Mutagenetix > Incidental Mutation

Incidental Mutation 'R7872:Lrrc7'

608164

Institutional Source

Beutler Lab

Gene Symbol

Lrrc7

Ensembl Gene

ENSMUSG00000028176

Gene Name

leucine rich repeat containing 7

Synonyms

densin

MMRRC Submission

045924-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.798) question?

Stock #

R7872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

157788528-158267858 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 158059099 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 3 (C3S)

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 damaging
Transcript: ENSMUST00000106044
AA Change: C3S

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101659
Gene: ENSMUSG00000028176
AA Change: C3S

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: C3S

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000142440
Gene: ENSMUSG00000028176
AA Change: C3S

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 damaging
Transcript: ENSMUST00000200137
AA Change: C3S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142498
Gene: ENSMUSG00000028176
AA Change: C3S

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

probably benign
Transcript: ENSMUST00000200196

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,220,839 (GRCm39)	D290N	probably damaging	Het
Adam18	T	C	8: 25,101,116 (GRCm39)	D682G	probably benign	Het
Ankrd46	A	G	15: 36,485,989 (GRCm39)	V88A	possibly damaging	Het
Ankub1	T	A	3: 57,572,807 (GRCm39)	K305I	probably damaging	Het
Atrn	T	A	2: 130,812,147 (GRCm39)		probably null	Het
Bambi	A	T	18: 3,511,406 (GRCm39)	T76S	probably benign	Het
Cacna1a	T	A	8: 85,310,283 (GRCm39)	V1447E	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 95,990,808 (GRCm39)		probably benign	Het
Clcn2	A	G	16: 20,527,210 (GRCm39)	M629T	probably damaging	Het
Clcn4	T	C	7: 7,290,780 (GRCm39)	N673S	probably benign	Het
Col20a1	T	C	2: 180,628,371 (GRCm39)	F15S	probably benign	Het
Col2a1	G	A	15: 97,898,458 (GRCm39)	Q39*	probably null	Het
Creb3	A	G	4: 43,563,332 (GRCm39)	E119G	probably benign	Het
Dnah5	A	C	15: 28,245,830 (GRCm39)	D556A	probably damaging	Het
Edar	C	T	10: 58,446,348 (GRCm39)	M192I	possibly damaging	Het
Fam91a1	A	G	15: 58,320,209 (GRCm39)	M634V	probably benign	Het
Fbxo10	C	T	4: 45,051,699 (GRCm39)	V471I	not run	Het
Fer1l5	T	C	1: 36,460,967 (GRCm39)	F2032L	probably benign	Het
Gm5150	A	C	3: 16,060,485 (GRCm39)	M1R	probably null	Het
Grin1	T	C	2: 25,188,202 (GRCm39)	E509G	probably benign	Het
Igkv10-94	C	T	6: 68,681,913 (GRCm39)		probably benign	Het
Il18bp	A	G	7: 101,666,002 (GRCm39)	Y59H	possibly damaging	Het
Ints8	A	T	4: 11,254,062 (GRCm39)	C17S	probably benign	Het
Kcnmb1	T	C	11: 33,916,275 (GRCm39)	Y74H	probably damaging	Het
Kpna1	T	C	16: 35,843,565 (GRCm39)	V313A	probably benign	Het
Lrp4	C	T	2: 91,321,061 (GRCm39)	T1029I	possibly damaging	Het
Lyst	C	A	13: 13,810,450 (GRCm39)	H707N	probably benign	Het
Map3k20	A	G	2: 72,202,098 (GRCm39)	K148R	probably damaging	Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Miip	C	T	4: 147,947,375 (GRCm39)	G236S	probably benign	Het
Mocs1	T	A	17: 49,746,561 (GRCm39)	I177N	probably damaging	Het
Muc5b	A	G	7: 141,399,850 (GRCm39)	D441G	unknown	Het
Ncoa1	T	C	12: 4,328,186 (GRCm39)	N884S	probably benign	Het
Or12j4	A	G	7: 140,046,696 (GRCm39)	N194S	probably damaging	Het
Or51a39	A	G	7: 102,363,389 (GRCm39)	V77A	probably benign	Het
Padi6	A	T	4: 140,455,073 (GRCm39)	F621L	probably damaging	Het
Pde8b	C	A	13: 95,223,347 (GRCm39)	M197I	possibly damaging	Het
Pear1	T	A	3: 87,659,522 (GRCm39)	I771L	probably benign	Het
Poli	A	G	18: 70,655,891 (GRCm39)	L281P	probably damaging	Het
Prdm12	T	C	2: 31,530,231 (GRCm39)	W41R	probably damaging	Het
Prkdc	T	G	16: 15,532,870 (GRCm39)	S1500A	probably benign	Het
Prune2	T	A	19: 17,096,798 (GRCm39)	H767Q	probably benign	Het
Rasgef1b	G	A	5: 99,382,403 (GRCm39)	Q196*	probably null	Het
Rnpc3	A	T	3: 113,416,096 (GRCm39)	L121*	probably null	Het
Rpp14	A	G	14: 8,083,724 (GRCm38)	M1V	probably null	Het
Ryr2	T	A	13: 11,610,610 (GRCm39)	D4072V	probably damaging	Het
Sgms1	T	C	19: 32,102,765 (GRCm39)	H314R	probably damaging	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Slc37a3	A	T	6: 39,324,244 (GRCm39)	Y335N	probably damaging	Het
Tcp11l1	A	T	2: 104,536,837 (GRCm39)	H9Q	probably benign	Het
Tnrc6a	T	A	7: 122,779,057 (GRCm39)	M1256K	probably damaging	Het
Trpc6	A	G	9: 8,609,910 (GRCm39)	N126S	probably damaging	Het
Tut4	T	G	4: 108,374,715 (GRCm39)	C933G	probably damaging	Het
Ubr4	T	C	4: 139,120,373 (GRCm39)	F266S	possibly damaging	Het
Uimc1	A	G	13: 55,217,550 (GRCm39)	V424A	possibly damaging	Het
Utrn	T	C	10: 12,573,873 (GRCm39)	I1066V	probably benign	Het
Vmn1r204	A	G	13: 22,740,404 (GRCm39)	T12A	probably benign	Het
Vmn1r57	T	A	7: 5,223,613 (GRCm39)	I46N	possibly damaging	Het
Vmn1r91	T	C	7: 19,835,839 (GRCm39)	Y253H	probably benign	Het
Vmn2r14	T	A	5: 109,369,219 (GRCm39)	H118L	probably benign	Het
Zfp775	A	G	6: 48,597,404 (GRCm39)	K426R	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
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'- GCATTAGGAACTTGAGATTGACAG -3'
(R):5'- AAGTTGTCCTGTGCCTGATTTC -3'

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

Posted On

2019-12-20