Mutagenetix > Incidental Mutation

Incidental Mutation 'R6880:Lrrn4'

536599

Institutional Source

Beutler Lab

Gene Symbol

Lrrn4

Ensembl Gene

ENSMUSG00000043110

Gene Name

leucine rich repeat neuronal 4

Synonyms

B430119L13Rik

MMRRC Submission

044976-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6880 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

132710225-132722811 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 132714032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 305 (S305P)

Ref Sequence

ENSEMBL: ENSMUSP00000057005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049787]

AlphaFold

P59383

Predicted Effect

probably damaging
Transcript: ENSMUST00000049787
AA Change: S305P

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000057005
Gene: ENSMUSG00000043110
AA Change: S305P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRR	105	126	7.36e0	SMART
LRR_TYP	128	151	3.44e-4	SMART
LRR	153	175	1.19e1	SMART
LRR	176	199	1.53e1	SMART
LRR	205	228	2.03e1	SMART
LRR	229	253	3.36e2	SMART
LRRCT	311	363	6.92e-2	SMART
low complexity region	520	530	N/A	INTRINSIC
FN3	577	656	3.73e-10	SMART
transmembrane domain	679	701	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

97% (62/64)

MGI Phenotype

PHENOTYPE: Homozygous null mutant mice exhibit impaired memory retention in hippocampus- dependent learning tasks such as contextual conditioning and spatial learning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,123,854 (GRCm39)		probably null	Het
Aff3	T	C	1: 38,574,243 (GRCm39)	H206R	probably damaging	Het
Aff3	T	C	1: 38,666,209 (GRCm39)	D5G	possibly damaging	Het
Alg5	A	G	3: 54,646,264 (GRCm39)	E43G	probably damaging	Het
Ankrd36	T	C	11: 5,578,748 (GRCm39)	L4P	probably damaging	Het
Ano1	T	C	7: 144,198,479 (GRCm39)	Y345C	probably benign	Het
Atf7ip	A	G	6: 136,538,038 (GRCm39)	I432V	probably damaging	Het
B230307C23Rik	T	C	16: 97,798,627 (GRCm39)		probably benign	Het
Baz2b	T	A	2: 59,743,283 (GRCm39)	N1563Y	probably damaging	Het
Bhlha15	A	T	5: 144,128,451 (GRCm39)	T188S	probably damaging	Het
Cbr3	T	C	16: 93,487,426 (GRCm39)	V203A	probably benign	Het
Cpsf1	T	C	15: 76,486,739 (GRCm39)	T266A	probably benign	Het
Dnah7c	T	C	1: 46,566,831 (GRCm39)	Y681H	probably damaging	Het
Dock2	C	T	11: 34,579,279 (GRCm39)		probably null	Het
Dsc1	T	A	18: 20,221,429 (GRCm39)	D682V	probably damaging	Het
Fkbp15	A	T	4: 62,254,732 (GRCm39)	I256N	possibly damaging	Het
Foxd1	A	C	13: 98,491,225 (GRCm39)	D33A	unknown	Het
Gid4	T	A	11: 60,327,261 (GRCm39)	F149I	probably damaging	Het
Hmcn2	G	T	2: 31,233,068 (GRCm39)	V206L	probably damaging	Het
Ighg2b	T	C	12: 113,270,726 (GRCm39)	I135V		Het
Ighv1-24	T	C	12: 114,736,663 (GRCm39)	Y79C	possibly damaging	Het
Impg1	T	A	9: 80,312,082 (GRCm39)	D167V	probably damaging	Het
Jakmip1	T	C	5: 37,262,967 (GRCm39)	S372P	possibly damaging	Het
Kcnb1	T	C	2: 166,947,727 (GRCm39)	T374A	probably damaging	Het
Ltbp1	C	T	17: 75,628,044 (GRCm39)	T1179I	possibly damaging	Het
Mab21l2	A	G	3: 86,454,463 (GRCm39)	I179T	possibly damaging	Het
Myo5b	A	T	18: 74,855,501 (GRCm39)	H1230L	probably benign	Het
Myocos	T	C	1: 162,484,602 (GRCm39)		probably null	Het
Nipa2	T	C	7: 55,582,999 (GRCm39)	T249A	probably damaging	Het
Oas1a	C	A	5: 121,040,003 (GRCm39)	R196L	probably damaging	Het
Or2ag18	A	T	7: 106,405,019 (GRCm39)	S217T	probably damaging	Het
Or5an11	A	G	19: 12,245,974 (GRCm39)	I127V	probably benign	Het
Or8k41	A	G	2: 86,314,069 (GRCm39)	F6L	probably benign	Het
Phxr2	G	A	10: 98,961,946 (GRCm39)		probably benign	Het
Pigq	A	G	17: 26,153,802 (GRCm39)	L85P	probably damaging	Het
Pla2g4a	T	A	1: 149,727,202 (GRCm39)	D518V	possibly damaging	Het
Pm20d1	A	G	1: 131,731,839 (GRCm39)	K294E	probably benign	Het
Polr3d	C	A	14: 70,677,455 (GRCm39)	R307L	probably benign	Het
Pou5f2	T	C	13: 78,173,613 (GRCm39)	L185P	possibly damaging	Het
Prex2	A	T	1: 11,202,608 (GRCm39)	N506Y	probably damaging	Het
Proser1	T	A	3: 53,385,260 (GRCm39)	S381T	probably benign	Het
Prpf4b	T	C	13: 35,078,436 (GRCm39)	V682A	possibly damaging	Het
Prr14l	A	T	5: 32,988,211 (GRCm39)	L428Q	probably benign	Het
Prss23	A	G	7: 89,160,033 (GRCm39)	V12A	probably benign	Het
Qki	T	C	17: 10,434,376 (GRCm39)	D321G	probably benign	Het
Rab11fip5	A	G	6: 85,325,827 (GRCm39)	L193P	probably damaging	Het
Retreg1	T	G	15: 25,971,825 (GRCm39)	L245R	probably damaging	Het
Rfc1	T	C	5: 65,434,729 (GRCm39)	N679S	probably benign	Het
Rpl4	C	T	9: 64,084,335 (GRCm39)	A220V	probably damaging	Het
Rxra	G	A	2: 27,638,668 (GRCm39)	E224K	possibly damaging	Het
Slc26a7	A	G	4: 14,516,159 (GRCm39)	C557R	possibly damaging	Het
Sncaip	A	G	18: 53,002,136 (GRCm39)	K219R	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sphkap	A	G	1: 83,234,978 (GRCm39)	V1616A	probably damaging	Het
Sulf1	T	C	1: 12,912,979 (GRCm39)	C738R	probably damaging	Het
Suz12	T	A	11: 79,892,998 (GRCm39)	C38*	probably null	Het
Ttn	T	C	2: 76,550,842 (GRCm39)	T23190A	probably damaging	Het
Twnk	A	G	19: 44,995,855 (GRCm39)	D96G	probably benign	Het
Vcan	T	A	13: 89,860,500 (GRCm39)	N289I	probably damaging	Het
Vmn2r120	A	T	17: 57,816,187 (GRCm39)	S723T	probably damaging	Het
Vmn2r97	A	T	17: 19,134,770 (GRCm39)	I63F	probably benign	Het
Washc5	T	C	15: 59,222,021 (GRCm39)	N125S	probably benign	Het
Zfp865	A	G	7: 5,033,548 (GRCm39)	Y511C	probably damaging	Het

Other mutations in Lrrn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00333:Lrrn4	APN	2	132,712,737 (GRCm39)	missense	probably damaging	1.00
IGL00661:Lrrn4	APN	2	132,712,588 (GRCm39)	missense	probably benign	0.08
IGL01542:Lrrn4	APN	2	132,721,392 (GRCm39)	missense	probably benign
IGL01584:Lrrn4	APN	2	132,719,996 (GRCm39)	missense	probably damaging	1.00
IGL01723:Lrrn4	APN	2	132,711,981 (GRCm39)	missense	possibly damaging	0.79
R0270:Lrrn4	UTSW	2	132,712,639 (GRCm39)	missense	probably benign	0.01
R0348:Lrrn4	UTSW	2	132,712,363 (GRCm39)	missense	probably benign	0.02
R0400:Lrrn4	UTSW	2	132,719,940 (GRCm39)	missense	probably benign	0.12
R0701:Lrrn4	UTSW	2	132,712,080 (GRCm39)	missense	probably benign	0.02
R1465:Lrrn4	UTSW	2	132,713,995 (GRCm39)	missense	probably damaging	1.00
R1465:Lrrn4	UTSW	2	132,713,995 (GRCm39)	missense	probably damaging	1.00
R1664:Lrrn4	UTSW	2	132,711,886 (GRCm39)	missense	probably damaging	1.00
R1987:Lrrn4	UTSW	2	132,712,363 (GRCm39)	missense	probably benign	0.02
R3409:Lrrn4	UTSW	2	132,721,781 (GRCm39)	missense	unknown
R3743:Lrrn4	UTSW	2	132,711,786 (GRCm39)	splice site	probably null
R4678:Lrrn4	UTSW	2	132,721,488 (GRCm39)	missense	probably benign	0.16
R5770:Lrrn4	UTSW	2	132,714,076 (GRCm39)	missense	probably damaging	1.00
R6438:Lrrn4	UTSW	2	132,712,062 (GRCm39)	missense	probably damaging	1.00
R6511:Lrrn4	UTSW	2	132,712,246 (GRCm39)	missense	probably benign	0.06
R7132:Lrrn4	UTSW	2	132,721,613 (GRCm39)	nonsense	probably null
R7273:Lrrn4	UTSW	2	132,721,749 (GRCm39)	missense	unknown
R7424:Lrrn4	UTSW	2	132,711,663 (GRCm39)	missense	possibly damaging	0.90
R7710:Lrrn4	UTSW	2	132,721,451 (GRCm39)	missense	probably benign	0.00
R7980:Lrrn4	UTSW	2	132,720,096 (GRCm39)	missense	probably damaging	1.00
R8133:Lrrn4	UTSW	2	132,719,934 (GRCm39)	missense	probably damaging	1.00
R8229:Lrrn4	UTSW	2	132,711,807 (GRCm39)	missense	probably damaging	1.00
R8489:Lrrn4	UTSW	2	132,721,364 (GRCm39)	missense	probably benign	0.20
R8956:Lrrn4	UTSW	2	132,714,011 (GRCm39)	missense	probably damaging	1.00
R9337:Lrrn4	UTSW	2	132,712,552 (GRCm39)	missense	probably benign	0.11
R9342:Lrrn4	UTSW	2	132,712,290 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAGATGGACAAGACACAAGCT -3'
(R):5'- GGTCTAAGCTCAATTTAGGTTCTATT -3'

Sequencing Primer
(F):5'- ACACAAGCTGGGGCAGGTC -3'
(R):5'- GAGTTACAGATCGTTGTTAGCCACC -3'

Posted On

2018-10-18