Mutagenetix > Incidental Mutation

Incidental Mutation 'R2185:Lrrc28'

237823

Institutional Source

Beutler Lab

Gene Symbol

Lrrc28

Ensembl Gene

ENSMUSG00000030556

Gene Name

leucine rich repeat containing 28

Synonyms

2310058O11Rik, 2210012C09Rik, 1300004K21Rik

MMRRC Submission

040187-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R2185 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67163158-67295016 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 67195201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 203 (R203Q)

Ref Sequence

ENSEMBL: ENSMUSP00000052177 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053950] [ENSMUST00000187953] [ENSMUST00000190276] [ENSMUST00000191035]

AlphaFold

Q3TX51

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053950
AA Change: R203Q

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052177
Gene: ENSMUSG00000030556
AA Change: R203Q

Domain	Start	End	E-Value	Type
LRR	40	63	1.33e-1	SMART
LRR	64	86	3.24e0	SMART
LRR	87	109	1.06e1	SMART
LRR_TYP	110	132	6.67e-2	SMART
LRR	133	156	6.4e0	SMART
LRR	179	202	1.64e-1	SMART
low complexity region	304	318	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187953

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190115

Predicted Effect

probably benign
Transcript: ENSMUST00000190276
AA Change: R134Q

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000140972
Gene: ENSMUSG00000030556
AA Change: R134Q

Domain	Start	End	E-Value	Type
LRR	40	59	3.7e-3	SMART
LRR	64	83	1.2e0	SMART
LRR	87	109	4.4e-2	SMART
LRR_TYP	110	133	2.3e-6	SMART
LRR	133	153	1.1e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190770

Predicted Effect

probably benign
Transcript: ENSMUST00000191035

SMART Domains

Protein: ENSMUSP00000140382
Gene: ENSMUSG00000030556

Domain	Start	End	E-Value	Type
LRR	40	63	1.33e-1	SMART
LRR	64	86	3.24e0	SMART
LRR	87	109	1.06e1	SMART
LRR	110	132	8.09e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191062

Meta Mutation Damage Score

0.0920

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,829 (GRCm39)	D119G	probably damaging	Het
Abca1	A	G	4: 53,089,830 (GRCm39)	M427T	probably benign	Het
Ankra2	T	C	13: 98,402,912 (GRCm39)	F53S	probably damaging	Het
Ano3	T	C	2: 110,605,390 (GRCm39)	E272G	probably benign	Het
Aqr	C	T	2: 113,961,015 (GRCm39)		probably null	Het
Ccdc168	G	A	1: 44,100,541 (GRCm39)	H186Y	probably benign	Het
Cibar1	A	T	4: 12,169,041 (GRCm39)		probably benign	Het
Clca4b	T	C	3: 144,634,317 (GRCm39)	Y92C	probably damaging	Het
Crebbp	A	T	16: 3,902,002 (GRCm39)	N2374K	probably damaging	Het
Cspg4	A	T	9: 56,794,256 (GRCm39)	I664L	probably benign	Het
Ctnnd1	A	T	2: 84,442,892 (GRCm39)	D626E	probably damaging	Het
Dnai3	A	G	3: 145,772,619 (GRCm39)	S476P	possibly damaging	Het
Eml2	A	G	7: 18,927,953 (GRCm39)	Y254C	probably damaging	Het
Gabrr3	T	C	16: 59,255,031 (GRCm39)	S239P	probably damaging	Het
Gen1	T	C	12: 11,311,041 (GRCm39)	T64A	probably null	Het
Gm14399	C	A	2: 174,973,188 (GRCm39)	C189F	probably damaging	Het
Gm9476	T	G	10: 100,143,040 (GRCm39)		noncoding transcript	Het
Kcnh5	A	T	12: 75,177,705 (GRCm39)	F134I	possibly damaging	Het
Kdm4b	G	C	17: 56,700,750 (GRCm39)	A474P	probably benign	Het
Kif2b	TTCTCTCTCT	TTCTCTCT	11: 91,467,797 (GRCm39)		probably null	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lrrc8e	G	T	8: 4,284,986 (GRCm39)	E404*	probably null	Het
Macf1	A	T	4: 123,369,349 (GRCm39)	M239K	probably damaging	Het
Mamdc4	A	G	2: 25,459,704 (GRCm39)		probably null	Het
Matr3	A	G	18: 35,714,278 (GRCm39)	Y75C	probably damaging	Het
Myo19	T	C	11: 84,783,047 (GRCm39)	V187A	probably benign	Het
Ncbp2	A	G	16: 31,775,195 (GRCm39)	D116G	probably damaging	Het
Or1d2	A	T	11: 74,255,572 (GRCm39)	I26F	probably benign	Het
Or4p8	A	C	2: 88,727,047 (GRCm39)	V298G	probably damaging	Het
Or56a3	T	A	7: 104,735,509 (GRCm39)	D195E	possibly damaging	Het
Or9g3	T	C	2: 85,590,363 (GRCm39)	Y119C	probably damaging	Het
Pkd1l3	T	A	8: 110,359,827 (GRCm39)	M894K	possibly damaging	Het
Prpf8	C	T	11: 75,377,939 (GRCm39)	R8*	probably null	Het
Prss12	T	A	3: 123,280,793 (GRCm39)	S493T	probably benign	Het
Ptov1	T	G	7: 44,516,707 (GRCm39)		probably benign	Het
Rfpl4	A	T	7: 5,118,499 (GRCm39)	L24M	probably damaging	Het
Rundc1	C	A	11: 101,316,157 (GRCm39)	D76E	probably benign	Het
Slc5a11	G	T	7: 122,872,421 (GRCm39)	A673S	probably damaging	Het
Smg5	T	C	3: 88,258,868 (GRCm39)	M613T	probably benign	Het
Swt1	T	A	1: 151,260,219 (GRCm39)	H677L	probably damaging	Het
Tas2r107	T	C	6: 131,636,566 (GRCm39)	N161S	probably damaging	Het
Trp73	A	T	4: 154,189,274 (GRCm39)		probably null	Het
Tsr1	A	G	11: 74,792,906 (GRCm39)	I405V	probably damaging	Het
Ttll4	A	G	1: 74,718,988 (GRCm39)	T280A	possibly damaging	Het
Ube2q2	A	G	9: 55,102,366 (GRCm39)		probably null	Het
Usp5	T	C	6: 124,794,373 (GRCm39)	E769G	probably damaging	Het
Vmn2r68	T	A	7: 84,882,901 (GRCm39)	K284*	probably null	Het
Zfp963	C	A	8: 70,195,561 (GRCm39)	K297N	probably benign	Het
Zfp975	C	A	7: 42,311,105 (GRCm39)	A503S	possibly damaging	Het

Other mutations in Lrrc28

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Lrrc28	APN	7	67,278,042 (GRCm39)	critical splice donor site	probably null
IGL01583:Lrrc28	APN	7	67,195,223 (GRCm39)	splice site	probably null
IGL02033:Lrrc28	APN	7	67,209,605 (GRCm39)	critical splice donor site	probably null
IGL02483:Lrrc28	APN	7	67,267,731 (GRCm39)	splice site	probably benign
IGL02750:Lrrc28	APN	7	67,181,431 (GRCm39)	missense	probably damaging	0.96
BB002:Lrrc28	UTSW	7	67,268,857 (GRCm39)	missense	probably damaging	1.00
BB012:Lrrc28	UTSW	7	67,268,857 (GRCm39)	missense	probably damaging	1.00
R0549:Lrrc28	UTSW	7	67,278,090 (GRCm39)	splice site	probably benign
R0563:Lrrc28	UTSW	7	67,195,135 (GRCm39)	missense	probably damaging	1.00
R0650:Lrrc28	UTSW	7	67,267,833 (GRCm39)	missense	probably damaging	1.00
R0652:Lrrc28	UTSW	7	67,267,833 (GRCm39)	missense	probably damaging	1.00
R1557:Lrrc28	UTSW	7	67,209,677 (GRCm39)	missense	probably damaging	1.00
R1820:Lrrc28	UTSW	7	67,290,859 (GRCm39)	missense	probably damaging	0.98
R2149:Lrrc28	UTSW	7	67,181,430 (GRCm39)	missense	probably damaging	0.96
R4479:Lrrc28	UTSW	7	67,181,362 (GRCm39)	critical splice donor site	probably null
R5205:Lrrc28	UTSW	7	67,181,516 (GRCm39)	missense	probably benign	0.00
R7008:Lrrc28	UTSW	7	67,245,459 (GRCm39)	intron	probably benign
R7925:Lrrc28	UTSW	7	67,268,857 (GRCm39)	missense	probably damaging	1.00
R8323:Lrrc28	UTSW	7	67,245,455 (GRCm39)	missense	unknown
R8360:Lrrc28	UTSW	7	67,290,909 (GRCm39)	missense	probably benign	0.01
R8898:Lrrc28	UTSW	7	67,278,042 (GRCm39)	critical splice donor site	probably null
R8919:Lrrc28	UTSW	7	67,268,833 (GRCm39)	missense	possibly damaging	0.88
R9412:Lrrc28	UTSW	7	67,181,512 (GRCm39)	missense	probably damaging	1.00
Z1088:Lrrc28	UTSW	7	67,179,379 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GGCTTACTAGCTGACACTAACATAC -3'
(R):5'- TACAACTGCCGTAAGTCTACACTC -3'

Sequencing Primer
(F):5'- GCCTCGTATTCTTAGTTCATAAAGG -3'
(R):5'- GCCGTAAGTCTACACTCAGAATCATG -3'

Posted On

2014-10-02