Mutagenetix > Incidental Mutation

Incidental Mutation 'R6870:Cemip2'

536172

Institutional Source

Beutler Lab

Gene Symbol

Cemip2

Ensembl Gene

ENSMUSG00000024754

Gene Name

cell migration inducing hyaluronidase 2

Synonyms

3110012M15Rik, Tmem2

MMRRC Submission

044967-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R6870 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21755706-21835724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21809487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 956 (S956P)

Ref Sequence

ENSEMBL: ENSMUSP00000093908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025663] [ENSMUST00000096194]

AlphaFold

Q5FWI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025663
AA Change: S956P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: S956P

Domain	Start	End	E-Value	Type
transmembrane domain	83	105	N/A	INTRINSIC
G8	121	245	1.89e-44	SMART
Pfam:ILEI	265	360	2.1e-24	PFAM
Blast:PbH1	587	609	1e-6	BLAST
low complexity region	621	633	N/A	INTRINSIC
PbH1	669	691	3.62e3	SMART
PbH1	711	733	1.84e3	SMART
PbH1	791	812	1.33e3	SMART
Pfam:ILEI	1243	1333	9e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096194
AA Change: S956P

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: S956P

Domain	Start	End	E-Value	Type
transmembrane domain	83	105	N/A	INTRINSIC
G8	121	245	1.89e-44	SMART
Blast:PbH1	587	609	1e-6	BLAST
low complexity region	621	633	N/A	INTRINSIC
PbH1	669	691	3.62e3	SMART
PbH1	711	733	1.84e3	SMART
PbH1	791	812	1.33e3	SMART

Meta Mutation Damage Score

0.3419

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

72% (39/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700088E04Rik	T	C	15: 79,020,608 (GRCm39)	Y62C	probably benign	Het
A1bg	T	C	15: 60,791,564 (GRCm39)	T291A	probably damaging	Het
Abcb11	A	G	2: 69,115,642 (GRCm39)	I574T	possibly damaging	Het
Abcb5	T	A	12: 118,929,000 (GRCm39)	Y17F	possibly damaging	Het
Arfgef3	A	T	10: 18,522,478 (GRCm39)	L516*	probably null	Het
Arhgap21	A	G	2: 20,885,321 (GRCm39)	S619P	probably damaging	Het
Atp2c1	A	G	9: 105,347,261 (GRCm39)	V65A	probably benign	Het
Calm3	T	A	7: 16,653,568 (GRCm39)	Q9L	probably benign	Het
Cd300c2	C	T	11: 114,891,503 (GRCm39)	D124N	probably damaging	Het
Celsr3	A	G	9: 108,706,390 (GRCm39)	T958A	probably benign	Het
Cfap69	T	C	5: 5,671,958 (GRCm39)	T317A	probably benign	Het
Cluh	T	A	11: 74,556,210 (GRCm39)	I887K	probably damaging	Het
Dag1	A	T	9: 108,086,457 (GRCm39)	V228E	probably damaging	Het
Dhtkd1	T	C	2: 5,924,248 (GRCm39)		probably null	Het
Dnah1	T	A	14: 30,993,018 (GRCm39)	K2959*	probably null	Het
Dnttip2	T	A	3: 122,069,457 (GRCm39)	V224E	probably damaging	Het
Drosha	C	T	15: 12,907,479 (GRCm39)	P1071L	probably benign	Het
E030025P04Rik	T	A	11: 109,030,993 (GRCm39)	H84L	unknown	Het
Elac2	A	T	11: 64,890,589 (GRCm39)	S698C	probably null	Het
Elf2	A	T	3: 51,201,586 (GRCm39)	*88R	probably null	Het
Fastkd1	T	A	2: 69,538,958 (GRCm39)	I143L	probably benign	Het
Fbxw10	C	T	11: 62,746,193 (GRCm39)	R366C	probably damaging	Het
Frg2f1	T	C	4: 119,388,329 (GRCm39)	M57V	probably benign	Het
Gbp4	T	C	5: 105,273,444 (GRCm39)	S129G	probably damaging	Het
Gnat2	A	C	3: 108,002,947 (GRCm39)		probably benign	Het
Golgb1	C	A	16: 36,738,565 (GRCm39)	F2301L	probably damaging	Het
Il18bp	T	C	7: 101,666,518 (GRCm39)	T2A	possibly damaging	Het
Kpna2	T	C	11: 106,883,520 (GRCm39)		probably null	Het
Lrrfip2	A	T	9: 111,045,187 (GRCm39)		probably benign	Het
Map4k1	T	G	7: 28,701,096 (GRCm39)		probably null	Het
Mcm3ap	T	C	10: 76,306,049 (GRCm39)	V54A	probably benign	Het
Nup133	A	G	8: 124,626,246 (GRCm39)	I1112T	probably benign	Het
Or8b1	A	C	9: 38,399,382 (GRCm39)	D19A	probably benign	Het
Pcdhac1	T	A	18: 37,225,140 (GRCm39)	V651D	probably damaging	Het
Pde10a	A	G	17: 9,186,356 (GRCm39)	T571A	possibly damaging	Het
Phc3	A	G	3: 30,990,910 (GRCm39)	S403P	probably damaging	Het
Prl7b1	T	C	13: 27,788,516 (GRCm39)	E113G	probably damaging	Het
Psmd2	T	G	16: 20,480,593 (GRCm39)	M744R	probably benign	Het
Qrich2	T	C	11: 116,346,156 (GRCm39)	D1556G	probably damaging	Het
Septin1	C	T	7: 126,816,876 (GRCm39)	V46M	probably benign	Het
Shank2	C	A	7: 143,606,197 (GRCm39)	Q127K	probably damaging	Het
Siah1a	A	G	8: 87,451,653 (GRCm39)	V277A	possibly damaging	Het
Slc4a7	T	A	14: 14,733,846 (GRCm38)	D85E	probably damaging	Het
Slc5a12	A	T	2: 110,472,155 (GRCm39)	I526F	probably damaging	Het
Svil	T	C	18: 5,063,231 (GRCm39)	V834A	possibly damaging	Het
Sycp1	T	A	3: 102,842,919 (GRCm39)	S17C	probably damaging	Het
Tssk6	G	A	8: 70,355,673 (GRCm39)	R239Q	probably benign	Het
Txnrd1	A	G	10: 82,709,042 (GRCm39)	D80G	probably benign	Het
Tyk2	A	G	9: 21,036,250 (GRCm39)	F79S	probably damaging	Het
Tyrp1	T	C	4: 80,769,014 (GRCm39)	S503P	probably benign	Het
Upf1	A	T	8: 70,794,211 (GRCm39)	C232S	probably benign	Het
Zeb2	G	A	2: 44,878,922 (GRCm39)	T1080I	probably damaging	Het

Other mutations in Cemip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Cemip2	APN	19	21,822,121 (GRCm39)	missense	possibly damaging	0.77
IGL01528:Cemip2	APN	19	21,812,909 (GRCm39)	missense	possibly damaging	0.95
IGL01642:Cemip2	APN	19	21,801,265 (GRCm39)	missense	probably damaging	1.00
IGL01693:Cemip2	APN	19	21,779,251 (GRCm39)	missense	probably benign	0.00
IGL02437:Cemip2	APN	19	21,789,342 (GRCm39)	critical splice donor site	probably null
IGL02869:Cemip2	APN	19	21,789,241 (GRCm39)	missense	probably damaging	0.99
IGL02880:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL02904:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL02941:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL02950:Cemip2	APN	19	21,819,564 (GRCm39)	missense	probably benign	0.07
IGL03066:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL03120:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
R0005:Cemip2	UTSW	19	21,789,584 (GRCm39)	missense	probably damaging	0.98
R0496:Cemip2	UTSW	19	21,774,709 (GRCm39)	missense	possibly damaging	0.89
R0557:Cemip2	UTSW	19	21,789,267 (GRCm39)	missense	probably benign	0.05
R0620:Cemip2	UTSW	19	21,795,335 (GRCm39)	missense	probably benign
R1271:Cemip2	UTSW	19	21,801,268 (GRCm39)	missense	possibly damaging	0.92
R1435:Cemip2	UTSW	19	21,822,070 (GRCm39)	missense	probably benign
R1543:Cemip2	UTSW	19	21,789,937 (GRCm39)	missense	probably benign	0.03
R1558:Cemip2	UTSW	19	21,775,346 (GRCm39)	nonsense	probably null
R1658:Cemip2	UTSW	19	21,779,243 (GRCm39)	missense	probably damaging	1.00
R1744:Cemip2	UTSW	19	21,809,501 (GRCm39)	nonsense	probably null
R1859:Cemip2	UTSW	19	21,825,341 (GRCm39)	missense	possibly damaging	0.56
R1943:Cemip2	UTSW	19	21,825,404 (GRCm39)	splice site	probably null
R2001:Cemip2	UTSW	19	21,779,351 (GRCm39)	missense	probably benign	0.43
R2021:Cemip2	UTSW	19	21,822,114 (GRCm39)	missense	possibly damaging	0.91
R2177:Cemip2	UTSW	19	21,789,149 (GRCm39)	missense	possibly damaging	0.80
R2183:Cemip2	UTSW	19	21,801,157 (GRCm39)	missense	possibly damaging	0.81
R2921:Cemip2	UTSW	19	21,795,303 (GRCm39)	missense	possibly damaging	0.80
R2922:Cemip2	UTSW	19	21,795,303 (GRCm39)	missense	possibly damaging	0.80
R2923:Cemip2	UTSW	19	21,795,303 (GRCm39)	missense	possibly damaging	0.80
R3727:Cemip2	UTSW	19	21,822,075 (GRCm39)	missense	probably benign
R3730:Cemip2	UTSW	19	21,803,481 (GRCm39)	missense	probably damaging	0.97
R3790:Cemip2	UTSW	19	21,784,816 (GRCm39)	missense	probably damaging	1.00
R3831:Cemip2	UTSW	19	21,825,315 (GRCm39)	missense	probably damaging	0.97
R3858:Cemip2	UTSW	19	21,829,598 (GRCm39)	missense	probably benign	0.01
R3859:Cemip2	UTSW	19	21,829,598 (GRCm39)	missense	probably benign	0.01
R3899:Cemip2	UTSW	19	21,829,598 (GRCm39)	missense	probably benign	0.01
R4096:Cemip2	UTSW	19	21,770,016 (GRCm39)	start codon destroyed	probably null	0.99
R4206:Cemip2	UTSW	19	21,819,479 (GRCm39)	missense	probably damaging	1.00
R4480:Cemip2	UTSW	19	21,792,853 (GRCm39)	missense	probably benign	0.03
R4667:Cemip2	UTSW	19	21,822,145 (GRCm39)	missense	probably benign
R4667:Cemip2	UTSW	19	21,774,715 (GRCm39)	missense	probably benign	0.00
R4888:Cemip2	UTSW	19	21,833,528 (GRCm39)	missense	probably benign	0.00
R4914:Cemip2	UTSW	19	21,786,653 (GRCm39)	missense	probably benign	0.00
R5030:Cemip2	UTSW	19	21,819,469 (GRCm39)	missense	probably benign
R5329:Cemip2	UTSW	19	21,775,693 (GRCm39)	missense	probably benign	0.30
R5977:Cemip2	UTSW	19	21,803,447 (GRCm39)	missense	probably benign	0.01
R6013:Cemip2	UTSW	19	21,809,403 (GRCm39)	missense	possibly damaging	0.89
R6049:Cemip2	UTSW	19	21,803,490 (GRCm39)	missense	probably benign
R6199:Cemip2	UTSW	19	21,822,186 (GRCm39)	missense	probably benign	0.05
R6215:Cemip2	UTSW	19	21,789,751 (GRCm39)	missense	probably benign	0.02
R6273:Cemip2	UTSW	19	21,779,369 (GRCm39)	missense	probably damaging	1.00
R6429:Cemip2	UTSW	19	21,779,272 (GRCm39)	missense	probably benign	0.14
R6547:Cemip2	UTSW	19	21,822,195 (GRCm39)	missense	probably benign	0.01
R6630:Cemip2	UTSW	19	21,829,593 (GRCm39)	missense	probably damaging	0.99
R7276:Cemip2	UTSW	19	21,812,824 (GRCm39)	missense	probably benign	0.14
R7336:Cemip2	UTSW	19	21,803,509 (GRCm39)	nonsense	probably null
R7363:Cemip2	UTSW	19	21,833,575 (GRCm39)	missense	probably benign
R7678:Cemip2	UTSW	19	21,775,480 (GRCm39)	missense	probably damaging	1.00
R7727:Cemip2	UTSW	19	21,807,321 (GRCm39)	missense	probably benign	0.00
R7820:Cemip2	UTSW	19	21,784,825 (GRCm39)	missense	probably damaging	0.98
R7837:Cemip2	UTSW	19	21,775,385 (GRCm39)	missense	probably benign	0.40
R7859:Cemip2	UTSW	19	21,809,539 (GRCm39)	missense	possibly damaging	0.95
R7954:Cemip2	UTSW	19	21,770,264 (GRCm39)	missense	probably damaging	1.00
R7964:Cemip2	UTSW	19	21,775,794 (GRCm39)	critical splice donor site	probably null
R8058:Cemip2	UTSW	19	21,829,695 (GRCm39)	missense	probably benign	0.12
R8251:Cemip2	UTSW	19	21,784,765 (GRCm39)	missense	possibly damaging	0.82
R8746:Cemip2	UTSW	19	21,803,465 (GRCm39)	missense	probably damaging	1.00
R8820:Cemip2	UTSW	19	21,784,818 (GRCm39)	missense	probably damaging	0.99
R8931:Cemip2	UTSW	19	21,770,323 (GRCm39)	missense	probably benign	0.01
R9022:Cemip2	UTSW	19	21,789,986 (GRCm39)	critical splice donor site	probably null
R9354:Cemip2	UTSW	19	21,779,389 (GRCm39)	missense	probably benign	0.00
R9480:Cemip2	UTSW	19	21,775,622 (GRCm39)	missense	possibly damaging	0.64
R9495:Cemip2	UTSW	19	21,779,249 (GRCm39)	missense	probably damaging	0.99
R9593:Cemip2	UTSW	19	21,803,453 (GRCm39)	missense	probably damaging	1.00
R9705:Cemip2	UTSW	19	21,784,788 (GRCm39)	missense	probably damaging	0.96
R9740:Cemip2	UTSW	19	21,822,105 (GRCm39)	missense	probably benign	0.00
Z1177:Cemip2	UTSW	19	21,833,093 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAGGAAAGCTGTAGTACAACCC -3'
(R):5'- AAATACTGTGCTTGGGACCC -3'

Sequencing Primer
(F):5'- TAGTACAACCCTGGGGCTCTG -3'
(R):5'- CCTCCCCCAAGTCACCCTG -3'

Posted On

2018-10-18