E71G	probably damaging	Het
Mroh5	C	A	15: 73,691,139 (GRCm39)	K10N	probably damaging	Het
Myh3	A	G	11: 66,992,005 (GRCm39)	E1850G	probably damaging	Het
Nedd9	T	C	13: 41,492,319 (GRCm39)	I64V	probably benign	Het
Nisch	A	G	14: 30,908,658 (GRCm39)	S456P	possibly damaging	Het
Nrcam	T	C	12: 44,610,896 (GRCm39)	V532A	probably benign	Het
Or51k1	T	C	7: 103,661,330 (GRCm39)	D193G	possibly damaging	Het
Or5p51	T	G	7: 107,444,124 (GRCm39)	D272A	probably damaging	Het
Or7g32	T	C	9: 19,408,796 (GRCm39)	F251L	probably damaging	Het
Or8k17	C	T	2: 86,066,862 (GRCm39)	V106M	probably benign	Het
Plekhg1	C	T	10: 3,907,521 (GRCm39)	P868S		Het
Ptf1a	A	G	2: 19,450,760 (GRCm39)	Q30R	possibly damaging	Het
Ptgs1	G	T	2: 36,141,179 (GRCm39)	C542F	probably damaging	Het
Rere	T	A	4: 150,701,424 (GRCm39)	M1268K	possibly damaging	Het
Rp1	A	G	1: 4,315,318 (GRCm39)	F485L	unknown	Het
Samd14	A	T	11: 94,905,213 (GRCm39)	E8D	probably benign	Het
Serpinh1	A	G	7: 98,995,545 (GRCm39)	Y346H	possibly damaging	Het
Shq1	A	T	6: 100,648,021 (GRCm39)	M1K	probably null	Het
Tfrc	T	C	16: 32,443,848 (GRCm39)	S551P	probably damaging	Het
Tnr	A	C	1: 159,715,860 (GRCm39)	N874T	possibly damaging	Het
Trak1	C	A	9: 121,298,096 (GRCm39)	T667N	probably damaging	Het
Trpv2	A	C	11: 62,481,757 (GRCm39)	T423P	probably damaging	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn2r24	A	G	6: 123,756,077 (GRCm39)	T50A	probably benign	Het
Xirp2	T	A	2: 67,346,853 (GRCm39)	D3031E	probably benign	Het
Zbed6	G	T	1: 133,586,530 (GRCm39)	A269E	probably damaging	Het
Zbtb4	A	C	11: 69,669,598 (GRCm39)	I774L	probably benign	Het
Zbtb47	T	C	9: 121,596,344 (GRCm39)	S604P	probably benign	Het
Zfhx3	A	G	8: 109,677,349 (GRCm39)	T2800A	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
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'- CCTGCGAGAAACACTTAGTGC -3'
(R):5'- GATAATTCTAGGCTTGTGCTTTTCC -3'

Sequencing Primer
(F):5'- CCTGAGGCCCTAAAACGTGTTAATTC -3'
(R):5'- CCTCTCTACTGGGTTTCTTGAAGG -3'

Posted On

2020-07-13