Mutagenetix > Incidental Mutation

Incidental Mutation 'R0023:Crip3'

178064

Institutional Source

Beutler Lab

Gene Symbol

Crip3

Ensembl Gene

ENSMUSG00000023968

Gene Name

cysteine-rich protein 3

Synonyms

TLP-A, TLP

MMRRC Submission

038318-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0023 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

46739852-46742702 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46741920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 136 (K136E)

Ref Sequence

ENSEMBL: ENSMUSP00000109092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024764] [ENSMUST00000087012] [ENSMUST00000113465] [ENSMUST00000165993]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024764
AA Change: K136E

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000024764
Gene: ENSMUSG00000023968
AA Change: K136E

Domain	Start	End	E-Value	Type
LIM	4	56	9.54e-12	SMART
LIM	123	175	2.19e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000087012

SMART Domains

Protein: ENSMUSP00000084234
Gene: ENSMUSG00000067144

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
Pfam:MFS_1	82	479	1.2e-32	PFAM
Pfam:Sugar_tr	86	524	2.5e-36	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000113465
AA Change: K136E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000109092
Gene: ENSMUSG00000023968
AA Change: K136E

Domain	Start	End	E-Value	Type
LIM	4	56	9.54e-12	SMART
LIM	123	175	2.19e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164180

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165750

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165811

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165993
AA Change: K136E

PolyPhen 2 Score 0.803 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000130072
Gene: ENSMUSG00000023968
AA Change: K136E

Domain	Start	End	E-Value	Type
LIM	4	56	9.54e-12	SMART
LIM	123	175	2.19e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169441

Meta Mutation Damage Score

0.3692

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.2%

Validation Efficiency

98% (59/60)

MGI Phenotype

PHENOTYPE: Homozygous mutant mice exhibit a decrease in thymocyte cellularity, though thymocyte development and thymic architecture appear to be normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm1	A	C	4: 144,255,567 (GRCm39)	D329A	probably damaging	Het
Abcc12	T	A	8: 87,264,962 (GRCm39)	H661L	probably damaging	Het
Abcg4	A	G	9: 44,186,672 (GRCm39)	Y491H	probably damaging	Het
Acsbg2	C	G	17: 57,154,710 (GRCm39)	A481P	probably damaging	Het
Aknad1	T	A	3: 108,688,501 (GRCm39)	C610S	probably benign	Het
Ang4	G	T	14: 52,001,860 (GRCm39)	Y29*	probably null	Het
Aqp11	A	T	7: 97,375,896 (GRCm39)	I251N	possibly damaging	Het
Arid1a	G	T	4: 133,418,487 (GRCm39)	T1032K	unknown	Het
Atg16l1	T	C	1: 87,717,187 (GRCm39)	V538A	probably benign	Het
Bbs1	C	T	19: 4,956,042 (GRCm39)	A44T	probably damaging	Het
Bpifa3	A	C	2: 153,980,070 (GRCm39)	H234P	probably damaging	Het
Btbd9	A	T	17: 30,749,188 (GRCm39)	V42E	probably damaging	Het
Carmil3	C	G	14: 55,730,333 (GRCm39)	S15R	probably damaging	Het
Casp8ap2	A	G	4: 32,640,185 (GRCm39)	D413G	probably damaging	Het
Cfap44	T	A	16: 44,241,583 (GRCm39)	F651L	probably benign	Het
Clcn3	A	T	8: 61,386,104 (GRCm39)		probably benign	Het
Ctr9	G	A	7: 110,643,154 (GRCm39)	A509T	possibly damaging	Het
D930020B18Rik	T	C	10: 121,525,726 (GRCm39)	S367P	probably damaging	Het
Dhrs11	A	T	11: 84,713,976 (GRCm39)	L125H	probably damaging	Het
Dst	C	T	1: 34,228,200 (GRCm39)	P1606L	probably damaging	Het
Efcab7	A	T	4: 99,758,834 (GRCm39)		probably benign	Het
Eif2ak4	A	C	2: 118,293,202 (GRCm39)	S1253R	probably damaging	Het
Emc1	A	G	4: 139,098,320 (GRCm39)	D767G	probably damaging	Het
Fads1	G	A	19: 10,164,261 (GRCm39)		probably benign	Het
Fbxw26	T	C	9: 109,547,079 (GRCm39)	T449A	probably benign	Het
Frrs1	T	C	3: 116,690,437 (GRCm39)	F27L	probably damaging	Het
Fry	T	C	5: 150,374,563 (GRCm39)	S2358P	possibly damaging	Het
Gas6	A	C	8: 13,520,344 (GRCm39)	L448R	probably damaging	Het
Hikeshi	T	C	7: 89,569,412 (GRCm39)		probably benign	Het
Ifngr1	C	T	10: 19,485,197 (GRCm39)	R399*	probably null	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Knl1	C	T	2: 118,933,030 (GRCm39)	T2063I	possibly damaging	Het
Lyzl6	A	G	11: 103,527,697 (GRCm39)	V9A	probably benign	Het
Macf1	A	T	4: 123,382,107 (GRCm39)		probably benign	Het
Myo6	T	C	9: 80,190,816 (GRCm39)	V789A	possibly damaging	Het
Myo9b	A	T	8: 71,786,412 (GRCm39)	R693W	probably damaging	Het
Nasp	A	G	4: 116,462,968 (GRCm39)		probably benign	Het
Nr1i3	T	C	1: 171,044,900 (GRCm39)	F247L	probably damaging	Het
Plekhs1	T	G	19: 56,466,948 (GRCm39)	S260A	probably damaging	Het
Rpl21-ps6	T	C	17: 56,222,536 (GRCm39)		noncoding transcript	Het
Rtcb	A	T	10: 85,785,315 (GRCm39)		probably benign	Het
Sppl2a	T	A	2: 126,755,213 (GRCm39)		probably null	Het
Suco	A	T	1: 161,673,154 (GRCm39)		probably null	Het
Tnn	T	A	1: 159,932,498 (GRCm39)	T1075S	probably benign	Het
Traf3	T	A	12: 111,209,912 (GRCm39)	C169*	probably null	Het
Ucp3	G	T	7: 100,134,250 (GRCm39)	V288L	probably benign	Het
Ulk3	C	A	9: 57,497,639 (GRCm39)	C4*	probably null	Het
Vmn1r73	A	T	7: 11,490,997 (GRCm39)	T272S	probably benign	Het
Vmn2r115	G	A	17: 23,565,252 (GRCm39)	E380K	probably benign	Het
Vmn2r3	T	A	3: 64,182,787 (GRCm39)	N304I	probably damaging	Het
Xylt1	G	T	7: 117,233,928 (GRCm39)	G485V	probably damaging	Het
Yars1	A	G	4: 129,090,981 (GRCm39)	T130A	probably benign	Het
Zfp652	A	T	11: 95,644,295 (GRCm39)	R205*	probably null	Het

Other mutations in Crip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1476:Crip3	UTSW	17	46,741,702 (GRCm39)	splice site	probably benign
R2197:Crip3	UTSW	17	46,740,338 (GRCm39)	missense	probably damaging	1.00
R2255:Crip3	UTSW	17	46,740,298 (GRCm39)	missense	probably damaging	1.00
R4239:Crip3	UTSW	17	46,742,156 (GRCm39)	nonsense	probably null
R4668:Crip3	UTSW	17	46,740,290 (GRCm39)	missense	probably damaging	1.00
R4786:Crip3	UTSW	17	46,741,968 (GRCm39)	missense	possibly damaging	0.77
R4858:Crip3	UTSW	17	46,741,673 (GRCm39)	intron	probably benign
R5996:Crip3	UTSW	17	46,742,210 (GRCm39)	missense	possibly damaging	0.46
R6560:Crip3	UTSW	17	46,741,962 (GRCm39)	missense	probably damaging	1.00
R7084:Crip3	UTSW	17	46,741,716 (GRCm39)	missense	probably benign
R7626:Crip3	UTSW	17	46,740,791 (GRCm39)	missense	probably benign	0.08
R9081:Crip3	UTSW	17	46,740,959 (GRCm39)	missense	probably benign	0.12
X0067:Crip3	UTSW	17	46,740,753 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- GGCCTCCCTACTTGAAGACATTCAC -3'
(R):5'- TGCCATCATGCTGGAACACAGAAG -3'

Sequencing Primer
(F):5'- ACTGGTGAGACTTCACTGTGC -3'
(R):5'- CAGAAGAAGAATCTTCTCAGCTTCTC -3'

Posted On

2014-05-07