Mutagenetix > Incidental Mutation

Incidental Mutation 'R7099:Cryzl2'

568572

Institutional Source

Beutler Lab

Gene Symbol

Cryzl2

Ensembl Gene

ENSMUSG00000033488

Gene Name

crystallin zeta like 2

Synonyms

quinone reductase-like 2, BC026585

MMRRC Submission

045191-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7099 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157286147-157320208 bp(+) (GRCm39)

Type of Mutation

critical splice donor site

DNA Base Change (assembly)

G to A at 157316154 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046743] [ENSMUST00000119891] [ENSMUST00000193791]

AlphaFold

Q3UNZ8

Predicted Effect

probably benign
Transcript: ENSMUST00000046743

SMART Domains

Protein: ENSMUSP00000044945
Gene: ENSMUSG00000033488

Domain	Start	End	E-Value	Type
Pfam:ADH_N	51	174	4.1e-14	PFAM
Pfam:ADH_zinc_N	175	309	2.5e-23	PFAM
Pfam:ADH_zinc_N_2	208	347	2.8e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000119891

SMART Domains

Protein: ENSMUSP00000113664
Gene: ENSMUSG00000033488

Domain	Start	End	E-Value	Type
Pfam:ADH_N	51	159	1.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193791

SMART Domains

Protein: ENSMUSP00000141717
Gene: ENSMUSG00000033488

Domain	Start	End	E-Value	Type
Pfam:ADH_N	51	159	1.9e-15	PFAM
low complexity region	166	180	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000194220

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	C	T	16: 64,591,151 (GRCm39)	A26T	probably benign	Het
Acly	T	C	11: 100,383,117 (GRCm39)		probably null	Het
Adam29	A	C	8: 56,324,439 (GRCm39)	L672V	probably benign	Het
Adgrf1	T	C	17: 43,621,493 (GRCm39)	S577P	probably benign	Het
Ankar	T	C	1: 72,682,452 (GRCm39)	K1371R	probably damaging	Het
Arid5b	T	C	10: 67,934,009 (GRCm39)	D631G	probably damaging	Het
Brpf3	T	C	17: 29,025,611 (GRCm39)	V228A	probably benign	Het
C3	T	C	17: 57,513,276 (GRCm39)	D1457G	probably benign	Het
Calr4	A	T	4: 109,099,426 (GRCm39)	N143I	probably benign	Het
Catsperd	T	G	17: 56,935,811 (GRCm39)		probably null	Het
Cobl	T	A	11: 12,246,540 (GRCm39)	H154L		Het
Dennd1c	A	G	17: 57,374,915 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,923,698 (GRCm39)	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,951,225 (GRCm39)	S218P	probably benign	Het
Fbxw27	G	T	9: 109,599,223 (GRCm39)	T398N	probably damaging	Het
Fhod3	A	G	18: 25,223,219 (GRCm39)	D855G	probably benign	Het
Flii	A	G	11: 60,611,481 (GRCm39)	V410A	probably benign	Het
Fsip2	C	A	2: 82,817,968 (GRCm39)	P4567Q	probably benign	Het
Fxyd1	T	G	7: 30,752,458 (GRCm39)	Q66H	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gramd2b	C	T	18: 56,625,017 (GRCm39)	T370I	probably benign	Het
Kdr	A	G	5: 76,104,993 (GRCm39)	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,658,115 (GRCm39)	G166D	probably damaging	Het
Lrrfip2	A	G	9: 111,002,176 (GRCm39)	R92G	probably benign	Het
Map1a	T	A	2: 121,130,998 (GRCm39)	S605T	probably benign	Het
Megf8	A	T	7: 25,045,945 (GRCm39)	D1496V	probably damaging	Het
Mgam	T	C	6: 40,638,650 (GRCm39)	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,539,195 (GRCm39)	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,474,506 (GRCm39)		probably null	Het
Ndst1	A	G	18: 60,828,572 (GRCm39)	F661L	possibly damaging	Het
Neu3	G	A	7: 99,463,027 (GRCm39)	T232M	possibly damaging	Het
Nf1	T	C	11: 79,461,156 (GRCm39)	S741P	probably benign	Het
Nr5a1	G	T	2: 38,584,148 (GRCm39)	L424M	probably damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or4d10c	A	G	19: 12,065,530 (GRCm39)	F209L	possibly damaging	Het
Or4k51	A	T	2: 111,585,421 (GRCm39)	T276S	probably benign	Het
Or6d12	T	A	6: 116,493,721 (GRCm39)	*328R	probably null	Het
Or8g33	G	A	9: 39,337,599 (GRCm39)	T256I	probably benign	Het
Otud7a	A	G	7: 63,407,203 (GRCm39)	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,832 (GRCm39)	L237S	probably damaging	Het
Pias1	A	G	9: 62,788,427 (GRCm39)	M79T		Het
Prom2	T	C	2: 127,381,698 (GRCm39)	E206G	probably benign	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Sdad1	A	G	5: 92,441,832 (GRCm39)	V365A	possibly damaging	Het
Sdk2	T	C	11: 113,725,731 (GRCm39)	T1173A	probably damaging	Het
Sidt1	A	G	16: 44,063,860 (GRCm39)	S803P	probably damaging	Het
Slc45a1	A	T	4: 150,714,030 (GRCm39)	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750 (GRCm38)	H53Q	probably damaging	Het
Spata22	T	C	11: 73,231,225 (GRCm39)	F160L	probably benign	Het
Stag1	G	A	9: 100,826,879 (GRCm39)	V949I	probably benign	Het
Syne1	T	C	10: 5,073,744 (GRCm39)	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,981,520 (GRCm39)	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,607,275 (GRCm39)	M226I	probably benign	Het
Tep1	T	C	14: 51,081,944 (GRCm39)		probably null	Het
Tigd2	C	A	6: 59,187,166 (GRCm39)	T11K	probably damaging	Het
Trappc9	A	G	15: 72,565,468 (GRCm39)	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,388,848 (GRCm39)	M455T	probably benign	Het
Usp42	A	T	5: 143,712,400 (GRCm39)	S95T	probably damaging	Het
Usp44	T	C	10: 93,686,049 (GRCm39)	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,320 (GRCm39)	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,675,540 (GRCm39)	I616N	probably damaging	Het
Zfp352	A	G	4: 90,113,117 (GRCm39)	K419R	probably benign	Het
Zfp595	T	A	13: 67,465,711 (GRCm39)	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,822,161 (GRCm39)	S301T	probably benign	Het
Zzef1	T	C	11: 72,763,475 (GRCm39)	V1374A	possibly damaging	Het

Other mutations in Cryzl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00808:Cryzl2	APN	1	157,298,246 (GRCm39)	missense	probably benign
IGL01481:Cryzl2	APN	1	157,298,309 (GRCm39)	splice site	probably null
IGL01878:Cryzl2	APN	1	157,299,970 (GRCm39)	missense	possibly damaging	0.70
IGL02596:Cryzl2	APN	1	157,292,539 (GRCm39)	missense	probably damaging	1.00
G5030:Cryzl2	UTSW	1	157,292,580 (GRCm39)	nonsense	probably null
R0399:Cryzl2	UTSW	1	157,289,586 (GRCm39)	missense	probably damaging	1.00
R0402:Cryzl2	UTSW	1	157,292,014 (GRCm39)	missense	probably benign	0.00
R0518:Cryzl2	UTSW	1	157,292,000 (GRCm39)	missense	probably damaging	1.00
R0761:Cryzl2	UTSW	1	157,293,294 (GRCm39)	missense	probably benign	0.15
R1104:Cryzl2	UTSW	1	157,298,174 (GRCm39)	splice site	probably benign
R1471:Cryzl2	UTSW	1	157,298,291 (GRCm39)	missense	probably benign	0.01
R1773:Cryzl2	UTSW	1	157,298,292 (GRCm39)	missense	probably benign	0.01
R4752:Cryzl2	UTSW	1	157,286,219 (GRCm39)	splice site	probably null
R5046:Cryzl2	UTSW	1	157,292,583 (GRCm39)	missense	probably damaging	1.00
R5389:Cryzl2	UTSW	1	157,289,546 (GRCm39)	nonsense	probably null
R5778:Cryzl2	UTSW	1	157,298,357 (GRCm39)	missense	probably benign	0.00
R6928:Cryzl2	UTSW	1	157,298,357 (GRCm39)	missense	probably benign	0.00
R7037:Cryzl2	UTSW	1	157,298,318 (GRCm39)	missense	probably damaging	0.99
R7911:Cryzl2	UTSW	1	157,299,925 (GRCm39)	missense	probably benign
R8854:Cryzl2	UTSW	1	157,286,370 (GRCm39)	missense	possibly damaging	0.66
R9618:Cryzl2	UTSW	1	157,289,578 (GRCm39)	missense	probably benign	0.00
R9667:Cryzl2	UTSW	1	157,316,038 (GRCm39)	missense	probably benign
Z1088:Cryzl2	UTSW	1	157,293,359 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- CAGTCTGACCACATTCCATTTTGG -3'
(R):5'- GTCAGCAGGTGATTCAGACATAG -3'

Sequencing Primer
(F):5'- GGATTTCTTTTAGATCAACGATGCC -3'
(R):5'- AATGCCTTACAGCTGGATCTCATGG -3'

Posted On

2019-08-26