Mutagenetix > Incidental Mutation

Incidental Mutation 'R2380:Smr2l'

248418

Institutional Source

Beutler Lab

Gene Symbol

Smr2l

Ensembl Gene

ENSMUSG00000090302

Gene Name

submaxillary gland androgen regulated protein 2 like

Synonyms

Gm7714

MMRRC Submission

040356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R2380 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88416786-88430694 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 88430413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 103 (M103R)

Ref Sequence

ENSEMBL: ENSMUSP00000132464 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169154]

AlphaFold

E9Q079

Predicted Effect

probably benign
Transcript: ENSMUST00000169154
AA Change: M103R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000132464
Gene: ENSMUSG00000090302
AA Change: M103R

Domain	Start	End	E-Value	Type
Pfam:PROL5-SMR	1	116	1.6e-39	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	T	C	15: 81,949,036 (GRCm39)	S978P	possibly damaging	Het
Ago3	G	A	4: 126,262,315 (GRCm39)	R412C	probably damaging	Het
Ampd3	C	T	7: 110,399,917 (GRCm39)	T344M	probably damaging	Het
Arl10	G	T	13: 54,722,962 (GRCm39)	V19L	probably benign	Het
Aspm	C	T	1: 139,407,086 (GRCm39)	A1991V	probably damaging	Het
Axdnd1	A	T	1: 156,193,221 (GRCm39)	D655E	probably benign	Het
Bdp1	T	C	13: 100,196,878 (GRCm39)	H1169R	probably benign	Het
Cacna1s	T	C	1: 136,023,586 (GRCm39)	F942L	probably damaging	Het
Camk2g	A	G	14: 20,789,455 (GRCm39)	I205T	probably damaging	Het
Cdh5	C	A	8: 104,852,304 (GRCm39)	H140N	possibly damaging	Het
Cog8	C	A	8: 107,782,993 (GRCm39)	G99W	probably damaging	Het
Csmd1	A	G	8: 16,240,101 (GRCm39)	C1104R	probably damaging	Het
Dhrs7c	G	A	11: 67,706,690 (GRCm39)	V283M	probably benign	Het
Emilin2	T	A	17: 71,617,219 (GRCm39)	Q64L	probably benign	Het
Enpp3	T	C	10: 24,652,770 (GRCm39)	E729G	probably benign	Het
Fam169a	T	A	13: 97,255,043 (GRCm39)		probably benign	Het
Gvin-ps3	T	C	7: 105,681,374 (GRCm39)	E627G	possibly damaging	Het
Hmcn1	T	A	1: 150,441,135 (GRCm39)	M5374L	probably benign	Het
Hsd17b1	A	T	11: 100,969,289 (GRCm39)	I8F	probably damaging	Het
Itgae	A	G	11: 73,036,395 (GRCm39)	E1111G	probably benign	Het
Kcmf1	A	G	6: 72,835,755 (GRCm39)		probably null	Het
Kdm1b	T	A	13: 47,227,231 (GRCm39)	F574L	probably damaging	Het
Lgr4	T	C	2: 109,842,738 (GRCm39)	Y908H	probably damaging	Het
Lig1	T	C	7: 13,037,722 (GRCm39)		probably benign	Het
Ltbp3	C	A	19: 5,801,551 (GRCm39)	C698*	probably null	Het
Ncor2	A	G	5: 125,113,144 (GRCm39)	V1216A	possibly damaging	Het
Or52e3	A	T	7: 102,869,815 (GRCm39)	T297S	possibly damaging	Het
Or5b109	T	C	19: 13,212,085 (GRCm39)	V157A	probably benign	Het
Or5l13	T	C	2: 87,779,741 (GRCm39)	T279A	probably damaging	Het
Pmepa1	G	A	2: 173,069,926 (GRCm39)	R210W	probably damaging	Het
Ppp5c	A	G	7: 16,740,040 (GRCm39)	Y434H	probably damaging	Het
Pwwp2b	A	G	7: 138,835,366 (GRCm39)	E269G	probably damaging	Het
Rgs3	A	T	4: 62,544,124 (GRCm39)	T299S	probably benign	Het
Skint5	G	A	4: 113,403,733 (GRCm39)	T1163I	unknown	Het
Slc35f4	A	G	14: 49,543,660 (GRCm39)		probably null	Het
Trmt5	A	G	12: 73,331,888 (GRCm39)	I4T	probably benign	Het
Ttc7b	A	G	12: 100,321,260 (GRCm39)		probably null	Het
Utp6	A	G	11: 79,826,831 (GRCm39)	S582P	possibly damaging	Het
Zbtb41	T	C	1: 139,351,552 (GRCm39)	S222P	probably damaging	Het
Zfp988	A	C	4: 147,417,242 (GRCm39)	K559Q	probably benign	Het

Other mutations in Smr2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01941:Smr2l	APN	5	88,430,301 (GRCm39)	missense	probably benign	0.32
IGL02928:Smr2l	APN	5	88,424,976 (GRCm39)	missense	probably benign	0.16
R0254:Smr2l	UTSW	5	88,430,230 (GRCm39)	missense	possibly damaging	0.82
R2239:Smr2l	UTSW	5	88,430,413 (GRCm39)	missense	probably benign	0.00
R8270:Smr2l	UTSW	5	88,430,383 (GRCm39)	missense	possibly damaging	0.51
R9436:Smr2l	UTSW	5	88,430,257 (GRCm39)	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GGACAGCGTGACCCTAGAAAAC -3'
(R):5'- CCAAAATCCCACAGTGCTTAGG -3'

Sequencing Primer
(F):5'- ATCCTCATAGTCGTCACACTCAG -3'
(R):5'- ATCCCACAGTGCTTAGGTTTATAC -3'

Posted On

2014-11-11