Mutagenetix > Incidental Mutation

Incidental Mutation 'R3712:Lrfn2'

259697

Institutional Source

Beutler Lab

Gene Symbol

Lrfn2

Ensembl Gene

ENSMUSG00000040490

Gene Name

leucine rich repeat and fibronectin type III domain containing 2

Synonyms

5730420O05Rik, SALM1

MMRRC Submission

040705-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3712 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

49239407-49404616 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 49378188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 423 (E423G)

Ref Sequence

ENSEMBL: ENSMUSP00000047573 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046254]

AlphaFold

Q80TG9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046254
AA Change: E423G

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000047573
Gene: ENSMUSG00000040490
AA Change: E423G

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
LRRNT	20	56	2.9e0	SMART
LRR	75	98	7.36e0	SMART
LRR_TYP	99	122	1.1e-2	SMART
LRR_TYP	123	146	2.2e-2	SMART
LRR	148	171	4.45e1	SMART
LRR_TYP	172	195	1.56e-2	SMART
LRR	196	220	1.06e1	SMART
LRRCT	242	287	5.53e-4	SMART
IGc2	301	366	8e-12	SMART
low complexity region	401	415	N/A	INTRINSIC
FN3	420	500	1.52e-1	SMART
transmembrane domain	533	555	N/A	INTRINSIC
low complexity region	613	654	N/A	INTRINSIC

Meta Mutation Damage Score

0.1522

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (59/59)

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit small spleens, small or no thymi, impaired T cell development, and decreased T cell proliferation in response to mitogen. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	C	A	16: 88,424,411 (GRCm39)	V27F	unknown	Het
Akr1c20	T	C	13: 4,560,222 (GRCm39)	E152G	probably damaging	Het
Alx4	G	A	2: 93,473,134 (GRCm39)	G44D	possibly damaging	Het
Arhgap31	T	A	16: 38,422,895 (GRCm39)	E1057V	possibly damaging	Het
Arhgef26	A	T	3: 62,331,050 (GRCm39)	D588V	probably damaging	Het
Bag2	T	A	1: 33,785,997 (GRCm39)	E108D	probably benign	Het
Ccdc162	C	T	10: 41,463,375 (GRCm39)	V183I	probably benign	Het
Ccdc83	A	G	7: 89,885,563 (GRCm39)		probably benign	Het
Ccnyl1	G	A	1: 64,753,827 (GRCm39)	E137K	probably damaging	Het
Celsr2	T	C	3: 108,308,155 (GRCm39)	T1849A	probably benign	Het
Cep192	C	A	18: 67,953,400 (GRCm39)	D472E	probably benign	Het
Cep57l1	A	G	10: 41,619,110 (GRCm39)	Y86H	probably damaging	Het
Cep95	G	T	11: 106,702,112 (GRCm39)	E370*	probably null	Het
Cldn10	A	G	14: 119,092,522 (GRCm39)	T41A	probably damaging	Het
Clptm1l	T	A	13: 73,764,157 (GRCm39)	Y426N	probably benign	Het
Dipk1b	T	C	2: 26,522,650 (GRCm39)	L33S	possibly damaging	Het
Eps15	T	C	4: 109,166,374 (GRCm39)	V89A	probably damaging	Het
Fam53b	A	G	7: 132,361,654 (GRCm39)	S125P	probably damaging	Het
Fbxo44	A	T	4: 148,240,461 (GRCm39)	W256R	probably benign	Het
Gnl2	T	C	4: 124,940,067 (GRCm39)	V313A	probably damaging	Het
Hyal4	A	G	6: 24,756,513 (GRCm39)	R244G	probably damaging	Het
Irf6	G	T	1: 192,844,931 (GRCm39)	W134L	probably benign	Het
Kcnu1	A	G	8: 26,371,448 (GRCm39)	T286A	probably damaging	Het
Lpcat2	T	C	8: 93,644,798 (GRCm39)	V529A	possibly damaging	Het
Lrp8	G	T	4: 107,705,499 (GRCm39)	R209L	probably benign	Het
Mgll	T	C	6: 88,741,570 (GRCm39)		probably benign	Het
Mix23	T	C	16: 35,901,775 (GRCm39)		probably null	Het
Mta3	A	G	17: 84,070,417 (GRCm39)	I193V	probably damaging	Het
Nedd4l	G	A	18: 65,342,790 (GRCm39)	V909I	possibly damaging	Het
Or10al5	T	A	17: 38,063,271 (GRCm39)	C175*	probably null	Het
Or3a1d	A	T	11: 74,238,023 (GRCm39)	I129N	probably damaging	Het
Or5p66	A	T	7: 107,885,663 (GRCm39)	Y223*	probably null	Het
Or6c206	A	T	10: 129,097,093 (GRCm39)	K88*	probably null	Het
Orc1	T	C	4: 108,461,218 (GRCm39)	V526A	probably damaging	Het
Pard3b	T	C	1: 62,383,137 (GRCm39)	S744P	probably damaging	Het
Pcnx3	G	A	19: 5,733,367 (GRCm39)	Q155*	probably null	Het
Pcnx3	C	G	19: 5,733,368 (GRCm39)	L1F	probably null	Het
Pdcd11	T	A	19: 47,115,684 (GRCm39)		probably benign	Het
Pi4k2a	G	A	19: 42,079,131 (GRCm39)	R64Q	probably damaging	Het
Pigt	A	G	2: 164,343,565 (GRCm39)	D347G	probably benign	Het
Rbm27	T	C	18: 42,425,177 (GRCm39)		probably benign	Het
Rpl7a-ps10	A	G	9: 97,061,926 (GRCm39)	E232G	probably damaging	Het
Rprd2	A	G	3: 95,671,872 (GRCm39)	L1177P	probably damaging	Het
Rrn3	T	A	16: 13,601,959 (GRCm39)	L71*	probably null	Het
Sbspon	A	G	1: 15,962,669 (GRCm39)	C70R	probably damaging	Het
Smtn	A	T	11: 3,482,865 (GRCm39)		probably null	Het
Son	A	G	16: 91,453,614 (GRCm39)	D787G	probably damaging	Het
Sphkap	C	T	1: 83,254,833 (GRCm39)	S972N	probably benign	Het
Spopl	C	T	2: 23,427,392 (GRCm39)	R221Q	probably damaging	Het
Srp14	A	C	2: 118,309,440 (GRCm39)	L58V	probably null	Het
Sun2	A	G	15: 79,612,114 (GRCm39)	S522P	possibly damaging	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Trdn	T	C	10: 33,033,162 (GRCm39)	I129T	probably benign	Het
Trpv3	A	G	11: 73,169,780 (GRCm39)	K117R	probably benign	Het
Ubqlnl	A	T	7: 103,798,345 (GRCm39)	I384N	probably benign	Het
Ush2a	G	A	1: 188,542,489 (GRCm39)	G3352S	probably benign	Het
Vmn1r59	A	T	7: 5,457,637 (GRCm39)	I41K	probably damaging	Het
Vmn2r125	T	A	4: 156,702,419 (GRCm39)	Y68*	probably null	Het
Zpld1	A	T	16: 55,046,799 (GRCm39)	L390*	probably null	Het

Other mutations in Lrfn2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01612:Lrfn2	APN	17	49,377,425 (GRCm39)	missense	possibly damaging	0.81
IGL01989:Lrfn2	APN	17	49,378,113 (GRCm39)	missense	probably damaging	1.00
IGL03324:Lrfn2	APN	17	49,377,915 (GRCm39)	missense	probably damaging	1.00
IGL02991:Lrfn2	UTSW	17	49,377,732 (GRCm39)	missense	probably damaging	1.00
R0306:Lrfn2	UTSW	17	49,403,283 (GRCm39)	missense	probably damaging	0.99
R0539:Lrfn2	UTSW	17	49,378,072 (GRCm39)	missense	probably damaging	1.00
R1245:Lrfn2	UTSW	17	49,403,277 (GRCm39)	critical splice acceptor site	probably null
R1414:Lrfn2	UTSW	17	49,377,857 (GRCm39)	missense	probably benign	0.01
R1437:Lrfn2	UTSW	17	49,378,253 (GRCm39)	missense	probably damaging	0.97
R1670:Lrfn2	UTSW	17	49,403,605 (GRCm39)	missense	probably benign	0.01
R2358:Lrfn2	UTSW	17	49,378,188 (GRCm39)	missense	possibly damaging	0.92
R3711:Lrfn2	UTSW	17	49,378,188 (GRCm39)	missense	possibly damaging	0.92
R4521:Lrfn2	UTSW	17	49,376,922 (GRCm39)	start codon destroyed	probably null	0.02
R4532:Lrfn2	UTSW	17	49,377,564 (GRCm39)	missense	probably damaging	1.00
R4724:Lrfn2	UTSW	17	49,377,462 (GRCm39)	missense	probably damaging	1.00
R5062:Lrfn2	UTSW	17	49,377,528 (GRCm39)	missense	probably damaging	1.00
R5066:Lrfn2	UTSW	17	49,403,448 (GRCm39)	missense	probably damaging	1.00
R5348:Lrfn2	UTSW	17	49,403,718 (GRCm39)	missense	probably benign
R5673:Lrfn2	UTSW	17	49,403,625 (GRCm39)	missense	probably benign	0.02
R5900:Lrfn2	UTSW	17	49,377,291 (GRCm39)	missense	possibly damaging	0.82
R6014:Lrfn2	UTSW	17	49,376,934 (GRCm39)	missense	possibly damaging	0.96
R6087:Lrfn2	UTSW	17	49,378,154 (GRCm39)	missense	probably benign
R6224:Lrfn2	UTSW	17	49,403,379 (GRCm39)	missense	probably damaging	1.00
R6229:Lrfn2	UTSW	17	49,404,160 (GRCm39)	missense	possibly damaging	0.88
R6342:Lrfn2	UTSW	17	49,404,028 (GRCm39)	missense	probably benign	0.27
R6408:Lrfn2	UTSW	17	49,377,654 (GRCm39)	missense	probably damaging	1.00
R7026:Lrfn2	UTSW	17	49,404,005 (GRCm39)	missense	probably benign	0.00
R7505:Lrfn2	UTSW	17	49,403,479 (GRCm39)	missense	probably benign	0.14
R7852:Lrfn2	UTSW	17	49,376,972 (GRCm39)	missense	possibly damaging	0.69
R7918:Lrfn2	UTSW	17	49,378,212 (GRCm39)	missense	probably damaging	0.99
R8375:Lrfn2	UTSW	17	49,403,851 (GRCm39)	missense	possibly damaging	0.73
R8733:Lrfn2	UTSW	17	49,403,824 (GRCm39)	missense	probably damaging	0.96
R8828:Lrfn2	UTSW	17	49,404,132 (GRCm39)	missense	probably damaging	1.00
R8872:Lrfn2	UTSW	17	49,378,277 (GRCm39)	nonsense	probably null
R8892:Lrfn2	UTSW	17	49,377,376 (GRCm39)	missense	probably damaging	1.00
R9135:Lrfn2	UTSW	17	49,376,976 (GRCm39)	missense	possibly damaging	0.95
R9358:Lrfn2	UTSW	17	49,403,530 (GRCm39)	missense	probably damaging	0.99
R9661:Lrfn2	UTSW	17	49,403,650 (GRCm39)	missense	probably benign
Z1177:Lrfn2	UTSW	17	49,403,743 (GRCm39)	missense	probably damaging	0.99
Z1177:Lrfn2	UTSW	17	49,377,123 (GRCm39)	missense	probably benign	0.03
Z1177:Lrfn2	UTSW	17	49,377,040 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GACAGTGGACCCTTTACCTG -3'
(R):5'- GAACAGTTGACCCAGGATCC -3'

Sequencing Primer
(F):5'- AGTGGACCCTTTACCTGCATCG -3'
(R):5'- ACAGGCTCTAGCTTCCCAG -3'

Posted On

2015-01-23